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 ACSBG1 23205 genome.wustl.edu 37 15 78473179 78473179 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 15 78473179 78473179 C T SNP ACSBG1 ENST00000258873 human ensembl 70_37 -1 known missense c.1171 p.A391T 0.968 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSBG1 HGNC ACSL4 2182 genome.wustl.edu 37 X 108924278 108924278 + Missense_Mutation SNP C C G TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 X 108924278 108924278 C G SNP ACSL4 ENST00000340800 human ensembl 70_37 -1 known missense c.727 p.E243Q 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL4 HGNC ADAMTS2 9509 genome.wustl.edu 37 5 178548700 178548700 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 5 178548700 178548700 C T SNP ADAMTS2 ENST00000251582 human ensembl 70_37 -1 known missense c.3140 p.R1047H 0.793 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC AHNAK 79026 genome.wustl.edu 37 11 62289056 62289056 + Missense_Mutation SNP G G C TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 11 62289056 62289056 G C SNP AHNAK ENST00000378024 human ensembl 70_37 -1 known missense c.12833 p.S4278C 0.108 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ALPK3 57538 genome.wustl.edu 37 15 85411341 85411341 + Splice_Site SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 15 85411341 85411341 G A SNP ALPK3 ENST00000258888 human ensembl 70_37 +1 known splice_site c.5379-1 e14-1 0.999 - - - no_errors ALPK3 HGNC ANGEL2 90806 genome.wustl.edu 37 1 213173781 213173781 + RNA SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 213173781 213173781 G A SNP ANGEL2 ENST00000498650 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ANGEL2 HGNC ANKFY1 51479 genome.wustl.edu 37 17 4088126 4088126 + Silent SNP G G T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 17 4088126 4088126 G T SNP ANKFY1 ENST00000570535 human ensembl 70_37 -1 known silent c.1812 p.I604 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt - no_errors ANKFY1 HGNC ANKRD16 54522 genome.wustl.edu 37 10 5925012 5925012 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 10 5925012 5925012 C T SNP ANKRD16 ENST00000380092 human ensembl 70_37 -1 known missense c.806 p.R269K 0.981 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD16 HGNC AR 367 genome.wustl.edu 37 X 66766391 66766391 + Missense_Mutation SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 X 66766391 66766391 G A SNP AR ENST00000374690 human ensembl 70_37 +1 known missense c.1403 p.G468D 0.007 NULL pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ARHGAP18 93663 genome.wustl.edu 37 6 129959716 129959716 + Missense_Mutation SNP C C A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 6 129959716 129959716 C A SNP ARHGAP18 ENST00000275189 human ensembl 70_37 -1 known missense c.375 p.E125D 0.678 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP18 HGNC ARL3 403 genome.wustl.edu 37 10 104459241 104459241 + Missense_Mutation SNP G G C TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 10 104459241 104459241 G C SNP ARL3 ENST00000260746 human ensembl 70_37 -1 known missense c.153 p.F51L 0.997 pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_Small_GTPase,pfam_MIRO-like,pfam_ATPase_AAA_core,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_Small_GTPase,pfam_MIRO-like,pfam_EF_GTP-bd_dom,pfam_ATPase_AAA_core,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,prints_Gprotein_alpha_su,tigrfam_Small_GTP-bd_dom - no_errors ARL3 HGNC ASIC1 41 genome.wustl.edu 37 12 50467395 50467395 + Missense_Mutation SNP T T C TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 12 50467395 50467395 T C SNP ASIC1 ENST00000552438 human ensembl 70_37 +1 putative missense c.28 p.S10P 1.000 NULL pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC1 HGNC ATCAY 85300 genome.wustl.edu 37 19 3885794 3885794 + Missense_Mutation SNP T T C TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 19 3885794 3885794 T C SNP ATCAY ENST00000301260 human ensembl 70_37 +1 known missense c.29 p.M10T 1.000 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors ATCAY HGNC ATP1A1 476 genome.wustl.edu 37 1 116933017 116933017 + Frame_Shift_Del DEL G G - TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 116933017 116933017 G - DEL ATP1A1 ENST00000295598 human ensembl 70_37 +1 known frame_shift_del c.1206 p.T403fs 0.946 pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP1A1 HGNC C19orf57 79173 genome.wustl.edu 37 19 14000393 14000393 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 19 14000393 14000393 C T SNP C19orf57 ENST00000454313 human ensembl 70_37 -1 known missense c.1276 p.G426R 0.000 NULL NULL - no_errors C19orf57 HGNC C9orf3 84909 genome.wustl.edu 37 9 97563233 97563233 + Missense_Mutation SNP G G C TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 9 97563233 97563233 G C SNP C9orf3 ENST00000375315 human ensembl 70_37 +1 known missense c.1313 p.R438P 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold - no_errors C9orf3 HGNC CACNA1H 8912 genome.wustl.edu 37 16 1250536 1250536 + Missense_Mutation SNP G G T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 16 1250536 1250536 G T SNP CACNA1H ENST00000348261 human ensembl 70_37 +1 known missense c.1084 p.D362Y 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC CDC14A 8556 genome.wustl.edu 37 1 100949940 100949940 + Missense_Mutation SNP C C G TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 100949940 100949940 C G SNP CDC14A ENST00000361544 human ensembl 70_37 +1 known missense