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 ABCB4 5244 genome.wustl.edu 37 7 87083892 87083892 + Silent SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 7 87083892 87083892 C T SNP ABCB4 ENST00000265723 human ensembl 70_37 -1 known silent c.303 p.S101 0.980 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB4 HGNC ABCD3 5825 genome.wustl.edu 37 1 94983783 94983783 + RNA SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 1 94983783 94983783 C T SNP ABCD3 ENST00000464165 human ensembl 70_37 +1 known rna NULL NULL 0.143 - - - no_errors ABCD3 HGNC ACSM5 54988 genome.wustl.edu 37 16 20441034 20441034 + Missense_Mutation SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 16 20441034 20441034 G A SNP ACSM5 ENST00000331849 human ensembl 70_37 +1 known missense c.1036 p.G346R 0.996 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM5 HGNC ADAMDEC1 27299 genome.wustl.edu 37 8 24256534 24256534 + Missense_Mutation SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 8 24256534 24256534 G A SNP ADAMDEC1 ENST00000256412 human ensembl 70_37 +1 known missense c.910 p.D304N 0.964 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAMDEC1 HGNC AIF1 199 genome.wustl.edu 37 6 31584177 31584177 + Missense_Mutation SNP G G C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 6 31584177 31584177 G C SNP AIF1 ENST00000376059 human ensembl 70_37 +1 known missense c.253 p.E85Q 1.000 NULL pfscan_EF_HAND_2 - no_errors AIF1 HGNC ALOX12B 242 genome.wustl.edu 37 17 7982836 7982836 + Missense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 17 7982836 7982836 C T SNP ALOX12B ENST00000319144 human ensembl 70_37 -1 known missense c.949 p.D317N 1.000 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_C,prints_LipOase_mml - no_errors ALOX12B HGNC ALS2CR11 151254 genome.wustl.edu 37 2 202352336 202352336 + Silent SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 2 202352336 202352336 C T SNP ALS2CR11 ENST00000286195 human ensembl 70_37 -1 known silent c.1871 p.*624 0.945 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors ALS2CR11 HGNC AMZ2P1 201283 genome.wustl.edu 37 17 62969586 62969586 + RNA SNP G G C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 17 62969586 62969586 G C SNP AMZ2P1 ENST00000397713 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AMZ2P1 HGNC ANK2 287 genome.wustl.edu 37 4 114279594 114279594 + Missense_Mutation SNP C C A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 4 114279594 114279594 C A SNP ANK2 ENST00000357077 human ensembl 70_37 +1 known missense c.9820 p.P3274T 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC AP3B2 8120 genome.wustl.edu 37 15 83349469 83349469 + Silent SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 15 83349469 83349469 G A SNP AP3B2 ENST00000261722 human ensembl 70_37 -1 known silent c.810 p.Y270 0.891 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta - no_errors AP3B2 HGNC APOBEC3G 60489 genome.wustl.edu 37 22 39482545 39482545 + Missense_Mutation SNP G G T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 22 39482545 39482545 G T SNP APOBEC3G ENST00000407997 human ensembl 70_37 +1 known missense c.997 p.A333S 0.049 pfam_APOBEC_C,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3G HGNC ATP8B5P 158381 genome.wustl.edu 37 9 35450348 35450348 + RNA SNP G G T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 9 35450348 35450348 G T SNP ATP8B5P ENST00000430846 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ATP8B5P HGNC BAIAP2L1 55971 genome.wustl.edu 37 7 97937178 97937178 + Missense_Mutation SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 7 97937178 97937178 G A SNP BAIAP2L1 ENST00000005260 human ensembl 70_37 -1 known missense c.986 p.S329L 0.999 NULL pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2L1 HGNC BDP1 55814 genome.wustl.edu 37 5 70806373 70806373 + Missense_Mutation SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 5 70806373 70806373 G A SNP BDP1 ENST00000358731 human ensembl 70_37 +1 known missense c.3454 p.E1152K 0.368 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC CACNA2D4 93589 genome.wustl.edu 37 12 1992068 1992068 + Missense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 12 1992068 1992068 C T SNP CACNA2D4 ENST00000382722 human ensembl 70_37 -1 known missense c.1450 p.D484N 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D4 HGNC CAMSAP2 23271 genome.wustl.edu 37 1 200818630 200818630 + Missense_Mutation SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 1 200818630 200818630 G A SNP CAMSAP2 ENST00000236925 human ensembl 70_37 +1 known missense c.2766 p.M922I 1.000 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC CCDC13 152206 genome.wustl.edu 37 3 42777313 42777313 + Silent SNP C C G TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 3 42777313 42777313 C G SNP CCDC13 ENST00000310232 human ensembl 70_37 -1 known silent c.1257 p.L419 0.011 NULL superfamily_Prefoldin - no_errors CCDC13 HGNC CDH23 64072 genome.wustl.edu 37 10 73472508 73472508 + Silent SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 10 73472508 73472508 C T SNP CDH23 ENST00000224721 human ensembl 70_37 +1 known silent c.3316 p.L1106 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC CENPF 1063 genome.wustl.edu 37 1 214820477 214820477 + Missense_Mutation SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 1 214820477 214820477 G A SNP CENPF ENST00000366955 human ensembl 70_37 +1 known missense c.7564 p.E2522K 0.835 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd - no_errors CENPF HGNC CNKSR2 22866 genome.wustl.edu 37 X 21444770 21444770 + Missense_Mutation SNP T T C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 X 21444770 21444770 T C SNP CNKSR2 ENST00000379510 human ensembl 70_37 +1 known missense c.220 p.C74R 1.000 superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR2 HGNC CNOT8 9337 genome.wustl.edu 37 5 154242942 154242943 + Frame_Shift_Ins INS - - TTATA TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 5 154242942 154242943 - TTATA INS CNOT8 ENST00000285896 human ensembl 70_37 +1 known frame_shift_ins c.104_105 p.A38fs 1.000:1.000 pfam_RNase_CAF1,superfamily_RNaseH-like_dom pfam_RNase_CAF1,superfamily_RNaseH-like_dom - no_errors CNOT8 HGNC CNTN4 152330 genome.wustl.edu 37 3 3084769 3084769 + Missense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 3 3084769 3084769 C T SNP CNTN4 ENST00000397461 human ensembl 70_37 +1 known missense c.2620 p.H874Y 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 - no_errors CNTN4 HGNC COL4A2 1284 genome.wustl.edu 37 13 111155758 111155758 + Silent SNP G G T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 13 111155758 111155758 G T SNP COL4A2 ENST00000360467 human ensembl 70_37 +1 known silent c.4068 p.G1356 0.041 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A2 HGNC DAPK1 1612 genome.wustl.edu 37 9 90296363 90296363 + Silent SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 9 90296363 90296363 G A SNP DAPK1 ENST00000469640 human ensembl 70_37 +1 known silent c.2046 p.Q682 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC DCHS2 54798 genome.wustl.edu 37 4 155161743 155161743 + Silent SNP G G T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 4 155161743 155161743 G T SNP DCHS2 ENST00000357232 human ensembl 70_37 -1 known silent c.5940 p.V1980 0.681 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC DNHD1 144132 genome.wustl.edu 37 11 6566173 6566173 + Missense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 11 6566173 6566173 C T SNP DNHD1 ENST00000254579 human ensembl 70_37 +1 known missense c.4004 p.S1335L 0.026 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_t-SNARE - no_errors DNHD1 HGNC DSP 1832 genome.wustl.edu 37 6 7566637 7566637 + Missense_Mutation SNP G G C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 6 7566637 7566637 G C SNP DSP ENST00000379802 human ensembl 70_37 +1 known missense c.967 p.E323Q 1.000 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC EMX2 2018 genome.wustl.edu 37 10 119302808 119302808 + Silent SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 10 119302808 119302808 C T SNP EMX2 ENST00000369201 human ensembl 70_37 +1 known silent c.30 p.F10 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_HTH_motif - no_errors EMX2 HGNC ENSG00000210154 0 genome.wustl.edu 37 MT 7538 7538 + RNA SNP T T C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 MT 7538 7538 T C SNP ENSG00000210154 ENST00000387419 human ensembl 70_37 +1 novel rna NULL NULL NULL - - - no_errors J01415.13 Clone_based_ensembl_gene ENSG00000210176 0 genome.wustl.edu 37 MT 12164 12164 + RNA SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 MT 12164 12164 G A SNP ENSG00000210176 ENST00000387441 human ensembl 70_37 +1 novel rna NULL NULL NULL - - - no_errors J01415.17 Clone_based_ensembl_gene ENSG00000216154 0 genome.wustl.edu 37 4 123928797 123928797 + RNA DEL A A - TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 4 123928797 123928797 A - DEL ENSG00000216154 ENST00000401335 human ensembl 70_37 -1 novel rna NULL NULL 0.003 - - - no_errors AC109357.1 Clone_based_ensembl_gene ENSG00000221743 0 genome.wustl.edu 37 6 36108355 36108355 + RNA SNP G G C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 6 36108355 36108355 G C SNP ENSG00000221743 ENST00000408816 human ensembl 70_37 -1 novel rna NULL NULL 0.080 - - - no_errors Z95152.1 Clone_based_ensembl_gene ENSG00000225914 0 genome.wustl.edu 37 6 32231726 32231727 + RNA INS - - T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 6 32231726 32231727 - T INS ENSG00000225914 ENST00000425033 human ensembl 70_37 +1 known rna NULL NULL 0.372:0.374 - - - no_errors XXbac-BPG154L12.4 Clone_based_vega_gene ENSG00000231731 0 genome.wustl.edu 37 2 128247262 128247262 + RNA DEL A A - TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 2 128247262 128247262 A - DEL ENSG00000231731 ENST00000454503 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC010976.2 Clone_based_vega_gene ENSG00000242962 0 genome.wustl.edu 37 15 23443813 23443813 + RNA SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 15 23443813 23443813 C T SNP ENSG00000242962 ENST00000488468 human ensembl 70_37 +1 novel rna NULL NULL 0.009 - - - no_errors Metazoa_SRP RFAM ENSG00000250026 0 genome.wustl.edu 37 4 69083668 69083668 + RNA SNP A A T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 4 69083668 69083668 A T SNP ENSG00000250026 ENST00000504453 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors RP11-453E17.3 Clone_based_vega_gene ENSG00000263307 0 genome.wustl.edu 37 16 11945509 11945509 + RNA SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 16 11945509 11945509 C T SNP ENSG00000263307 ENST00000574364 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-166B2.8 Clone_based_vega_gene ESPNP 284729 genome.wustl.edu 37 1 17023009 17023009 + RNA SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 1 17023009 17023009 G A SNP ESPNP ENST00000492551 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ESPNP HGNC EXOC3L2 90332 genome.wustl.edu 37 19 45728159 45728159 + Silent SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 19 45728159 45728159 C T SNP EXOC3L2 ENST00000252482 human ensembl 70_37 -1 known silent c.417 p.E139 0.999 pfam_Sec6 pfam_Sec6,superfamily_Tet_transcr_reg_TetR-rel_C - no_errors EXOC3L2 HGNC FAM13B 51306 genome.wustl.edu 37 5 137323274 137323274 + Nonsense_Mutation SNP C C A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 5 137323274 137323274 C A SNP FAM13B ENST00000033079 human ensembl 70_37 -1 known nonsense c.922 p.E308* 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13B HGNC FAM35A 54537 genome.wustl.edu 37 10 88911700 88911700 + Missense_Mutation SNP G G C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 10 88911700 88911700 G C SNP FAM35A ENST00000298786 human ensembl 70_37 +1 known missense c.589 p.E197Q 0.000 NULL NULL - no_errors FAM35A HGNC FAT4 79633 genome.wustl.edu 37 4 126372317 126372317 + Silent SNP A A G TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 4 126372317 126372317 A G SNP FAT4 ENST00000394329 human ensembl 70_37 +1 known silent c.10146 p.R3382 0.038 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC FBLN7 129804 genome.wustl.edu 37 2 112933425 112933425 + RNA SNP C C G TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 2 112933425 112933425 C G SNP FBLN7 ENST00000472377 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors FBLN7 HGNC FGFRL1 53834 genome.wustl.edu 37 4 1018825 1018827 + In_Frame_Del DEL AGA AGA - TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 4 1018825 1018827 AGA - DEL FGFRL1 ENST00000264748 human ensembl 70_37 +1 known in_frame_del c.1205_1207 p.K404in_frame_del 1.000:1.000:1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FGFRL1 HGNC FYCO1 79443 genome.wustl.edu 37 3 46009302 46009302 + Silent SNP G G T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 3 46009302 46009302 G T SNP FYCO1 ENST00000535325 human ensembl 70_37 -1 known silent c.1524 p.V508 0.036 superfamily_Prefoldin pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors FYCO1 HGNC GALNT1 2589 genome.wustl.edu 37 18 33257664 33257664 + Missense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 18 33257664 33257664 C T SNP GALNT1 ENST00000269195 human ensembl 70_37 +1 known missense c.424 p.R142C 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT1 HGNC GFM1 85476 genome.wustl.edu 37 3 158399891 158399891 + Missense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 3 158399891 158399891 C T SNP GFM1 ENST00000486715 human ensembl 70_37 +1 known missense c.1709 p.S570L 0.090 pfam_Transl_elong_EFG/EF2_IV,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV,tigrfam_Transl_elong_EFG/EF2 pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom - no_errors GFM1 HGNC GP1BA 2811 genome.wustl.edu 37 17 4837790 4837790 + Silent SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 17 4837790 4837790 C T SNP GP1BA ENST00000329125 human ensembl 70_37 +1 known silent c.1891 p.L631 0.984 NULL 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 GP1BA HGNC GPR112 139378 genome.wustl.edu 37 X 135431359 135431359 + Missense_Mutation SNP T T A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 X 135431359 135431359 T A SNP GPR112 ENST00000370652 human ensembl 70_37 +1 known missense c.5494 p.S1832T 0.009 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC GPR124 25960 genome.wustl.edu 37 8 37691313 37691313 + Missense_Mutation SNP G G C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 8 37691313 37691313 G C SNP GPR124 ENST00000412232 human ensembl 70_37 +1 known missense c.1404 p.Q468H 1.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like - no_errors GPR124 HGNC GPR132 29933 genome.wustl.edu 37 14 105517706 105517706 + Silent SNP G G C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 14 105517706 105517706 G C SNP GPR132 ENST00000329797 human ensembl 70_37 -1 known silent c.768 p.A256 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_G2A_lysphc_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors GPR132 HGNC GPR32 2854 genome.wustl.edu 37 19 51274851 51274851 + Missense_Mutation SNP A A C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 19 51274851 51274851 A C SNP GPR32 ENST00000270590 human ensembl 70_37 +1 known missense c.994 p.T332P 0.018 prints_Frt_met_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Frt_met_rcpt - no_errors GPR32 HGNC GRIPAP1 56850 genome.wustl.edu 37 X 48839723 48839723 + Missense_Mutation SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 X 48839723 48839723 G A SNP GRIPAP1 ENST00000376441 human ensembl 70_37 -1 known missense c.1402 p.R468C 0.997 NULL superfamily_Prefoldin - no_errors GRIPAP1 HGNC GZMM 3004 genome.wustl.edu 37 19 549708 549708 + Missense_Mutation SNP A A C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 19 549708 549708 A C SNP GZMM ENST00000264553 human ensembl 70_37 +1 known missense c.691 p.T231P 0.001 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors GZMM HGNC HIST1H3C 8352 genome.wustl.edu 37 6 26045675 26045675 + Missense_Mutation SNP G G T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 6 26045675 26045675 G T SNP HIST1H3C ENST00000540144 human ensembl 70_37 +1 known missense c.37 p.G13C 1.000 superfamily_Histone-fold,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3C HGNC HIVEP2 3097 genome.wustl.edu 37 6 143081676 143081676 + Missense_Mutation SNP C C G TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 6 143081676 143081676 C G SNP HIVEP2 ENST00000012134 human ensembl 70_37 -1 known missense c.5749 p.D1917H 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC HIVEP2 3097 genome.wustl.edu 37 6 143081724 143081724 + Missense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 6 143081724 143081724 C T SNP HIVEP2 ENST00000012134 human ensembl 70_37 -1 known missense c.5701 p.E1901K 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC IGSF3 3321 genome.wustl.edu 37 1 117122285 117122286 + In_Frame_Ins INS - - TCC TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 1 117122285 117122286 - TCC INS IGSF3 ENST00000318837 human ensembl 70_37 -1 known in_frame_ins c.3123_3122 p.1041in_frame_insE 0.040:0.030 smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGSF3 HGNC INCENP 3619 genome.wustl.edu 37 11 61914275 61914275 + Missense_Mutation SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 11 61914275 61914275 G A SNP INCENP ENST00000394818 human ensembl 70_37 +1 known missense c.2105 p.R702Q 0.002 NULL pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd - no_errors INCENP HGNC INCENP 3619 genome.wustl.edu 37 11 61914294 61914294 + Silent SNP G G C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 11 61914294 61914294 G C SNP INCENP ENST00000394818 human ensembl 70_37 +1 known silent c.2124 p.R708 0.000 NULL pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd - no_errors INCENP HGNC JAKMIP1 152789 genome.wustl.edu 37 4 6037659 6037659 + Missense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 4 6037659 6037659 C T SNP JAKMIP1 ENST00000409021 human ensembl 70_37 -1 known missense c.2351 p.R784H 1.000 NULL NULL - no_errors JAKMIP1 HGNC KALRN 8997 genome.wustl.edu 37 3 124132404 124132404 + Missense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 3 124132404 124132404 C T SNP KALRN ENST00000360013 human ensembl 70_37 +1 known missense c.2428 p.R810W 1.000 NULL pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors KALRN HGNC KCNH8 131096 genome.wustl.edu 37 3 19295170 19295170 + Missense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 3 19295170 19295170 C T SNP KCNH8 ENST00000328405 human ensembl 70_37 +1 known missense c.101 p.A34V 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH8 HGNC KCNJ4 3761 genome.wustl.edu 37 22 38823295 38823295 + Silent SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 22 38823295 38823295 C T SNP KCNJ4 ENST00000303592 human ensembl 70_37 -1 known silent c.843 p.S281 0.312 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.3 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_Kir2.3 - no_errors KCNJ4 HGNC KRAS 3845 genome.wustl.edu 37 12 25378562 25378562 + Missense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 12 25378562 25378562 C T SNP KRAS ENST00000256078 human ensembl 70_37 -1 known missense c.436 p.A146T 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors KRAS HGNC KRTAP2-1 81872 genome.wustl.edu 37 17 39203143 39203143 + Missense_Mutation SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 17 39203143 39203143 G A SNP KRTAP2-1 ENST00000391419 human ensembl 70_37 -1 known missense c.377 p.S126F 0.030 NULL pfam_Keratin-assoc - no_errors KRTAP2-1 HGNC LANCL2 55915 genome.wustl.edu 37 7 55499004 55499004 + Missense_Mutation SNP G G C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 7 55499004 55499004 G C SNP LANCL2 ENST00000254770 human ensembl 70_37 +1 known missense c.1344 p.K448N 0.285 NULL pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk,prints_LANC-like - no_errors LANCL2 HGNC LARP1B 55132 genome.wustl.edu 37 4 129012266 129012266 + Missense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 4 129012266 129012266 C T SNP LARP1B ENST00000326639 human ensembl 70_37 +1 known missense c.469 p.R157W 0.987 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1B HGNC LOC100996307 100996307 genome.wustl.edu 37 19 42989362 42989362 + RNA SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 19 42989362 42989362 C T SNP LOC100996307 ENST00000457234 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CTB-50E14.6 Clone_based_vega_gene LOC101060424 101060424 genome.wustl.edu 37 16 22588020 22588020 + RNA SNP G G T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 16 22588020 22588020 G T SNP LOC101060424 ENST00000550753 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors RP11-368J21.3 Clone_based_vega_gene LRSAM1 90678 genome.wustl.edu 37 9 130257620 130257620 + Missense_Mutation SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 9 130257620 130257620 G A SNP LRSAM1 ENST00000300417 human ensembl 70_37 +1 known missense c.1621 p.E541K 0.999 NULL pfam_Leu-rich_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_PTS_PEP_utilis_N,smart_Leu-rich_rpt_typical-subtyp,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors LRSAM1 HGNC MEOX2 4223 genome.wustl.edu 37 7 15725877 15725877 + Missense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 7 15725877 15725877 C T SNP MEOX2 ENST00000262041 human ensembl 70_37 -1 known missense c.151 p.A51T 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors MEOX2 HGNC MERTK 10461 genome.wustl.edu 37 2 112761481 112761481 + Missense_Mutation SNP G G T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 2 112761481 112761481 G T SNP MERTK ENST00000295408 human ensembl 70_37 +1 known missense c.1787 p.G596V 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Rhodanese-like_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MERTK HGNC MICALL2 79778 genome.wustl.edu 37 7 1479617 1479617 + Missense_Mutation SNP G G T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 7 1479617 1479617 G T SNP MICALL2 ENST00000297508 human ensembl 70_37 -1 known missense c.1910 p.T637N 0.001 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICALL2 HGNC MIR1204 100302185 genome.wustl.edu 37 8 128808236 128808236 + RNA SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 8 128808236 128808236 G A SNP MIR1204 ENST00000408388 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors MIR1204 HGNC MIR133A1 406922 genome.wustl.edu 37 18 19409106 19409106 + RNA SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 18 19409106 19409106 G A SNP MIR133A1 ENST00000581072 human ensembl 70_37 -1 known rna NULL NULL 0.031 - - - no_errors hsa-mir-133a-1 miRBase MRPS31P5 100887750 genome.wustl.edu 37 13 52809355 52809355 + RNA SNP C C A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 13 52809355 52809355 C A SNP MRPS31P5 ENST00000422308 human ensembl 70_37 -1 known rna NULL NULL 0.989 - - - no_errors RP11-64P12.8 Clone_based_vega_gene MSC 9242 genome.wustl.edu 37 8 72754893 72754893 + RNA SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 8 72754893 72754893 G A SNP MSC ENST00000518440 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors MSC HGNC MYO5B 4645 genome.wustl.edu 37 18 47363917 47363917 + Missense_Mutation SNP A A G TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 18 47363917 47363917 A G SNP MYO5B ENST00000285039 human ensembl 70_37 -1 known missense c.5108 p.V1703A 1.000 pfam_Dil_domain,pfscan_Dilute pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5B HGNC NCKIPSD 51517 genome.wustl.edu 37 3 48719192 48719192 + Missense_Mutation SNP G G T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 3 48719192 48719192 G T SNP NCKIPSD ENST00000294129 human ensembl 70_37 -1 known missense c.620 p.S207Y 0.141 NULL pfam_DUF2013,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NCKIPSD HGNC NDUFAF4 29078 genome.wustl.edu 37 6 97345680 97345680 + RNA SNP C C G TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 6 97345680 97345680 C G SNP NDUFAF4 ENST00000489477 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors NDUFAF4 HGNC NIPBL 25836 genome.wustl.edu 37 5 37006623 37006623 + Silent SNP T T A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 5 37006623 37006623 T A SNP NIPBL ENST00000282516 human ensembl 70_37 +1 known silent c.4020 p.T1340 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC NIPBL 25836 genome.wustl.edu 37 5 37006624 37006624 + Nonsense_Mutation SNP A A T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 5 37006624 37006624 A T SNP NIPBL ENST00000282516 human ensembl 70_37 +1 known nonsense c.4021 p.K1341* 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC NLGN4X 57502 genome.wustl.edu 37 X 5821213 5821213 + Silent SNP G G T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 X 5821213 5821213 G T SNP NLGN4X ENST00000381093 human ensembl 70_37 -1 known silent c.1566 p.I522 0.742 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC NOX3 50508 genome.wustl.edu 37 6 155775958 155775958 + Missense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 6 155775958 155775958 C T SNP NOX3 ENST00000159060 human ensembl 70_37 -1 known missense c.242 p.R81K 1.000 pfam_Fe3_Rdtase_TM_dom pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX3 HGNC NPAP1 23742 genome.wustl.edu 37 15 24921639 24921639 + Missense_Mutation SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 15 24921639 24921639 G A SNP NPAP1 ENST00000329468 human ensembl 70_37 +1 known missense c.625 p.E209K 0.000 NULL NULL - no_errors NPAP1 HGNC OR10K1 391109 genome.wustl.edu 37 1 158436055 158436055 + Missense_Mutation SNP A A G TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 1 158436055 158436055 A G SNP OR10K1 ENST00000289451 human ensembl 70_37 +1 known missense c.704 p.Y235C 0.909 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10K1 HGNC OR11L1 391189 genome.wustl.edu 37 1 248004471 248004471 + Missense_Mutation SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 1 248004471 248004471 G A SNP OR11L1 ENST00000355784 human ensembl 70_37 -1 known missense c.728 p.S243F 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11L1 HGNC OR7E19P 26651 genome.wustl.edu 37 19 9376479 9376479 + RNA SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 19 9376479 9376479 C T SNP OR7E19P ENST00000588789 human ensembl 70_37 -1 known rna NULL NULL 0.020 - - - no_errors OR7E19P HGNC OTUD5 55593 genome.wustl.edu 37 X 48781175 48781175 + Missense_Mutation SNP G G T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 X 48781175 48781175 G T SNP OTUD5 ENST00000156084 human ensembl 70_37 -1 known missense c.1433 p.P478Q 1.000 NULL pfam_OTU,pfscan_OTU - no_errors OTUD5 HGNC PCSK9 255738 genome.wustl.edu 37 1 55505538 55505539 + Frame_Shift_Ins INS - - GA TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 1 55505538 55505539 - GA INS PCSK9 ENST00000302118 human ensembl 70_37 +1 known frame_shift_ins c.28_29 p.W10fs 0.000:0.154 NULL pfam_Peptidase_S8/S53,pfam_Inhibitor_I9,superfamily_Peptidase_S8/S53,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK9 HGNC PHLPP1 23239 genome.wustl.edu 37 18 60646371 60646371 + Missense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 18 60646371 60646371 C T SNP PHLPP1 ENST00000262719 human ensembl 70_37 +1 known missense c.4861 p.R1621W 0.756 NULL pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like,pfscan_Pleckstrin_homology - no_errors PHLPP1 HGNC PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC PIK3R3 8503 genome.wustl.edu 37 1 46512229 46512229 + Missense_Mutation SNP G G C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 1 46512229 46512229 G C SNP PIK3R3 ENST00000540385 human ensembl 70_37 -1 known missense c.1148 p.A383G 0.991 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R3 HGNC PKD1 5310 genome.wustl.edu 37 16 2152631 2152631 + Missense_Mutation SNP G G C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 16 2152631 2152631 G C SNP PKD1 ENST00000262304 human ensembl 70_37 -1 known missense c.8952 p.S2984R 0.006 NULL pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC PKHD1 5314 genome.wustl.edu 37 6 51503660 51503660 + Silent SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 6 51503660 51503660 G A SNP PKHD1 ENST00000371117 human ensembl 70_37 -1 known silent c.11493 p.V3831 0.775 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC PLGLB1 5343 genome.wustl.edu 37 2 87240096 87240096 + RNA SNP G G C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 2 87240096 87240096 G C SNP PLGLB1 ENST00000478636 human ensembl 70_37 -1 known rna NULL NULL 0.112 - - - no_errors PLGLB1 HGNC POLN 353497 genome.wustl.edu 37 4 2176453 2176453 + Missense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 4 2176453 2176453 C T SNP POLN ENST00000382865 human ensembl 70_37 -1 known missense c.1274 p.R425H 0.998 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA_polymerase_A - no_errors POLN HGNC PRAMEF4 400735 genome.wustl.edu 37 1 12941742 12941742 + Missense_Mutation SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 1 12941742 12941742 G A SNP PRAMEF4 ENST00000235349 human ensembl 70_37 -1 known missense c.808 p.R270C 0.000 NULL NULL - no_errors PRAMEF4 HGNC PRICKLE2 166336 genome.wustl.edu 37 3 64133026 64133026 + Missense_Mutation SNP G G T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 3 64133026 64133026 G T SNP PRICKLE2 ENST00000295902 human ensembl 70_37 -1 known missense c.1140 p.S380R 1.000 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE2 HGNC PRRG1 5638 genome.wustl.edu 37 X 37208597 37208597 + RNA SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 X 37208597 37208597 G A SNP PRRG1 ENST00000491253 human ensembl 70_37 +1 known rna NULL NULL 0.994 - - - no_errors PRRG1 HGNC PSD 5662 genome.wustl.edu 37 10 104164743 104164743 + Missense_Mutation SNP G G T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 10 104164743 104164743 G T SNP PSD ENST00000020673 human ensembl 70_37 -1 known missense c.2467 p.L823M 0.962 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type - no_errors PSD HGNC PTPN23 25930 genome.wustl.edu 37 3 47454054 47454054 + Silent SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 3 47454054 47454054 C T SNP PTPN23 ENST00000265562 human ensembl 70_37 +1 known silent c.4368 p.V1456 0.995 NULL pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_BRO1_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC RABGGTB 5876 genome.wustl.edu 37 1 76252883 76252883 + RNA SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 1 76252883 76252883 C T SNP RABGGTB ENST00000471759 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors RABGGTB HGNC RABL2A 11159 genome.wustl.edu 37 2 114386172 114386172 + RNA SNP A A G TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 2 114386172 114386172 A G SNP RABL2A ENST00000465711 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RABL2A HGNC RAPGEF6 51735 genome.wustl.edu 37 5 130883758 130883758 + Silent SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 5 130883758 130883758 C T SNP RAPGEF6 ENST00000509018 human ensembl 70_37 -1 known silent c.477 p.E159 0.460 NULL pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF6 HGNC REG1P 5969 genome.wustl.edu 37 2 79363999 79363999 + RNA SNP C C G TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 2 79363999 79363999 C G SNP REG1P ENST00000377435 human ensembl 70_37 -1 known rna NULL NULL 0.012 - - - no_errors REG1P HGNC RGPD4 285190 genome.wustl.edu 37 2 108479165 108479165 + Missense_Mutation SNP G G C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 2 108479165 108479165 G C SNP RGPD4 ENST00000354986 human ensembl 70_37 +1 known missense c.2233 p.E745Q 1.000 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC RPRD2 23248 genome.wustl.edu 37 1 150413444 150413444 + Missense_Mutation SNP G G T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 1 150413444 150413444 G T SNP RPRD2 ENST00000369068 human ensembl 70_37 +1 known missense c.381 p.W127C 1.000 pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_RNA_polymerase_II_lsu_CTD - no_errors RPRD2 HGNC RUVBL1 8607 genome.wustl.edu 37 3 127817765 127817765 + Missense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 3 127817765 127817765 C T SNP RUVBL1 ENST00000322623 human ensembl 70_37 -1 known missense c.777 p.M259I 1.000 pfam_TIP49_C,smart_AAA+_ATPase pfam_TIP49_C,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA_core,superfamily_NA-bd_OB-fold-like,smart_AAA+_ATPase - no_errors RUVBL1 HGNC SAP130 79595 genome.wustl.edu 37 2 128774091 128774091 + Missense_Mutation SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 2 128774091 128774091 G A SNP SAP130 ENST00000357702 human ensembl 70_37 -1 known missense c.457 p.P153S 1.000 NULL NULL - no_errors SAP130 HGNC SBNO2 22904 genome.wustl.edu 37 19 1117401 1117401 + Missense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 19 1117401 1117401 C T SNP SBNO2 ENST00000361757 human ensembl 70_37 -1 known missense c.1625 p.R542H 1.000 NULL NULL - no_errors SBNO2 HGNC SCNN1D 6339 genome.wustl.edu 37 1 1221039 1221039 + Missense_Mutation SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 1 1221039 1221039 G A SNP SCNN1D ENST00000379116 human ensembl 70_37 +1 known missense c.553 p.G185S 0.000 NULL pfam_Na+channel_ASC,superfamily_FH2_actin-bd,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1D HGNC SERPINB5 5268 genome.wustl.edu 37 18 61156662 61156662 + Missense_Mutation SNP G G T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 18 61156662 61156662 G T SNP SERPINB5 ENST00000382771 human ensembl 70_37 +1 known missense c.389 p.G130V 0.001 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin - no_errors SERPINB5 HGNC SH2D7 646892 genome.wustl.edu 37 15 78385042 78385042 + Missense_Mutation SNP C C A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 15 78385042 78385042 C A SNP SH2D7 ENST00000328828 human ensembl 70_37 +1 novel missense c.116 p.A39D 1.000 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2D7 HGNC SLC19A3 80704 genome.wustl.edu 37 2 228563510 228563510 + Silent SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 2 228563510 228563510 C T SNP SLC19A3 ENST00000258403 human ensembl 70_37 -1 known silent c.921 p.A307 0.991 pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A3 HGNC SLC6A8 6535 genome.wustl.edu 37 X 152957007 152957007 + Nonsense_Mutation SNP G G T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 X 152957007 152957007 G T SNP SLC6A8 ENST00000253122 human ensembl 70_37 +1 known nonsense c.643 p.E215* 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_creatine - no_errors SLC6A8 HGNC SNRPD1 6632 genome.wustl.edu 37 18 19203860 19203860 + Missense_Mutation SNP G G C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 18 19203860 19203860 G C SNP SNRPD1 ENST00000579618 human ensembl 70_37 +1 putative missense c.116 p.W39S 1.000 NULL pfam_Ribonucl_LSM,superfamily_LSM_dom - no_errors SNRPD1 HGNC SPECC1L 23384 genome.wustl.edu 37 22 24698198 24698198 + RNA SNP G G C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 22 24698198 24698198 G C SNP SPECC1L ENST00000416735 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SPECC1L HGNC SPRY3 10251 genome.wustl.edu 37 X 155003760 155003760 + Missense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 X 155003760 155003760 C T SNP SPRY3 ENST00000302805 human ensembl 70_37 +1 known missense c.227 p.P76L 0.998 NULL pfam_Sprouty - no_errors SPRY3 HGNC SPTLC1 10558 genome.wustl.edu 37 9 94830364 94830364 + Silent SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 9 94830364 94830364 C T SNP SPTLC1 ENST00000262554 human ensembl 70_37 -1 known silent c.444 p.L148 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors SPTLC1 HGNC STK32B 55351 genome.wustl.edu 37 4 5458637 5458637 + Missense_Mutation SNP C C G TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 4 5458637 5458637 C G SNP STK32B ENST00000282908 human ensembl 70_37 +1 known missense c.770 p.A257G 0.996 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK32B HGNC SYMPK 8189 genome.wustl.edu 37 19 46331136 46331136 + Missense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 19 46331136 46331136 C T SNP SYMPK ENST00000245934 human ensembl 70_37 -1 known missense c.2026 p.E676K 1.000 superfamily_ARM-type_fold pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold - no_errors SYMPK HGNC TAS1R3 83756 genome.wustl.edu 37 1 1268706 1268706 + Missense_Mutation SNP C C G TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 1 1268706 1268706 C G SNP TAS1R3 ENST00000339381 human ensembl 70_37 +1 known missense c.1547 p.S516C 1.000 pfam_GPCR_3_9-Cys_dom pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R3 HGNC TEX2 55852 genome.wustl.edu 37 17 62291462 62291462 + Missense_Mutation SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 17 62291462 62291462 G A SNP TEX2 ENST00000258991 human ensembl 70_37 -1 known missense c.116 p.S39L 1.000 NULL pfam_DUF2404 - no_errors TEX2 HGNC TMC6 11322 genome.wustl.edu 37 17 76121965 76121965 + Missense_Mutation SNP C C A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 17 76121965 76121965 C A SNP TMC6 ENST00000322914 human ensembl 70_37 -1 known missense c.272 p.G91V 1.000 NULL pfam_TMC - no_errors TMC6 HGNC TMEM175 84286 genome.wustl.edu 37 4 952031 952031 + Missense_Mutation SNP C C A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 4 952031 952031 C A SNP TMEM175 ENST00000264771 human ensembl 70_37 +1 known missense c.1262 p.A421D 1.000 NULL pfam_DUF1211_TMEM175 - no_errors TMEM175 HGNC TTC21A 199223 genome.wustl.edu 37 3 39178360 39178360 + RNA SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 3 39178360 39178360 C T SNP TTC21A ENST00000490245 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors TTC21A HGNC TULP4 56995 genome.wustl.edu 37 6 158923338 158923338 + Silent SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 6 158923338 158923338 C T SNP TULP4 ENST00000367097 human ensembl 70_37 +1 known silent c.2643 p.T881 0.998 NULL pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC USP7 7874 genome.wustl.edu 37 16 9017100 9017100 + Missense_Mutation SNP G G C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 16 9017100 9017100 G C SNP USP7 ENST00000344836 human ensembl 70_37 -1 known missense c.355 p.L119V 1.000 pfam_MATH,superfamily_TRAF-like,smart_MATH,pfscan_MATH pfam_Peptidase_C19,pfam_MATH,pfam_Pept_C19_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19 - no_errors USP7 HGNC VANGL2 57216 genome.wustl.edu 37 1 160390959 160390959 + Missense_Mutation SNP T T C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 1 160390959 160390959 T C SNP VANGL2 ENST00000368061 human ensembl 70_37 +1 known missense c.1055 p.V352A 1.000 pfam_Strabismus,pirsf_Strabismus pfam_Strabismus,pirsf_Strabismus - no_errors VANGL2 HGNC VAV2 7410 genome.wustl.edu 37 9 136649441 136649441 + Silent SNP G G C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 9 136649441 136649441 G C SNP VAV2 ENST00000371850 human ensembl 70_37 -1 known silent c.1632 p.L544 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain - no_errors VAV2 HGNC VAV3 10451 genome.wustl.edu 37 1 108292200 108292200 + Missense_Mutation SNP C C G TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 1 108292200 108292200 C G SNP VAV3 ENST00000370056 human ensembl 70_37 -1 known missense c.1276 p.D426H 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain,prints_SM22_calponin - no_errors VAV3 HGNC VCAN 1462 genome.wustl.edu 37 5 82807996 82807996 + Missense_Mutation SNP G G T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 5 82807996 82807996 G T SNP VCAN ENST00000265077 human ensembl 70_37 +1 known missense c.823 p.A275S 0.003 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors VCAN HGNC VIPR1 7433 genome.wustl.edu 37 3 42576527 42576527 + Silent SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 3 42576527 42576527 C T SNP VIPR1 ENST00000325123 human ensembl 70_37 +1 known silent c.1071 p.F357 0.130 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_VIP_rcpt_1,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt - no_errors VIPR1 HGNC WFIKKN1 117166 genome.wustl.edu 37 16 683018 683018 + Missense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 16 683018 683018 C T SNP WFIKKN1 ENST00000319070 human ensembl 70_37 +1 known missense c.608 p.A203V 1.000 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Whey_acidic_protein_4-diS_core,pfam_Kazal-type_dom,pfam_Immunoglobulin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Prot_inh_Kunz-m - no_errors WFIKKN1 HGNC ZNF230 7773 genome.wustl.edu 37 19 44514810 44514810 + Nonsense_Mutation SNP C C T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 19 44514810 44514810 C T SNP ZNF230 ENST00000429154 human ensembl 70_37 +1 known nonsense c.619 p.Q207* 0.000 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 ZNF230 HGNC ZBTB18 10472 genome.wustl.edu 37 1 244217802 244217802 + Silent SNP G G A TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 1 244217802 244217802 G A SNP ZNF238 ENST00000358704 human ensembl 70_37 +1 known silent c.726 p.S242 0.964 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 ZNF238 HGNC ZNF257 113835 genome.wustl.edu 37 19 22271066 22271066 + Missense_Mutation SNP A A T TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ad9903a1-1291-45ae-9f5b-48c6e41f5d2b a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9 19 22271066 22271066 A T SNP ZNF257 ENST00000594947 human ensembl 70_37 +1 known missense c.514 p.T172S 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF257 HGNC