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 AGBL5 60509 genome.wustl.edu 37 2 27278881 27278881 + Missense_Mutation SNP G G C TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 2 27278881 27278881 G C SNP AGBL5 ENST00000360131 human ensembl 70_37 +1 known missense c.1240 p.E414Q 0.429 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC ANKRD20A5P 440482 genome.wustl.edu 37 18 14179188 14179188 + RNA SNP T T C TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 18 14179188 14179188 T C SNP ANKRD20A5P ENST00000581181 human ensembl 70_37 +1 known rna NULL NULL 0.115 - - - no_errors ANKRD20A5P HGNC APBB1IP 54518 genome.wustl.edu 37 10 26800778 26800778 + Missense_Mutation SNP C C G TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 10 26800778 26800778 C G SNP APBB1IP ENST00000376236 human ensembl 70_37 +1 known missense c.634 p.H212D 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc - no_errors APBB1IP HGNC ARPC1A 10552 genome.wustl.edu 37 7 98951669 98951669 + Missense_Mutation SNP C C G TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 7 98951669 98951669 C G SNP ARPC1A ENST00000262942 human ensembl 70_37 +1 known missense c.638 p.S213C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ARPC1A HGNC B4GALNT1 2583 genome.wustl.edu 37 12 58020692 58020692 + Silent SNP G G A TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 12 58020692 58020692 G A SNP B4GALNT1 ENST00000341156 human ensembl 70_37 -1 known silent c.1437 p.V479 0.025 pirsf_GM2_synthase pfam_Glyco_trans_2,pirsf_GM2_synthase - no_errors B4GALNT1 HGNC BAZ1B 9031 genome.wustl.edu 37 7 72907165 72907165 + Missense_Mutation SNP G G C TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 7 72907165 72907165 G C SNP BAZ1B ENST00000339594 human ensembl 70_37 -1 known missense c.658 p.H220D 1.000 NULL pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1B HGNC BICD1 636 genome.wustl.edu 37 12 32520654 32520654 + Missense_Mutation SNP G G A TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 12 32520654 32520654 G A SNP BICD1 ENST00000281474 human ensembl 70_37 +1 known missense c.2815 p.G939R 1.000 NULL pfam_Bicaudal-D_microtubule-assoc,superfamily_SPOC-like - no_errors BICD1 HGNC BRS3 680 genome.wustl.edu 37 X 135574302 135574302 + Missense_Mutation SNP C C G TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 X 135574302 135574302 C G SNP BRS3 ENST00000370648 human ensembl 70_37 +1 known missense c.968 p.S323C 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombesin_rcpt_3,prints_Bombsn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors BRS3 HGNC C3orf67 200844 genome.wustl.edu 37 3 58898469 58898469 + Splice_Site SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 3 58898469 58898469 C T SNP C3orf67 ENST00000479931 human ensembl 70_37 -1 known splice_site c.551-1 e7-1 0.017 - - - no_errors C3orf67 HGNC CCDC64B 146439 genome.wustl.edu 37 16 3078714 3078714 + Missense_Mutation SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 16 3078714 3078714 C T SNP CCDC64B ENST00000389347 human ensembl 70_37 -1 known missense c.1225 p.E409K 0.009 NULL superfamily_Sig_transdc_His_kinase_dimeric - no_errors CCDC64B HGNC CD163 9332 genome.wustl.edu 37 12 7640251 7640251 + Missense_Mutation SNP A A C TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 12 7640251 7640251 A C SNP CD163 ENST00000359156 human ensembl 70_37 -1 known missense c.1754 p.L585W 0.116 superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors CD163 HGNC CDK17 5128 genome.wustl.edu 37 12 96717761 96717761 + Missense_Mutation SNP G G C TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 12 96717761 96717761 G C SNP CDK17 ENST00000261211 human ensembl 70_37 -1 known missense c.248 p.S83C 1.000 NULL 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 CDK17 HGNC CNIH4 29097 genome.wustl.edu 37 1 224563706 224563706 + RNA SNP G G A TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 1 224563706 224563706 G A SNP CNIH4 ENST00000468318 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CNIH4 HGNC CNNM1 26507 genome.wustl.edu 37 10 101090572 101090572 + Silent SNP G G A TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 10 101090572 101090572 G A SNP CNNM1 ENST00000356713 human ensembl 70_37 +1 known silent c.1428 p.V476 1.000 NULL pfam_DUF21,pfam_Cysta_beta_synth_core - no_errors CNNM1 HGNC CNR1 1268 genome.wustl.edu 37 6 88853991 88853991 + Missense_Mutation SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 6 88853991 88853991 C T SNP CNR1 ENST00000369499 human ensembl 70_37 -1 known missense c.1003 p.A335T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pirsf_Cnoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Cnbnoid_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Cnoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Cnoid_rcpt_1,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn - no_errors CNR1 HGNC DDX26B 203522 genome.wustl.edu 37 X 134711302 134711302 + Missense_Mutation SNP C C G TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 X 134711302 134711302 C G SNP DDX26B ENST00000370752 human ensembl 70_37 +1 known missense c.1958 p.S653W 0.995 NULL pfscan_VWF_A - no_errors DDX26B HGNC DHX8 1659 genome.wustl.edu 37 17 41585300 41585300 + Nonsense_Mutation SNP G G T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 17 41585300 41585300 G T SNP DHX8 ENST00000262415 human ensembl 70_37 +1 known nonsense c.2233 p.E745* 1.000 smart_Helicase_ATP-bd pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX8 HGNC DMBT1 1755 genome.wustl.edu 37 10 124336050 124336050 + Missense_Mutation SNP G G T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 10 124336050 124336050 G T SNP DMBT1 ENST00000368915 human ensembl 70_37 +1 known missense c.419 p.C140F 1.000 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,pfam_CUB,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_ZP_dom,prints_Srcr_rcpt - no_errors DMBT1 HGNC DST 667 genome.wustl.edu 37 6 56469029 56469029 + Missense_Mutation SNP C C G TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 6 56469029 56469029 C G SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.10298 p.R3433T 0.981 superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC DST 667 genome.wustl.edu 37 6 56480748 56480748 + Missense_Mutation SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 6 56480748 56480748 C T SNP DST ENST00000370765 human ensembl 70_37 -1 known missense c.7517 p.R2506K 0.946 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DST HGNC DUSP10 11221 genome.wustl.edu 37 1 221875661 221875662 + RNA INS - - A TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 1 221875661 221875662 - A INS DUSP10 ENST00000468085 human ensembl 70_37 -1 known rna NULL NULL 0.001:0.040 - - - no_errors DUSP10 HGNC ENSG00000189238 0 genome.wustl.edu 37 12 127229808 127229809 + RNA INS - - T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 12 127229808 127229809 - T INS ENSG00000189238 ENST00000345111 human ensembl 70_37 +1 known rna NULL NULL 0.006:0.004 - - - no_errors RP11-173C20.1 Clone_based_vega_gene ENSG00000222030 0 genome.wustl.edu 37 2 59504880 59504881 + RNA DEL TG TG - TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 2 59504880 59504881 TG - DEL ENSG00000222030 ENST00000409590 human ensembl 70_37 +1 known rna NULL NULL 0.227:0.215 - - - no_errors AC007131.1 Clone_based_vega_gene ENSG00000225946 0 genome.wustl.edu 37 7 100608201 100608201 + RNA SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 7 100608201 100608201 C T SNP ENSG00000225946 ENST00000420080 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-395B7.2 Clone_based_vega_gene ENSG00000228768 0 genome.wustl.edu 37 17 29898310 29898310 + Missense_Mutation SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 17 29898310 29898310 C T SNP ENSG00000228768 ENST00000412403 human ensembl 70_37 +1 putative missense c.146 p.A49V 0.000 NULL NULL - no_errors AC003101.1 Clone_based_vega_gene ENSG00000261409 0 genome.wustl.edu 37 X 107965690 107965690 + RNA SNP G G A TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 X 107965690 107965690 G A SNP ENSG00000261409 ENST00000564206 human ensembl 70_37 -1 known rna NULL NULL 0.014 - - - no_errors RP6-24A23.7 Clone_based_vega_gene ENSG00000264132 0 genome.wustl.edu 37 7 102120598 102120598 + RNA SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 7 102120598 102120598 C T SNP ENSG00000264132 ENST00000583109 human ensembl 70_37 +1 novel rna NULL NULL 0.168 - - - no_errors AC093668.4 Clone_based_ensembl_gene ERC2 26059 genome.wustl.edu 37 3 56207477 56207477 + Missense_Mutation SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 3 56207477 56207477 C T SNP ERC2 ENST00000288221 human ensembl 70_37 -1 known missense c.1146 p.M382I 1.000 pfam_CAZ_cplx_RIM-bd_prot pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin - no_errors ERC2 HGNC ESYT3 83850 genome.wustl.edu 37 3 138195301 