c.1070 p.S357C 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14A HGNC CDH9 1007 genome.wustl.edu 37 5 26885962 26885962 + Missense_Mutation SNP C C A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 5 26885962 26885962 C A SNP CDH9 ENST00000231021 human ensembl 70_37 -1 known missense c.1643 p.G548V 0.996 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC CDK5R1 8851 genome.wustl.edu 37 17 30814673 30814673 + Missense_Mutation SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 17 30814673 30814673 G A SNP CDK5R1 ENST00000313401 human ensembl 70_37 +1 known missense c.35 p.R12Q 0.999 pfam_CDK5_activator,pirsf_CDK5_activator pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator - no_errors CDK5R1 HGNC CDKL5 6792 genome.wustl.edu 37 X 18627006 18627006 + Missense_Mutation SNP T T A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 X 18627006 18627006 T A SNP CDKL5 ENST00000379989 human ensembl 70_37 +1 known missense c.2020 p.S674T 0.993 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 CDKL5 HGNC CDKL5 6792 genome.wustl.edu 37 X 18627007 18627007 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 X 18627007 18627007 C T SNP CDKL5 ENST00000379989 human ensembl 70_37 +1 known missense c.2021 p.S674F 0.997 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 CDKL5 HGNC CHD6 84181 genome.wustl.edu 37 20 40040787 40040787 + Silent SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 20 40040787 40040787 C T SNP CHD6 ENST00000373233 human ensembl 70_37 -1 known silent c.7248 p.L2416 0.995 pfam_BRK_domain,smart_BRK_domain pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC CNOT6L 246175 genome.wustl.edu 37 4 78695822 78695822 + Missense_Mutation SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 4 78695822 78695822 G A SNP CNOT6L ENST00000264903 human ensembl 70_37 -1 known missense c.176 p.T59I 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp - no_errors CNOT6L HGNC CNTN6 27255 genome.wustl.edu 37 3 1424826 1424826 + Silent SNP G G C TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 3 1424826 1424826 G C SNP CNTN6 ENST00000350110 human ensembl 70_37 +1 known silent c.2367 p.L789 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN6 HGNC COL15A1 1306 genome.wustl.edu 37 9 101751495 101751495 + Silent SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 9 101751495 101751495 C T SNP COL15A1 ENST00000375001 human ensembl 70_37 +1 known silent c.759 p.D253 0.000 NULL pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL15A1 HGNC COLQ 8292 genome.wustl.edu 37 3 15531137 15531137 + Silent SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 3 15531137 15531137 G A SNP COLQ ENST00000383788 human ensembl 70_37 -1 known silent c.114 p.P38 0.185 NULL pfam_Collagen,tigrfam_Myxo_disulph_rpt - no_errors COLQ HGNC COPG2 26958 genome.wustl.edu 37 7 130353481 130353481 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 7 130353481 130353481 C T SNP COPG2 ENST00000445977 human ensembl 70_37 -1 known missense c.28 p.E10K 1.000 NULL pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold - no_errors COPG2 HGNC CSMD3 114788 genome.wustl.edu 37 8 113246671 113246671 + Missense_Mutation SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 8 113246671 113246671 G A SNP CSMD3 ENST00000297405 human ensembl 70_37 -1 known missense c.10663 p.R3555C 0.970 NULL pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC CST2 1470 genome.wustl.edu 37 20 23807092 23807092 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 20 23807092 23807092 C T SNP CST2 ENST00000304725 human ensembl 70_37 -1 known missense c.206 p.R69Q 0.001 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST2 HGNC DNAH7 56171 genome.wustl.edu 37 2 196765060 196765060 + Silent SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 2 196765060 196765060 G A SNP DNAH7 ENST00000312428 human ensembl 70_37 -1 known silent c.4494 p.Y1498 0.993 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2 - no_errors DNAH7 HGNC DSP 1832 genome.wustl.edu 37 6 7572161 7572161 + Missense_Mutation SNP C C G TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 6 7572161 7572161 C G SNP DSP ENST00000379802 human ensembl 70_37 +1 known missense c.1990 p.Q664E 1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC EIF2B3 8891 genome.wustl.edu 37 1 45407182 45407182 + Frame_Shift_Del DEL T T - TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 45407182 45407182 T - DEL EIF2B3 ENST00000360403 human ensembl 70_37 -1 known frame_shift_del c.450 p.A151fs 0.997 NULL pfam_NTP_transferase - no_errors EIF2B3 HGNC ENSG00000219016 0 genome.wustl.edu 37 22 48940508 48940508 + Missense_Mutation SNP G G T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 22 48940508 48940508 G T SNP ENSG00000219016 ENST00000407505 human ensembl 70_37 -1 putative missense c.301 p.H101N 0.000 NULL NULL - no_errors CTA-299D3.8 Clone_based_vega_gene ENSG00000227217 0 genome.wustl.edu 37 1 157665801 157665801 + RNA SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 157665801 157665801 G A SNP ENSG00000227217 ENST00000453692 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-367J7.3 Clone_based_vega_gene EPHB2 2048 genome.wustl.edu 37 1 23110978 23110978 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 23110978 23110978 C T SNP EPHB2 ENST00000400191 human ensembl 70_37 +1 known missense c.220 p.R74W 1.000 pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom,pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB2 HGNC CCSER2 54462 genome.wustl.edu 37 10 86131272 86131272 + Missense_Mutation SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 10 86131272 86131272 G A SNP FAM190B ENST00000372088 human ensembl 70_37 +1 known missense c.464 p.G155D 0.744 NULL NULL - no_errors FAM190B HGNC FBN2 2201 genome.wustl.edu 37 5 127686699 127686699 + Splice_Site SNP T T C TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 5 127686699 127686699 T C SNP FBN2 ENST00000262464 human ensembl 70_37 -1 known splice_site c.2675-2 e21-2 1.000 - - - no_errors FBN2 HGNC FBXL19-AS1 283932 genome.wustl.edu 37 16 30934304 30934304 + RNA SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 16 30934304 30934304 G A SNP FBXL19-AS1 ENST00000563777 human ensembl 70_37 -1 known rna NULL NULL 0.883 - - - no_errors FBXL19-AS1 HGNC FBXO15 201456 genome.wustl.edu 37 18 71791733 71791733 + Missense_Mutation SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 18 71791733 71791733 G A SNP FBXO15 ENST00000419743 human ensembl 70_37 -1 known missense c.986 p.S329L 0.989 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO15 HGNC FBXO32 114907 genome.wustl.edu 37 8 124516928 124516928 + Missense_Mutation SNP G G C TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 8 124516928 124516928 G C SNP FBXO32 ENST00000517956 human ensembl 70_37 -1 known missense c.894 p.F298L 0.999 superfamily_F-box_dom_cyclin-like superfamily_F-box_dom_cyclin-like - no_errors FBXO32 HGNC FLNB 2317 genome.wustl.edu 37 3 58110095 58110095 + Missense_Mutation SNP A A G TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 3 58110095 58110095 A G SNP FLNB ENST00000295956 human ensembl 70_37 +1 known missense c.3761 p.D1254G 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC FRAS1 80144 genome.wustl.edu 37 4 79462120 79462120 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 4 79462120 79462120 C T SNP FRAS1 ENST00000264895 human ensembl 70_37 +1 known missense c.11881 p.R3961W 0.986 NULL pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC FZD8 8325 genome.wustl.edu 37 10 35929095 35929095 + Missense_Mutation SNP C C A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 10 35929095 35929095 C A SNP FZD8 ENST00000374694 human ensembl 70_37 -1 known missense c.1263 p.W421C 1.000 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD8 HGNC GGA2 23062 genome.wustl.edu 37 16 23486311 23486311 + Missense_Mutation SNP C C G TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 16 23486311 23486311 C G SNP GGA2 ENST00000309859 human ensembl 70_37 -1 known missense c.1364 p.W455S 1.000 NULL pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ENTH_VHS,superfamily_Coatomer/clathrin_app_Ig-like,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA2 HGNC GLDC 2731 genome.wustl.edu 37 9 6535985 6535985 + RNA SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 9 6535985 6535985 C T SNP GLDC ENST00000477960 human ensembl 70_37 -1 known rna NULL NULL 0.187 - - - no_errors GLDC HGNC GPR153 387509 genome.wustl.edu 37 1 6311456 6311456 + Silent SNP G G C TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 6311456 6311456 G C SNP GPR153 ENST00000377893 human ensembl 70_37 -1 known silent c.921 p.L307 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_153,prints_GPCR_153/162 - no_errors GPR153 HGNC GPR153 387509 genome.wustl.edu 37 1 6311556 6311556 + Missense_Mutation SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 6311556 6311556 G A SNP GPR153 ENST00000377893 human ensembl 70_37 -1 known missense c.821 p.S274L 0.985 pfam_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_153,prints_GPCR_153/162 - no_errors GPR153 HGNC GPR153 387509 genome.wustl.edu 37 1 6314906 6314906 + Silent SNP G G C TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 6314906 6314906 G C SNP GPR153 ENST00000377893 human ensembl 70_37 -1 known silent c.60 p.L20 1.000 prints_GPCR_153/162 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_153,prints_GPCR_153/162 - no_errors GPR153 HGNC HIST1H1T 3010 genome.wustl.edu 37 6 26107819 26107819 + Missense_Mutation SNP C C A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 6 26107819 26107819 C A SNP HIST1H1T ENST00000338379 human ensembl 70_37 -1 known missense c.503 p.R168I 0.570 NULL pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors HIST1H1T HGNC HMGN2 3151 genome.wustl.edu 37 1 26801753 26801753 + RNA SNP A A T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 26801753 26801753 A T SNP HMGN2 ENST00000460563 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGN2 HGNC HNRNPH2 3188 genome.wustl.edu 37 X 100667593 100667593 + Missense_Mutation SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 X 100667593 100667593 G A SNP HNRNPH2 ENST00000316594 human ensembl 70_37 +1 known missense c.617 p.R206Q 1.000 NULL pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPH2 HGNC HOXA-AS3 100133311 genome.wustl.edu 37 7 27194238 27194238 + RNA SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 7 27194238 27194238 G A SNP HOXA-AS3 ENST00000518947 human ensembl 70_37 +1 known rna NULL NULL 0.571 - - - no_errors HOXA-AS3 HGNC HRH1 3269 genome.wustl.edu 37 3 11301558 11301558 + Missense_Mutation SNP A A T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 3 11301558 11301558 A T SNP HRH1 ENST00000397056 human ensembl 70_37 +1 known missense c.835 p.T279S 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H1_recept,prints_GPCR_Rhodpsn,prints_Musac_rcpt - no_errors HRH1 HGNC HSD17B7 51478 genome.wustl.edu 37 1 162766467 162766467 + Missense_Mutation SNP G G T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 