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 ADAMTS16 170690 genome.wustl.edu 37 5 5186227 5186227 + Missense_Mutation SNP C C T TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 5 5186227 5186227 C T SNP ADAMTS16 ENST00000274181 human ensembl 70_37 +1 known missense c.826 p.R276W 0.000 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ALMS1 7840 genome.wustl.edu 37 2 73677738 73677738 + Missense_Mutation SNP G G A TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 2 73677738 73677738 G A SNP ALMS1 ENST00000264448 human ensembl 70_37 +1 known missense c.4081 p.V1361I 0.000 NULL NULL - no_errors ALMS1 HGNC ATM 472 genome.wustl.edu 37 11 108178704 108178704 + Nonsense_Mutation SNP C C T TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 11 108178704 108178704 C T SNP ATM ENST00000278616 human ensembl 70_37 +1 known nonsense c.5755 p.Q1919* 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC AVPR1B 553 genome.wustl.edu 37 1 206225182 206225182 + Missense_Mutation SNP G G A TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 1 206225182 206225182 G A SNP AVPR1B ENST00000367126 human ensembl 70_37 +1 known missense c.742 p.D248N 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_rcpt_V1B pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_rcpt_V1B,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn,prints_Vprs_V1A_rcpt - no_errors AVPR1B HGNC BCHE 590 genome.wustl.edu 37 3 165547887 165547887 + Missense_Mutation SNP G G C TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 3 165547887 165547887 G C SNP BCHE ENST00000264381 human ensembl 70_37 -1 known missense c.935 p.T312S 0.012 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC CAMSAP1 157922 genome.wustl.edu 37 9 138714664 138714664 + Missense_Mutation SNP G G A TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 9 138714664 138714664 G A SNP CAMSAP1 ENST00000409386 human ensembl 70_37 -1 known missense c.1876 p.R626W 0.641 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC CC2D1B 200014 genome.wustl.edu 37 1 52818973 52818976 + RNA DEL AGAT AGAT - TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 AGAT AGAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 1 52818973 52818976 AGAT - DEL CC2D1B ENST00000460261 human ensembl 70_37 -1 known rna NULL NULL 0.001:0.000:0.000:0.000 - - - no_errors CC2D1B HGNC DBC1 0 genome.wustl.edu 37 9 121976225 121976225 + Silent SNP G G A TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 9 121976225 121976225 G A SNP DBC1 ENST00000265922 human ensembl 70_37 -1 known silent c.894 p.A298 0.221 NULL pfam_MACPF,smart_MACPF - no_errors DBC1 HGNC DCAF4L1 285429 genome.wustl.edu 37 4 41984755 41984755 + Missense_Mutation SNP G G A TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 4 41984755 41984755 G A SNP DCAF4L1 ENST00000333141 human ensembl 70_37 +1 known missense c.946 p.A316T 1.000 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 DCAF4L1 HGNC DUOXA1 90527 genome.wustl.edu 37 15 45415085 45415085 + Missense_Mutation SNP G G C TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 15 45415085 45415085 G C SNP DUOXA1 ENST00000267803 human ensembl 70_37 -1 known missense c.128 p.P43R 1.000 pfam_Dual_oxidase_maturation_fac pfam_Dual_oxidase_maturation_fac - no_errors DUOXA1 HGNC E2F8 79733 genome.wustl.edu 37 11 19251318 19251318 + Missense_Mutation SNP G G T TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 11 19251318 19251318 G T SNP E2F8 ENST00000250024 human ensembl 70_37 -1 known missense c.1576 p.Q526K 1.000 NULL pfam_E2F_TDP - no_errors E2F8 HGNC AGO3 192669 genome.wustl.edu 37 1 36475026 36475027 + RNA INS - - A TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 1 36475026 36475027 - A INS EIF2C3 ENST00000479395 human ensembl 70_37 +1 known rna NULL NULL 0.026:0.011 - - - no_errors EIF2C3 HGNC ELOVL1 64834 genome.wustl.edu 37 1 43829755 43829755 + Missense_Mutation SNP G G T TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 1 43829755 43829755 G T SNP ELOVL1 ENST00000372458 human ensembl 70_37 -1 known missense c.672 p.S224R 1.000 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL1 HGNC FANCC 2176 genome.wustl.edu 37 9 98009763 98009763 + Silent SNP A A G TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 9 98009763 98009763 A G SNP FANCC ENST00000289081 human ensembl 70_37 -1 known silent c.201 p.I67 1.000 pfam_Fanconi,pirsf_Fanconi pfam_Fanconi,pirsf_Fanconi,prints_Fanconi - no_errors FANCC HGNC FJX1 24147 genome.wustl.edu 37 11 35642248 35642248 + RNA DEL A A - TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 11 35642248 35642248 A - DEL FJX1 ENST00000532914 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors FJX1 HGNC GPRIN2 9721 genome.wustl.edu 37 10 46999178 46999178 + Missense_Mutation SNP A A C TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 10 46999178 46999178 A C SNP GPRIN2 ENST00000374314 human ensembl 70_37 +1 known missense c.298 p.T100P 0.084 NULL NULL - no_errors GPRIN2 HGNC GTF3C1 2975 genome.wustl.edu 37 16 27504033 27504033 + Missense_Mutation SNP G G A TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 16 27504033 27504033 G A SNP GTF3C1 ENST00000356183 human ensembl 70_37 -1 known missense c.2878 p.R960C 1.000 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC HERC1 8925 genome.wustl.edu 37 15 63972950 63972952 + In_Frame_Del DEL CCT CCT - TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 15 63972950 63972952 CCT - DEL HERC1 ENST00000443617 human ensembl 70_37 -1 known in_frame_del c.6251_6249 p.RG2083in_frame_delS 1.000:1.000:0.999 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC HRNR 388697 genome.wustl.edu 37 1 152192700 152192700 + Missense_Mutation SNP C C T TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 1 152192700 152192700 C T SNP HRNR ENST00000368801 human ensembl 70_37 -1 known missense c.1405 p.E469K 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC ITGB6 3694 genome.wustl.edu 37 2 160964291 160964291 + Missense_Mutation SNP C C T TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 2 160964291 160964291 C T SNP ITGB6 ENST00000283249 human ensembl 70_37 -1 known missense c.2167 p.G723R 1.000 pirsf_Integrin_bsu,prints_Integrin_bsu pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu - no_errors ITGB6 HGNC KCNJ6 3763 genome.wustl.edu 37 21 39086687 39086687 + Missense_Mutation SNP G G T TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 21 39086687 39086687 G T SNP KCNJ6 ENST00000288309 human ensembl 70_37 -1 known missense c.773 p.T258K 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2 - no_errors KCNJ6 HGNC KIF14 9928 genome.wustl.edu 37 1 200528488 200528488 + Silent SNP A A G TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 1 200528488 200528488 A G SNP KIF14 ENST00000367350 human ensembl 70_37 -1 known silent c.4323 p.H1441 0.001 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF14 HGNC MIR3118-6 100422906 genome.wustl.edu 37 15 21038126 21038128 + RNA DEL TAC TAC - TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 TAC TAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 15 21038126 21038128 TAC - DEL MIR3118-6 ENST00000584700 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000:0.000 - - - no_errors MIR3118-6 HGNC MT-CO2 4513 genome.wustl.edu 37 MT 7776 7776 + Missense_Mutation SNP T T C TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 MT 7776 7776 T C SNP MT-CO2 ENST00000361739 human ensembl 70_37 +1 known missense c.191 p.V64A NULL pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cyt_c_oxidase_su2-like_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,tigrfam_Cyt_c_oxidase_su2 pfam_Cyt_c_oxidase_su2_C,pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cupredoxin,superfamily_Cyt_c_oxidase_su2-like_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 - no_errors MT-CO2 HGNC NCF2 4688 genome.wustl.edu 37 1 183542373 183542373 + Missense_Mutation SNP T T A TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 1 183542373 183542373 T A SNP NCF2 ENST00000367535 human ensembl 70_37 -1 known missense c.556 p.N186Y 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_TPR-1,pfam_OPR_PB1,superfamily_SH3_domain,smart_TPR_repeat,smart_SH3_domain,smart_OPR_PB1,pfscan_SH3_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_p67phox,prints_SH3_domain - no_errors NCF2 HGNC NOP14 8602 genome.wustl.edu 37 4 2940996 2940996 + Missense_Mutation SNP C C T TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 4 2940996 2940996 C T SNP NOP14 ENST00000416614 human ensembl 70_37 -1 known missense c.2393 p.R798H 0.986 pfam_Nop14 pfam_Nop14 - no_errors NOP14 HGNC OVOL2 58495 genome.wustl.edu 37 20 18022346 18022346 + Missense_Mutation SNP C C T TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 20 18022346 18022346 C T SNP OVOL2 ENST00000278780 human ensembl 70_37 -1 known missense c.343 p.D115N 0.611 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors OVOL2 HGNC PCGF5 84333 genome.wustl.edu 37 10 93011180 93011180 + Missense_Mutation SNP G G A TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 10 93011180 93011180 G A SNP PCGF5 ENST00000336126 human ensembl 70_37 +1 known missense c.457 p.G153R 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF5 HGNC PLCB1 23236 genome.wustl.edu 37 20 8665620 8665620 + Missense_Mutation SNP G G A TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 20 8665620 8665620 G A SNP PLCB1 ENST00000338037 human ensembl 70_37 +1 known missense c.904 p.E302K 1.000 pirsf_PLC-beta,pfam_PLipase_C_EF-hand-like pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC POLR2B 5431 genome.wustl.edu 37 4 57872999 57872999 + Missense_Mutation SNP T T G TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 4 57872999 57872999 T G SNP POLR2B ENST00000314595 human ensembl 70_37 +1 known missense c.1235 p.L412R 1.000 pfam_RNA_pol_bsu_protrusion pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5 - no_errors POLR2B HGNC PTPRD 5789 genome.wustl.edu 37 9 8499699 8499699 + Missense_Mutation SNP C C T TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 9 8499699 8499699 C T SNP PTPRD ENST00000356435 human ensembl 70_37 -1 known missense c.2270 p.G757D 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC RAB13 5872 genome.wustl.edu 37 1 153954808 153954808 + RNA SNP C C T TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 1 153954808 153954808 C T SNP RAB13 ENST00000462680 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RAB13 HGNC SGOL1 151648 genome.wustl.edu 37 3 20212755 20212755 + RNA DEL A A - TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 3 20212755 20212755 A - DEL SGOL1 ENST00000460637 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors SGOL1 HGNC SH3BP4 23677 genome.wustl.edu 37 2 235949858 235949858 + Missense_Mutation SNP A A C TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 2 235949858 235949858 A C SNP SH3BP4 ENST00000344528 human ensembl 70_37 +1 known missense c.445 p.K149Q 0.091 NULL pfam_SH3_2,pfam_SH3_domain,pfam_ZU5,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors SH3BP4 HGNC SIRPA 140885 genome.wustl.edu 37 20 1915398 1915398 + Nonsense_Mutation SNP C C T TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 20 1915398 1915398 C T SNP SIRPA ENST00000400068 human ensembl 70_37 +1 known nonsense c.1264 p.Q422* 1.000 NULL pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like - no_errors SIRPA HGNC SLC12A7 10723 genome.wustl.edu 37 5 1078023 1078023 + Silent SNP G G A TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 5 1078023 1078023 G A SNP SLC12A7 ENST00000264930 human ensembl 70_37 -1 known silent c.1554 p.A518 0.553 pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC SPAST 6683 genome.wustl.edu 37 2 32340826 32340826 + Missense_Mutation SNP G G A TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 2 32340826 32340826 G A SNP SPAST ENST00000315285 human ensembl 70_37 +1 known missense c.926 p.R309H 0.924 pirsf_Spastin pfam_ATPase_AAA_core,pfam_MIT,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_MIT,smart_AAA+_ATPase,pirsf_Spastin - no_errors SPAST HGNC TDRD1 56165 genome.wustl.edu 37 10 115973875 115973875 + Splice_Site SNP T T C TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 10 115973875 115973875 T C SNP TDRD1 ENST00000251864 human ensembl 70_37 +1 known splice_site c.2212+2 e15+2 1.000 - - - no_errors TDRD1 HGNC TRIL 9865 genome.wustl.edu 37 7 28995360 28995360 + RNA SNP C C T TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 7 28995360 28995360 C T SNP TRIL ENST00000322982 human ensembl 70_37 -1 known rna NULL NULL 0.973 - - - no_errors TRIL HGNC TRO 7216 genome.wustl.edu 37 X 54951467 54951467 + Missense_Mutation SNP A A G TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 X 54951467 54951467 A G SNP TRO ENST00000173898 human ensembl 70_37 +1 known missense c.1451 p.E484G 1.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC TTLL12 23170 genome.wustl.edu 37 22 43569750 43569750 + Missense_Mutation SNP T T A TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 22 43569750 43569750 T A SNP TTLL12 ENST00000216129 human ensembl 70_37 -1 known missense c.1312 p.I438F 1.000 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTLL12 HGNC WNK2 65268 genome.wustl.edu 37 9 95947670 95947670 + Missense_Mutation SNP G G T TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 9 95947670 95947670 G T SNP WNK2 ENST00000297954 human ensembl 70_37 +1 known missense c.459 p.K153N 0.624 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK2 HGNC XIST 7503 genome.wustl.edu 37 X 73044044 73044044 + RNA SNP G G A TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 X 73044044 73044044 G A SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ZNF521 25925 genome.wustl.edu 37 18 22805593 22805593 + Silent SNP G G A TCGA-JW-A5VG-01A-11D-A28B-09 TCGA-JW-A5VG-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abc2974a-e46f-4080-8dea-49c60ee75673 7d2b2722-22bc-4ac7-aea3-0040394413c0 18 22805593 22805593 G A SNP ZNF521 ENST00000361524 human ensembl 70_37 -1 known silent c.2289 p.N763 0.018 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC