Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF ATP1A1 0 genome.wustl.edu 37 1 116941382 116941382 + Missense_Mutation SNP T T G TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 1 116941382 116941382 T G SNP ATP1A1 ENST00000295598 human ensembl 74_37 +1 known missense c.2264 p.F755C 1.000 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A1 HGNC ENSG00000163399 152 0 0 90 67 42.6752 FLG 0 genome.wustl.edu 37 1 152285533 152285533 + Missense_Mutation SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 1 152285533 152285533 C T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.1829 p.G610E 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 476 0 0 356 185 34.1959 LCE2D 0 genome.wustl.edu 37 1 152636662 152636662 + Missense_Mutation SNP G G C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 1 152636662 152636662 G C SNP LCE2D ENST00000368784 human ensembl 74_37 +1 known missense c.81 p.K27N 0.240 NULL NULL - no_errors LCE2D HGNC ENSG00000187223 176 0 0 131 60 31.4136 APOA1BP 0 genome.wustl.edu 37 1 156562483 156562483 + RNA SNP A A C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 1 156562483 156562483 A C SNP APOA1BP ENST00000467374 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors APOA1BP HGNC ENSG00000163382 70 0 0 71 38 34.8624 NHLH1 0 genome.wustl.edu 37 1 160340766 160340766 + Missense_Mutation SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 1 160340766 160340766 C T SNP NHLH1 ENST00000302101 human ensembl 74_37 +1 known missense c.245 p.T82M 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors NHLH1 HGNC ENSG00000171786 43 0 0 39 22 36.0656 CROCCP2 0 genome.wustl.edu 37 1 16946438 16946438 + RNA SNP G G C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 1 16946438 16946438 G C SNP CROCCP2 ENST00000412962 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CROCCP2 HGNC ENSG00000215908 31 0 0 18 3 14.2857 PAPPA2 0 genome.wustl.edu 37 1 176709162 176709162 + Silent SNP G G C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 1 176709162 176709162 G C SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known silent c.3981 p.V1327 1.000 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 182 0 0 193 36 15.7205 F13B 0 genome.wustl.edu 37 1 197021789 197021789 + Silent SNP C C A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 1 197021789 197021789 C A SNP F13B ENST00000367412 human ensembl 74_37 -1 known silent c.1530 p.V510 1.000 superfamily_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors F13B HGNC ENSG00000143278 55 0 0 37 14 27.451 ADORA1 0 genome.wustl.edu 37 1 203134527 203134527 + Silent SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 1 203134527 203134527 C T SNP ADORA1 ENST00000309502 human ensembl 74_37 +1 known silent c.480 p.G160 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adenosn_rcpt,prints_GPCR_Rhodpsn,prints_Adeno_A1_rcpt - no_errors ADORA1 HGNC ENSG00000163485 75 0 0 69 10 12.6582 PDZD8 0 genome.wustl.edu 37 10 119133926 119133926 + Silent SNP G G A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 10 119133926 119133926 G A SNP PDZD8 ENST00000334464 human ensembl 74_37 -1 known silent c.813 p.I271 0.932 NULL pfam_PDZ,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_PDZ,smart_PDZ,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_PDZ,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PDZD8 HGNC ENSG00000165650 114 0 0 70 39 35.7798 SLC16A9 0 genome.wustl.edu 37 10 61424004 61424004 + Silent SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 10 61424004 61424004 C T SNP SLC16A9 ENST00000395347 human ensembl 74_37 -1 known silent c.417 p.A139 0.585 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A9 HGNC ENSG00000165449 89 0 0 60 18 23.0769 TECTA 0 genome.wustl.edu 37 11 121032936 121032936 + Missense_Mutation SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 11 121032936 121032936 C T SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.5129 p.P1710L 1.000 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 72 0 0 62 5 7.46269 OR8D2 0 genome.wustl.edu 37 11 124189623 124189623 + Silent SNP T T C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 11 124189623 124189623 T C SNP OR8D2 ENST00000357438 human ensembl 74_37 -1 known silent c.471 p.T157 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D2 HGNC ENSG00000197263 77 0 0 66 16 19.5122 CTSD 0 genome.wustl.edu 37 11 1774867 1774867 + Missense_Mutation SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 11 1774867 1774867 C T SNP CTSD ENST00000236671 human ensembl 74_37 -1 known missense c.1105 p.G369S 1.000 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors CTSD HGNC ENSG00000117984 77 0 0 63 15 19.2308 OR51M1 0 genome.wustl.edu 37 11 5410875 5410875 + Missense_Mutation SNP C C G TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 11 5410875 5410875 C G SNP OR51M1 ENST00000328611 human ensembl 74_37 +1 known missense c.247 p.L83V 0.646 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51M1 HGNC ENSG00000184698 173 0 0 139 19 12.0253 OR4A15 0 genome.wustl.edu 37 11 55135528 55135528 + Missense_Mutation SNP G G T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 11 55135528 55135528 G T SNP OR4A15 ENST00000314706 human ensembl 74_37 +1 known missense c.169 p.V57F 0.053 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A15 HGNC ENSG00000181958 62 0 0 36 29 44.6154 MS4A14 0 genome.wustl.edu 37 11 60183390 60183390 + Missense_Mutation SNP C C A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 11 60183390 60183390 C A SNP MS4A14 ENST00000300187 human ensembl 74_37 +1 known missense c.949 p.P317T 0.000 NULL pfam_CD20-like - no_errors MS4A14 HGNC ENSG00000166928 101 0 0 50 36 41.8605 CAPN5 0 genome.wustl.edu 37 11 76829348 76829348 + Missense_Mutation SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 11 76829348 76829348 C T SNP CAPN5 ENST00000278559 human ensembl 74_37 +1 known missense c.1117 p.R373C 1.000 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN5 HGNC ENSG00000149260 26 0 0 9 9 50 NLRP10 0 genome.wustl.edu 37 11 7982173 7982173 + Missense_Mutation SNP G G A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 11 7982173 7982173 G A SNP NLRP10 ENST00000328600 human ensembl 74_37 -1 known missense c.986 p.T329M 0.000 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP10 HGNC ENSG00000182261 158 0 0 143 10 6.53595 PCF11 0 genome.wustl.edu 37 11 82874885 82874885 + Silent SNP G G A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 11 82874885 82874885 G A SNP PCF11 ENST00000298281 human ensembl 74_37 +1 known silent c.483 p.V161 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom - no_errors PCF11 HGNC ENSG00000165494 36 0 0 32 4 11.1111 ANKS1B 0 genome.wustl.edu 37 12 100206067 100206067 + Nonsense_Mutation SNP G G A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 12 100206067 100206067 G A SNP ANKS1B ENST00000329257 human ensembl 74_37 -1 known nonsense c.238 p.Q80* 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1B HGNC ENSG00000185046 79 0 0 54 24 30.7692 PTPN11 0 genome.wustl.edu 37 12 112891073 112891073 + Missense_Mutation SNP T T A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 12 112891073 112891073 T A SNP PTPN11 ENST00000351677 human ensembl 74_37 +1 known missense c.407 p.L136H 1.000 pfam_SH2,smart_SH2,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,prints_SH2 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2 - no_errors PTPN11 HGNC ENSG00000179295 160 0 0 114 39 25.4902 OASL 0 genome.wustl.edu 37 12 121458498 121458498 + Nonsense_Mutation SNP T T A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 12 121458498 121458498 T A SNP OASL ENST00000257570 human ensembl 74_37 -1 known nonsense c.1411 p.K471* 0.000 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_2-5-oligoadenylate_synth_N,pfscan_Ubiquitin_supergroup - no_errors OASL HGNC ENSG00000135114 100 0 0 70 42 37.5 ANAPC5 0 genome.wustl.edu 37 12 121757590 121757590 + Missense_Mutation SNP A A C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 12 121757590 121757590 A C SNP ANAPC5 ENST00000261819 human ensembl 74_37 -1 known missense c.1547 p.F516C 1.000 NULL smart_TPR_repeat - no_errors ANAPC5 HGNC ENSG00000089053 54 0 0 43 9 17.3077 ULK1 0 genome.wustl.edu 37 12 132380356 132380356 + Missense_Mutation SNP T T A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 12 132380356 132380356 T A SNP ULK1 ENST00000321867 human ensembl 74_37 +1 known missense c.233 p.L78Q 0.890 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK1 HGNC ENSG00000177169 79 0 0 66 10 13.1579 KIAA1551 0 genome.wustl.edu 37 12 32136728 32136728 + Missense_Mutation SNP A A G TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 12 32136728 32136728 A G SNP KIAA1551 ENST00000312561 human ensembl 74_37 +1 known missense c.2839 p.T947A 0.000 NULL NULL - no_errors KIAA1551 HGNC ENSG00000174718 51 0 0 64 16 20 COL2A1 0 genome.wustl.edu 37 12 48367927 48367927 + Missense_Mutation SNP A A G TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 12 48367927 48367927 A G SNP COL2A1 ENST00000380518 human ensembl 74_37 -1 known missense c.4262 p.I1421T 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL2A1 HGNC ENSG00000139219 94 0 0 56 30 34.8837 GALNT8 0 genome.wustl.edu 37 12 4874570 4874570 + Missense_Mutation SNP A A G TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 12 4874570 4874570 A G SNP GALNT8 ENST00000252318 human ensembl 74_37 +1 known missense c.1619 p.E540G 0.994 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT8 HGNC ENSG00000130035 40 0 0 29 15 34.0909 BAZ2A 0 genome.wustl.edu 37 12 56993020 56993020 + Silent SNP G G A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 12 56993020 56993020 G A SNP BAZ2A ENST00000551812 human ensembl 74_37 -1 known silent c.5301 p.G1767 0.644 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2A HGNC ENSG00000076108 28 0 0 18 5 21.7391 TRHDE 0 genome.wustl.edu 37 12 72863563 72863563 + Silent SNP G G A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 12 72863563 72863563 G A SNP TRHDE ENST00000261180 human ensembl 74_37 +1 known silent c.1206 p.P402 0.960 pfam_Peptidase_M1_N,prints_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 107 0 0 59 43 42.1569 NALCN 0 genome.wustl.edu 37 13 101797186 101797186 + Missense_Mutation SNP A A C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 13 101797186 101797186 A C SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.1901 p.F634C 1.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 273 0 0 252 105 29.4118 BORA 0 genome.wustl.edu 37 13 73303150 73303150 + Silent SNP T T A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 13 73303150 73303150 T A SNP BORA ENST00000390667 human ensembl 74_37 +1 known silent c.72 p.P24 1.000 NULL prints_Aurora_borealis_protien - no_errors BORA HGNC ENSG00000136122 252 0 0 182 88 32.5926 MYCBP2 0 genome.wustl.edu 37 13 77636799 77636799 + Missense_Mutation SNP C C G TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 13 77636799 77636799 C G SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known missense c.12706 p.D4236H 1.000 NULL pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 99 0 0 87 59 40.411 MYCBP2 0 genome.wustl.edu 37 13 77671759 77671759 + Missense_Mutation SNP G G A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 13 77671759 77671759 G A SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known missense c.9530 p.A3177V 1.000 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 40 0 0 63 4 5.97015 APOPT1 0 genome.wustl.edu 37 14 104053664 104053664 + Missense_Mutation SNP T T A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 14 104053664 104053664 T A SNP APOPT1 ENST00000409074 human ensembl 74_37 +1 known missense c.478 p.L160I 0.990 pfam_UPF0671 pfam_UPF0671 - no_errors APOPT1 HGNC ENSG00000256053 40 0 0 26 6 18.75 ADSSL1 0 genome.wustl.edu 37 14 105201396 105201396 + Nonsense_Mutation SNP A A T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 14 105201396 105201396 A T SNP ADSSL1 ENST00000332972 human ensembl 74_37 +1 known nonsense c.361 p.K121* 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 41 0 0 31 5 13.8889 ENSG00000244306 0 genome.wustl.edu 37 14 19856808 19856808 + RNA SNP A A C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 14 19856808 19856808 A C SNP ENSG00000244306 ENST00000551334 human ensembl 74_37 -1 known rna NULL NULL 0.046 - - - no_errors CTD-2314B22.3 Clone_based_vega_gene ENSG00000244306 46 0 0 55 4 6.77966 TRIM9 0 genome.wustl.edu 37 14 51467488 51467488 + Silent SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 14 51467488 51467488 C T SNP TRIM9 ENST00000338969 human ensembl 74_37 -1 known silent c.1365 p.T455 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC ENSG00000100505 82 0 0 61 33 35.1064 DNM1P47 0 genome.wustl.edu 37 15 102299958 102299958 + RNA SNP C C G TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 15 102299958 102299958 C G SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors DNM1P47 HGNC ENSG00000259660 22 0 0 26 6 18.75 SNORD116-16 0 genome.wustl.edu 37 15 25327987 25327987 + RNA SNP T T G TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 15 25327987 25327987 T G SNP SNORD116-16 ENST00000384533 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors SNORD116-16 HGNC ENSG00000207263 230 0 0 156 60 27.7778 IGDCC3 0 genome.wustl.edu 37 15 65621754 65621754 + Missense_Mutation SNP C C A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 15 65621754 65621754 C A SNP IGDCC3 ENST00000327987 human ensembl 74_37 -1 known missense c.2179 p.A727S 0.000 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 IGDCC3 HGNC ENSG00000174498 264 1 0.377358 176 76 30.1587 IGFALS 0 genome.wustl.edu 37 16 1841608 1841608 + Missense_Mutation SNP G G C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 16 1841608 1841608 G C SNP IGFALS ENST00000415638 human ensembl 74_37 -1 known missense c.925 p.L309V 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors IGFALS HGNC ENSG00000099769 8 0 0 2 2 50 TMC5 0 genome.wustl.edu 37 16 19468202 19468202 + Silent SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 16 19468202 19468202 C T SNP TMC5 ENST00000219821 human ensembl 74_37 +1 known silent c.174 p.V58 0.002 NULL pfam_TMC - no_errors TMC5 HGNC ENSG00000103534 60 0 0 40 5 11.1111 MLST8 0 genome.wustl.edu 37 16 2258681 2258681 + Missense_Mutation SNP G G C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 16 2258681 2258681 G C SNP MLST8 ENST00000301724 human ensembl 74_37 +1 putative missense c.929 p.R310P 0.316 NULL pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MLST8 HGNC ENSG00000167965 125 1 0.793651 95 17 15.1786 AXIN1 0 genome.wustl.edu 37 16 354405 354405 + Missense_Mutation SNP G G C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 16 354405 354405 G C SNP AXIN1 ENST00000262320 human ensembl 74_37 -1 known missense c.1153 p.P385A 1.000 NULL pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN1 HGNC ENSG00000103126 62 0 0 45 17 27.4194 LRRC29 0 genome.wustl.edu 37 16 67241591 67241591 + Missense_Mutation SNP T T C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 16 67241591 67241591 T C SNP LRRC29 ENST00000341546 human ensembl 74_37 -1 known missense c.589 p.R197G 0.997 smart_Leu-rich_rpt_Cys-con_subtyp smart_Leu-rich_rpt_Cys-con_subtyp - no_errors LRRC29 HGNC ENSG00000125122 79 0 0 49 11 18.3333 GALNS 0 genome.wustl.edu 37 16 88884510 88884510 + Missense_Mutation SNP C C G TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 16 88884510 88884510 C G SNP GALNS ENST00000268695 human ensembl 74_37 -1 known missense c.1387 p.E463Q 0.996 superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors GALNS HGNC ENSG00000141012 11 0 0 10 4 28.5714 USP32P1 0 genome.wustl.edu 37 17 16704352 16704352 + RNA SNP C C G TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 17 16704352 16704352 C G SNP USP32P1 ENST00000341745 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors USP32P1 HGNC ENSG00000188933 29 0 0 6 11 64.7059 KCNJ12 0 genome.wustl.edu 37 17 21319829 21319829 + Missense_Mutation SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 17 21319829 21319829 C T SNP KCNJ12 ENST00000331718 human ensembl 74_37 +1 known missense c.1175 p.A392V 0.530 pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 99 0 0 75 8 9.63855 PIPOX 0 genome.wustl.edu 37 17 27383346 27383346 + RNA SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 17 27383346 27383346 C T SNP PIPOX ENST00000580241 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors PIPOX HGNC ENSG00000179761 80 0 0 53 24 31.1688 FMNL1 0 genome.wustl.edu 37 17 43324290 43324290 + Missense_Mutation SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 17 43324290 43324290 C T SNP FMNL1 ENST00000328118 human ensembl 74_37 +1 known missense c.3268 p.R1090C 0.489 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FMNL1 HGNC ENSG00000184922 17 0 0 12 2 14.2857 HOXB13 0 genome.wustl.edu 37 17 46805729 46805729 + Missense_Mutation SNP G G A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 17 46805729 46805729 G A SNP HOXB13 ENST00000290295 human ensembl 74_37 -1 known missense c.227 p.A76V 0.987 pfam_HoxA13_N pfam_HoxA13_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOXB13 HGNC ENSG00000159184 131 0 0 54 66 55 TBC1D3P1-DHX40P1 0 genome.wustl.edu 37 17 58086360 58086360 + RNA SNP A A C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 17 58086360 58086360 A C SNP TBC1D3P1-DHX40P1 ENST00000407042 human ensembl 74_37 -1 known rna NULL NULL 0.028 - - - no_errors TBC1D3P1-DHX40P1 HGNC ENSG00000267104 24 0 0 28 11 28.2051 PLEKHM1P 0 genome.wustl.edu 37 17 62783407 62783407 + RNA SNP A A T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 17 62783407 62783407 A T SNP PLEKHM1P ENST00000578036 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors PLEKHM1P HGNC ENSG00000214176 78 0 0 86 26 23.2143 BCL6B 0 genome.wustl.edu 37 17 6927474 6927474 + Silent SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 17 6927474 6927474 C T SNP BCL6B ENST00000293805 human ensembl 74_37 +1 known silent c.252 p.P84 0.035 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors BCL6B HGNC ENSG00000161940 211 0 0 94 91 49.1892 ZBTB4 0 genome.wustl.edu 37 17 7369455 7369455 + Silent SNP G G A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 17 7369455 7369455 G A SNP ZBTB4 ENST00000311403 human ensembl 74_37 -1 known silent c.666 p.A222 0.000 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 ZBTB4 HGNC ENSG00000174282 57 0 0 38 6 13.6364 TP53 0 genome.wustl.edu 37 17 7577570 7577570 + Missense_Mutation SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 17 7577570 7577570 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.711 p.M237I 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 110 0 0 51 35 40.6977 SYNGR2 0 genome.wustl.edu 37 17 76167968 76167968 + Missense_Mutation SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 17 76167968 76167968 C T SNP SYNGR2 ENST00000225777 human ensembl 74_37 +1 known missense c.626 p.T209I 1.000 pirsf_Synaptogyrin pfam_Marvel,pirsf_Synaptogyrin - no_errors SYNGR2 HGNC ENSG00000108639 172 0 0 131 11 7.74648 POTEC 0 genome.wustl.edu 37 18 14533160 14533160 + Missense_Mutation SNP T T C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 18 14533160 14533160 T C SNP POTEC ENST00000358970 human ensembl 74_37 -1 known missense c.955 p.S319G 0.027 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEC HGNC ENSG00000183206 239 0 0 186 62 25 ZNF521 0 genome.wustl.edu 37 18 22805131 22805131 + Silent SNP G G T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 18 22805131 22805131 G T SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known silent c.2751 p.A917 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 120 0 0 99 7 6.60377 KCTD1 0 genome.wustl.edu 37 18 24035839 24035839 + Silent SNP T T C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 18 24035839 24035839 T C SNP KCTD1 ENST00000417602 human ensembl 74_37 -1 known silent c.2466 p.G822 0.029 NULL pfam_DUF3504,pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD1 HGNC ENSG00000134504 50 0 0 33 31 48.4375 ANKRD12 0 genome.wustl.edu 37 18 9255014 9255014 + Silent SNP T T C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 18 9255014 9255014 T C SNP ANKRD12 ENST00000262126 human ensembl 74_37 +1 known silent c.1749 p.Y583 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 123 0 0 95 38 28.5714 KCNJ14 0 genome.wustl.edu 37 19 48967993 48967993 + Nonsense_Mutation SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 19 48967993 48967993 C T SNP KCNJ14 ENST00000342291 human ensembl 74_37 +1 known nonsense c.1270 p.R424* 0.940 NULL pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir - no_errors KCNJ14 HGNC ENSG00000182324 95 0 0 38 49 56.3218 SIGLEC16 0 genome.wustl.edu 37 19 50473092 50473092 + RNA SNP T T A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 19 50473092 50473092 T A SNP SIGLEC16 ENST00000602139 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SIGLEC16 HGNC ENSG00000161643 9 0 0 4 8 66.6667 ZNF544 0 genome.wustl.edu 37 19 58755353 58755353 + RNA SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 19 58755353 58755353 C T SNP ZNF544 ENST00000596597 human ensembl 74_37 +1 known rna NULL NULL 0.078 - - - no_errors ZNF544 HGNC ENSG00000198131 70 0 0 41 24 36.9231 ZNF132 0 genome.wustl.edu 37 19 58944795 58944795 + Silent SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 19 58944795 58944795 C T SNP ZNF132 ENST00000254166 human ensembl 74_37 -1 known silent c.2016 p.R672 0.001 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 ZNF132 HGNC ENSG00000131849 94 0 0 58 38 39.5833 CCDC74A 0 genome.wustl.edu 37 2 132285734 132285734 + Missense_Mutation SNP A A C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 2 132285734 132285734 A C SNP CCDC74A ENST00000295171 human ensembl 74_37 +1 known missense c.191 p.H64P 1.000 NULL NULL - no_errors CCDC74A HGNC ENSG00000163040 65 0 0 38 22 36.6667 DYNC1I2 0 genome.wustl.edu 37 2 172585298 172585298 + Silent SNP T T C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 2 172585298 172585298 T C SNP DYNC1I2 ENST00000397119 human ensembl 74_37 +1 known silent c.1329 p.D443 0.997 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC ENSG00000077380 18 0 0 27 2 6.89655 ZAK 0 genome.wustl.edu 37 2 174047608 174047608 + Missense_Mutation SNP G G A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 2 174047608 174047608 G A SNP ZAK ENST00000375213 human ensembl 74_37 +1 known missense c.274 p.D92N 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MLTK Uniprot_gn ENSG00000091436 56 0 0 44 22 33.3333 FSIP2 0 genome.wustl.edu 37 2 186678562 186678562 + Silent SNP G G T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 2 186678562 186678562 G T SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known silent c.20385 p.T6795 0.000 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 50 0 0 14 25 64.1026 TFPI 0 genome.wustl.edu 37 2 188348868 188348868 + Missense_Mutation SNP T T A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 2 188348868 188348868 T A SNP TFPI ENST00000233156 human ensembl 74_37 -1 known missense c.611 p.K204M 0.001 pirsf_Prot_inhib_I2_TFPI pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors TFPI HGNC ENSG00000003436 120 0 0 121 17 12.3188 DNAH7 0 genome.wustl.edu 37 2 196729058 196729058 + Missense_Mutation SNP C C G TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 2 196729058 196729058 C G SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.7321 p.D2441H 0.999 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 92 0 0 109 6 5.21739 ERBB4 0 genome.wustl.edu 37 2 212288966 212288966 + Missense_Mutation SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 2 212288966 212288966 C T SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.2780 p.R927Q 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_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_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 63 0 0 31 19 38 COL6A3 0 genome.wustl.edu 37 2 238280910 238280910 + Silent SNP G G A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 2 238280910 238280910 G A SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known silent c.3750 p.Y1250 0.082 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 74 0 0 39 23 37.0968 DTNB 0 genome.wustl.edu 37 2 25656795 25656795 + Missense_Mutation SNP G G C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 2 25656795 25656795 G C SNP DTNB ENST00000406818 human ensembl 74_37 -1 known missense c.1327 p.L443V 1.000 pirsf_Distrobrevin pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ - no_errors DTNB HGNC ENSG00000138101 167 0 0 170 19 10.0529 ASXL2 0 genome.wustl.edu 37 2 25966067 25966067 + Missense_Mutation SNP A A C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 2 25966067 25966067 A C SNP ASXL2 ENST00000435504 human ensembl 74_37 -1 known missense c.3139 p.S1047A 0.159 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ENSG00000143970 40 0 0 47 15 24.1935 ZNF512 0 genome.wustl.edu 37 2 27838091 27838091 + Nonsense_Mutation SNP G G A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 2 27838091 27838091 G A SNP ZNF512 ENST00000355467 human ensembl 74_37 +1 known nonsense c.1188 p.W396* 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF512 HGNC ENSG00000243943 197 0 0 151 44 22.5641 CEBPZ 0 genome.wustl.edu 37 2 37455880 37455880 + Silent SNP A A G TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 2 37455880 37455880 A G SNP CEBPZ ENST00000234170 human ensembl 74_37 -1 known silent c.456 p.N152 0.000 NULL pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors CEBPZ HGNC ENSG00000115816 111 0 0 113 58 33.9181 TGOLN2 0 genome.wustl.edu 37 2 85555049 85555049 + Missense_Mutation SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 2 85555049 85555049 C T SNP TGOLN2 ENST00000377386 human ensembl 74_37 -1 known missense c.37 p.A13T 0.141 NULL NULL - no_errors TGOLN2 HGNC ENSG00000152291 24 0 0 15 2 11.7647 IMMT 0 genome.wustl.edu 37 2 86378626 86378626 + Missense_Mutation SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 2 86378626 86378626 C T SNP IMMT ENST00000410111 human ensembl 74_37 -1 known missense c.1195 p.D399N 1.000 pfam_Mt-IM_prot_Mitofilin pfam_Mt-IM_prot_Mitofilin - no_errors IMMT HGNC ENSG00000132305 63 0 0 77 8 9.41176 XRN2 0 genome.wustl.edu 37 20 21306950 21306950 + Missense_Mutation SNP G G A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 20 21306950 21306950 G A SNP XRN2 ENST00000377191 human ensembl 74_37 +1 known missense c.109 p.D37N 1.000 pfam_Put_53exo,pirsf_5_3_exoribonuclease_2 pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2 - no_errors XRN2 HGNC ENSG00000088930 82 0 0 68 11 13.9241 SSTR4 0 genome.wustl.edu 37 20 23016831 23016831 + Missense_Mutation SNP G G C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 20 23016831 23016831 G C SNP SSTR4 ENST00000255008 human ensembl 74_37 +1 known missense c.711 p.K237N 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_4,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt,prints_Somatstn_rcpt_1 - no_errors SSTR4 HGNC ENSG00000132671 141 0 0 54 39 41.9355 NANP 0 genome.wustl.edu 37 20 25597072 25597072 + Missense_Mutation SNP G G C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 20 25597072 25597072 G C SNP NANP ENST00000304788 human ensembl 74_37 -1 known missense c.236 p.A79G 0.998 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA_CTE7 pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_HAD-SF_hydro_IA,tigrfam_HAD-SF_hydro_IA_CTE7,tigrfam_HAD-SF_hydro_IA - no_errors NANP HGNC ENSG00000170191 70 0 0 81 6 6.89655 TAF4 0 genome.wustl.edu 37 20 60582625 60582625 + Missense_Mutation SNP G G C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 20 60582625 60582625 G C SNP TAF4 ENST00000252996 human ensembl 74_37 -1 known missense c.1952 p.P651R 1.000 pfam_TAFH_NHR1,smart_TAFH_NHR1,pfscan_TAFH_NHR1 pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4 HGNC ENSG00000130699 176 0 0 248 58 18.9542 LAMA5 0 genome.wustl.edu 37 20 60883243 60883243 + RNA SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 20 60883243 60883243 C T SNP LAMA5 ENST00000492698 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LAMA5 HGNC ENSG00000130702 18 0 0 39 9 18.75 MYO18B 0 genome.wustl.edu 37 22 26224916 26224916 + Missense_Mutation SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 22 26224916 26224916 C T SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known missense c.2960 p.T987M 0.321 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 55 0 0 20 24 54.5455 MYH9 0 genome.wustl.edu 37 22 36690172 36690172 + Missense_Mutation SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 22 36690172 36690172 C T SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known missense c.3803 p.R1268H 1.000 pfam_Myosin_tail,superfamily_STAT_TF_coiled-coil pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 109 0 0 50 49 49.4949 RANGAP1 0 genome.wustl.edu 37 22 41650402 41650402 + Silent SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 22 41650402 41650402 C T SNP RANGAP1 ENST00000356244 human ensembl 74_37 -1 known silent c.1170 p.E390 0.781 NULL pfam_Ran_GTPase_activating_1_C,superfamily_Ran_GTPase_activating_1_C,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RANGAP1 HGNC ENSG00000100401 66 0 0 39 3 7.14286 SLC7A14 0 genome.wustl.edu 37 3 170244454 170244454 + Missense_Mutation SNP A A T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 3 170244454 170244454 A T SNP SLC7A14 ENST00000231706 human ensembl 74_37 -1 known missense c.272 p.F91Y 1.000 pfam_AA-permease/SLC12A_dom pfam_AA-permease/SLC12A_dom - no_errors SLC7A14 HGNC ENSG00000013293 107 0 0 55 61 52.5862 SUSD5 0 genome.wustl.edu 37 3 33195166 33195166 + Missense_Mutation SNP C C A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 3 33195166 33195166 C A SNP SUSD5 ENST00000309558 human ensembl 74_37 -1 known missense c.958 p.A320S 0.327 NULL pfam_Link,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Link,pfscan_Link,pfscan_Sushi_SCR_CCP - no_errors SUSD5 HGNC ENSG00000173705 53 0 0 66 10 13.1579 KLHL18 0 genome.wustl.edu 37 3 47364083 47364083 + Missense_Mutation SNP G G T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 3 47364083 47364083 G T SNP KLHL18 ENST00000232766 human ensembl 74_37 +1 known missense c.286 p.A96S 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL18 HGNC ENSG00000114648 64 0 0 71 16 18.3908 CADPS 0 genome.wustl.edu 37 3 62459960 62459960 + Missense_Mutation SNP G G T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 3 62459960 62459960 G T SNP CADPS ENST00000383710 human ensembl 74_37 -1 known missense c.3365 p.T1122N 1.000 NULL pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 159 0 0 121 37 23.4177 EPHA3 0 genome.wustl.edu 37 3 89390956 89390956 + Missense_Mutation SNP T T C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 3 89390956 89390956 T C SNP EPHA3 ENST00000336596 human ensembl 74_37 +1 known missense c.1022 p.V341A 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA3 HGNC ENSG00000044524 80 0 0 84 5 5.61798 SRGAP3 0 genome.wustl.edu 37 3 9100112 9100112 + Silent SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 3 9100112 9100112 C T SNP SRGAP3 ENST00000383836 human ensembl 74_37 -1 known silent c.846 p.R282 1.000 NULL pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP3 HGNC ENSG00000196220 144 0 0 143 12 7.74194 ENSG00000269886 0 genome.wustl.edu 37 3 9854599 9854599 + RNA SNP G G A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 3 9854599 9854599 G A SNP ENSG00000269886 ENST00000602768 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-266J6.2 Clone_based_vega_gene ENSG00000269886 68 0 0 47 27 36.4865 FILIP1L 0 genome.wustl.edu 37 3 99569912 99569912 + Nonsense_Mutation SNP A A T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 3 99569912 99569912 A T SNP FILIP1L ENST00000354552 human ensembl 74_37 -1 known nonsense c.608 p.L203* 1.000 pfam_Cortactin-binding_p2_N,prints_Tropomyosin pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin - no_errors FILIP1L HGNC ENSG00000168386 127 0 0 196 22 10.0917 KIAA1430 0 genome.wustl.edu 37 4 186097014 186097014 + Missense_Mutation SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 4 186097014 186097014 C T SNP KIAA1430 ENST00000296775 human ensembl 74_37 -1 known missense c.1246 p.D416N 0.004 NULL NULL - no_errors KIAA1430 HGNC ENSG00000164323 137 0 0 39 61 61 WDFY3 0 genome.wustl.edu 37 4 85674913 85674913 + Silent SNP A A G TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 4 85674913 85674913 A G SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known silent c.5676 p.P1892 0.151 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 85 0 0 76 4 5 PCDHA11 0 genome.wustl.edu 37 5 140250587 140250587 + Silent SNP G G A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 5 140250587 140250587 G A SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known silent c.1899 p.T633 0.871 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 PCDHA11 HGNC ENSG00000249158 125 0 0 95 13 12.037 WWC1 0 genome.wustl.edu 37 5 167858361 167858361 + Nonsense_Mutation SNP G G A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 5 167858361 167858361 G A SNP WWC1 ENST00000265293 human ensembl 74_37 +1 known nonsense c.2192 p.W731* 1.000 superfamily_C2_dom pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WWC1 HGNC ENSG00000113645 107 0 0 60 46 43.3962 KIF2A 0 genome.wustl.edu 37 5 61659532 61659532 + Missense_Mutation SNP C C G TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 5 61659532 61659532 C G SNP KIF2A ENST00000407818 human ensembl 74_37 +1 known missense c.1273 p.Q425E 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2A HGNC ENSG00000068796 132 0 0 51 43 45.7447 AIM1 0 genome.wustl.edu 37 6 106991352 106991352 + Missense_Mutation SNP G G A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 6 106991352 106991352 G A SNP AIM1 ENST00000369066 human ensembl 74_37 +1 known missense c.3695 p.C1232Y 0.652 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1 HGNC ENSG00000112297 206 0 0 133 71 34.8039 EZR-AS1 0 genome.wustl.edu 37 6 159239096 159239096 + RNA SNP A A G TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 6 159239096 159239096 A G SNP EZR-AS1 ENST00000451712 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors EZR-AS1 HGNC ENSG00000233893 99 0 0 68 27 28.4211 KIF25 0 genome.wustl.edu 37 6 168440804 168440804 + Missense_Mutation SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 6 168440804 168440804 C T SNP KIF25 ENST00000354419 human ensembl 74_37 +1 known missense c.554 p.A185V 0.012 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF25 HGNC ENSG00000125337 79 0 0 98 10 9.25926 THBS2 0 genome.wustl.edu 37 6 169626379 169626379 + Nonsense_Mutation SNP G G A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 6 169626379 169626379 G A SNP THBS2 ENST00000366787 human ensembl 74_37 -1 known nonsense c.2434 p.R812* 0.852 pfam_Thrombospondin_3-like_rpt pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS2 HGNC ENSG00000186340 62 0 0 47 20 29.8507 ITPR3 0 genome.wustl.edu 37 6 33636823 33636823 + Missense_Mutation SNP G G C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 6 33636823 33636823 G C SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known missense c.2079 p.W693C 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 103 0 0 81 43 34.6774 SMAP1 0 genome.wustl.edu 37 6 71562283 71562283 + Silent SNP G G A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 6 71562283 71562283 G A SNP SMAP1 ENST00000370455 human ensembl 74_37 +1 known silent c.705 p.T235 0.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors SMAP1 HGNC ENSG00000112305 133 0 0 117 36 23.5294 CAGE1 0 genome.wustl.edu 37 6 7373546 7373546 + Missense_Mutation SNP T T G TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 6 7373546 7373546 T G SNP CAGE1 ENST00000338150 human ensembl 74_37 -1 known missense c.1506 p.R502S 0.308 NULL NULL - no_errors CAGE1 HGNC ENSG00000164304 42 0 0 32 3 8.57143 MAP3K7 0 genome.wustl.edu 37 6 91269867 91269867 + Missense_Mutation SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 6 91269867 91269867 C T SNP MAP3K7 ENST00000369329 human ensembl 74_37 -1 known missense c.410 p.C137Y 1.000 pirsf_MAPKKK7,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_MAPKKK7,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K7 HGNC ENSG00000135341 84 0 0 69 39 36.1111 RBM28 0 genome.wustl.edu 37 7 127953233 127953233 + Missense_Mutation SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 7 127953233 127953233 C T SNP RBM28 ENST00000223073 human ensembl 74_37 -1 known missense c.2140 p.E714K 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM28 HGNC ENSG00000106344 141 0 0 102 10 8.92857 SP8 0 genome.wustl.edu 37 7 20824871 20824871 + Missense_Mutation SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 7 20824871 20824871 C T SNP SP8 ENST00000418710 human ensembl 74_37 -1 known missense c.565 p.G189R 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Antifreeze_1 - no_errors SP8 HGNC ENSG00000164651 23 0 0 22 4 15.3846 RASA4CP 0 genome.wustl.edu 37 7 44073698 44073698 + RNA SNP C C G TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 7 44073698 44073698 C G SNP RASA4CP ENST00000425524 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RASA4CP HGNC ENSG00000228903 20 0 0 13 5 27.7778 DEFB135 0 genome.wustl.edu 37 8 11842018 11842018 + Silent SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 8 11842018 11842018 C T SNP DEFB135 ENST00000382208 human ensembl 74_37 +1 known silent c.153 p.N51 0.000 NULL NULL - no_errors DEFB135 HGNC ENSG00000205883 78 0 0 57 276 82.8829 NRG1 0 genome.wustl.edu 37 8 32505536 32505536 + Silent SNP G G A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 8 32505536 32505536 G A SNP NRG1 ENST00000520502 human ensembl 74_37 +1 known silent c.300 p.V100 1.000 NULL smart_EG-like_dom,pfscan_EG-like_dom - no_errors NRG1 HGNC ENSG00000157168 187 0 0 86 74 46.25 TRPA1 0 genome.wustl.edu 37 8 72977792 72977792 + Missense_Mutation SNP A A G TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 8 72977792 72977792 A G SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known missense c.446 p.V149A 0.999 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 39 0 0 33 21 38.8889 C9orf171 0 genome.wustl.edu 37 9 135374805 135374805 + Silent SNP C C T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 9 135374805 135374805 C T SNP C9orf171 ENST00000343036 human ensembl 74_37 +1 known silent c.450 p.H150 0.000 NULL NULL - no_errors C9orf171 HGNC ENSG00000188523 105 0 0 44 64 59.2593 SLC34A3 0 genome.wustl.edu 37 9 140128709 140128709 + Silent SNP G G C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 9 140128709 140128709 G C SNP SLC34A3 ENST00000361134 human ensembl 74_37 +1 known silent c.1074 p.V358 0.721 pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt - no_errors SLC34A3 HGNC ENSG00000198569 35 0 0 9 16 64 CNTNAP3 0 genome.wustl.edu 37 9 39178303 39178303 + Missense_Mutation SNP T T C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 9 39178303 39178303 T C SNP CNTNAP3 ENST00000297668 human ensembl 74_37 -1 known missense c.593 p.K198R 0.384 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3 HGNC ENSG00000106714 193 0 0 129 37 22.2892 NUTM2G 0 genome.wustl.edu 37 9 99701032 99701032 + Silent SNP T T C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 9 99701032 99701032 T C SNP NUTM2G ENST00000372322 human ensembl 74_37 +1 known silent c.1827 p.H609 0.000 NULL NULL - no_errors NUTM2G HGNC ENSG00000188152 20 0 0 10 4 28.5714 TFDP3 0 genome.wustl.edu 37 X 132351883 132351883 + Silent SNP G G A TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 X 132351883 132351883 G A SNP TFDP3 ENST00000310125 human ensembl 74_37 -1 known silent c.405 p.G135 0.999 pfam_E2F_TDP,pirsf_Transcrpt_fac_DP pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcrpt_fac_DP - no_errors TFDP3 HGNC ENSG00000183434 66 0 0 25 42 62.6866 TBC1D25 0 genome.wustl.edu 37 X 48418150 48418150 + Missense_Mutation SNP G G T TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 X 48418150 48418150 G T SNP TBC1D25 ENST00000376771 human ensembl 74_37 +1 known missense c.854 p.R285L 0.998 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D25 HGNC ENSG00000068354 28 0 0 15 16 51.6129 DGKA 0 genome.wustl.edu 37 12 56347513 56347514 + Frame_Shift_Ins INS - - C TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 12 56347513 56347514 - C INS DGKA ENST00000331886 human ensembl 74_37 +1 known frame_shift_ins c.2169_2170 p.R725fs 0.158:0.749 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKA HGNC ENSG00000065357 171 0 0 114 19 14.2857 MYF5 0 genome.wustl.edu 37 12 81112803 81112803 + Frame_Shift_Del DEL T T - TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 12 81112803 81112803 T - DEL MYF5 ENST00000228644 human ensembl 74_37 +1 known frame_shift_del c.741 p.S248fs 0.932 NULL pfam_Basic,pfam_Myf5,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MYF5 HGNC ENSG00000111049 109 0 0 104 21 16.8 ZIC5 0 genome.wustl.edu 37 13 100622668 100622688 + In_Frame_Del DEL GGCGGCGGCGGCGGCGGCGGC GGCGGCGGCGGCGGCGGCGGC - TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 GGCGGCGGCGGCGGCGGCGGC GGCGGCGGCGGCGGCGGCGGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 13 100622668 100622688 GGCGGCGGCGGCGGCGGCGGC - DEL ZIC5 ENST00000267294 human ensembl 74_37 -1 known in_frame_del c.1262_1242 p.PPPPPPP418in_frame_del 0.885:0.709:0.221:0.196:0.199:0.157:0.161:0.156:0.102:0.745:0.774:0.808:0.847:0.876:0.864:0.877:0.887:0.888:0.858:0.822:0.535 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC5 HGNC ENSG00000139800 8 0 0 12 9 42.8571 TRA2B 0 genome.wustl.edu 37 3 185641779 185641779 + RNA DEL A A - TCGA-D7-6820-01A-11D-1882-08 TCGA-D7-6820-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554922f2-ed07-44d7-ac3a-7e91e1b30ba6 e2135723-2e4d-4cab-bebb-35f7653d2e34 3 185641779 185641779 A - DEL TRA2B ENST00000465245 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TRA2B HGNC ENSG00000136527 47 0 0 35 3 7.89474