162766467 162766467 G T SNP HSD17B7 ENST00000254521 human ensembl 70_37 +1 known missense c.332 p.R111I 1.000 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH - no_errors HSD17B7 HGNC IGHV1OR21-1 390530 genome.wustl.edu 37 21 10862953 10862953 + Missense_Mutation SNP C C G TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 21 10862953 10862953 C G SNP IGHV1OR21-1 ENST00000559480 human ensembl 70_37 +1 known missense c.249 p.F83L 0.034 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGHV1OR21-1 HGNC IL9R 3581 genome.wustl.edu 37 X 155235748 155235748 + Missense_Mutation SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 X 155235748 155235748 G A SNP IL9R ENST00000244174 human ensembl 70_37 +1 known missense c.782 p.G261D 0.004 NULL superfamily_Fibronectin_type3 - no_errors IL9R HGNC INTS7 25896 genome.wustl.edu 37 1 212180086 212180086 + Silent SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 212180086 212180086 C T SNP INTS7 ENST00000366994 human ensembl 70_37 -1 known silent c.774 p.Q258 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors INTS7 HGNC ISLR2 57611 genome.wustl.edu 37 15 74426565 74426565 + Silent SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 15 74426565 74426565 G A SNP ISLR2 ENST00000361742 human ensembl 70_37 +1 known silent c.1470 p.A490 0.994 NULL pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Ig-like - no_errors ISLR2 HGNC ITIH5 80760 genome.wustl.edu 37 10 7608295 7608295 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 10 7608295 7608295 C T SNP ITIH5 ENST00000256861 human ensembl 70_37 -1 known missense c.2225 p.R742H 1.000 pfam_ITI_HC_C pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC KCNMA1 3778 genome.wustl.edu 37 10 79397289 79397289 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 10 79397289 79397289 C T SNP KCNMA1 ENST00000406533 human ensembl 70_37 -1 known missense c.112 p.A38T 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC KIAA0430 9665 genome.wustl.edu 37 16 15696500 15696501 + Frame_Shift_Ins INS - - G TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 16 15696500 15696501 - G INS KIAA0430 ENST00000344181 human ensembl 70_37 -1 known frame_shift_ins c.3319_3318 p.S1106fs 0.000:0.000 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC KIAA1551 55196 genome.wustl.edu 37 12 32140176 32140176 + Nonsense_Mutation SNP C C G TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 12 32140176 32140176 C G SNP KIAA1551 ENST00000312561 human ensembl 70_37 +1 known nonsense c.5006 p.S1669* 1.000 NULL NULL - no_errors KIAA1551 HGNC LCT 3938 genome.wustl.edu 37 2 136575262 136575262 + Missense_Mutation SNP C C A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 2 136575262 136575262 C A SNP LCT ENST00000264162 human ensembl 70_37 -1 known missense c.1356 p.K452N 0.998 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC LETM2 137994 genome.wustl.edu 37 8 38250390 38250390 + Missense_Mutation SNP C C G TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 8 38250390 38250390 C G SNP LETM2 ENST00000379957 human ensembl 70_37 +1 known missense c.378 p.I126M 0.005 pfam_LETM1 pfam_LETM1 - no_errors LETM2 HGNC LOC147670 147670 genome.wustl.edu 37 19 57166487 57166487 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 19 57166487 57166487 C T SNP LOC147670 ENST00000598409 human ensembl 70_37 +1 known missense c.263 p.S88L 0.921 NULL NULL - no_errors AC007228.1 Clone_based_vega_gene LRP2 4036 genome.wustl.edu 37 2 170060692 170060692 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 2 170060692 170060692 C T SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known missense c.7805 p.G2602D 0.999 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC LRRC31 79782 genome.wustl.edu 37 3 169571431 169571431 + RNA SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 3 169571431 169571431 G A SNP LRRC31 ENST00000397805 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LRRC31 HGNC LRRC37A3 374819 genome.wustl.edu 37 17 62856867 62856867 + Missense_Mutation SNP C C G TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 17 62856867 62856867 C G SNP LRRC37A3 ENST00000319651 human ensembl 70_37 -1 known missense c.3397 p.D1133H 0.034 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC LRRC4B 94030 genome.wustl.edu 37 19 51020885 51020885 + Missense_Mutation SNP G G T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 19 51020885 51020885 G T SNP LRRC4B ENST00000389201 human ensembl 70_37 -1 known missense c.2085 p.H695Q 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRRC4B HGNC LRRC4C 57689 genome.wustl.edu 37 11 40136562 40136562 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 11 40136562 40136562 C T SNP LRRC4C ENST00000527150 human ensembl 70_37 -1 known missense c.1281 p.M427I 1.000 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors LRRC4C HGNC MAGEC3 139081 genome.wustl.edu 37 X 140985330 140985330 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 X 140985330 140985330 C T SNP MAGEC3 ENST00000536088 human ensembl 70_37 +1 known missense c.892 p.H298Y 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC MED13 9969 genome.wustl.edu 37 17 60107314 60107314 + Missense_Mutation SNP G G C TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 17 60107314 60107314 G C SNP MED13 ENST00000397786 human ensembl 70_37 -1 known missense c.1070 p.S357C 1.000 pfam_Mediator_Med13_N_met/fun pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC MEG3 55384 genome.wustl.edu 37 14 101297350 101297350 + RNA SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 14 101297350 101297350 C T SNP MEG3 ENST00000398474 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MEG3 HGNC MIR4695 100616120 genome.wustl.edu 37 1 19209751 19209751 + RNA SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 19209751 19209751 G A SNP MIR4695 ENST00000577305 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR4695 HGNC MS4A2 2206 genome.wustl.edu 37 11 59860966 59860966 + Missense_Mutation SNP T T C TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 11 59860966 59860966 T C SNP MS4A2 ENST00000278888 human ensembl 70_37 +1 known missense c.472 p.Y158H 0.007 pfam_CD20-like pfam_CD20-like - no_errors MS4A2 HGNC MT-ND5 4540 genome.wustl.edu 37 MT 13466 13466 + Missense_Mutation SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 MT 13466 13466 G A SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known missense c.1130 p.S377N NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC MUSK 4593 genome.wustl.edu 37 9 113550063 113550063 + Silent SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 9 113550063 113550063 G A SNP MUSK ENST00000189978 human ensembl 70_37 +1 known silent c.1890 p.Q630 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_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MUSK HGNC MUSK 4593 genome.wustl.edu 37 9 113550161 113550161 + Missense_Mutation SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 9 113550161 113550161 G A SNP MUSK ENST00000374438 human ensembl 70_37 +1 known missense c.518 p.R173K 0.001 pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom - no_errors MUSK HGNC MYH3 4621 genome.wustl.edu 37 17 10535838 10535838 + Silent SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 17 10535838 10535838 C T SNP MYH3 ENST00000226209 human ensembl 70_37 -1 known silent c.4911 p.A1637 0.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC NBEA 26960 genome.wustl.edu 37 13 35926395 35926395 + Silent SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 13 35926395 35926395 G A SNP NBEA ENST00000310336 human ensembl 70_37 +1 known silent c.6114 p.Q2038 1.000 pfam_DUF1088 pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC NBPF4 148545 genome.wustl.edu 37 1 108766233 108766233 + RNA SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 108766233 108766233 G A SNP NBPF4 ENST00000487594 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors NBPF4 HGNC NCAPG2 54892 genome.wustl.edu 37 7 158476039 158476039 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 7 158476039 158476039 C T SNP NCAPG2 ENST00000409339 human ensembl 70_37 -1 known missense c.877 p.G293R 0.998 pfam_Condensin2_G2,superfamily_ARM-type_fold pfam_Condensin2_G2,superfamily_ARM-type_fold - no_errors NCAPG2 HGNC NCKAP5 344148 genome.wustl.edu 37 2 133540060 133540060 + Missense_Mutation SNP T T C TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 2 133540060 133540060 T C SNP NCKAP5 ENST00000317721 human ensembl 70_37 -1 known missense c.4324 p.T1442A 0.000 NULL NULL - no_errors NCKAP5 HGNC NFATC3 4775 genome.wustl.edu 37 16 68160513 68160513 + Missense_Mutation SNP G G T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 16 68160513 68160513 G T SNP NFATC3 ENST00000346183 human ensembl 70_37 +1 known missense c.1401 p.K467N 1.000 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD,prints_NFAT pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC3 HGNC NLRP11 204801 genome.wustl.edu 37 19 56320318 56320318 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 19 56320318 56320318 C T SNP NLRP11 ENST00000443188 human ensembl 70_37 -1 known missense c.1658 p.R553Q 0.001 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP11 HGNC NME6 10201 genome.wustl.edu 37 3 48335898 48335898 + RNA SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 3 48335898 48335898 C T SNP NME6 ENST00000444069 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors NME6 HGNC NRARP 441478 genome.wustl.edu 37 9 140196226 140196226 + Missense_Mutation SNP T T G TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 9 140196226 140196226 T G SNP NRARP ENST00000356628 human ensembl 70_37 -1 known missense c.155 p.Q52P 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors NRARP HGNC NUDT7 283927 genome.wustl.edu 37 16 77775505 77775505 + Missense_Mutation SNP G G T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 16 77775505 77775505 G T SNP NUDT7 ENST00000564085 human ensembl 70_37 +1 putative missense c.469 p.G157W 0.997 NULL pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT7 HGNC NXF2 56001 genome.wustl.edu 37 X 101572376 101572376 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 X 101572376 101572376 C T SNP NXF2 ENST00000330252 human ensembl 70_37 +1 known missense c.274 p.H92Y 0.000 NULL pfam_Tap_RNA-bd,pfam_TAP_C_dom,pfam_NTF2,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF2 HGNC OR2T34 127068 genome.wustl.edu 37 1 248737420 248737420 + Silent SNP G G T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 248737420 248737420 G T SNP OR2T34 ENST00000328782 human ensembl 70_37 -1 known silent c.639 p.L213 0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T34 HGNC OR4F6 390648 genome.wustl.edu 37 15 102346506 102346506 + Missense_Mutation SNP T T G TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 15 102346506 102346506 T G SNP OR4F6 ENST00000328882 human ensembl 70_37 +1 known missense c.584 p.L195W 0.003 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4F6 HGNC OTUD7A 161725 genome.wustl.edu 37 15 31795972 31795972 