138195301 + Nonsense_Mutation SNP C C G TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 3 138195301 138195301 C G SNP ESYT3 ENST00000389567 human ensembl 70_37 +1 known nonsense c.2591 p.S864* 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom - no_errors ESYT3 HGNC ETV6 2120 genome.wustl.edu 37 12 12037483 12037483 + Missense_Mutation SNP G G C TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 12 12037483 12037483 G C SNP ETV6 ENST00000396373 human ensembl 70_37 +1 known missense c.1114 p.D372H 1.000 pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets - no_errors ETV6 HGNC EVPL 2125 genome.wustl.edu 37 17 74006158 74006158 + Missense_Mutation SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 17 74006158 74006158 C T SNP EVPL ENST00000301607 human ensembl 70_37 -1 known missense c.3128 p.R1043H 0.001 NULL pfam_Plectin_repeat,superfamily_Ferritin/RNR-like,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC EYS 346007 genome.wustl.edu 37 6 65707507 65707507 + Missense_Mutation SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 6 65707507 65707507 C T SNP EYS ENST00000370616 human ensembl 70_37 -1 known missense c.2227 p.E743K 0.979 smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC GFRA1 2674 genome.wustl.edu 37 10 118031536 118031536 + Missense_Mutation SNP G G C TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 10 118031536 118031536 G C SNP GFRA1 ENST00000439649 human ensembl 70_37 -1 known missense c.6 p.F2L 1.000 pirsf_Glial_neurotroph_fac_rcpt_a1/2 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_A1 - no_errors GFRA1 HGNC HCN2 610 genome.wustl.edu 37 19 590519 590519 + Missense_Mutation SNP G G A TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 19 590519 590519 G A SNP HCN2 ENST00000251287 human ensembl 70_37 +1 known missense c.574 p.E192K 1.000 pfam_Ion_trans_N pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN2 HGNC HECTD4 283450 genome.wustl.edu 37 12 112670844 112670844 + Missense_Mutation SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 12 112670844 112670844 C T SNP HECTD4 ENST00000377560 human ensembl 70_37 -1 known missense c.5445 p.M1815I 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC HECTD4 283450 genome.wustl.edu 37 12 112670864 112670864 + Missense_Mutation SNP G G T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 12 112670864 112670864 G T SNP HECTD4 ENST00000377560 human ensembl 70_37 -1 known missense c.5425 p.L1809I 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC HOXA1 3198 genome.wustl.edu 37 7 27135385 27135385 + Silent SNP G G A TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 7 27135385 27135385 G A SNP HOXA1 ENST00000343060 human ensembl 70_37 -1 known silent c.147 p.G49 0.998 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXA1 HGNC IQGAP1 8826 genome.wustl.edu 37 15 90996474 90996474 + Silent SNP G G A TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 15 90996474 90996474 G A SNP IQGAP1 ENST00000268182 human ensembl 70_37 +1 known silent c.1437 p.L479 1.000 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP - no_errors IQGAP1 HGNC KCNK10 54207 genome.wustl.edu 37 14 88652178 88652178 + Missense_Mutation SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 14 88652178 88652178 C T SNP KCNK10 ENST00000312350 human ensembl 70_37 -1 known missense c.1333 p.E445K 1.000 NULL pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK10 HGNC KIRREL2 84063 genome.wustl.edu 37 19 36357423 36357423 + Silent SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 19 36357423 36357423 C T SNP KIRREL2 ENST00000262625 human ensembl 70_37 +1 known silent c.1887 p.I629 0.011 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors KIRREL2 HGNC LAMC3 10319 genome.wustl.edu 37 9 133914593 133914593 + Missense_Mutation SNP G G A TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 9 133914593 133914593 G A SNP LAMC3 ENST00000361069 human ensembl 70_37 +1 known missense c.1241 p.R414H 0.994 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC LRRC53 100144878 genome.wustl.edu 37 1 74946275 74946275 + Missense_Mutation SNP G G T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 1 74946275 74946275 G T SNP LRRC53 ENST00000294635 human ensembl 70_37 -1 known missense c.466 p.L156I 0.820 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC53 HGNC MALAT1 378938 genome.wustl.edu 37 11 65265397 65265397 + RNA SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 11 65265397 65265397 C T SNP MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors MALAT1 HGNC MANEA 79694 genome.wustl.edu 37 6 96034516 96034516 + Silent SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 6 96034516 96034516 C T SNP MANEA ENST00000358812 human ensembl 70_37 +1 known silent c.201 p.I67 0.002 NULL superfamily_Glycoside_hydrolase_SF - no_errors MANEA HGNC MIR519A1 574496 genome.wustl.edu 37 19 54255684 54255684 + RNA SNP C C G TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 19 54255684 54255684 C G SNP MIR519A1 ENST00000385257 human ensembl 70_37 +1 known rna NULL NULL 0.012 - - - no_errors MIR519A1 HGNC MPDZ 8777 genome.wustl.edu 37 9 13140127 13140127 + Missense_Mutation SNP C C G TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 9 13140127 13140127 C G SNP MPDZ ENST00000319217 human ensembl 70_37 -1 known missense c.3862 p.E1288Q 0.965 NULL pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC MREG 55686 genome.wustl.edu 37 2 216809669 216809669 + Nonsense_Mutation SNP G G A TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 2 216809669 216809669 G A SNP MREG ENST00000263268 human ensembl 70_37 -1 known nonsense c.562 p.R188* 0.683 NULL NULL - no_errors MREG HGNC MUC17 140453 genome.wustl.edu 37 7 100682525 100682525 + Missense_Mutation SNP G G C TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 7 100682525 100682525 G C SNP MUC17 ENST00000306151 human ensembl 70_37 +1 known missense c.7828 p.E2610Q 0.001 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC MYH7B 57644 genome.wustl.edu 37 20 33587058 33587058 + Missense_Mutation SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 20 33587058 33587058 C T SNP MYH7B ENST00000262873 human ensembl 70_37 +1 novel missense c.4516 p.R1506W 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC MYO3B 140469 genome.wustl.edu 37 2 171264296 171264296 + Silent SNP G G A TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 2 171264296 171264296 G A SNP MYO3B ENST00000334231 human ensembl 70_37 +1 known silent c.2619 p.L873 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom - no_errors MYO3B HGNC NBPF1 55672 genome.wustl.edu 37 1 16889985 16889985 + RNA SNP T T C TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 1 16889985 16889985 T C SNP NBPF1 ENST00000401007 human ensembl 70_37 -1 known rna NULL NULL 0.040 - - - no_errors NBPF1 HGNC NUBPL 80224 genome.wustl.edu 37 14 32068519 32068519 + Missense_Mutation SNP G G A TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 14 32068519 32068519 G A SNP NUBPL ENST00000281081 human ensembl 70_37 +1 known missense c.316 p.V106M 1.000 pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1 pfam_ATPase-like_ParA/MinD,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1 - no_errors NUBPL HGNC NVL 4931 genome.wustl.edu 37 1 224477278 224477278 + Missense_Mutation SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 1 224477278 224477278 C T SNP NVL ENST00000281701 human ensembl 70_37 -1 known missense c.1483 p.E495K 0.011 NULL pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,pfam_Zeta_toxin_domain,smart_AAA+_ATPase - no_errors NVL HGNC PACSIN3 29763 genome.wustl.edu 37 11 47204045 47204045 + Silent SNP G G A TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 11 47204045 47204045 G A SNP PACSIN3 ENST00000298838 human ensembl 70_37 -1 known silent c.120 p.V40 1.000 pfam_FCH,smart_FCH,pfscan_FCH pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,prints_SH3_domain - no_errors PACSIN3 HGNC PARD3B 117583 genome.wustl.edu 37 2 206165403 206165403 + Missense_Mutation SNP G G A TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 2 206165403 206165403 G A SNP PARD3B ENST00000406610 human ensembl 70_37 +1 known missense c.2335 p.E779K 1.000 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC PDE4B 5142 genome.wustl.edu 37 1 66828900 66828900 + Missense_Mutation SNP G G C TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 1 66828900 66828900 G C SNP PDE4B ENST00000329654 human ensembl 70_37 +1 known missense c.1070 p.G357A 0.999 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4B HGNC PEX6 5190 genome.wustl.edu 37 6 42935238 42935238 + Missense_Mutation SNP C C G TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 6 42935238 42935238 C G SNP PEX6 ENST00000304611 human ensembl 70_37 -1 known missense c.1752 p.Q584H 1.000 pfam_ATPase_AAA_core,smart_AAA+_ATPase pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors PEX6 HGNC PKHD1L1 93035 genome.wustl.edu 37 8 110497378 110497378 + Missense_Mutation SNP G G A TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 8 110497378 110497378 G A SNP PKHD1L1 ENST00000378402 human ensembl 70_37 +1 known missense c.9682 p.D3228N 1.000 superfamily_Pectin_lyase_fold/virulence pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC PLCH1 23007 genome.wustl.edu 37 3 155203347 155203347 + Missense_Mutation SNP G G T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 3 155203347 155203347 G T SNP PLCH1 ENST00000340059 human ensembl 70_37 -1 known missense c.2796 p.S932R 1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC PON1 5444 genome.wustl.edu 37 7 95025649 95025649 + Missense_Mutation SNP A A G TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 7 95025649 95025649 A G SNP PON1 ENST00000542556 human ensembl 70_37 -1 known missense c.14 p.V5A 0.056 NULL pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase2,prints_Paraoxonase1 - no_errors PON1 HGNC PXDNL 137902 genome.wustl.edu 37 8 52359699 52359699 + Missense_Mutation SNP G G T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 8 52359699 52359699 G T SNP PXDNL ENST00000356297 human ensembl 70_37 -1 known missense c.1390 p.Q464K 0.685 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like,prints_Haem_peroxidase_animal_subgr - no_errors PXDNL HGNC PZP 5858 genome.wustl.edu 37 12 9307355 9307355 + Missense_Mutation SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 12 9307355 9307355 C T SNP PZP ENST00000261336 human ensembl 70_37 -1 known missense c.3631 p.E1211K 1.000 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC RAB8A 4218 genome.wustl.edu 37 19 16238844 16238844 + Silent SNP C C G TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 19 16238844 16238844 C G SNP RAB8A ENST00000300935 human ensembl 70_37 +1 known silent c.423 p.L141 0.861 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,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 RAB8A HGNC RBM33 155435 genome.wustl.edu 37 7 155537712 155537712 + Missense_Mutation SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 7 155537712 155537712 C T SNP RBM33 ENST00000401878 human ensembl 70_37 +1 known missense c.2395 p.R799C 1.000 NULL smart_RRM_dom - no_errors RBM33 HGNC SOCS3 9021 genome.wustl.edu 37 17 76355089 76355089 + Missense_Mutation SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 17 76355089 76355089 C T SNP SOCS3 ENST00000330871 human ensembl 70_37 -1 known missense c.88 p.E30K 1.000 NULL pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS3 HGNC SOCS3 9021 genome.wustl.edu 37 17 76355093 76355093 + Missense_Mutation SNP C C G TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 17 76355093 76355093 C G SNP SOCS3 ENST00000330871 human ensembl 70_37 -1 known missense c.84 p.K28N 1.000 NULL pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS3 HGNC SOX2 6657 genome.wustl.edu 37 3 181430944 181430944 + Missense_Mutation SNP C C G TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 3 181430944 181430944 C G SNP SOX2 ENST00000325404 human ensembl 70_37 +1 known missense c.796 p.Q266E 1.000 NULL pfam_TF_SOX,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX2 HGNC SPATA3 130560 genome.wustl.edu 37 2 231865094 231865094 + Missense_Mutation SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 2 231865094 231865094 C T SNP SPATA3 ENST00000454918 human ensembl 70_37 +1 known missense c.37 p.R13C 0.000 NULL NULL - no_errors SPATA3 HGNC SYDE1 85360 genome.wustl.edu 37 19 15222460 15222460 + Missense_Mutation SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 19 15222460 15222460 C T SNP SYDE1 ENST00000342784 human ensembl 70_37 +1 known missense c.1435 p.L479F 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE1 HGNC TCHH 7062 genome.wustl.edu 37 1 152082938 152082938 + Missense_Mutation SNP C C G TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 1 152082938 152082938 C G SNP TCHH ENST00000368804 human ensembl 70_37 -1 known missense c.2755 p.E919Q 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors TCHH HGNC TCHH 7062 genome.wustl.edu 37 1 152082962 152082962 + Missense_Mutation SNP C C G TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 1 152082962 152082962 C G SNP TCHH ENST00000368804 human ensembl 70_37 -1 known missense c.2731 p.E911Q 0.001 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors TCHH HGNC TET2 54790 genome.wustl.edu 37 4 106157306 106157306 + Nonsense_Mutation SNP C C G TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 4 106157306 106157306 C G SNP TET2 ENST00000380013 human ensembl 70_37 +1 known nonsense c.2207 p.S736* 0.011 NULL NULL - no_errors TET2 HGNC TET2 54790 genome.wustl.edu 37 4 106157380 106157380 + Missense_Mutation SNP C C G TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 4 106157380 106157380 C G SNP TET2 ENST00000380013 human ensembl 70_37 +1 known missense c.2281 p.P761A 0.028 NULL NULL - no_errors TET2 HGNC TMPRSS7 344805 genome.wustl.edu 37 3 111794194 111794194 + Missense_Mutation SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 3 111794194 111794194 C T SNP TMPRSS7 ENST00000419127 human ensembl 70_37 +1 known missense c.1432 p.H478Y 0.289 superfamily_Pept_cys/ser_Trypsin-like,superfamily_LDrepeatLR_classA_rpt pfam_Peptidase_S1_S6,pfam_SEA,pfam_LDrepeatLR_classA_rpt,pfam_CUB,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS7 HGNC TNC 3371 genome.wustl.edu 37 9 117822051 117822051 + Missense_Mutation SNP G G A TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 9 117822051 117822051 G A SNP TNC ENST00000350763 human ensembl 70_37 -1 known missense c.4264 p.R1422W 0.993 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC TTN 7273 genome.wustl.edu 37 2 179582503 179582503 + Silent SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 2 179582503 179582503 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.21366 p.L7122 0.996 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,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 - no_errors TTN HGNC TYW5 129450 genome.wustl.edu 37 2 200820195 200820195 + RNA SNP G G A TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 2 200820195 200820195 G A SNP TYW5 ENST00000452512 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TYW5 HGNC ULBP1 80329 genome.wustl.edu 37 6 150290300 150290300 + Silent SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 6 150290300 150290300 C T SNP ULBP1 ENST00000229708 human ensembl 70_37 +1 known silent c.429 p.F143 0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors ULBP1 HGNC UNC93B1 81622 genome.wustl.edu 37 11 67759316 67759316 + Missense_Mutation SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 11 67759316 67759316 C T SNP UNC93B1 ENST00000227471 human ensembl 70_37 -1 known missense c.1492 p.V498M 0.997 NULL pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93B1 HGNC USP1 7398 genome.wustl.edu 37 1 62910594 62910594 + Missense_Mutation SNP G G T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 1 62910594 62910594 G T SNP USP1 ENST00000339950 human ensembl 70_37 +1 known missense c.743 p.S248I 0.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP1 HGNC USP31 57478 genome.wustl.edu 37 16 23098489 23098489 + Missense_Mutation SNP G G A TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 16 23098489 23098489 G A SNP USP31 ENST00000219689 human ensembl 70_37 -1 known missense c.1546 p.R516C 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP31 HGNC WWC2-AS2 152641 genome.wustl.edu 37 4 184019362 184019362 + RNA SNP G G A TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 4 184019362 184019362 G A SNP WWC2-AS2 ENST00000506413 human ensembl 70_37 -1 known rna NULL NULL 0.080 - - - no_errors WWC2-AS2 HGNC XRRA1 143570 genome.wustl.edu 37 11 74656094 74656094 + RNA SNP C C G TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 11 74656094 74656094 C G SNP XRRA1 ENST00000524430 human ensembl 70_37 -1 known rna NULL NULL 0.782 - - - no_errors XRRA1 HGNC ZNF318 24149 genome.wustl.edu 37 6 43307344 43307344 + Silent SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 6 43307344 43307344 C T SNP ZNF318 ENST00000361428 human ensembl 70_37 -1 known silent c.4392 p.P1464 0.077 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ZNF582 147948 genome.wustl.edu 37 19 56901419 56901419 + Silent SNP G G A TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 19 56901419 56901419 G A SNP ZNF582 ENST00000301310 human ensembl 70_37 -1 known silent c.183 p.G61 0.000 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF582 HGNC ZNF674 641339 genome.wustl.edu 37 X 46382534 46382534 + RNA SNP G G C TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bb76b8b0-ee5f-4955-9b4c-2f8378a458f2 0a95dc33-f2e6-4723-a85e-87f716883112 X 46382534 46382534 G C SNP ZNF674 ENST00000518795 human ensembl 70_37 -1 known rna NULL NULL 0.525 - - - no_errors ZNF674 HGNC