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 15 31795972 31795972 C T SNP OTUD7A ENST00000382902 human ensembl 70_37 -1 known missense c.943 p.V315I 1.000 pfam_OTU,pfscan_OTU pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7A HGNC PAIP2B 400961 genome.wustl.edu 37 2 71417103 71417103 + Missense_Mutation SNP C C G TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 2 71417103 71417103 C G SNP PAIP2B ENST00000244221 human ensembl 70_37 -1 known missense c.187 p.E63Q 1.000 NULL pfam_Ataxin-2_C - no_errors PAIP2B HGNC PALM 5064 genome.wustl.edu 37 19 727657 727657 + Missense_Mutation SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 19 727657 727657 G A SNP PALM ENST00000338448 human ensembl 70_37 +1 known missense c.232 p.E78K 0.999 pfam_Paralemmin pfam_Paralemmin - no_errors PALM HGNC PARP1 142 genome.wustl.edu 37 1 226549886 226549886 + RNA DEL T T - TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 226549886 226549886 T - DEL PARP1 ENST00000491816 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors PARP1 HGNC PCDHB18 54660 genome.wustl.edu 37 5 140616083 140616083 + RNA SNP T T A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 5 140616083 140616083 T A SNP PCDHB18 ENST00000526308 human ensembl 70_37 +1 known rna NULL NULL 0.935 - - - no_errors PCDHB18 HGNC PDILT 204474 genome.wustl.edu 37 16 20396079 20396079 + Silent SNP G G T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 16 20396079 20396079 G T SNP PDILT ENST00000302451 human ensembl 70_37 -1 known silent c.297 p.G99 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors PDILT HGNC PHF2 5253 genome.wustl.edu 37 9 96398778 96398778 + Silent SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 9 96398778 96398778 C T SNP PHF2 ENST00000359246 human ensembl 70_37 +1 known silent c.270 p.I90 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC PIGO 84720 genome.wustl.edu 37 9 35091686 35091686 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 9 35091686 35091686 C T SNP PIGO ENST00000341666 human ensembl 70_37 -1 known missense c.2198 p.R733Q 1.000 NULL pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGO HGNC PLEKHH3 79990 genome.wustl.edu 37 17 40823016 40823016 + Missense_Mutation SNP C C G TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 17 40823016 40823016 C G SNP PLEKHH3 ENST00000591022 human ensembl 70_37 -1 known missense c.1417 p.E473Q 1.000 smart_Band_41_domain,pfscan_FERM_domain pfam_MyTH4_dom,pfam_FERM_central,pfam_Ras-assoc,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH3 HGNC POLR2A 5430 genome.wustl.edu 37 17 7406444 7406444 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 17 7406444 7406444 C T SNP POLR2A ENST00000322644 human ensembl 70_37 +1 known missense c.2761 p.R921C 1.000 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC PRDM2 7799 genome.wustl.edu 37 1 14105137 14105139 + In_Frame_Del DEL GAT GAT - TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 GAT GAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 14105137 14105139 GAT - DEL PRDM2 ENST00000235372 human ensembl 70_37 +1 known in_frame_del c.847_849 p.D286in_frame_del 0.967:0.959:0.929 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC PRKDC 5591 genome.wustl.edu 37 8 48766714 48766714 + Missense_Mutation SNP G G C TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 8 48766714 48766714 G C SNP PRKDC ENST00000314191 human ensembl 70_37 -1 known missense c.6820 p.Q2274E 1.000 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC PRSS35 167681 genome.wustl.edu 37 6 84234251 84234251 + Missense_Mutation SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 6 84234251 84234251 G A SNP PRSS35 ENST00000369700 human ensembl 70_37 +1 known missense c.1091 p.R364H 1.000 superfamily_Pept_cys/ser_Trypsin-like pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like - no_errors PRSS35 HGNC PTGDR 5729 genome.wustl.edu 37 14 52734971 52734971 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 14 52734971 52734971 C T SNP PTGDR ENST00000306051 human ensembl 70_37 +1 known missense c.439 p.R147C 0.919 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Pglndn_D_rcpt,prints_Prostanoid_rcpt - no_errors PTGDR HGNC PTOV1 53635 genome.wustl.edu 37 19 50363362 50363362 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 19 50363362 50363362 C T SNP PTOV1 ENST00000221557 human ensembl 70_37 +1 known missense c.995 p.S332L 1.000 NULL pfam_Mediator_Med25 - no_errors PTOV1 HGNC PTPRB 5787 genome.wustl.edu 37 12 71029767 71029767 + Silent SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 12 71029767 71029767 C T SNP PTPRB ENST00000334414 human ensembl 70_37 -1 known silent c.135 p.R45 0.967 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC RAB13 5872 genome.wustl.edu 37 1 153954778 153954779 + RNA INS - - AC TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 153954778 153954779 - AC INS RAB13 ENST00000462680 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RAB13 HGNC ROBO1 6091 genome.wustl.edu 37 3 78706263 78706263 + Nonsense_Mutation SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 3 78706263 78706263 G A SNP ROBO1 ENST00000464233 human ensembl 70_37 -1 known nonsense c.2599 p.Q867* 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO1 HGNC ROCK1 6093 genome.wustl.edu 37 18 18571173 18571173 + Missense_Mutation SNP G G C TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 18 18571173 18571173 G C SNP ROCK1 ENST00000399799 human ensembl 70_37 -1 known missense c.2107 p.Q703E 1.000 pirsf_Rho-assoc_coiled-coil_kin pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors ROCK1 HGNC RRP7B 91695 genome.wustl.edu 37 22 42971969 42971970 + RNA INS - - AGA TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 22 42971969 42971970 - AGA INS RRP7B ENST00000357802 human ensembl 70_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors RRP7B HGNC RUNX1T1 862 genome.wustl.edu 37 8 93026984 93026984 + Silent SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 8 93026984 93026984 G A SNP RUNX1T1 ENST00000436581 human ensembl 70_37 -1 known silent c.324 p.F108 1.000 NULL pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC RYR2 6262 genome.wustl.edu 37 1 237880502 237880502 + Missense_Mutation SNP C C A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 237880502 237880502 C A SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.10322 p.A3441D 0.981 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC RYR3 6263 genome.wustl.edu 37 15 34047363 34047363 + Missense_Mutation SNP G G C TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 15 34047363 34047363 G C SNP RYR3 ENST00000389232 human ensembl 70_37 +1 known missense c.8497 p.E2833Q 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC SARDH 1757 genome.wustl.edu 37 9 136583881 136583881 + Splice_Site SNP T T C TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 9 136583881 136583881 T C SNP SARDH ENST00000371867 human ensembl 70_37 -1 known splice_site c.754-2 e7-2 0.000 - - - no_errors SARDH HGNC SENP3 26168 genome.wustl.edu 37 17 7474944 7474945 + RNA INS - - T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 17 7474944 7474945 - T INS SENP3 ENST00000578868 human ensembl 70_37 +1 known rna NULL NULL 1.000:0.999 - - - no_errors SENP3 HGNC SERPINA13P 388007 genome.wustl.edu 37 14 95109805 95109805 + Splice_Site SNP G G T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 14 95109805 95109805 G T SNP SERPINA13P ENST00000469935 human ensembl 70_37 +1 known splice_site c.NULL NULL 0.430 - - - no_errors SERPINA13P HGNC SESN2 83667 genome.wustl.edu 37 1 28601431 28601431 + Silent SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 28601431 28601431 C T SNP SESN2 ENST00000253063 human ensembl 70_37 +1 known silent c.1116 p.S372 1.000 pfam_PA26 pfam_PA26 - no_errors SESN2 HGNC SH2D6 284948 genome.wustl.edu 37 2 85657723 85657723 + RNA SNP C C A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 2 85657723 85657723 C A SNP SH2D6 ENST00000481426 human ensembl 70_37 +1 known rna NULL NULL 0.021 - - - no_errors SH2D6 HGNC SIPA1L2 57568 genome.wustl.edu 37 1 232600891 232600891 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 232600891 232600891 C T SNP SIPA1L2 ENST00000262861 human ensembl 70_37 -1 known missense c.2515 p.E839K 1.000 NULL pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L2 HGNC SLC26A3 1811 genome.wustl.edu 37 7 107423751 107423751 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 7 107423751 107423751 C T SNP SLC26A3 ENST00000340010 human ensembl 70_37 -1 known missense c.1018 p.V340I 0.018 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A3 HGNC SLC2A1 6513 genome.wustl.edu 37 1 43396313 43396313 + Missense_Mutation SNP C C A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 43396313 43396313 C A SNP SLC2A1 ENST00000426263 human ensembl 70_37 -1 known missense c.500 p.G167V 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Glu_transpt_1,tigrfam_Sugar/inositol_transpt - no_errors SLC2A1 HGNC SLC34A2 10568 genome.wustl.edu 37 4 25665934 25665934 + Missense_Mutation SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 4 25665934 25665934 G A SNP SLC34A2 ENST00000382051 human ensembl 70_37 +1 known missense c.361 p.A121T 1.000 pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,superfamily_ABC_transptrTM_dom_typ1,tigrfam_Na/Pi_transpt - no_errors SLC34A2 HGNC SLC7A1 6541 genome.wustl.edu 37 13 30091325 30091325 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 13 30091325 30091325 C T SNP SLC7A1 ENST00000380752 human ensembl 70_37 -1 known missense c.1633 p.V545I 0.013 pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease - no_errors SLC7A1 HGNC SMARCA4 6597 genome.wustl.edu 37 19 11130308 11130308 + Silent SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 19 11130308 11130308 G A SNP SMARCA4 ENST00000358026 human ensembl 70_37 +1 known silent c.2547 p.R849 0.569 pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA4 HGNC SNPH 9751 genome.wustl.edu 37 20 1285974 1285974 + Missense_Mutation SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 20 1285974 1285974 G A SNP SNPH ENST00000381867 human ensembl 70_37 +1 known missense c.893 p.R298Q 1.000 NULL NULL - no_errors SNPH HGNC SOX11 6664 genome.wustl.edu 37 2 5833062 5833062 + Missense_Mutation SNP A A C TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 2 5833062 5833062 A C SNP SOX11 ENST00000322002 human ensembl 70_37 +1 known missense c.209 p.Q70P 1.000 pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pirsf_SOX-12/11/4a,pfscan_HMG_superfamily pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pirsf_SOX-12/11/4a,pfscan_HMG_superfamily - no_errors SOX11 HGNC SPNS3 201305 genome.wustl.edu 37 17 4389616 4389616 + Missense_Mutation SNP G G C TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 17 4389616 4389616 G C SNP SPNS3 ENST00000355530 human ensembl 70_37 +1 known missense c.1273 p.G425R 0.988 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS3 HGNC SPRY4 81848 genome.wustl.edu 37 5 141694154 141694154 + Frame_Shift_Del DEL G G - TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 5 141694154 141694154 G - DEL SPRY4 ENST00000344120 human ensembl 70_37 -1 known frame_shift_del c.589 p.R197fs 1.000 pfam_Sprouty pfam_Sprouty - no_errors SPRY4 HGNC SRCRB4D 136853 genome.wustl.edu 37 7 76021282 76021282 + Silent SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 7 76021282 76021282 G A SNP SRCRB4D ENST00000275560 human ensembl 70_37 -1 known silent c.1410 p.D470 0.962 superfamily_Srcr_rcpt-rel pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors SRCRB4D HGNC SUN2 25777 genome.wustl.edu 37 22 39146332 39146332 + Missense_Mutation SNP G G T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 22 39146332 39146332 G T SNP SUN2 ENST00000405018 human ensembl 70_37 -1 novel missense c.481 p.P161T 0.873 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN2 HGNC TARS 6897 genome.wustl.edu 37 5 33457395 33457395 + Missense_Mutation SNP A A G TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 5 33457395 33457395 A G SNP TARS ENST00000265112 human ensembl 70_37 +1 known missense c.871 p.M291V 1.000 pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARS HGNC TDRD1 56165 genome.wustl.edu 37 10 115973798 115973798 + Missense_Mutation SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 10 115973798 115973798 G A SNP TDRD1 ENST00000251864 human ensembl 70_37 +1 known missense c.2137 p.D713N 0.767 pfam_Tudor pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND - no_errors TDRD1 HGNC TMPRSS11A 339967 genome.wustl.edu 37 4 68812207 68812207 + Frame_Shift_Del DEL C C - TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 4 68812207 68812207 C - DEL TMPRSS11A ENST00000334830 human ensembl 70_37 -1 known frame_shift_del c.94 p.A32fs 0.001 pirsf_Pept_S1A_HAT/DESC1 pfam_Peptidase_S1_S6,pfam_SEA,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS11A HGNC TPTEP1 387590 genome.wustl.edu 37 22 17117949 17117949 + RNA SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 22 17117949 17117949 G A SNP TPTEP1 ENST00000383140 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors TPTEP1 HGNC TUBB2B 347733 genome.wustl.edu 37 6 3224826 3224826 + RNA SNP A A G TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 6 3224826 3224826 A G SNP TUBB2B ENST00000473006 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors TUBB2B HGNC TXNIP 10628 genome.wustl.edu 37 1 145439808 145439808 + Silent SNP T T C TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 145439808 145439808 T C SNP TXNIP ENST00000369317 human ensembl 70_37 +1 known silent c.354 p.Y118 1.000 pfam_Arrestin-like_N,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors TXNIP HGNC UBR4 23352 genome.wustl.edu 37 1 19437114 19437114 + RNA SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 19437114 19437114 C T SNP UBR4 ENST00000466969 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors UBR4 HGNC USH2A 7399 genome.wustl.edu 37 1 216348638 216348638 + Missense_Mutation SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 216348638 216348638 C T SNP USH2A ENST00000366943 human ensembl 70_37 -1 known missense c.4583 p.C1528Y 0.495 superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,pfscan_Laminin_G pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC UTP11L 51118 genome.wustl.edu 37 1 38484134 38484134 + Splice_Site SNP A A G TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 1 38484134 38484134 A G SNP UTP11L ENST00000373014 human ensembl 70_37 +1 known splice_site c.229-2 e4-2 0.999 - - - no_errors UTP11L HGNC VPS4B 9525 genome.wustl.edu 37 18 61074678 61074678 + Silent SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 18 61074678 61074678 C T SNP VPS4B ENST00000238497 human ensembl 70_37 -1 known silent c.351 p.Q117 1.000 NULL pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_MIT,smart_AAA+_ATPase - no_errors VPS4B HGNC WDR55 54853 genome.wustl.edu 37 5 140047914 140047914 + Missense_Mutation SNP G G T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 5 140047914 140047914 G T SNP WDR55 ENST00000358337 human ensembl 70_37 +1 known missense c.287 p.G96V 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p55,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p55,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR55 HGNC YTHDC2 64848 genome.wustl.edu 37 5 112884255 112884255 + Missense_Mutation SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 5 112884255 112884255 G A SNP YTHDC2 ENST00000161863 human ensembl 70_37 +1 known missense c.1513 p.E505K 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors YTHDC2 HGNC ZNF133 7692 genome.wustl.edu 37 20 18295839 18295839 + Missense_Mutation SNP G G C TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 20 18295839 18295839 G C SNP ZNF133 ENST00000396026 human ensembl 70_37 +1 known missense c.353 p.G118A 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 ZNF133 HGNC ZNF16 7564 genome.wustl.edu 37 8 146156819 146156819 + Missense_Mutation SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 8 146156819 146156819 G A SNP ZNF16 ENST00000276816 human ensembl 70_37 -1 known missense c.1354 p.R452W 0.044 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF16 HGNC ZNF831 128611 genome.wustl.edu 37 20 57767394 57767394 + Silent SNP C C T TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25cea399-9ddb-4c2c-9fa3-b0d9895a51db bcbc833b-04a1-4bf0-af6c-57b5f0b15f69 20 57767394 57767394 C T SNP ZNF831 ENST00000371030 human ensembl 70_37 +1 novel silent c.1320 p.I440 0.989 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC