Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF ACTRT2 0 genome.wustl.edu 37 1 2938312 2938312 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 1 2938312 2938312 G A SNP ACTRT2 ENST00000378404 human ensembl 74_37 +1 known missense c.62 p.C21Y 0.998 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTRT2 HGNC ENSG00000169717 tier1 - - 74 0 0.00 35 15 30.00 AFF4 0 genome.wustl.edu 37 5 132232559 132232559 + Missense_Mutation SNP G G T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 5 132232559 132232559 G T SNP AFF4 ENST00000265343 human ensembl 74_37 -1 known missense c.1763 p.T588N 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF4 HGNC ENSG00000072364 tier1 - - 88 0 0.00 51 6 10.53 AGMO 0 genome.wustl.edu 37 7 15584446 15584446 + Silent SNP G G C TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 7 15584446 15584446 G C SNP AGMO ENST00000342526 human ensembl 74_37 -1 known silent c.360 p.A120 0.963 pfam_Fatty_acid_hydroxylase pfam_Fatty_acid_hydroxylase - no_errors AGMO HGNC ENSG00000187546 tier1 - - 175 0 0.00 177 19 9.69 AKAP8 0 genome.wustl.edu 37 19 15484850 15484850 + Missense_Mutation SNP C C A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 19 15484850 15484850 C A SNP AKAP8 ENST00000269701 human ensembl 74_37 -1 known missense c.118 p.A40S 0.215 NULL pfam_AKAP95 - no_errors AKAP8 HGNC ENSG00000105127 tier1 - - 139 0 0.00 55 5 8.33 AKR1C1 0 genome.wustl.edu 37 10 5008192 5008192 + Silent SNP T T C TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 10 5008192 5008192 T C SNP AKR1C1 ENST00000380872 human ensembl 74_37 +1 known silent c.171 p.N57 0.993 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1C1 HGNC ENSG00000187134 tier1 - - 99 0 0.00 57 6 9.52 ALPI 0 genome.wustl.edu 37 2 233321047 233321047 + Frame_Shift_Del DEL C C - TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 233321047 233321047 C - DEL ALPI ENST00000457560 human ensembl 74_37 +1 known frame_shift_del c.138 p.L48fs 0.001 NULL NULL - no_errors ALPI HGNC ENSG00000163295 tier1 122 0 0.00 59 11 15.71 ALPK1 0 genome.wustl.edu 37 4 113353715 113353715 + Silent SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 4 113353715 113353715 C T SNP ALPK1 ENST00000177648 human ensembl 74_37 +1 known silent c.3012 p.P1004 0.113 superfamily_Kinase-like_dom pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors ALPK1 HGNC ENSG00000073331 tier1 - - 153 0 0.00 86 19 18.10 AP3S1 0 genome.wustl.edu 37 5 115238605 115238605 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 5 115238605 115238605 G A SNP AP3S1 ENST00000316788 human ensembl 74_37 +1 known missense c.369 p.M123I 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu - no_errors AP3S1 HGNC ENSG00000177879 tier1 rs74907835 - 105 0 0.00 86 9 9.47 AP3S1 0 genome.wustl.edu 37 5 115238635 115238635 + Silent SNP T T C TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 5 115238635 115238635 T C SNP AP3S1 ENST00000316788 human ensembl 74_37 +1 known silent c.399 p.N133 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu - no_errors AP3S1 HGNC ENSG00000177879 tier1 rs147903679 - 114 0 0.00 92 9 8.91 APC 0 genome.wustl.edu 37 5 112175951 112175952 + Frame_Shift_Ins INS - - A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 5 112175951 112175952 - A INS APC ENST00000257430 human ensembl 74_37 +1 known frame_shift_ins c.4660_4661 p.T1556fs 0.925:0.945 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 tier1 80 0 0.00 46 33 41.77 AQP3 0 genome.wustl.edu 37 9 33442855 33442855 + Missense_Mutation SNP C C G TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 9 33442855 33442855 C G SNP AQP3 ENST00000297991 human ensembl 74_37 -1 known missense c.487 p.D163H 1.000 pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_3,prints_MIP,tigrfam_MIP - no_errors AQP3 HGNC ENSG00000165272 tier1 - - 322 0 0.00 214 18 7.76 ATP4A 0 genome.wustl.edu 37 19 36048715 36048715 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 19 36048715 36048715 G A SNP ATP4A ENST00000262623 human ensembl 74_37 -1 known missense c.1535 p.P512L 0.066 superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP4A HGNC ENSG00000105675 tier1 - - 23 0 0.00 6 3 33.33 ATR 0 genome.wustl.edu 37 3 142275400 142275400 + Nonsense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 3 142275400 142275400 G A SNP ATR ENST00000350721 human ensembl 74_37 -1 known nonsense c.1903 p.R635* 0.500 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 tier1 - - 127 0 0.00 59 23 27.71 BOD1L1 0 genome.wustl.edu 37 4 13600735 13600735 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 4 13600735 13600735 G A SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known missense c.7789 p.P2597S 0.020 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 tier1 - - 92 0 0.00 32 29 47.54 BOLL 0 genome.wustl.edu 37 2 198641828 198641828 + Silent SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 198641828 198641828 G A SNP BOLL ENST00000321801 human ensembl 74_37 -1 known silent c.267 p.F89 0.171 pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom - no_errors BOLL HGNC ENSG00000152430 tier1 - - 61 0 0.00 46 5 9.80 BRCA2 0 genome.wustl.edu 37 13 32911836 32911836 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 13 32911836 32911836 C T SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known missense c.3344 p.S1115F 1.000 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 tier1 - - 83 0 0.00 69 29 29.59 BTNL2 0 genome.wustl.edu 37 6 32372905 32372905 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 6 32372905 32372905 C T SNP BTNL2 ENST00000454136 human ensembl 74_37 -1 known missense c.238 p.G80R 0.749 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors BTNL2 HGNC ENSG00000204290 tier1 - - 217 0 0.00 156 27 14.75 CA5A 0 genome.wustl.edu 37 16 87960481 87960481 + Missense_Mutation SNP C C A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 16 87960481 87960481 C A SNP CA5A ENST00000309893 human ensembl 74_37 -1 known missense c.213 p.W71C 0.317 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA5A HGNC ENSG00000174990 tier1 - - 27 0 0.00 11 8 42.11 CAB39 0 genome.wustl.edu 37 2 231624768 231624768 + Missense_Mutation SNP A A T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 231624768 231624768 A T SNP CAB39 ENST00000258418 human ensembl 74_37 +1 known missense c.52 p.N18Y 1.000 pfam_Mo25,superfamily_ARM-type_fold pfam_Mo25,superfamily_ARM-type_fold - no_errors CAB39 HGNC ENSG00000135932 tier1 - - 154 0 0.00 93 8 7.92 CAB39 0 genome.wustl.edu 37 2 231624774 231624774 + Nonsense_Mutation SNP A A T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 231624774 231624774 A T SNP CAB39 ENST00000258418 human ensembl 74_37 +1 known nonsense c.58 p.K20* 1.000 pfam_Mo25,superfamily_ARM-type_fold pfam_Mo25,superfamily_ARM-type_fold - no_errors CAB39 HGNC ENSG00000135932 tier1 - - 148 0 0.00 93 7 7.00 CBLC 0 genome.wustl.edu 37 19 45293274 45293274 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 19 45293274 45293274 G A SNP CBLC ENST00000270279 human ensembl 74_37 +1 known missense c.931 p.D311N 0.999 pfam_Adaptor_Cbl_SH2-like pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Adaptor_Cbl_N_hlx,pfam_Znf_C3HC4_RING-type,superfamily_Adaptor_Cbl_N_hlx,smart_Znf_RING,pfscan_Znf_RING - no_errors CBLC HGNC ENSG00000142273 tier1 - - 279 0 0.00 160 83 34.16 CCDC6 0 genome.wustl.edu 37 10 61552820 61552820 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 10 61552820 61552820 G A SNP CCDC6 ENST00000263102 human ensembl 74_37 -1 known missense c.1280 p.T427M 1.000 NULL pfam_DUF2046 - no_errors CCDC6 HGNC ENSG00000108091 tier1 - - 80 0 0.00 29 29 50.00 CDH8 0 genome.wustl.edu 37 16 61851406 61851406 + Silent SNP A A G TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 16 61851406 61851406 A G SNP CDH8 ENST00000577390 human ensembl 74_37 -1 known silent c.1254 p.P418 0.970 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 CDH8 HGNC ENSG00000150394 tier1 - - 76 0 0.00 53 10 15.87 CECR1 0 genome.wustl.edu 37 22 17662742 17662742 + Silent SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 22 17662742 17662742 C T SNP CECR1 ENST00000262607 human ensembl 74_37 -1 known silent c.1410 p.R470 1.000 pfam_A/AMP_deaminase_dom,tigrfam_Ad_deam-like pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like - no_errors CECR1 HGNC ENSG00000093072 tier1 - - 72 0 0.00 23 26 53.06 CECR1 0 genome.wustl.edu 37 22 17690543 17690543 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 22 17690543 17690543 G A SNP CECR1 ENST00000262607 human ensembl 74_37 -1 known missense c.25 p.R9W 0.000 NULL pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like - no_errors CECR1 HGNC ENSG00000093072 tier1 - - 65 0 0.00 35 8 18.60 CEP192 0 genome.wustl.edu 37 18 13068139 13068139 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 18 13068139 13068139 G A SNP CEP192 ENST00000506447 human ensembl 74_37 +1 known missense c.4661 p.R1554Q 0.000 NULL NULL - no_errors CEP192 HGNC ENSG00000101639 tier1 - - 120 0 0.00 141 13 8.44 CLSTN3 0 genome.wustl.edu 37 12 7287991 7287991 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 12 7287991 7287991 G A SNP CLSTN3 ENST00000266546 human ensembl 74_37 +1 known missense c.452 p.R151H 0.906 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN3 HGNC ENSG00000139182 tier1 - - 121 0 0.00 81 34 29.57 CNTNAP5 0 genome.wustl.edu 37 2 125261960 125261960 + Missense_Mutation SNP C C G TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 125261960 125261960 C G SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.1151 p.P384R 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 tier1 - - 118 0 0.00 71 31 30.39 COG6 0 genome.wustl.edu 37 13 40254100 40254101 + RNA INS - - T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 13 40254100 40254101 - T INS COG6 ENST00000465775 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors COG6 HGNC ENSG00000133103 tier1 41 0 0.00 29 11 27.50 COL11A1 0 genome.wustl.edu 37 1 103352579 103352579 + Missense_Mutation SNP T T A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 1 103352579 103352579 T A SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.4678 p.I1560F 0.999 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 tier1 - - 155 0 0.00 65 23 26.14 COL12A1 0 genome.wustl.edu 37 6 75890837 75890838 + Frame_Shift_Ins INS - - A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 6 75890837 75890838 - A INS COL12A1 ENST00000322507 human ensembl 74_37 -1 known frame_shift_ins c.1982_1981 p.S661fs 1.000:0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 tier1 54 0 0.00 38 17 30.91 COX7A2L 0 genome.wustl.edu 37 2 42578274 42578275 + RNA INS - - A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 42578274 42578275 - A INS COX7A2L ENST00000482463 human ensembl 74_37 -1 known rna NULL NULL 0.002:0.000 - - - no_errors COX7A2L HGNC ENSG00000115944 tier1 15 0 0.00 5 2 28.57 CPSF1 0 genome.wustl.edu 37 8 145622114 145622114 + Nonsense_Mutation SNP C C A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 8 145622114 145622114 C A SNP CPSF1 ENST00000349769 human ensembl 74_37 -1 known nonsense c.2623 p.E875* 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 tier1 - - 54 0 0.00 27 9 25.00 CRB3 0 genome.wustl.edu 37 19 6466662 6466662 + Frame_Shift_Del DEL G G - TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 19 6466662 6466662 G - DEL CRB3 ENST00000308243 human ensembl 74_37 +1 known frame_shift_del c.342 p.P115fs 0.900 NULL NULL - no_errors CRB3 HGNC ENSG00000130545 tier1 53 0 0.00 15 2 11.76 CSMD3 0 genome.wustl.edu 37 8 113933896 113933896 + Missense_Mutation SNP T T G TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 8 113933896 113933896 T G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.1593 p.E531D 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 - - 113 0 0.00 75 44 36.97 CST8 0 genome.wustl.edu 37 20 23473666 23473666 + Silent SNP T T G TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 20 23473666 23473666 T G SNP CST8 ENST00000246012 human ensembl 74_37 +1 known silent c.303 p.T101 0.000 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST8 HGNC ENSG00000125815 tier1 - - 217 0 0.00 123 11 8.21 CTNNA2 0 genome.wustl.edu 37 2 80831299 80831299 + Missense_Mutation SNP G G T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 80831299 80831299 G T SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known missense c.2392 p.D798Y 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 tier1 - - 82 0 0.00 33 7 17.50 DIRAS1 0 genome.wustl.edu 37 19 2717373 2717373 + Silent SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 19 2717373 2717373 G A SNP DIRAS1 ENST00000323469 human ensembl 74_37 -1 known silent c.432 p.C144 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors DIRAS1 HGNC ENSG00000176490 tier1 - - 173 0 0.00 81 33 28.95 DLGAP1 0 genome.wustl.edu 37 18 3534261 3534261 + Nonsense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 18 3534261 3534261 G A SNP DLGAP1 ENST00000315677 human ensembl 74_37 -1 known nonsense c.2410 p.R804* 0.999 pfam_GKAP pfam_GKAP - no_errors DLGAP1 HGNC ENSG00000170579 tier1 - - 119 0 0.00 123 17 12.14 DLX5 0 genome.wustl.edu 37 7 96651624 96651624 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 7 96651624 96651624 C T SNP DLX5 ENST00000222598 human ensembl 74_37 -1 known missense c.413 p.R138H 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Distal-less_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX5 HGNC ENSG00000105880 tier1 - - 183 0 0.00 118 14 10.53 DNAJC16 0 genome.wustl.edu 37 1 15886050 15886050 + Silent SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 1 15886050 15886050 C T SNP DNAJC16 ENST00000375847 human ensembl 74_37 +1 known silent c.1053 p.D351 0.104 NULL pfam_DnaJ_domain,pfam_Thioredoxin_domain,superfamily_DnaJ_domain,superfamily_Thioredoxin-like_fold,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC16 HGNC ENSG00000116138 tier1 - - 211 0 0.00 170 14 7.61 DUSP9 0 genome.wustl.edu 37 X 152914821 152914821 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 X 152914821 152914821 G A SNP DUSP9 ENST00000342782 human ensembl 74_37 +1 known missense c.508 p.D170N 0.999 pirsf_MKP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP9 HGNC ENSG00000130829 tier1 - - 45 0 0.00 14 6 30.00 DVL1 0 genome.wustl.edu 37 1 1274026 1274026 + Frame_Shift_Del DEL T T - TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 1 1274026 1274026 T - DEL DVL1 ENST00000378888 human ensembl 74_37 -1 known frame_shift_del c.1215 p.E406fs 0.843 NULL pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam - no_errors DVL1 HGNC ENSG00000107404 tier1 52 0 0.00 18 2 10.00 ECEL1 0 genome.wustl.edu 37 2 233348908 233348908 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 233348908 233348908 G A SNP ECEL1 ENST00000304546 human ensembl 74_37 -1 known missense c.1210 p.R404C 1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECEL1 HGNC ENSG00000171551 tier1 - - 50 0 0.00 33 6 15.38 EDIL3 0 genome.wustl.edu 37 5 83680162 83680162 + Missense_Mutation SNP C C A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 5 83680162 83680162 C A SNP EDIL3 ENST00000296591 human ensembl 74_37 -1 known missense c.31 p.V11F 0.021 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors EDIL3 HGNC ENSG00000164176 tier1 - - 181 0 0.00 44 30 40.00 EIF4G1 0 genome.wustl.edu 37 3 184039582 184039582 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 3 184039582 184039582 C T SNP EIF4G1 ENST00000352767 human ensembl 74_37 +1 known missense c.1231 p.L411F 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G1 HGNC ENSG00000114867 tier1 - - 422 0 0.00 279 61 17.94 ENPEP 0 genome.wustl.edu 37 4 111397617 111397617 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 4 111397617 111397617 C T SNP ENPEP ENST00000265162 human ensembl 74_37 +1 known missense c.47 p.T16M 0.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ENPEP HGNC ENSG00000138792 tier1 - - 212 0 0.00 130 14 9.72 ENSG00000187812 0 genome.wustl.edu 37 15 76073330 76073330 + RNA SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 15 76073330 76073330 G A SNP ENSG00000187812 ENST00000395215 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors RP11-24M17.5 Clone_based_vega_gene ENSG00000187812 tier1 - - 118 0 0.00 62 7 10.14 ENSG00000224666 0 genome.wustl.edu 37 6 36359698 36359698 + RNA DEL A A - TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 6 36359698 36359698 A - DEL ENSG00000224666 ENST00000411643 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors RP1-50J22.4 Clone_based_vega_gene ENSG00000224666 tier1 25 0 0.00 11 2 15.38 ENSG00000258851 0 genome.wustl.edu 37 14 104028197 104028197 + RNA DEL A A - TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 14 104028197 104028197 A - DEL ENSG00000258851 ENST00000556332 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors RP11-894P9.2 Clone_based_vega_gene ENSG00000258851 tier1 36 0 0.00 21 2 8.70 ENSG00000266283 0 genome.wustl.edu 37 18 19780588 19780588 + RNA SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 18 19780588 19780588 G A SNP ENSG00000266283 ENST00000583442 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors RP11-627G18.1 Clone_based_vega_gene ENSG00000266283 tier1 - - 209 0 0.00 249 136 35.32 EPHA6 0 genome.wustl.edu 37 3 97466293 97466293 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 3 97466293 97466293 C T SNP EPHA6 ENST00000389672 human ensembl 74_37 +1 known missense c.3155 p.P1052L 0.848 superfamily_SAM/pointed,smart_SAM pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA6 HGNC ENSG00000080224 tier1 - - 15 0 0.00 6 8 57.14 EPHB1 0 genome.wustl.edu 37 3 134967263 134967263 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 3 134967263 134967263 C T SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known missense c.2602 p.R868W 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 tier1 - - 93 0 0.00 46 14 23.33 EXD1 0 genome.wustl.edu 37 15 41476611 41476611 + Missense_Mutation SNP A A T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 15 41476611 41476611 A T SNP EXD1 ENST00000314992 human ensembl 74_37 -1 known missense c.1063 p.L355I 0.000 NULL pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD1 HGNC ENSG00000178997 tier1 - - 186 0 0.00 145 16 9.94 FABP9 0 genome.wustl.edu 37 8 82371457 82371457 + Silent SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 8 82371457 82371457 G A SNP FABP9 ENST00000379071 human ensembl 74_37 -1 known silent c.189 p.I63 1.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors FABP9 HGNC ENSG00000205186 tier1 - - 189 0 0.00 172 18 9.47 FAM65C 0 genome.wustl.edu 37 20 49211914 49211914 + Missense_Mutation SNP A A G TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 20 49211914 49211914 A G SNP FAM65C ENST00000535356 human ensembl 74_37 -1 known missense c.2042 p.I681T 0.046 NULL superfamily_ARM-type_fold,superfamily_Chemokine_IL8-like_dom - no_errors FAM65C HGNC ENSG00000042062 tier1 - - 252 0 0.00 177 14 7.33 FHOD3 0 genome.wustl.edu 37 18 34340742 34340742 + Nonsense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 18 34340742 34340742 C T SNP FHOD3 ENST00000257209 human ensembl 74_37 +1 known nonsense c.4072 p.R1358* 1.000 NULL pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD3 HGNC ENSG00000134775 tier1 - - 61 0 0.00 1 9 90.00 FLRT2 0 genome.wustl.edu 37 14 86088495 86088495 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 14 86088495 86088495 G A SNP FLRT2 ENST00000330753 human ensembl 74_37 +1 known missense c.637 p.G213R 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 tier1 - - 145 0 0.00 89 46 34.07 FMNL2 0 genome.wustl.edu 37 2 153493045 153493045 + Frame_Shift_Del DEL T T - TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 153493045 153493045 T - DEL FMNL2 ENST00000288670 human ensembl 74_37 +1 known frame_shift_del c.2785 p.F929fs 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour - no_errors FMNL2 HGNC ENSG00000157827 tier1 18 0 0.00 4 2 33.33 FOCAD 0 genome.wustl.edu 37 9 20866978 20866978 + Silent SNP A A T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 9 20866978 20866978 A T SNP FOCAD ENST00000338382 human ensembl 74_37 +1 known silent c.2157 p.A719 0.031 superfamily_ARM-type_fold pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC ENSG00000188352 tier1 - - 174 0 0.00 98 6 5.77 FOSB 0 genome.wustl.edu 37 19 45974160 45974160 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 19 45974160 45974160 C T SNP FOSB ENST00000353609 human ensembl 74_37 +1 known missense c.400 p.P134S 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOSB HGNC ENSG00000125740 117 0 0.00 56 6 9.68 GABRB1 0 genome.wustl.edu 37 4 47405441 47405441 + Missense_Mutation SNP G G C TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 4 47405441 47405441 G C SNP GABRB1 ENST00000295454 human ensembl 74_37 +1 known missense c.651 p.K217N 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB1 HGNC ENSG00000163288 tier1 - - 72 0 0.00 54 7 11.48 GAL3ST3 0 genome.wustl.edu 37 11 65810784 65810784 + Missense_Mutation SNP A A G TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 11 65810784 65810784 A G SNP GAL3ST3 ENST00000312006 human ensembl 74_37 -1 known missense c.490 p.Y164H 1.000 pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST3 HGNC ENSG00000175229 tier1 - - 46 0 0.00 2 4 66.67 GP2 0 genome.wustl.edu 37 16 20328576 20328576 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 16 20328576 20328576 C T SNP GP2 ENST00000381362 human ensembl 74_37 -1 known missense c.1384 p.E462K 1.000 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors GP2 HGNC ENSG00000169347 tier1 - - 71 0 0.00 49 18 26.87 GPR45 0 genome.wustl.edu 37 2 105858915 105858915 + Frame_Shift_Del DEL G G - TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 105858915 105858915 G - DEL GPR45 ENST00000258456 human ensembl 74_37 +1 known frame_shift_del c.600 p.V201fs 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR45 HGNC ENSG00000135973 tier1 37 0 0.00 9 2 18.18 GPR55 0 genome.wustl.edu 37 2 231775046 231775046 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 231775046 231775046 C T SNP GPR55 ENST00000392039 human ensembl 74_37 -1 known missense c.632 p.R211H 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR55 HGNC ENSG00000135898 tier1 - - 125 0 0.00 70 7 9.09 HIP1R 0 genome.wustl.edu 37 12 123335393 123335394 + Frame_Shift_Ins INS - - C TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 12 123335393 123335394 - C INS HIP1R ENST00000253083 human ensembl 74_37 +1 known frame_shift_ins c.450_451 p.A151fs 1.000:1.000 pfam_ANTH_dom,smart_Epsin-like_N,pfscan_Epsin-like_N pfam_ANTH_dom,pfam_ILWEQ_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_ILWEQ_dom,pfscan_Epsin-like_N,pfscan_ILWEQ_dom - no_errors HIP1R HGNC ENSG00000130787 tier1 52 0 0.00 15 2 11.76 HIST1H2BO 0 genome.wustl.edu 37 6 27861305 27861305 + Missense_Mutation SNP C C G TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 6 27861305 27861305 C G SNP HIST1H2BO ENST00000303806 human ensembl 74_37 +1 known missense c.65 p.A22G 1.000 superfamily_Histone-fold pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BO HGNC ENSG00000196331 tier1 - - 108 0 0.00 91 10 9.90 HMHA1 0 genome.wustl.edu 37 19 1073509 1073509 + Silent SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 19 1073509 1073509 C T SNP HMHA1 ENST00000313093 human ensembl 74_37 +1 known silent c.570 p.F190 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors HMHA1 HGNC ENSG00000180448 tier1 - - 51 0 0.00 36 12 25.00 HS3ST3B1 0 genome.wustl.edu 37 17 14248369 14248369 + Silent SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 17 14248369 14248369 C T SNP HS3ST3B1 ENST00000360954 human ensembl 74_37 +1 known silent c.579 p.D193 0.071 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST3B1 HGNC ENSG00000125430 tier1 - - 76 0 0.00 40 9 18.00 HSPA8 0 genome.wustl.edu 37 11 122929368 122929368 + Missense_Mutation SNP C C G TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 11 122929368 122929368 C G SNP HSPA8 ENST00000534624 human ensembl 74_37 -1 known missense c.1494 p.E498D 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA8 HGNC ENSG00000109971 tier1 - - 122 0 0.00 63 36 36.36 HYDIN 0 genome.wustl.edu 37 16 70867965 70867965 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 16 70867965 70867965 C T SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.13504 p.E4502K 0.999 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 tier1 - - 84 0 0.00 47 6 11.32 ICK 0 genome.wustl.edu 37 6 52884073 52884073 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 6 52884073 52884073 C T SNP ICK ENST00000350082 human ensembl 74_37 -1 known missense c.443 p.R148Q 1.000 pfam_Prot_kinase_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_dom pfam_Prot_kinase_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_dom - no_errors ICK HGNC ENSG00000112144 tier1 - - 56 0 0.00 49 6 10.91 IFT172 0 genome.wustl.edu 37 2 27677454 27677454 + Missense_Mutation SNP C C A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 27677454 27677454 C A SNP IFT172 ENST00000260570 human ensembl 74_37 -1 known missense c.3445 p.A1149S 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 tier1 - - 95 0 0.00 69 15 17.86 IKBIP 0 genome.wustl.edu 37 12 99007735 99007735 + Silent SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 12 99007735 99007735 C T SNP IKBIP ENST00000342502 human ensembl 74_37 -1 known silent c.681 p.T227 0.025 NULL NULL - no_errors IKBIP HGNC ENSG00000166130 tier1 - - 75 0 0.00 15 22 59.46 INPP4A 0 genome.wustl.edu 37 2 99169332 99169332 + Missense_Mutation SNP T T C TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 99169332 99169332 T C SNP INPP4A ENST00000074304 human ensembl 74_37 +1 known missense c.1262 p.L421P 1.000 NULL superfamily_C2_dom - no_errors INPP4A HGNC ENSG00000040933 tier1 - - 33 0 0.00 22 4 15.38 KCNA3 0 genome.wustl.edu 37 1 111216188 111216188 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 1 111216188 111216188 G A SNP KCNA3 ENST00000369769 human ensembl 74_37 -1 known missense c.1244 p.A415V 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA3 HGNC ENSG00000177272 tier1 - - 62 0 0.00 39 11 22.00 KCNH8 0 genome.wustl.edu 37 3 19479730 19479730 + Nonsense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 3 19479730 19479730 C T SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known nonsense c.1252 p.R418* 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 tier1 - - 201 0 0.00 73 78 51.66 KCNT2 0 genome.wustl.edu 37 1 196254881 196254881 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 1 196254881 196254881 C T SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known missense c.2603 p.R868Q 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 tier1 - - 32 0 0.00 18 12 40.00 KIF21B 0 genome.wustl.edu 37 1 200968548 200968548 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 1 200968548 200968548 C T SNP KIF21B ENST00000422435 human ensembl 74_37 -1 known missense c.1814 p.R605H 0.105 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 tier1 rs147761216 - 141 0 0.00 112 10 8.20 KRTAP10-1 0 genome.wustl.edu 37 21 45959607 45959607 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 21 45959607 45959607 C T SNP KRTAP10-1 ENST00000400375 human ensembl 74_37 -1 known missense c.427 p.V143M 0.197 NULL NULL - no_errors KRTAP10-1 HGNC ENSG00000215455 tier1 - - 223 0 0.00 138 14 9.21 KRTAP21-1 0 genome.wustl.edu 37 21 32127676 32127676 + Silent SNP G G T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 21 32127676 32127676 G T SNP KRTAP21-1 ENST00000335093 human ensembl 74_37 -1 known silent c.21 p.G7 0.559 NULL NULL - no_errors KRTAP21-1 HGNC ENSG00000187005 tier1 - - 252 0 0.00 142 63 30.73 LAMA5 0 genome.wustl.edu 37 20 60909037 60909037 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 20 60909037 60909037 C T SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.2798 p.R933Q 1.000 NULL pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 tier1 - - 48 0 0.00 34 7 17.07 LPIN1 0 genome.wustl.edu 37 2 11907974 11907974 + Missense_Mutation SNP A A T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 11907974 11907974 A T SNP LPIN1 ENST00000449576 human ensembl 74_37 +1 known missense c.425 p.D142V 1.000 pfam_Lipin_N pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2 - no_errors LPIN1 HGNC ENSG00000134324 67 0 0.00 38 4 9.52 LRP5 0 genome.wustl.edu 37 11 68193553 68193553 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 11 68193553 68193553 C T SNP LRP5 ENST00000294304 human ensembl 74_37 +1 known missense c.3535 p.R1179C 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6,smart_LDLR_classB_rpt pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 tier1 - - 181 0 0.00 129 23 15.13 LRRC16B 0 genome.wustl.edu 37 14 24535653 24535653 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 14 24535653 24535653 G A SNP LRRC16B ENST00000342740 human ensembl 74_37 +1 known missense c.3572 p.R1191Q 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC ENSG00000186648 tier1 - - 268 0 0.00 143 47 24.74 MCM3 0 genome.wustl.edu 37 6 52142412 52142412 + Silent SNP G G C TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 6 52142412 52142412 G C SNP MCM3 ENST00000596288 human ensembl 74_37 -1 known silent c.1089 p.L363 0.984 pfam_MCM_DNA-dep_ATPase,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_Mcm3 - no_errors MCM3 HGNC ENSG00000112118 tier1 - - 133 0 0.00 78 19 19.59 ME3 0 genome.wustl.edu 37 11 86158190 86158190 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 11 86158190 86158190 G A SNP ME3 ENST00000359636 human ensembl 74_37 -1 known missense c.1297 p.H433Y 1.000 pfam_Malic_NAD-bd,smart_Malic_NAD-bd,prints_Malic_OxRdtase pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME3 HGNC ENSG00000151376 tier1 - - 105 0 0.00 50 11 18.03 METTL4 0 genome.wustl.edu 37 18 2566839 2566839 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 18 2566839 2566839 G A SNP METTL4 ENST00000574538 human ensembl 74_37 -1 known missense c.377 p.S126F 0.008 NULL pfam_MT-A70-like,pfscan_MT-A70-like - no_errors METTL4 HGNC ENSG00000101574 tier1 - - 31 0 0.00 40 8 16.67 MISP 0 genome.wustl.edu 37 19 757997 757997 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 19 757997 757997 G A SNP MISP ENST00000215582 human ensembl 74_37 +1 known missense c.1051 p.V351M 0.975 NULL NULL - no_errors MISP HGNC ENSG00000099812 tier1 - - 43 0 0.00 7 8 53.33 MLLT6 0 genome.wustl.edu 37 17 36861913 36861914 + Frame_Shift_Ins INS - - T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 17 36861913 36861914 - T INS MLLT6 ENST00000325718 human ensembl 74_37 +1 known frame_shift_ins c.28_29 p.C11fs 1.000:1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MLLT6 HGNC ENSG00000108292 tier1 177 0 0.00 84 38 31.15 MON1B 0 genome.wustl.edu 37 16 77227645 77227645 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 16 77227645 77227645 C T SNP MON1B ENST00000248248 human ensembl 74_37 +1 known missense c.446 p.A149V 1.000 pfam_Vacuolar_fusion_protein_MON1 pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1 - no_errors MON1B HGNC ENSG00000103111 tier1 rs200826983 - 92 0 0.00 49 20 28.99 MUC16 0 genome.wustl.edu 37 19 9074884 9074884 + Missense_Mutation SNP G G T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 19 9074884 9074884 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.12562 p.P4188T 0.003 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 78 0 0.00 65 10 13.33 MUC20 0 genome.wustl.edu 37 3 195447886 195447886 + Missense_Mutation SNP G G C TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 3 195447886 195447886 G C SNP MUC20 ENST00000447234 human ensembl 74_37 +1 known missense c.8 p.C3S 0.629 NULL NULL - no_errors MUC20 HGNC ENSG00000176945 tier1 rs7627924 - 11 0 0.00 3 5 62.50 MYADM 0 genome.wustl.edu 37 19 54377192 54377192 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 19 54377192 54377192 G A SNP MYADM ENST00000336967 human ensembl 74_37 +1 known missense c.409 p.A137T 1.000 pfam_Marvel pfam_Marvel - no_errors MYADM HGNC ENSG00000179820 tier1 - - 204 0 0.00 85 37 30.33 MYCT1 0 genome.wustl.edu 37 6 153042975 153042975 + Missense_Mutation SNP G G T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 6 153042975 153042975 G T SNP MYCT1 ENST00000367245 human ensembl 74_37 +1 known missense c.295 p.A99S 1.000 NULL NULL - no_errors MYCT1 HGNC ENSG00000120279 tier1 - - 106 0 0.00 81 6 6.90 MYO3A 0 genome.wustl.edu 37 10 26462699 26462699 + Missense_Mutation SNP T T C TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 10 26462699 26462699 T C SNP MYO3A ENST00000265944 human ensembl 74_37 +1 known missense c.3506 p.F1169S 0.001 superfamily_P-loop_NTPase pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,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_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 tier1 - - 55 0 0.00 39 4 9.30 NARG2 0 genome.wustl.edu 37 15 60734733 60734733 + Silent SNP A A C TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 15 60734733 60734733 A C SNP NARG2 ENST00000261520 human ensembl 74_37 -1 known silent c.2307 p.V769 0.255 pfam_NARG2_C pfam_NARG2_C - no_errors NARG2 HGNC ENSG00000128915 tier1 - - 103 0 0.00 55 5 8.33 NBEA 0 genome.wustl.edu 37 13 35770201 35770201 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 13 35770201 35770201 G A SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.5128 p.E1710K 0.999 NULL 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 ENSG00000172915 tier1 - - 66 0 0.00 57 14 19.72 NCKAP1 0 genome.wustl.edu 37 2 183792844 183792844 + Splice_Site SNP C C G TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 183792844 183792844 C G SNP NCKAP1 ENST00000360982 human ensembl 74_37 -1 known splice_site c.3198+1 e30+1 1.000 - - - no_errors NCKAP1 HGNC ENSG00000061676 87 0 0.00 69 11 13.75 NCKAP1 0 genome.wustl.edu 37 2 183818060 183818060 + Splice_Site SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 183818060 183818060 C T SNP NCKAP1 ENST00000360982 human ensembl 74_37 -1 known splice_site c.2172-1 e22-1 1.000 - - - no_errors NCKAP1 HGNC ENSG00000061676 44 0 0.00 50 12 19.35 NDC80 0 genome.wustl.edu 37 18 2578995 2578995 + Silent SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 18 2578995 2578995 G A SNP NDC80 ENST00000261597 human ensembl 74_37 +1 known silent c.546 p.V182 1.000 pfam_Kinetochore_Ndc80 pfam_Kinetochore_Ndc80,superfamily_t-SNARE - no_errors NDC80 HGNC ENSG00000080986 tier1 - - 109 0 0.00 95 11 10.38 NEO1 0 genome.wustl.edu 37 15 73415025 73415025 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 15 73415025 73415025 G A SNP NEO1 ENST00000261908 human ensembl 74_37 +1 known missense c.608 p.S203N 0.996 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NEO1 HGNC ENSG00000067141 tier1 - - 145 0 0.00 101 6 5.61 NEO1 0 genome.wustl.edu 37 15 73562536 73562536 + Nonsense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 15 73562536 73562536 C T SNP NEO1 ENST00000261908 human ensembl 74_37 +1 known nonsense c.2680 p.R894* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NEO1 HGNC ENSG00000067141 tier1 - - 91 0 0.00 54 7 11.48 NFIB 0 genome.wustl.edu 37 9 14120531 14120531 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 9 14120531 14120531 G A SNP NFIB ENST00000397581 human ensembl 74_37 -1 known missense c.1153 p.P385S 1.000 pfam_CTF/NFI pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIB HGNC ENSG00000147862 tier1 - - 111 0 0.00 39 16 29.09 NPFFR2 0 genome.wustl.edu 37 4 72897735 72897735 + Silent SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 4 72897735 72897735 C T SNP NPFFR2 ENST00000308744 human ensembl 74_37 +1 known silent c.117 p.R39 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPFF_rcpt_2,prints_NPFF_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPFFR2 HGNC ENSG00000056291 tier1 - - 103 0 0.00 29 8 21.62 NT5M 0 genome.wustl.edu 37 17 17207071 17207071 + Frame_Shift_Del DEL G G - TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 17 17207071 17207071 G - DEL NT5M ENST00000389022 human ensembl 74_37 +1 known frame_shift_del c.207 p.E70fs 1.000 pfam_5'(3')-deoxyribonucleotidase,superfamily_HAD-like_dom pfam_5'(3')-deoxyribonucleotidase,superfamily_HAD-like_dom - no_errors NT5M HGNC ENSG00000205309 tier1 55 0 0.00 10 2 16.67 NTF3 0 genome.wustl.edu 37 12 5604101 5604101 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 12 5604101 5604101 C T SNP NTF3 ENST00000423158 human ensembl 74_37 +1 known missense c.760 p.R254W 1.000 pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pirsf_Nerve_growth_factor-like,pfscan_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pirsf_Nerve_growth_factor-like,pfscan_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,prints_Neurotrophin-3 - no_errors NTF3 HGNC ENSG00000185652 tier1 - - 48 0 0.00 41 5 10.87 OGFOD3 0 genome.wustl.edu 37 17 80352405 80352405 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 17 80352405 80352405 G A SNP OGFOD3 ENST00000329197 human ensembl 74_37 -1 known missense c.838 p.R280W 0.001 smart_Pro_4_hyd_alph smart_Pro_4_hyd_alph - no_errors OGFOD3 HGNC ENSG00000181396 tier1 - - 91 0 0.00 53 18 25.35 OR14I1 0 genome.wustl.edu 37 1 248845077 248845077 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 1 248845077 248845077 G A SNP OR14I1 ENST00000342623 human ensembl 74_37 -1 known missense c.529 p.R177C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt - no_errors OR14I1 HGNC ENSG00000189181 tier1 rs141659105 - 55 0 0.00 49 4 7.55 OR6T1 0 genome.wustl.edu 37 11 123813782 123813782 + Missense_Mutation SNP G G T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 11 123813782 123813782 G T SNP OR6T1 ENST00000321252 human ensembl 74_37 -1 known missense c.764 p.S255Y 0.962 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6T1 HGNC ENSG00000181499 tier1 - - 152 0 0.00 77 23 23.00 OR8J3 0 genome.wustl.edu 37 11 55904620 55904620 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 11 55904620 55904620 G A SNP OR8J3 ENST00000301529 human ensembl 74_37 -1 known missense c.575 p.T192I 0.962 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8J3 HGNC ENSG00000167822 tier1 - - 78 0 0.00 80 13 13.98 OR9A4 0 genome.wustl.edu 37 7 141619580 141619580 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 7 141619580 141619580 G A SNP OR9A4 ENST00000548136 human ensembl 74_37 +1 known missense c.905 p.R302Q 0.002 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9A4 HGNC ENSG00000258083 tier1 - - 107 0 0.00 78 28 26.17 PACS2 0 genome.wustl.edu 37 14 105849775 105849775 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 14 105849775 105849775 C T SNP PACS2 ENST00000458164 human ensembl 74_37 +1 known missense c.1705 p.R569W 0.995 pfam_Phosphofurin_acidic_CS-1 pfam_Phosphofurin_acidic_CS-1 - no_errors PACS2 HGNC ENSG00000179364 tier1 - - 93 0 0.00 36 22 37.93 PAX3 0 genome.wustl.edu 37 2 223065899 223065899 + Missense_Mutation SNP C C A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 223065899 223065899 C A SNP PAX3 ENST00000392069 human ensembl 74_37 -1 known missense c.1512 p.E504D 0.091 NULL pfam_Paired_dom,pfam_Pax7,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX3 HGNC ENSG00000135903 tier1 - - 58 0 0.00 34 6 15.00 PCDHB6 0 genome.wustl.edu 37 5 140531355 140531355 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 5 140531355 140531355 C T SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known missense c.1517 p.A506V 0.291 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 tier1 - - 251 0 0.00 67 81 54.73 PCDHGA2 0 genome.wustl.edu 37 5 140718743 140718743 + Frame_Shift_Del DEL A A - TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 5 140718743 140718743 A 0 DEL PCDHGA2 ENST00000394576 human ensembl 74_37 +1 known frame_shift_del c.205 p.R69fs 0.986 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 122 0 0.00 102 9 8.11 PCDHGB1 0 genome.wustl.edu 37 5 140731511 140731511 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 5 140731511 140731511 G A SNP PCDHGB1 ENST00000523390 human ensembl 74_37 +1 known missense c.1684 p.A562T 0.080 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB1 HGNC ENSG00000254221 tier1 - - 125 0 0.00 20 11 35.48 PCDHGB3 0 genome.wustl.edu 37 5 140749978 140749978 + Missense_Mutation SNP G G T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 5 140749978 140749978 G T SNP PCDHGB3 ENST00000576222 human ensembl 74_37 +1 known missense c.17 p.G6V 0.001 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB3 HGNC ENSG00000262209 tier1 - - 61 0 0.00 27 20 42.55 PDE7A 0 genome.wustl.edu 37 8 66647072 66647072 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 8 66647072 66647072 G A SNP PDE7A ENST00000401827 human ensembl 74_37 -1 known missense c.653 p.A218V 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE7A HGNC ENSG00000205268 tier1 - - 190 0 0.00 108 55 33.74 PGAP1 0 genome.wustl.edu 37 2 197712755 197712755 + Missense_Mutation SNP C C A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 197712755 197712755 C A SNP PGAP1 ENST00000354764 human ensembl 74_37 -1 known missense c.1868 p.C623F 1.000 NULL pfam_PGAP1-like - no_errors PGAP1 HGNC ENSG00000197121 tier1 - - 73 0 0.00 45 12 21.05 PIK3R5 0 genome.wustl.edu 37 17 8793325 8793325 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 17 8793325 8793325 G A SNP PIK3R5 ENST00000447110 human ensembl 74_37 -1 known missense c.776 p.A259V 0.886 pfam_PI3K_1B_gamma_p101_su pfam_PI3K_1B_gamma_p101_su - no_errors PIK3R5 HGNC ENSG00000141506 tier1 - - 123 0 0.00 67 54 44.63 PLXNA2 0 genome.wustl.edu 37 1 208252769 208252769 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 1 208252769 208252769 G A SNP PLXNA2 ENST00000367033 human ensembl 74_37 -1 known missense c.2422 p.R808W 1.000 pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA2 HGNC ENSG00000076356 tier1 - - 30 0 0.00 11 7 38.89 PLXNA4 0 genome.wustl.edu 37 7 131908334 131908334 + Silent SNP A A G TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 7 131908334 131908334 A G SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known silent c.2049 p.H683 0.648 pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 52 0 0.00 20 4 16.67 PLXNB1 0 genome.wustl.edu 37 3 48452300 48452300 + Frame_Shift_Del DEL G G - TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 3 48452300 48452300 G - DEL PLXNB1 ENST00000296440 human ensembl 74_37 -1 known frame_shift_del c.5393 p.P1798fs 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB1 HGNC ENSG00000164050 tier1 38 0 0.00 13 2 13.33 PNPLA7 0 genome.wustl.edu 37 9 140361819 140361819 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 9 140361819 140361819 C T SNP PNPLA7 ENST00000406427 human ensembl 74_37 -1 known missense c.2989 p.E997K 0.999 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA7 HGNC ENSG00000130653 tier1 - - 95 0 0.00 48 8 14.29 PPIL2 0 genome.wustl.edu 37 22 22020391 22020391 + Frame_Shift_Del DEL G G - TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 22 22020391 22020391 G - DEL PPIL2 ENST00000412327 human ensembl 74_37 +1 known frame_shift_del c.3 p.K3fs 1.000 NULL pfam_Cyclophilin-like_PPIase_dom,pfam_Rtf2_RING-finger,superfamily_Cyclophilin-like_PPIase_dom,smart_Ubox_domain,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIL2 HGNC ENSG00000100023 tier1 50 0 0.00 26 2 7.14 PRKCQ 0 genome.wustl.edu 37 10 6472807 6472807 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 10 6472807 6472807 G A SNP PRKCQ ENST00000263125 human ensembl 74_37 -1 known missense c.1930 p.R644W 0.810 superfamily_Kinase-like_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKCQ HGNC ENSG00000065675 tier1 - - 108 0 0.00 52 12 18.75 PRKG1 0 genome.wustl.edu 37 10 54040664 54040664 + Silent SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 10 54040664 54040664 C T SNP PRKG1 ENST00000373980 human ensembl 74_37 +1 known silent c.1519 p.L507 1.000 pirsf_cGMP-dependent_protein_kinase,pfam_Prot_kinase_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_dom pirsf_cGMP-dependent_protein_kinase,pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom - no_errors PRKG1 HGNC ENSG00000185532 tier1 - - 128 0 0.00 92 18 16.36 PRODH 0 genome.wustl.edu 37 22 18907072 18907072 + Silent SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 22 18907072 18907072 G A SNP PRODH ENST00000357068 human ensembl 74_37 -1 known silent c.1143 p.A381 0.501 pfam_Proline_DH pfam_Proline_DH - no_errors PRODH HGNC ENSG00000100033 tier1 - - 36 0 0.00 22 8 26.67 PRRT3 0 genome.wustl.edu 37 3 9990795 9990795 + Silent SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 3 9990795 9990795 C T SNP PRRT3 ENST00000295984 human ensembl 74_37 -1 known silent c.1005 p.P335 0.001 NULL NULL - no_errors PRRT3 HGNC ENSG00000163704 tier1 - - 192 0 0.00 69 62 47.33 PSG9 0 genome.wustl.edu 37 19 43763168 43763168 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 19 43763168 43763168 C T SNP PSG9 ENST00000270077 human ensembl 74_37 -1 known missense c.829 p.G277S 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG9 HGNC ENSG00000183668 tier1 - - 460 0 0.00 277 129 31.77 PTPN21 0 genome.wustl.edu 37 14 88967137 88967137 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 14 88967137 88967137 C T SNP PTPN21 ENST00000328736 human ensembl 74_37 -1 known missense c.754 p.V252M 0.983 pfam_FERM_PH-like_C,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN21 HGNC ENSG00000070778 tier1 - - 111 0 0.00 76 14 15.56 PTPRO 0 genome.wustl.edu 37 12 15650271 15650271 + Missense_Mutation SNP A A G TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 12 15650271 15650271 A G SNP PTPRO ENST00000281171 human ensembl 74_37 +1 known missense c.442 p.N148D 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRO HGNC ENSG00000151490 tier1 - - 145 0 0.00 111 30 21.28 RBM18 0 genome.wustl.edu 37 9 125004304 125004304 + Frame_Shift_Del DEL T T - TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 9 125004304 125004304 T - DEL RBM18 ENST00000417201 human ensembl 74_37 -1 known frame_shift_del c.432 p.A145fs 0.998 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM18 HGNC ENSG00000119446 tier1 62 0 0.00 35 2 5.41 RGS18 0 genome.wustl.edu 37 1 192128414 192128414 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 1 192128414 192128414 C T SNP RGS18 ENST00000367460 human ensembl 74_37 +1 known missense c.184 p.R62C 0.000 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS18 HGNC ENSG00000150681 tier1 rs139204070 - 69 0 0.00 31 13 29.55 RNF144A 0 genome.wustl.edu 37 2 7160699 7160699 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 7160699 7160699 G A SNP RNF144A ENST00000320892 human ensembl 74_37 +1 known missense c.397 p.V133M 1.000 pfam_Znf_C6HC,smart_Znf_C6HC pfam_Znf_C6HC,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF144A HGNC ENSG00000151692 tier1 - - 148 0 0.00 123 10 7.52 RNF41 0 genome.wustl.edu 37 12 56607753 56607753 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 12 56607753 56607753 C T SNP RNF41 ENST00000345093 human ensembl 74_37 -1 known missense c.79 p.E27K 1.000 pfam_Znf_C3HC4_RING-type,pfam_Ubox_domain,smart_Znf_RING,pfscan_Znf_RING pfam_USP8_interacting,pfam_Znf_C3HC4_RING-type,pfam_Ubox_domain,superfamily_TRAF-like,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SIAH - no_errors RNF41 HGNC ENSG00000181852 tier1 - - 195 0 0.00 88 54 38.03 RPAP1 0 genome.wustl.edu 37 15 41816139 41816139 + Missense_Mutation SNP G G T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 15 41816139 41816139 G T SNP RPAP1 ENST00000304330 human ensembl 74_37 -1 known missense c.2266 p.P756T 0.069 NULL pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold - no_errors RPAP1 HGNC ENSG00000103932 tier1 - - 35 0 0.00 17 4 19.05 RPE65 0 genome.wustl.edu 37 1 68895557 68895557 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 1 68895557 68895557 G A SNP RPE65 ENST00000262340 human ensembl 74_37 -1 known missense c.1504 p.L502F 1.000 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors RPE65 HGNC ENSG00000116745 tier1 - - 83 0 0.00 63 10 13.70 RTN1 0 genome.wustl.edu 37 14 60072171 60072171 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 14 60072171 60072171 G A SNP RTN1 ENST00000267484 human ensembl 74_37 -1 known missense c.2027 p.T676M 1.000 pfam_Reticulon,pfscan_Reticulon pfam_Reticulon,pfscan_Reticulon - no_errors RTN1 HGNC ENSG00000139970 tier1 rs201164896 - 71 0 0.00 63 8 11.27 SAMD9 0 genome.wustl.edu 37 7 92731760 92731760 + Frame_Shift_Del DEL A A - TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 7 92731760 92731760 A - DEL SAMD9 ENST00000379958 human ensembl 74_37 -1 known frame_shift_del c.3651 p.F1217fs 0.850 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 tier1 99 0 0.00 84 12 12.50 SCAF4 0 genome.wustl.edu 37 21 33076196 33076196 + Nonsense_Mutation SNP G G C TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 21 33076196 33076196 G C SNP SCAF4 ENST00000286835 human ensembl 74_37 -1 known nonsense c.203 p.S68* 1.000 pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC ENSG00000156304 tier1 - - 107 0 0.00 41 21 33.33 SCN5A 0 genome.wustl.edu 37 3 38597190 38597190 + Missense_Mutation SNP T T G TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 3 38597190 38597190 T G SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.4499 p.K1500T 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 tier1 - - 114 0 0.00 33 34 50.75 SDK1 0 genome.wustl.edu 37 7 4107518 4107518 + Missense_Mutation SNP C C A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 7 4107518 4107518 C A SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.2960 p.S987Y 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 tier1 - - 27 0 0.00 41 7 14.58 SKI 0 genome.wustl.edu 37 1 2160478 2160478 + Silent SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 1 2160478 2160478 C T SNP SKI ENST00000378536 human ensembl 74_37 +1 known silent c.273 p.F91 1.000 pfam_Transform_Ski,superfamily_DNA-bd_dom_put pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put - no_errors SKI HGNC ENSG00000157933 tier1 - - 27 0 0.00 19 8 29.63 SLC38A7 0 genome.wustl.edu 37 16 58709932 58709934 + In_Frame_Del DEL GAA GAA - TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 16 58709932 58709934 GAA - DEL SLC38A7 ENST00000219320 human ensembl 74_37 -1 known in_frame_del c.795_793 p.F265in_frame_del 1.000:1.000:1.000 pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease - no_errors SLC38A7 HGNC ENSG00000103042 tier1 30 0 0.00 28 5 15.15 SLC6A15 0 genome.wustl.edu 37 12 85285644 85285644 + Nonsense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 12 85285644 85285644 G A SNP SLC6A15 ENST00000266682 human ensembl 74_37 -1 known nonsense c.256 p.R86* 0.993 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A15 HGNC ENSG00000072041 tier1 - - 122 0 0.00 20 37 64.91 SLCO5A1 0 genome.wustl.edu 37 8 70744273 70744273 + Silent SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 8 70744273 70744273 G A SNP SLCO5A1 ENST00000260126 human ensembl 74_37 -1 known silent c.636 p.F212 0.963 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO5A1 HGNC ENSG00000137571 tier1 - - 40 0 0.00 14 7 33.33 SLITRK1 0 genome.wustl.edu 37 13 84454576 84454576 + Missense_Mutation SNP T T G TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 13 84454576 84454576 T G SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known missense c.1067 p.K356T 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 tier1 - - 122 0 0.00 110 18 14.06 SLITRK5 0 genome.wustl.edu 37 13 88328837 88328837 + Silent SNP C C A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 13 88328837 88328837 C A SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known silent c.1194 p.I398 0.982 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 tier1 - - 73 0 0.00 64 13 16.88 SMARCA4 0 genome.wustl.edu 37 19 11144113 11144113 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 19 11144113 11144113 G A SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known missense c.3694 p.G1232S 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 tier1 - - 208 0 0.00 113 56 32.94 SNORA38 0 genome.wustl.edu 37 6 31590899 31590899 + RNA SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 6 31590899 31590899 G A SNP SNORA38 ENST00000363946 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORA38 HGNC ENSG00000200816 tier1 - - 240 0 0.00 136 17 11.11 SORL1 0 genome.wustl.edu 37 11 121448047 121448047 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 11 121448047 121448047 C T SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known missense c.3518 p.S1173F 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 tier1 - - 120 0 0.00 58 41 41.41 SOS1 0 genome.wustl.edu 37 2 39278343 39278343 + Missense_Mutation SNP A A T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 39278343 39278343 A T SNP SOS1 ENST00000402219 human ensembl 74_37 -1 known missense c.806 p.M269K 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS1 HGNC ENSG00000115904 tier1 - - 95 0 0.00 76 16 17.39 SSPO 0 genome.wustl.edu 37 7 149523267 149523267 + RNA SNP A A G TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 7 149523267 149523267 A G SNP SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 0.321 - - - no_errors SSPO HGNC ENSG00000197558 tier1 - - 103 0 0.00 39 23 37.10 ST18 0 genome.wustl.edu 37 8 53073985 53073985 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 8 53073985 53073985 C T SNP ST18 ENST00000276480 human ensembl 74_37 -1 known missense c.1544 p.R515H 0.999 pfam_Myelin_TF pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 tier1 - - 178 0 0.00 125 11 8.09 SYCP1 0 genome.wustl.edu 37 1 115537515 115537515 + Missense_Mutation SNP C C G TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 1 115537515 115537515 C G SNP SYCP1 ENST00000369518 human ensembl 74_37 +1 known missense c.2806 p.L936V 0.640 NULL pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 tier1 - - 113 0 0.00 76 20 20.83 TACR3 0 genome.wustl.edu 37 4 104577407 104577407 + Nonsense_Mutation SNP C C A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 4 104577407 104577407 C A SNP TACR3 ENST00000304883 human ensembl 74_37 -1 known nonsense c.832 p.E278* 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK3_rcpt,prints_Neurokn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK3_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK1_rcpt - no_errors TACR3 HGNC ENSG00000169836 tier1 - - 123 0 0.00 41 39 48.15 TENM2 0 genome.wustl.edu 37 5 167627103 167627103 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 5 167627103 167627103 G A SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known missense c.3397 p.G1133S 1.000 superfamily_ConA-like_lec_gl_sf pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 tier1 - - 36 0 0.00 10 12 54.55 TESK2 0 genome.wustl.edu 37 1 45810644 45810644 + Silent SNP G G T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 1 45810644 45810644 G T SNP TESK2 ENST00000372086 human ensembl 74_37 -1 known silent c.1584 p.P528 0.959 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TESK2 HGNC ENSG00000070759 tier1 - - 201 0 0.00 99 55 35.71 TESK2 0 genome.wustl.edu 37 1 45811150 45811150 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 1 45811150 45811150 G A SNP TESK2 ENST00000372086 human ensembl 74_37 -1 known missense c.1078 p.R360C 1.000 superfamily_Kinase-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TESK2 HGNC ENSG00000070759 tier1 - - 62 0 0.00 32 21 39.62 THSD7B 0 genome.wustl.edu 37 2 138169429 138169429 + Missense_Mutation SNP C C A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 138169429 138169429 C A SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known missense c.2946 p.F982L 0.991 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 tier1 - - 35 0 0.00 26 7 21.21 TNFSF15 0 genome.wustl.edu 37 9 117553091 117553091 + Missense_Mutation SNP T T G TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 9 117553091 117553091 T G SNP TNFSF15 ENST00000374045 human ensembl 74_37 -1 known missense c.397 p.N133H 1.000 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_TNF - no_errors TNFSF15 HGNC ENSG00000181634 tier1 - - 102 0 0.00 69 5 6.76 TNXB 0 genome.wustl.edu 37 6 32011597 32011597 + Missense_Mutation SNP C C G TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 6 32011597 32011597 C G SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.11453 p.R3818P 0.024 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 tier1 - - 272 0 0.00 156 10 6.02 TP53 0 genome.wustl.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 17 7577539 7577539 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.742 p.R248W 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs121912651 - 135 0 0.00 79 16 16.84 TRAK2 0 genome.wustl.edu 37 2 202259577 202259577 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 202259577 202259577 C T SNP TRAK2 ENST00000332624 human ensembl 74_37 -1 known missense c.919 p.E307K 1.000 pfam_HAP1_N pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK2 HGNC ENSG00000115993 tier1 - - 50 0 0.00 24 6 20.00 TRAK2 0 genome.wustl.edu 37 2 202260143 202260143 + Missense_Mutation SNP C C G TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 202260143 202260143 C G SNP TRAK2 ENST00000332624 human ensembl 74_37 -1 known missense c.794 p.R265T 0.834 pfam_HAP1_N pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK2 HGNC ENSG00000115993 tier1 - - 195 0 0.00 110 22 16.67 TRIM32 0 genome.wustl.edu 37 9 119461125 119461125 + Silent SNP A A T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 9 119461125 119461125 A T SNP TRIM32 ENST00000373983 human ensembl 74_37 +1 known silent c.1104 p.P368 0.937 pfscan_NHL_repeat_subgr pfam_NHL_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM32 HGNC ENSG00000119401 tier1 - - 148 0 0.00 72 10 12.20 TRIML2 0 genome.wustl.edu 37 4 189020199 189020199 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 4 189020199 189020199 G A SNP TRIML2 ENST00000512729 human ensembl 74_37 -1 known missense c.461 p.A154V 0.000 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors TRIML2 HGNC ENSG00000179046 tier1 - - 88 0 0.00 57 8 12.31 TRPA1 0 genome.wustl.edu 37 8 72984022 72984022 + Silent SNP G G T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 8 72984022 72984022 G T SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known silent c.192 p.T64 0.002 NULL pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 tier1 - - 41 0 0.00 28 11 28.21 TRPM4 0 genome.wustl.edu 37 19 49686058 49686058 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 19 49686058 49686058 C T SNP TRPM4 ENST00000252826 human ensembl 74_37 +1 known missense c.1487 p.A496V 0.000 NULL pfam_Ion_trans_dom - no_errors TRPM4 HGNC ENSG00000130529 tier1 - - 44 0 0.00 23 7 23.33 TTN 0 genome.wustl.edu 37 2 179401240 179401240 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 179401240 179401240 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.92530 p.A30844T 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 131 0 0.00 60 17 22.08 TTN 0 genome.wustl.edu 37 2 179485078 179485078 + Silent SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 179485078 179485078 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.38466 p.P12822 0.761 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 149 0 0.00 111 29 20.71 TTN 0 genome.wustl.edu 37 2 179656861 179656861 + Missense_Mutation SNP C C G TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 179656861 179656861 C G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.1600 p.E534Q 1.000 pfam_Titin_Z,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 50 0 0.00 30 4 11.76 UNC5C 0 genome.wustl.edu 37 4 96091390 96091390 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 4 96091390 96091390 G A SNP UNC5C ENST00000453304 human ensembl 74_37 -1 known missense c.2545 p.R849W 1.000 superfamily_DEATH-like_dom,smart_Death_domain pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5C HGNC ENSG00000182168 tier1 - - 398 0 0.00 214 32 13.01 VPS13C 0 genome.wustl.edu 37 15 62302673 62302673 + Missense_Mutation SNP G G C TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 15 62302673 62302673 G C SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known missense c.1009 p.Q337E 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 tier1 - - 148 0 0.00 77 23 23.00 ZBTB6 0 genome.wustl.edu 37 9 125673768 125673768 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 9 125673768 125673768 G A SNP ZBTB6 ENST00000373659 human ensembl 74_37 -1 known missense c.584 p.S195L 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB6 HGNC ENSG00000186130 tier1 - - 66 0 0.00 39 7 15.22 ZC3H12A 0 genome.wustl.edu 37 1 37948666 37948666 + Silent SNP A A G TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 1 37948666 37948666 A G SNP ZC3H12A ENST00000373087 human ensembl 74_37 +1 known silent c.1254 p.T418 0.000 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12A HGNC ENSG00000163874 tier1 - - 18 0 0.00 10 4 28.57 ZFP2 0 genome.wustl.edu 37 5 178359223 178359223 + Silent SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 5 178359223 178359223 C T SNP ZFP2 ENST00000361362 human ensembl 74_37 +1 known silent c.909 p.C303 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP2 HGNC ENSG00000198939 82 0 0.00 55 4 6.78 ZNF165 0 genome.wustl.edu 37 6 28056607 28056607 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 6 28056607 28056607 G A SNP ZNF165 ENST00000377325 human ensembl 74_37 +1 known missense c.817 p.D273N 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF165 HGNC ENSG00000197279 tier1 - - 62 0 0.00 27 14 34.15 ZNF180 0 genome.wustl.edu 37 19 44980912 44980912 + Nonsense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 19 44980912 44980912 G A SNP ZNF180 ENST00000221327 human ensembl 74_37 -1 known nonsense c.1786 p.Q596* 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF180 HGNC ENSG00000167384 tier1 - - 114 0 0.00 106 33 23.74 ZNF180 0 genome.wustl.edu 37 19 44980957 44980957 + Nonsense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 19 44980957 44980957 G A SNP ZNF180 ENST00000221327 human ensembl 74_37 -1 known nonsense c.1741 p.Q581* 0.170 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF180 HGNC ENSG00000167384 tier1 - - 108 0 0.00 101 23 18.55 ZNF384 0 genome.wustl.edu 37 12 6778309 6778309 + Missense_Mutation SNP T T C TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 12 6778309 6778309 T C SNP ZNF384 ENST00000361959 human ensembl 74_37 -1 known missense c.1220 p.N407S 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF384 HGNC ENSG00000126746 tier1 - - 59 0 0.00 75 7 8.33 ZNF423 0 genome.wustl.edu 37 16 49669727 49669727 + Silent SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 16 49669727 49669727 G A SNP ZNF423 ENST00000262383 human ensembl 74_37 -1 known silent c.3336 p.P1112 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 tier1 - - 98 0 0.00 13 5 27.78 ZNF558 0 genome.wustl.edu 37 19 8922235 8922235 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 19 8922235 8922235 C T SNP ZNF558 ENST00000301475 human ensembl 74_37 -1 known missense c.931 p.V311I 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF558 HGNC ENSG00000167785 tier1 - - 119 0 0.00 59 27 31.40 ZNF559 0 genome.wustl.edu 37 19 9452409 9452409 + Missense_Mutation SNP C C G TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 19 9452409 9452409 C G SNP ZNF559 ENST00000393883 human ensembl 74_37 +1 known missense c.282 p.N94K 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 ZNF559 HGNC ENSG00000188321 tier1 - - 100 0 0.00 59 22 27.16 ZNF648 0 genome.wustl.edu 37 1 182026796 182026796 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 1 182026796 182026796 G A SNP ZNF648 ENST00000339948 human ensembl 74_37 -1 novel missense c.350 p.P117L 0.008 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF648 HGNC ENSG00000179930 tier1 - - 130 0 0.00 95 7 6.86 ZNF92 0 genome.wustl.edu 37 7 64863705 64863705 + Silent SNP A A G TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 7 64863705 64863705 A G SNP ZNF92 ENST00000328747 human ensembl 74_37 +1 known silent c.678 p.E226 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF92 HGNC ENSG00000146757 49 0 0.00 26 2 7.14 ZRANB2 0 genome.wustl.edu 37 1 71536547 71536547 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 1 71536547 71536547 G A SNP ZRANB2 ENST00000370920 human ensembl 74_37 -1 known missense c.646 p.R216C 1.000 pirsf_UCP037956_Znf_RanB2 pfam_Znf_RanBP2,smart_Znf_RanBP2,pirsf_UCP037956_Znf_RanB2,pfscan_Znf_RanBP2 - no_errors ZRANB2 HGNC ENSG00000132485 tier1 - - 191 0 0.00 108 65 37.36 ZSCAN20 0 genome.wustl.edu 37 1 33956750 33956750 + Nonsense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 1 33956750 33956750 C T SNP ZSCAN20 ENST00000361328 human ensembl 74_37 +1 known nonsense c.892 p.Q298* 0.319 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN20 HGNC ENSG00000121903 tier1 - - 113 0 0.00 66 19 22.35 ZSWIM3 0 genome.wustl.edu 37 20 44506132 44506132 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 20 44506132 44506132 G A SNP ZSWIM3 ENST00000255152 human ensembl 74_37 +1 known missense c.935 p.R312Q 0.996 pfam_MULE_transposase_dom,pfam_Transposase pfam_Znf_SWIM,pfam_MULE_transposase_dom,pfam_Transposase,smart_Znf_PMZ,pfscan_Znf_SWIM - no_errors ZSWIM3 HGNC ENSG00000132801 tier1 - - 126 0 0.00 104 8 7.08 COL11A1 0 genome.wustl.edu 37 1 103352579 103352579 + Missense_Mutation SNP T T A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 1 103352579 103352579 T A SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.4678 p.I1560F 0.999 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 140 0 0 54 19 26.0274 KCNA3 0 genome.wustl.edu 37 1 111216188 111216188 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 1 111216188 111216188 G A SNP KCNA3 ENST00000369769 human ensembl 74_37 -1 known missense c.1244 p.A415V 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA3 HGNC ENSG00000177272 62 0 0 37 11 22.9167 SYCP1 0 genome.wustl.edu 37 1 115537515 115537515 + Missense_Mutation SNP C C G TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 1 115537515 115537515 C G SNP SYCP1 ENST00000369518 human ensembl 74_37 +1 known missense c.2806 p.L936V 0.640 NULL pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 97 0 0 59 16 21.3333 DNAJC16 0 genome.wustl.edu 37 1 15886050 15886050 + Silent SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 1 15886050 15886050 C T SNP DNAJC16 ENST00000375847 human ensembl 74_37 +1 known silent c.1053 p.D351 0.104 NULL pfam_DnaJ_domain,pfam_Thioredoxin_domain,superfamily_DnaJ_domain,superfamily_Thioredoxin-like_fold,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC16 HGNC ENSG00000116138 185 0 0 151 13 7.92683 ZNF648 0 genome.wustl.edu 37 1 182026796 182026796 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 1 182026796 182026796 G A SNP ZNF648 ENST00000339948 human ensembl 74_37 -1 novel missense c.350 p.P117L 0.008 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF648 HGNC ENSG00000179930 121 0 0 86 7 7.52688 RGS18 0 genome.wustl.edu 37 1 192128414 192128414 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 1 192128414 192128414 C T SNP RGS18 ENST00000367460 human ensembl 74_37 +1 known missense c.184 p.R62C 0.000 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS18 HGNC ENSG00000150681 55 0 0 26 12 31.5789 KCNT2 0 genome.wustl.edu 37 1 196254881 196254881 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 1 196254881 196254881 C T SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known missense c.2603 p.R868Q 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 28 0 0 16 11 40.7407 KIF21B 0 genome.wustl.edu 37 1 200968548 200968548 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 1 200968548 200968548 C T SNP KIF21B ENST00000422435 human ensembl 74_37 -1 known missense c.1814 p.R605H 0.105 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 131 0 0 106 10 8.62069 PLXNA2 0 genome.wustl.edu 37 1 208252769 208252769 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 1 208252769 208252769 G A SNP PLXNA2 ENST00000367033 human ensembl 74_37 -1 known missense c.2422 p.R808W 1.000 pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA2 HGNC ENSG00000076356 27 0 0 9 6 40 SKI 0 genome.wustl.edu 37 1 2160478 2160478 + Silent SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 1 2160478 2160478 C T SNP SKI ENST00000378536 human ensembl 74_37 +1 known silent c.273 p.F91 1.000 pfam_Transform_Ski,superfamily_DNA-bd_dom_put pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put - no_errors SKI HGNC ENSG00000157933 24 0 0 18 7 28 OR14I1 0 genome.wustl.edu 37 1 248845077 248845077 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 1 248845077 248845077 G A SNP OR14I1 ENST00000342623 human ensembl 74_37 -1 known missense c.529 p.R177C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt - no_errors OR14I1 HGNC ENSG00000189181 53 0 0 45 3 6.25 ACTRT2 0 genome.wustl.edu 37 1 2938312 2938312 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 1 2938312 2938312 G A SNP ACTRT2 ENST00000378404 human ensembl 74_37 +1 known missense c.62 p.C21Y 0.998 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTRT2 HGNC ENSG00000169717 70 0 0 33 14 29.7872 ZSCAN20 0 genome.wustl.edu 37 1 33956750 33956750 + Nonsense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 1 33956750 33956750 C T SNP ZSCAN20 ENST00000361328 human ensembl 74_37 +1 known nonsense c.892 p.Q298* 0.319 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN20 HGNC ENSG00000121903 105 0 0 61 16 20.7792 TESK2 0 genome.wustl.edu 37 1 45810644 45810644 + Silent SNP G G T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 1 45810644 45810644 G T SNP TESK2 ENST00000372086 human ensembl 74_37 -1 known silent c.1584 p.P528 0.959 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TESK2 HGNC ENSG00000070759 184 0 0 93 50 34.965 TESK2 0 genome.wustl.edu 37 1 45811150 45811150 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 1 45811150 45811150 G A SNP TESK2 ENST00000372086 human ensembl 74_37 -1 known missense c.1078 p.R360C 1.000 superfamily_Kinase-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TESK2 HGNC ENSG00000070759 61 0 0 31 20 39.2157 RPE65 0 genome.wustl.edu 37 1 68895557 68895557 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 1 68895557 68895557 G A SNP RPE65 ENST00000262340 human ensembl 74_37 -1 known missense c.1504 p.L502F 1.000 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors RPE65 HGNC ENSG00000116745 76 0 0 54 8 12.9032 ZRANB2 0 genome.wustl.edu 37 1 71536547 71536547 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 1 71536547 71536547 G A SNP ZRANB2 ENST00000370920 human ensembl 74_37 -1 known missense c.646 p.R216C 1.000 pirsf_UCP037956_Znf_RanB2 pfam_Znf_RanBP2,smart_Znf_RanBP2,pirsf_UCP037956_Znf_RanB2,pfscan_Znf_RanBP2 - no_errors ZRANB2 HGNC ENSG00000132485 159 0 0 87 54 38.2979 ABLIM1 0 genome.wustl.edu 37 10 116245127 116245127 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 10 116245127 116245127 G A SNP ABLIM1 ENST00000369266 human ensembl 74_37 -1 known missense c.106 p.R36W 0.021 NULL pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece - no_errors ABLIM1 HGNC ENSG00000099204 33 0 0 22 3 12 MYO3A 0 genome.wustl.edu 37 10 26462699 26462699 + Missense_Mutation SNP T T C TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 10 26462699 26462699 T C SNP MYO3A ENST00000265944 human ensembl 74_37 +1 known missense c.3506 p.F1169S 0.001 superfamily_P-loop_NTPase pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,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_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 52 0 0 37 3 7.5 AKR1C1 0 genome.wustl.edu 37 10 5008192 5008192 + Silent SNP T T C TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 10 5008192 5008192 T C SNP AKR1C1 ENST00000380872 human ensembl 74_37 +1 known silent c.171 p.N57 0.993 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1C1 HGNC ENSG00000187134 95 0 0 53 6 10.1695 PRKG1 0 genome.wustl.edu 37 10 54040664 54040664 + Silent SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 10 54040664 54040664 C T SNP PRKG1 ENST00000373980 human ensembl 74_37 +1 known silent c.1519 p.L507 1.000 pirsf_cGMP-dependent_protein_kinase,pfam_Prot_kinase_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_dom pirsf_cGMP-dependent_protein_kinase,pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom - no_errors PRKG1 HGNC ENSG00000185532 104 0 0 81 14 14.7368 CCDC6 0 genome.wustl.edu 37 10 61552820 61552820 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 10 61552820 61552820 G A SNP CCDC6 ENST00000263102 human ensembl 74_37 -1 known missense c.1280 p.T427M 1.000 NULL pfam_DUF2046 - no_errors CCDC6 HGNC ENSG00000108091 71 0 0 28 25 47.1698 PRKCQ 0 genome.wustl.edu 37 10 6472807 6472807 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 10 6472807 6472807 G A SNP PRKCQ ENST00000263125 human ensembl 74_37 -1 known missense c.1930 p.R644W 0.810 superfamily_Kinase-like_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKCQ HGNC ENSG00000065675 103 0 0 49 11 18.3333 SORL1 0 genome.wustl.edu 37 11 121448047 121448047 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 11 121448047 121448047 C T SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known missense c.3518 p.S1173F 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 107 0 0 53 37 41.1111 HSPA8 0 genome.wustl.edu 37 11 122929368 122929368 + Missense_Mutation SNP C C G TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 11 122929368 122929368 C G SNP HSPA8 ENST00000534624 human ensembl 74_37 -1 known missense c.1494 p.E498D 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA8 HGNC ENSG00000109971 103 0 0 56 29 34.1176 OR6T1 0 genome.wustl.edu 37 11 123813782 123813782 + Missense_Mutation SNP G G T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 11 123813782 123813782 G T SNP OR6T1 ENST00000321252 human ensembl 74_37 -1 known missense c.764 p.S255Y 0.962 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6T1 HGNC ENSG00000181499 144 0 0 75 23 23.4694 OR8J3 0 genome.wustl.edu 37 11 55904620 55904620 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 11 55904620 55904620 G A SNP OR8J3 ENST00000301529 human ensembl 74_37 -1 known missense c.575 p.T192I 0.962 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8J3 HGNC ENSG00000167822 68 0 0 72 11 13.253 OR52E8 0 genome.wustl.edu 37 11 5878172 5878172 + Nonsense_Mutation SNP A A C TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 11 5878172 5878172 A C SNP OR52E8 ENST00000537935 human ensembl 74_37 -1 known nonsense c.761 p.L254* 0.979 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52E8 HGNC ENSG00000183269 105 0 0 71 4 5.33333 VPS51 0 genome.wustl.edu 37 11 64863869 64863869 + Silent SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 11 64863869 64863869 G A SNP VPS51 ENST00000279281 human ensembl 74_37 +1 known silent c.147 p.A49 0.957 NULL pfam_COG8,pfam_Vacuolar_sorting-assoc_54,pfam_COG_su2_N,pfam_RZZ-complex_Zw10,superfamily_Cullin_repeat-like_dom - no_errors VPS51 HGNC ENSG00000149823 9 0 0 4 3 42.8571 LRP5 0 genome.wustl.edu 37 11 68193553 68193553 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 11 68193553 68193553 C T SNP LRP5 ENST00000294304 human ensembl 74_37 +1 known missense c.3535 p.R1179C 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6,smart_LDLR_classB_rpt pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 159 0 0 110 21 16.0305 ME3 0 genome.wustl.edu 37 11 86158190 86158190 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 11 86158190 86158190 G A SNP ME3 ENST00000359636 human ensembl 74_37 -1 known missense c.1297 p.H433Y 1.000 pfam_Malic_NAD-bd,smart_Malic_NAD-bd,prints_Malic_OxRdtase pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME3 HGNC ENSG00000151376 93 0 0 47 10 17.5439 PTPRO 0 genome.wustl.edu 37 12 15650271 15650271 + Missense_Mutation SNP A A G TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 12 15650271 15650271 A G SNP PTPRO ENST00000281171 human ensembl 74_37 +1 known missense c.442 p.N148D 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRO HGNC ENSG00000151490 138 0 0 107 27 20.1493 NTF3 0 genome.wustl.edu 37 12 5604101 5604101 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 12 5604101 5604101 C T SNP NTF3 ENST00000423158 human ensembl 74_37 +1 known missense c.760 p.R254W 1.000 pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pirsf_Nerve_growth_factor-like,pfscan_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pirsf_Nerve_growth_factor-like,pfscan_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,prints_Neurotrophin-3 - no_errors NTF3 HGNC ENSG00000185652 40 0 0 35 5 12.5 RNF41 0 genome.wustl.edu 37 12 56607753 56607753 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 12 56607753 56607753 C T SNP RNF41 ENST00000345093 human ensembl 74_37 -1 known missense c.79 p.E27K 1.000 pfam_Znf_C3HC4_RING-type,pfam_Ubox_domain,smart_Znf_RING,pfscan_Znf_RING pfam_USP8_interacting,pfam_Znf_C3HC4_RING-type,pfam_Ubox_domain,superfamily_TRAF-like,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SIAH - no_errors RNF41 HGNC ENSG00000181852 165 0 0 77 46 37.3984 ZNF384 0 genome.wustl.edu 37 12 6778309 6778309 + Missense_Mutation SNP T T C TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 12 6778309 6778309 T C SNP ZNF384 ENST00000361959 human ensembl 74_37 -1 known missense c.1220 p.N407S 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF384 HGNC ENSG00000126746 56 0 0 65 7 9.72222 CLSTN3 0 genome.wustl.edu 37 12 7287991 7287991 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 12 7287991 7287991 G A SNP CLSTN3 ENST00000266546 human ensembl 74_37 +1 known missense c.452 p.R151H 0.906 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN3 HGNC ENSG00000139182 105 0 0 67 30 30.9278 SLC6A15 0 genome.wustl.edu 37 12 85285644 85285644 + Nonsense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 12 85285644 85285644 G A SNP SLC6A15 ENST00000266682 human ensembl 74_37 -1 known nonsense c.256 p.R86* 0.993 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A15 HGNC ENSG00000072041 104 0 0 20 32 61.5385 DUSP6 0 genome.wustl.edu 37 12 89744622 89744622 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 12 89744622 89744622 G A SNP DUSP6 ENST00000279488 human ensembl 74_37 -1 known missense c.581 p.S194L 0.997 pirsf_MKP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP6 HGNC ENSG00000139318 106 0 0 75 23 23.4694 IKBIP 0 genome.wustl.edu 37 12 99007735 99007735 + Silent SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 12 99007735 99007735 C T SNP IKBIP ENST00000342502 human ensembl 74_37 -1 known silent c.681 p.T227 0.025 NULL NULL - no_errors IKBIP HGNC ENSG00000166130 68 0 0 15 19 55.8824 BRCA2 0 genome.wustl.edu 37 13 32911836 32911836 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 13 32911836 32911836 C T SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known missense c.3344 p.S1115F 1.000 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 78 0 0 65 28 30.1075 NBEA 0 genome.wustl.edu 37 13 35770201 35770201 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 13 35770201 35770201 G A SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.5128 p.E1710K 0.999 NULL 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 ENSG00000172915 63 0 0 54 14 20.5882 SLITRK1 0 genome.wustl.edu 37 13 84454576 84454576 + Missense_Mutation SNP T T G TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 13 84454576 84454576 T G SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known missense c.1067 p.K356T 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 116 0 0 105 17 13.9344 SLITRK5 0 genome.wustl.edu 37 13 88328837 88328837 + Silent SNP C C A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 13 88328837 88328837 C A SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known silent c.1194 p.I398 0.982 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 70 0 0 57 12 17.3913 PACS2 0 genome.wustl.edu 37 14 105849775 105849775 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 14 105849775 105849775 C T SNP PACS2 ENST00000458164 human ensembl 74_37 +1 known missense c.1705 p.R569W 0.995 pfam_Phosphofurin_acidic_CS-1 pfam_Phosphofurin_acidic_CS-1 - no_errors PACS2 HGNC ENSG00000179364 90 0 0 33 21 38.8889 LRRC16B 0 genome.wustl.edu 37 14 24535653 24535653 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 14 24535653 24535653 G A SNP LRRC16B ENST00000342740 human ensembl 74_37 +1 known missense c.3572 p.R1191Q 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC ENSG00000186648 233 0 0 122 38 23.75 RTN1 0 genome.wustl.edu 37 14 60072171 60072171 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 14 60072171 60072171 G A SNP RTN1 ENST00000267484 human ensembl 74_37 -1 known missense c.2027 p.T676M 1.000 pfam_Reticulon,pfscan_Reticulon pfam_Reticulon,pfscan_Reticulon - no_errors RTN1 HGNC ENSG00000139970 67 0 0 61 8 11.5942 FLRT2 0 genome.wustl.edu 37 14 86088495 86088495 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 14 86088495 86088495 G A SNP FLRT2 ENST00000330753 human ensembl 74_37 +1 known missense c.637 p.G213R 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 123 0 0 71 37 34.2593 PTPN21 0 genome.wustl.edu 37 14 88967137 88967137 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 14 88967137 88967137 C T SNP PTPN21 ENST00000328736 human ensembl 74_37 -1 known missense c.754 p.V252M 0.983 pfam_FERM_PH-like_C,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN21 HGNC ENSG00000070778 104 0 0 66 10 13.1579 EXD1 0 genome.wustl.edu 37 15 41476611 41476611 + Missense_Mutation SNP A A T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 15 41476611 41476611 A T SNP EXD1 ENST00000314992 human ensembl 74_37 -1 known missense c.1063 p.L355I 0.000 NULL pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD1 HGNC ENSG00000178997 168 0 0 129 14 9.79021 NARG2 0 genome.wustl.edu 37 15 60734733 60734733 + Silent SNP A A C TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 15 60734733 60734733 A C SNP NARG2 ENST00000261520 human ensembl 74_37 -1 known silent c.2307 p.V769 0.255 pfam_NARG2_C pfam_NARG2_C - no_errors NARG2 HGNC ENSG00000128915 87 0 0 47 4 7.84314 VPS13C 0 genome.wustl.edu 37 15 62302673 62302673 + Missense_Mutation SNP G G C TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 15 62302673 62302673 G C SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known missense c.1009 p.Q337E 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 129 0 0 65 19 22.619 MAP2K1 0 genome.wustl.edu 37 15 66774194 66774194 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 15 66774194 66774194 G A SNP MAP2K1 ENST00000307102 human ensembl 74_37 +1 known missense c.670 p.V224M 1.000 pfam_Prot_kinase_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_dom pfam_Prot_kinase_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_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP2K1 HGNC ENSG00000169032 63 0 0 45 4 8.16327 NEO1 0 genome.wustl.edu 37 15 73562536 73562536 + Nonsense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 15 73562536 73562536 C T SNP NEO1 ENST00000261908 human ensembl 74_37 +1 known nonsense c.2680 p.R894* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NEO1 HGNC ENSG00000067141 90 0 0 50 7 12.2807 ENSG00000187812 0 genome.wustl.edu 37 15 76073330 76073330 + RNA SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 15 76073330 76073330 G A SNP ENSG00000187812 ENST00000395215 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors RP11-24M17.5 Clone_based_vega_gene ENSG00000187812 106 0 0 59 7 10.6061 KIAA1024 0 genome.wustl.edu 37 15 79750690 79750690 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 15 79750690 79750690 G A SNP KIAA1024 ENST00000305428 human ensembl 74_37 +1 known missense c.2201 p.R734H 1.000 NULL pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 94 0 0 58 13 18.3099 GP2 0 genome.wustl.edu 37 16 20328576 20328576 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 16 20328576 20328576 C T SNP GP2 ENST00000381362 human ensembl 74_37 -1 known missense c.1384 p.E462K 1.000 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors GP2 HGNC ENSG00000169347 67 0 0 42 17 28.8136 CDH8 0 genome.wustl.edu 37 16 61851406 61851406 + Silent SNP A A G TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 16 61851406 61851406 A G SNP CDH8 ENST00000577390 human ensembl 74_37 -1 known silent c.1254 p.P418 0.970 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 CDH8 HGNC ENSG00000150394 72 0 0 48 8 14.2857 MON1B 0 genome.wustl.edu 37 16 77227645 77227645 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 16 77227645 77227645 C T SNP MON1B ENST00000248248 human ensembl 74_37 +1 known missense c.446 p.A149V 1.000 pfam_Vacuolar_fusion_protein_MON1 pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1 - no_errors MON1B HGNC ENSG00000103111 79 0 0 44 19 30.1587 KCNG4 0 genome.wustl.edu 37 16 84256130 84256130 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 16 84256130 84256130 G A SNP KCNG4 ENST00000308251 human ensembl 74_37 -1 known missense c.1253 p.T418M 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG4 HGNC ENSG00000168418 72 0 0 63 4 5.97015 CA5A 0 genome.wustl.edu 37 16 87960481 87960481 + Missense_Mutation SNP C C A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 16 87960481 87960481 C A SNP CA5A ENST00000309893 human ensembl 74_37 -1 known missense c.213 p.W71C 0.317 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA5A HGNC ENSG00000174990 24 0 0 11 8 42.1053 HS3ST3B1 0 genome.wustl.edu 37 17 14248369 14248369 + Silent SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 17 14248369 14248369 C T SNP HS3ST3B1 ENST00000360954 human ensembl 74_37 +1 known silent c.579 p.D193 0.071 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST3B1 HGNC ENSG00000125430 66 0 0 34 9 20.9302 TP53 0 genome.wustl.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 17 7577539 7577539 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.742 p.R248W 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 113 0 0 68 14 17.0732 OGFOD3 0 genome.wustl.edu 37 17 80352405 80352405 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 17 80352405 80352405 G A SNP OGFOD3 ENST00000329197 human ensembl 74_37 -1 known missense c.838 p.R280W 0.001 smart_Pro_4_hyd_alph smart_Pro_4_hyd_alph - no_errors OGFOD3 HGNC ENSG00000181396 87 0 0 49 15 23.4375 PIK3R5 0 genome.wustl.edu 37 17 8793325 8793325 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 17 8793325 8793325 G A SNP PIK3R5 ENST00000447110 human ensembl 74_37 -1 known missense c.776 p.A259V 0.886 pfam_PI3K_1B_gamma_p101_su pfam_PI3K_1B_gamma_p101_su - no_errors PIK3R5 HGNC ENSG00000141506 105 0 0 58 49 45.7944 CEP192 0 genome.wustl.edu 37 18 13068139 13068139 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 18 13068139 13068139 G A SNP CEP192 ENST00000506447 human ensembl 74_37 +1 known missense c.4661 p.R1554Q 0.000 NULL NULL - no_errors CEP192 HGNC ENSG00000101639 113 1 0.877193 127 13 9.28571 METTL4 0 genome.wustl.edu 37 18 2566839 2566839 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 18 2566839 2566839 G A SNP METTL4 ENST00000574538 human ensembl 74_37 -1 known missense c.377 p.S126F 0.008 NULL pfam_MT-A70-like,pfscan_MT-A70-like - no_errors METTL4 HGNC ENSG00000101574 31 0 0 38 8 17.3913 FHOD3 0 genome.wustl.edu 37 18 34340742 34340742 + Nonsense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 18 34340742 34340742 C T SNP FHOD3 ENST00000257209 human ensembl 74_37 +1 known nonsense c.4072 p.R1358* 1.000 NULL pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD3 HGNC ENSG00000134775 54 0 0 1 7 87.5 DLGAP1 0 genome.wustl.edu 37 18 3534261 3534261 + Nonsense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 18 3534261 3534261 G A SNP DLGAP1 ENST00000315677 human ensembl 74_37 -1 known nonsense c.2410 p.R804* 0.999 pfam_GKAP pfam_GKAP - no_errors DLGAP1 HGNC ENSG00000170579 105 0 0 105 15 12.5 EPB41L3 0 genome.wustl.edu 37 18 5416299 5416299 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 18 5416299 5416299 G A SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.1585 p.R529C 1.000 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 111 0 0 104 21 16.8 ATP9B 0 genome.wustl.edu 37 18 77107820 77107820 + Silent SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 18 77107820 77107820 G A SNP ATP9B ENST00000426216 human ensembl 74_37 +1 known silent c.2733 p.R911 0.927 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9B HGNC ENSG00000166377 112 0 0 51 3 5.55556 HMHA1 0 genome.wustl.edu 37 19 1073509 1073509 + Silent SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 19 1073509 1073509 C T SNP HMHA1 ENST00000313093 human ensembl 74_37 +1 known silent c.570 p.F190 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors HMHA1 HGNC ENSG00000180448 45 0 0 34 11 24.4444 SMARCA4 0 genome.wustl.edu 37 19 11144113 11144113 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 19 11144113 11144113 G A SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known missense c.3694 p.G1232S 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 179 0 0 98 41 29.4964 DIRAS1 0 genome.wustl.edu 37 19 2717373 2717373 + Silent SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 19 2717373 2717373 G A SNP DIRAS1 ENST00000323469 human ensembl 74_37 -1 known silent c.432 p.C144 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors DIRAS1 HGNC ENSG00000176490 154 0 0 74 31 29.5238 PSG9 0 genome.wustl.edu 37 19 43763168 43763168 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 19 43763168 43763168 C T SNP PSG9 ENST00000270077 human ensembl 74_37 -1 known missense c.829 p.G277S 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG9 HGNC ENSG00000183668 416 0 0 254 109 30.0275 ZNF180 0 genome.wustl.edu 37 19 44980912 44980912 + Nonsense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 19 44980912 44980912 G A SNP ZNF180 ENST00000221327 human ensembl 74_37 -1 known nonsense c.1786 p.Q596* 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF180 HGNC ENSG00000167384 100 0 0 97 27 21.7742 ZNF180 0 genome.wustl.edu 37 19 44980957 44980957 + Nonsense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 19 44980957 44980957 G A SNP ZNF180 ENST00000221327 human ensembl 74_37 -1 known nonsense c.1741 p.Q581* 0.170 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF180 HGNC ENSG00000167384 103 0 0 97 23 19.1667 CBLC 0 genome.wustl.edu 37 19 45293274 45293274 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 19 45293274 45293274 G A SNP CBLC ENST00000270279 human ensembl 74_37 +1 known missense c.931 p.D311N 0.999 pfam_Adaptor_Cbl_SH2-like pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Adaptor_Cbl_N_hlx,pfam_Znf_C3HC4_RING-type,superfamily_Adaptor_Cbl_N_hlx,smart_Znf_RING,pfscan_Znf_RING - no_errors CBLC HGNC ENSG00000142273 236 0 0 139 70 33.4928 FOSB 0 genome.wustl.edu 37 19 45974160 45974160 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 19 45974160 45974160 C T SNP FOSB ENST00000353609 human ensembl 74_37 +1 known missense c.400 p.P134S 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOSB HGNC ENSG00000125740 109 0 0 50 6 10.7143 TRPM4 0 genome.wustl.edu 37 19 49686058 49686058 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 19 49686058 49686058 C T SNP TRPM4 ENST00000252826 human ensembl 74_37 +1 known missense c.1487 p.A496V 0.000 NULL pfam_Ion_trans_dom - no_errors TRPM4 HGNC ENSG00000130529 43 0 0 19 7 26.9231 MYADM 0 genome.wustl.edu 37 19 54377192 54377192 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 19 54377192 54377192 G A SNP MYADM ENST00000336967 human ensembl 74_37 +1 known missense c.409 p.A137T 1.000 pfam_Marvel pfam_Marvel - no_errors MYADM HGNC ENSG00000179820 181 0 0 70 35 33.3333 MISP 0 genome.wustl.edu 37 19 757997 757997 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 19 757997 757997 G A SNP MISP ENST00000215582 human ensembl 74_37 +1 known missense c.1051 p.V351M 0.975 NULL NULL - no_errors MISP HGNC ENSG00000099812 40 0 0 7 6 46.1538 ZNF558 0 genome.wustl.edu 37 19 8922235 8922235 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 19 8922235 8922235 C T SNP ZNF558 ENST00000301475 human ensembl 74_37 -1 known missense c.931 p.V311I 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF558 HGNC ENSG00000167785 110 0 0 55 23 29.4872 ZNF559 0 genome.wustl.edu 37 19 9452409 9452409 + Missense_Mutation SNP C C G TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 19 9452409 9452409 C G SNP ZNF559 ENST00000393883 human ensembl 74_37 +1 known missense c.282 p.N94K 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 ZNF559 HGNC ENSG00000188321 88 0 0 49 20 28.9855 CNTNAP5 0 genome.wustl.edu 37 2 125261960 125261960 + Missense_Mutation SNP C C G TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 125261960 125261960 C G SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.1151 p.P384R 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 109 0 0 67 28 29.4737 THSD7B 0 genome.wustl.edu 37 2 138169429 138169429 + Missense_Mutation SNP C C A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 138169429 138169429 C A SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known missense c.2946 p.F982L 0.991 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 34 0 0 24 6 20 NEB 0 genome.wustl.edu 37 2 152554109 152554109 + Silent SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 152554109 152554109 G A SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.1206 p.C402 0.873 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 71 0 0 43 13 23.2143 TTN 0 genome.wustl.edu 37 2 179401240 179401240 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 179401240 179401240 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.92530 p.A30844T 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 104 0 0 50 16 24.2424 TTN 0 genome.wustl.edu 37 2 179485078 179485078 + Silent SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 179485078 179485078 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.38466 p.P12822 0.761 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 129 0 0 97 25 20.4918 TTN 0 genome.wustl.edu 37 2 179656861 179656861 + Missense_Mutation SNP C C G TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 179656861 179656861 C G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.1600 p.E534Q 1.000 pfam_Titin_Z,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 46 0 0 27 4 12.9032 PGAP1 0 genome.wustl.edu 37 2 197712755 197712755 + Missense_Mutation SNP C C A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 197712755 197712755 C A SNP PGAP1 ENST00000354764 human ensembl 74_37 -1 known missense c.1868 p.C623F 1.000 NULL pfam_PGAP1-like - no_errors PGAP1 HGNC ENSG00000197121 63 0 0 38 11 22.449 BOLL 0 genome.wustl.edu 37 2 198641828 198641828 + Silent SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 198641828 198641828 G A SNP BOLL ENST00000321801 human ensembl 74_37 -1 known silent c.267 p.F89 0.171 pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom - no_errors BOLL HGNC ENSG00000152430 50 0 0 38 4 9.52381 TRAK2 0 genome.wustl.edu 37 2 202259577 202259577 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 202259577 202259577 C T SNP TRAK2 ENST00000332624 human ensembl 74_37 -1 known missense c.919 p.E307K 1.000 pfam_HAP1_N pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK2 HGNC ENSG00000115993 43 0 0 20 5 20 TRAK2 0 genome.wustl.edu 37 2 202260143 202260143 + Missense_Mutation SNP C C G TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 202260143 202260143 C G SNP TRAK2 ENST00000332624 human ensembl 74_37 -1 known missense c.794 p.R265T 0.834 pfam_HAP1_N pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK2 HGNC ENSG00000115993 168 0 0 98 20 16.9492 PAX3 0 genome.wustl.edu 37 2 223065899 223065899 + Missense_Mutation SNP C C A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 223065899 223065899 C A SNP PAX3 ENST00000392069 human ensembl 74_37 -1 known missense c.1512 p.E504D 0.091 NULL pfam_Paired_dom,pfam_Pax7,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX3 HGNC ENSG00000135903 52 0 0 30 5 14.2857 CAB39 0 genome.wustl.edu 37 2 231624768 231624768 + Missense_Mutation SNP A A T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 231624768 231624768 A T SNP CAB39 ENST00000258418 human ensembl 74_37 +1 known missense c.52 p.N18Y 1.000 pfam_Mo25,superfamily_ARM-type_fold pfam_Mo25,superfamily_ARM-type_fold - no_errors CAB39 HGNC ENSG00000135932 127 0 0 83 6 6.74157 CAB39 0 genome.wustl.edu 37 2 231624774 231624774 + Nonsense_Mutation SNP A A T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 231624774 231624774 A T SNP CAB39 ENST00000258418 human ensembl 74_37 +1 known nonsense c.58 p.K20* 1.000 pfam_Mo25,superfamily_ARM-type_fold pfam_Mo25,superfamily_ARM-type_fold - no_errors CAB39 HGNC ENSG00000135932 121 0 0 82 5 5.74713 GPR55 0 genome.wustl.edu 37 2 231775046 231775046 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 231775046 231775046 C T SNP GPR55 ENST00000392039 human ensembl 74_37 -1 known missense c.632 p.R211H 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR55 HGNC ENSG00000135898 115 0 0 67 7 9.45946 ECEL1 0 genome.wustl.edu 37 2 233348908 233348908 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 233348908 233348908 G A SNP ECEL1 ENST00000304546 human ensembl 74_37 -1 known missense c.1210 p.R404C 1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECEL1 HGNC ENSG00000171551 50 0 0 31 6 16.2162 ASB18 0 genome.wustl.edu 37 2 237123062 237123062 + Silent SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 237123062 237123062 C T SNP ASB18 ENST00000409749 human ensembl 74_37 -1 known silent c.1044 p.T348 0.894 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB18 HGNC ENSG00000182177 12 0 0 0 2 100 ITSN2 0 genome.wustl.edu 37 2 24443845 24443845 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 24443845 24443845 C T SNP ITSN2 ENST00000355123 human ensembl 74_37 -1 known missense c.3668 p.R1223Q 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC ENSG00000198399 206 1 0.483092 146 10 6.41026 IFT172 0 genome.wustl.edu 37 2 27677454 27677454 + Missense_Mutation SNP C C A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 27677454 27677454 C A SNP IFT172 ENST00000260570 human ensembl 74_37 -1 known missense c.3445 p.A1149S 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 83 0 0 56 13 18.8406 SOS1 0 genome.wustl.edu 37 2 39278343 39278343 + Missense_Mutation SNP A A T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 39278343 39278343 A T SNP SOS1 ENST00000402219 human ensembl 74_37 -1 known missense c.806 p.M269K 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS1 HGNC ENSG00000115904 90 0 0 68 16 19.0476 DYSF 0 genome.wustl.edu 37 2 71894611 71894611 + Missense_Mutation SNP C C A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 71894611 71894611 C A SNP DYSF ENST00000413539 human ensembl 74_37 +1 known missense c.5399 p.P1800H 0.998 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 90 0 0 72 6 7.69231 CTNNA2 0 genome.wustl.edu 37 2 80831299 80831299 + Missense_Mutation SNP G G T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 80831299 80831299 G T SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known missense c.2392 p.D798Y 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 68 0 0 29 6 17.1429 SMYD1 0 genome.wustl.edu 37 2 88408026 88408026 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 2 88408026 88408026 G A SNP SMYD1 ENST00000419482 human ensembl 74_37 +1 known missense c.1282 p.G428R 1.000 NULL pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD1 HGNC ENSG00000115593 55 0 0 27 3 10 CST8 0 genome.wustl.edu 37 20 23473666 23473666 + Silent SNP T T G TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 20 23473666 23473666 T G SNP CST8 ENST00000246012 human ensembl 74_37 +1 known silent c.303 p.T101 0.000 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST8 HGNC ENSG00000125815 190 0 0 112 10 8.19672 FRG1B 0 genome.wustl.edu 37 20 29625956 29625956 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 20 29625956 29625956 G A SNP FRG1B ENST00000278882 human ensembl 74_37 +1 known missense c.200 p.R67K 1.000 pfam_FRG1,superfamily_Actin_cross-linking pfam_FRG1,superfamily_Actin_cross-linking - no_errors FRG1B HGNC ENSG00000149531 139 1 0.714286 124 8 6.06061 ZSWIM3 0 genome.wustl.edu 37 20 44506132 44506132 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 20 44506132 44506132 G A SNP ZSWIM3 ENST00000255152 human ensembl 74_37 +1 known missense c.935 p.R312Q 0.996 pfam_MULE_transposase_dom,pfam_Transposase pfam_Znf_SWIM,pfam_MULE_transposase_dom,pfam_Transposase,smart_Znf_PMZ,pfscan_Znf_SWIM - no_errors ZSWIM3 HGNC ENSG00000132801 122 0 0 91 6 6.18557 FAM65C 0 genome.wustl.edu 37 20 49211914 49211914 + Missense_Mutation SNP A A G TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 20 49211914 49211914 A G SNP FAM65C ENST00000535356 human ensembl 74_37 -1 known missense c.2042 p.I681T 0.046 NULL superfamily_ARM-type_fold,superfamily_Chemokine_IL8-like_dom - no_errors FAM65C HGNC ENSG00000042062 214 0 0 148 13 8.07453 LAMA5 0 genome.wustl.edu 37 20 60909037 60909037 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 20 60909037 60909037 C T SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.2798 p.R933Q 1.000 NULL pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 41 0 0 27 5 15.625 KRTAP21-1 0 genome.wustl.edu 37 21 32127676 32127676 + Silent SNP G G T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 21 32127676 32127676 G T SNP KRTAP21-1 ENST00000335093 human ensembl 74_37 -1 known silent c.21 p.G7 0.559 NULL NULL - no_errors KRTAP21-1 HGNC ENSG00000187005 233 0 0 132 56 29.7872 SCAF4 0 genome.wustl.edu 37 21 33076196 33076196 + Nonsense_Mutation SNP G G C TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 21 33076196 33076196 G C SNP SCAF4 ENST00000286835 human ensembl 74_37 -1 known nonsense c.203 p.S68* 1.000 pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC ENSG00000156304 93 0 0 37 18 32.7273 KRTAP10-1 0 genome.wustl.edu 37 21 45959607 45959607 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 21 45959607 45959607 C T SNP KRTAP10-1 ENST00000400375 human ensembl 74_37 -1 known missense c.427 p.V143M 0.197 NULL NULL - no_errors KRTAP10-1 HGNC ENSG00000215455 215 0 0 136 14 9.33333 CECR1 0 genome.wustl.edu 37 22 17662742 17662742 + Silent SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 22 17662742 17662742 C T SNP CECR1 ENST00000262607 human ensembl 74_37 -1 known silent c.1410 p.R470 1.000 pfam_A/AMP_deaminase_dom,tigrfam_Ad_deam-like pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like - no_errors CECR1 HGNC ENSG00000093072 69 0 0 19 25 56.8182 CECR1 0 genome.wustl.edu 37 22 17690543 17690543 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 22 17690543 17690543 G A SNP CECR1 ENST00000262607 human ensembl 74_37 -1 known missense c.25 p.R9W 0.000 NULL pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like - no_errors CECR1 HGNC ENSG00000093072 56 0 0 32 6 15.7895 PRODH 0 genome.wustl.edu 37 22 18907072 18907072 + Silent SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 22 18907072 18907072 G A SNP PRODH ENST00000357068 human ensembl 74_37 -1 known silent c.1143 p.A381 0.501 pfam_Proline_DH pfam_Proline_DH - no_errors PRODH HGNC ENSG00000100033 36 0 0 22 8 26.6667 EPHB1 0 genome.wustl.edu 37 3 134967263 134967263 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 3 134967263 134967263 C T SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known missense c.2602 p.R868W 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 92 0 0 45 13 22.4138 ATR 0 genome.wustl.edu 37 3 142275400 142275400 + Nonsense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 3 142275400 142275400 G A SNP ATR ENST00000350721 human ensembl 74_37 -1 known nonsense c.1903 p.R635* 0.500 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 119 0 0 56 22 28.2051 MRPL47 0 genome.wustl.edu 37 3 179306671 179306671 + Missense_Mutation SNP T T G TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 3 179306671 179306671 T G SNP MRPL47 ENST00000476781 human ensembl 74_37 -1 known missense c.742 p.S248R 0.991 NULL pfam_Ribosomal_L47_mit - no_errors MRPL47 HGNC ENSG00000136522 131 1 0.757576 91 12 11.6505 EIF4G1 0 genome.wustl.edu 37 3 184039582 184039582 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 3 184039582 184039582 C T SNP EIF4G1 ENST00000352767 human ensembl 74_37 +1 known missense c.1231 p.L411F 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G1 HGNC ENSG00000114867 378 0 0 250 56 18.3007 KCNH8 0 genome.wustl.edu 37 3 19479730 19479730 + Nonsense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 3 19479730 19479730 C T SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known nonsense c.1252 p.R418* 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 186 0 0 64 72 52.9412 SCN5A 0 genome.wustl.edu 37 3 38597190 38597190 + Missense_Mutation SNP T T G TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 3 38597190 38597190 T G SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.4499 p.K1500T 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 97 0 0 28 30 51.7241 EPHA6 0 genome.wustl.edu 37 3 97466293 97466293 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 3 97466293 97466293 C T SNP EPHA6 ENST00000389672 human ensembl 74_37 +1 known missense c.3155 p.P1052L 0.848 superfamily_SAM/pointed,smart_SAM pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA6 HGNC ENSG00000080224 15 0 0 6 8 57.1429 PRRT3 0 genome.wustl.edu 37 3 9990795 9990795 + Silent SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 3 9990795 9990795 C T SNP PRRT3 ENST00000295984 human ensembl 74_37 -1 known silent c.1005 p.P335 0.001 NULL NULL - no_errors PRRT3 HGNC ENSG00000163704 161 0 0 61 55 47.4138 TACR3 0 genome.wustl.edu 37 4 104577407 104577407 + Nonsense_Mutation SNP C C A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 4 104577407 104577407 C A SNP TACR3 ENST00000304883 human ensembl 74_37 -1 known nonsense c.832 p.E278* 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK3_rcpt,prints_Neurokn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK3_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK1_rcpt - no_errors TACR3 HGNC ENSG00000169836 109 0 0 38 35 47.9452 ENPEP 0 genome.wustl.edu 37 4 111397617 111397617 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 4 111397617 111397617 C T SNP ENPEP ENST00000265162 human ensembl 74_37 +1 known missense c.47 p.T16M 0.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ENPEP HGNC ENSG00000138792 189 0 0 114 14 10.9375 ALPK1 0 genome.wustl.edu 37 4 113353715 113353715 + Silent SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 4 113353715 113353715 C T SNP ALPK1 ENST00000177648 human ensembl 74_37 +1 known silent c.3012 p.P1004 0.113 superfamily_Kinase-like_dom pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors ALPK1 HGNC ENSG00000073331 139 0 0 75 17 18.4783 BOD1L1 0 genome.wustl.edu 37 4 13600735 13600735 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 4 13600735 13600735 G A SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known missense c.7789 p.P2597S 0.020 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 84 0 0 27 25 48.0769 TRIML2 0 genome.wustl.edu 37 4 189020199 189020199 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 4 189020199 189020199 G A SNP TRIML2 ENST00000512729 human ensembl 74_37 -1 known missense c.461 p.A154V 0.000 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors TRIML2 HGNC ENSG00000179046 81 0 0 53 7 11.6667 GABRB1 0 genome.wustl.edu 37 4 47405441 47405441 + Missense_Mutation SNP G G C TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 4 47405441 47405441 G C SNP GABRB1 ENST00000295454 human ensembl 74_37 +1 known missense c.651 p.K217N 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB1 HGNC ENSG00000163288 66 0 0 47 7 12.963 NPFFR2 0 genome.wustl.edu 37 4 72897735 72897735 + Silent SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 4 72897735 72897735 C T SNP NPFFR2 ENST00000308744 human ensembl 74_37 +1 known silent c.117 p.R39 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPFF_rcpt_2,prints_NPFF_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPFFR2 HGNC ENSG00000056291 91 0 0 28 7 20 UNC5C 0 genome.wustl.edu 37 4 96091390 96091390 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 4 96091390 96091390 G A SNP UNC5C ENST00000453304 human ensembl 74_37 -1 known missense c.2545 p.R849W 1.000 superfamily_DEATH-like_dom,smart_Death_domain pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5C HGNC ENSG00000182168 348 0 0 185 29 13.5514 AFF4 0 genome.wustl.edu 37 5 132232559 132232559 + Missense_Mutation SNP G G T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 5 132232559 132232559 G T SNP AFF4 ENST00000265343 human ensembl 74_37 -1 known missense c.1763 p.T588N 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF4 HGNC ENSG00000072364 79 0 0 49 6 10.9091 PCDHB6 0 genome.wustl.edu 37 5 140531355 140531355 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 5 140531355 140531355 C T SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known missense c.1517 p.A506V 0.291 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 235 0 0 57 72 55.814 PCDHGB1 0 genome.wustl.edu 37 5 140731511 140731511 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 5 140731511 140731511 G A SNP PCDHGB1 ENST00000523390 human ensembl 74_37 +1 known missense c.1684 p.A562T 0.080 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB1 HGNC ENSG00000254221 109 0 0 15 8 34.7826 PCDHGB3 0 genome.wustl.edu 37 5 140749978 140749978 + Missense_Mutation SNP G G T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 5 140749978 140749978 G T SNP PCDHGB3 ENST00000576222 human ensembl 74_37 +1 known missense c.17 p.G6V 0.001 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB3 HGNC ENSG00000262209 53 0 0 23 20 46.5116 TENM2 0 genome.wustl.edu 37 5 167627103 167627103 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 5 167627103 167627103 G A SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known missense c.3397 p.G1133S 1.000 superfamily_ConA-like_lec_gl_sf pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 32 0 0 9 11 55 ZFP2 0 genome.wustl.edu 37 5 178359223 178359223 + Silent SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 5 178359223 178359223 C T SNP ZFP2 ENST00000361362 human ensembl 74_37 +1 known silent c.909 p.C303 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP2 HGNC ENSG00000198939 78 0 0 49 4 7.54717 EDIL3 0 genome.wustl.edu 37 5 83680162 83680162 + Missense_Mutation SNP C C A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 5 83680162 83680162 C A SNP EDIL3 ENST00000296591 human ensembl 74_37 -1 known missense c.31 p.V11F 0.021 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors EDIL3 HGNC ENSG00000164176 150 0 0 33 25 43.1034 MYCT1 0 genome.wustl.edu 37 6 153042975 153042975 + Missense_Mutation SNP G G T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 6 153042975 153042975 G T SNP MYCT1 ENST00000367245 human ensembl 74_37 +1 known missense c.295 p.A99S 1.000 NULL NULL - no_errors MYCT1 HGNC ENSG00000120279 100 0 0 76 5 6.17284 HIST1H2BO 0 genome.wustl.edu 37 6 27861305 27861305 + Missense_Mutation SNP C C G TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 6 27861305 27861305 C G SNP HIST1H2BO ENST00000303806 human ensembl 74_37 +1 known missense c.65 p.A22G 1.000 superfamily_Histone-fold pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BO HGNC ENSG00000196331 105 0 0 87 9 9.375 ZNF165 0 genome.wustl.edu 37 6 28056607 28056607 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 6 28056607 28056607 G A SNP ZNF165 ENST00000377325 human ensembl 74_37 +1 known missense c.817 p.D273N 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF165 HGNC ENSG00000197279 56 0 0 22 13 37.1429 TNXB 0 genome.wustl.edu 37 6 32011597 32011597 + Missense_Mutation SNP C C G TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 6 32011597 32011597 C G SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.11453 p.R3818P 0.024 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 245 0 0 144 10 6.49351 BTNL2 0 genome.wustl.edu 37 6 32372905 32372905 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 6 32372905 32372905 C T SNP BTNL2 ENST00000454136 human ensembl 74_37 -1 known missense c.238 p.G80R 0.749 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors BTNL2 HGNC ENSG00000204290 193 0 0 141 21 12.963 MCM3 0 genome.wustl.edu 37 6 52142412 52142412 + Silent SNP G G C TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 6 52142412 52142412 G C SNP MCM3 ENST00000596288 human ensembl 74_37 -1 known silent c.1089 p.L363 0.984 pfam_MCM_DNA-dep_ATPase,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_Mcm3 - no_errors MCM3 HGNC ENSG00000112118 126 0 0 74 19 20.4301 ICK 0 genome.wustl.edu 37 6 52884073 52884073 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 6 52884073 52884073 C T SNP ICK ENST00000350082 human ensembl 74_37 -1 known missense c.443 p.R148Q 1.000 pfam_Prot_kinase_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_dom pfam_Prot_kinase_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_dom - no_errors ICK HGNC ENSG00000112144 52 0 0 41 6 12.766 C7orf60 0 genome.wustl.edu 37 7 112461939 112461939 + Nonsense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 7 112461939 112461939 G A SNP C7orf60 ENST00000297145 human ensembl 74_37 -1 known nonsense c.1078 p.R360* 1.000 NULL pfam_DUF3321 - no_errors C7orf60 HGNC ENSG00000164603 46 0 0 21 3 12.5 OR9A4 0 genome.wustl.edu 37 7 141619580 141619580 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 7 141619580 141619580 G A SNP OR9A4 ENST00000548136 human ensembl 74_37 +1 known missense c.905 p.R302Q 0.002 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9A4 HGNC ENSG00000258083 94 0 0 65 22 25.2874 TRPV5 0 genome.wustl.edu 37 7 142622604 142622604 + Missense_Mutation SNP C C A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 7 142622604 142622604 C A SNP TRPV5 ENST00000442623 human ensembl 74_37 -1 novel missense c.1142 p.G381V 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6,prints_Ankyrin_rpt - no_errors TRPV5 HGNC ENSG00000127412 45 0 0 19 6 24 SSPO 0 genome.wustl.edu 37 7 149523267 149523267 + RNA SNP A A G TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 7 149523267 149523267 A G SNP SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 0.321 - - - no_errors SSPO HGNC ENSG00000197558 95 0 0 33 21 38.8889 AGMO 0 genome.wustl.edu 37 7 15584446 15584446 + Silent SNP G G C TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 7 15584446 15584446 G C SNP AGMO ENST00000342526 human ensembl 74_37 -1 known silent c.360 p.A120 0.963 pfam_Fatty_acid_hydroxylase pfam_Fatty_acid_hydroxylase - no_errors AGMO HGNC ENSG00000187546 161 0 0 157 18 10.2857 SDK1 0 genome.wustl.edu 37 7 4107518 4107518 + Missense_Mutation SNP C C A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 7 4107518 4107518 C A SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.2960 p.S987Y 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 23 0 0 31 6 16.2162 C1GALT1 0 genome.wustl.edu 37 7 7283232 7283232 + Silent SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 7 7283232 7283232 C T SNP C1GALT1 ENST00000223122 human ensembl 74_37 +1 known silent c.966 p.L322 1.000 NULL pfam_Fringe-like,pfam_Glyco_trans_31 - no_errors C1GALT1 HGNC ENSG00000106392 151 1 0.657895 124 20 13.8889 KIAA1324L 0 genome.wustl.edu 37 7 86509822 86509822 + Missense_Mutation SNP C C A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 7 86509822 86509822 C A SNP KIAA1324L ENST00000450689 human ensembl 74_37 -1 known missense c.3055 p.V1019F 1.000 NULL superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom - no_errors KIAA1324L HGNC ENSG00000164659 43 0 0 41 4 8.88889 DLX5 0 genome.wustl.edu 37 7 96651624 96651624 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 7 96651624 96651624 C T SNP DLX5 ENST00000222598 human ensembl 74_37 -1 known missense c.413 p.R138H 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Distal-less_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX5 HGNC ENSG00000105880 163 0 0 109 13 10.6557 CSMD3 0 genome.wustl.edu 37 8 113933896 113933896 + Missense_Mutation SNP T T G TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 8 113933896 113933896 T G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.1593 p.E531D 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 98 0 0 63 39 38.2353 CPSF1 0 genome.wustl.edu 37 8 145622114 145622114 + Nonsense_Mutation SNP C C A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 8 145622114 145622114 C A SNP CPSF1 ENST00000349769 human ensembl 74_37 -1 known nonsense c.2623 p.E875* 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 47 0 0 25 9 26.4706 UNC5D 0 genome.wustl.edu 37 8 35608158 35608158 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 8 35608158 35608158 C T SNP UNC5D ENST00000404895 human ensembl 74_37 +1 known missense c.1994 p.A665V 0.999 NULL pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5D HGNC ENSG00000156687 164 1 0.606061 78 22 22 ST18 0 genome.wustl.edu 37 8 53073985 53073985 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 8 53073985 53073985 C T SNP ST18 ENST00000276480 human ensembl 74_37 -1 known missense c.1544 p.R515H 0.999 pfam_Myelin_TF pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 150 0 0 102 10 8.92857 PDE7A 0 genome.wustl.edu 37 8 66647072 66647072 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 8 66647072 66647072 G A SNP PDE7A ENST00000401827 human ensembl 74_37 -1 known missense c.653 p.A218V 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE7A HGNC ENSG00000205268 158 0 0 93 41 30.597 SLCO5A1 0 genome.wustl.edu 37 8 70744273 70744273 + Silent SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 8 70744273 70744273 G A SNP SLCO5A1 ENST00000260126 human ensembl 74_37 -1 known silent c.636 p.F212 0.963 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO5A1 HGNC ENSG00000137571 39 0 0 14 7 33.3333 TRPA1 0 genome.wustl.edu 37 8 72984022 72984022 + Silent SNP G G T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 8 72984022 72984022 G T SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known silent c.192 p.T64 0.002 NULL pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 38 0 0 25 11 30.5556 FABP9 0 genome.wustl.edu 37 8 82371457 82371457 + Silent SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 8 82371457 82371457 G A SNP FABP9 ENST00000379071 human ensembl 74_37 -1 known silent c.189 p.I63 1.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors FABP9 HGNC ENSG00000205186 160 0 0 155 16 9.35673 TNFSF15 0 genome.wustl.edu 37 9 117553091 117553091 + Missense_Mutation SNP T T G TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 9 117553091 117553091 T G SNP TNFSF15 ENST00000374045 human ensembl 74_37 -1 known missense c.397 p.N133H 1.000 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_TNF - no_errors TNFSF15 HGNC ENSG00000181634 90 0 0 63 5 7.35294 TRIM32 0 genome.wustl.edu 37 9 119461125 119461125 + Silent SNP A A T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 9 119461125 119461125 A T SNP TRIM32 ENST00000373983 human ensembl 74_37 +1 known silent c.1104 p.P368 0.937 pfscan_NHL_repeat_subgr pfam_NHL_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM32 HGNC ENSG00000119401 133 0 0 63 8 11.2676 ZBTB6 0 genome.wustl.edu 37 9 125673768 125673768 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 9 125673768 125673768 G A SNP ZBTB6 ENST00000373659 human ensembl 74_37 -1 known missense c.584 p.S195L 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB6 HGNC ENSG00000186130 64 0 0 36 7 16.2791 TYRP1 0 genome.wustl.edu 37 9 12694213 12694213 + Silent SNP C C A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 9 12694213 12694213 C A SNP TYRP1 ENST00000388918 human ensembl 74_37 +1 known silent c.217 p.R73 0.997 NULL pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYRP1 HGNC ENSG00000107165 38 0 0 22 3 12 PNPLA7 0 genome.wustl.edu 37 9 140361819 140361819 + Missense_Mutation SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 9 140361819 140361819 C T SNP PNPLA7 ENST00000406427 human ensembl 74_37 -1 known missense c.2989 p.E997K 0.999 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA7 HGNC ENSG00000130653 85 0 0 44 8 15.3846 NFIB 0 genome.wustl.edu 37 9 14120531 14120531 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 9 14120531 14120531 G A SNP NFIB ENST00000397581 human ensembl 74_37 -1 known missense c.1153 p.P385S 1.000 pfam_CTF/NFI pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIB HGNC ENSG00000147862 103 1 0.961538 38 16 29.6296 FOCAD 0 genome.wustl.edu 37 9 20866978 20866978 + Silent SNP A A T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 9 20866978 20866978 A T SNP FOCAD ENST00000338382 human ensembl 74_37 +1 known silent c.2157 p.A719 0.031 superfamily_ARM-type_fold pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC ENSG00000188352 131 0 0 74 5 6.32911 LINGO2 0 genome.wustl.edu 37 9 27950157 27950157 + Silent SNP C C T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 9 27950157 27950157 C T SNP LINGO2 ENST00000308675 human ensembl 74_37 -1 known silent c.513 p.R171 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO2 HGNC ENSG00000174482 67 0 0 53 4 7.01754 AQP3 0 genome.wustl.edu 37 9 33442855 33442855 + Missense_Mutation SNP C C G TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 9 33442855 33442855 C G SNP AQP3 ENST00000297991 human ensembl 74_37 -1 known missense c.487 p.D163H 1.000 pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_3,prints_MIP,tigrfam_MIP - no_errors AQP3 HGNC ENSG00000165272 285 0 0 188 16 7.84314 DUSP9 0 genome.wustl.edu 37 X 152914821 152914821 + Missense_Mutation SNP G G A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 X 152914821 152914821 G A SNP DUSP9 ENST00000342782 human ensembl 74_37 +1 known missense c.508 p.D170N 0.999 pirsf_MKP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP9 HGNC ENSG00000130829 42 0 0 13 6 31.5789 INSRR 0 genome.wustl.edu 37 1 156821834 156821840 + Frame_Shift_Del DEL GGCAGGC GGCAGGC - TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 GGCAGGC GGCAGGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 1 156821834 156821840 GGCAGGC - DEL INSRR ENST00000368195 human ensembl 74_37 -1 known frame_shift_del c.787_781 p.A261fs 1.000:1.000:1.000:1.000:1.000:1.000:0.021 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSRR HGNC ENSG00000027644 76 0 0 28 7 20 MLLT6 0 genome.wustl.edu 37 17 36861913 36861914 + Frame_Shift_Ins INS - - T TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 17 36861913 36861914 - T INS MLLT6 ENST00000325718 human ensembl 74_37 +1 known frame_shift_ins c.28_29 p.C11fs 1.000:1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MLLT6 HGNC ENSG00000108292 174 0 0 96 24 20 APC 0 genome.wustl.edu 37 5 112175951 112175952 + Frame_Shift_Ins INS - - A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 5 112175951 112175952 - A INS APC ENST00000257430 human ensembl 74_37 +1 known frame_shift_ins c.4660_4661 p.T1556fs 0.925:0.945 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 81 0 0 48 32 40 PCDHGA2 0 genome.wustl.edu 37 5 140718743 140718743 + Frame_Shift_Del DEL A A - TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 5 140718743 140718743 A - DEL PCDHGA2 ENST00000394576 human ensembl 74_37 +1 known frame_shift_del c.205 p.R69fs 0.986 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 122 0 0 102 9 8.10811 CD2AP 0 genome.wustl.edu 37 6 47576890 47576904 + In_Frame_Del DEL CTTCTAAAGCAAATA CTTCTAAAGCAAATA - TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 CTTCTAAAGCAAATA CTTCTAAAGCAAATA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 6 47576890 47576904 CTTCTAAAGCAAATA - DEL CD2AP ENST00000359314 human ensembl 74_37 +1 known in_frame_del c.1664_1678 p.SKANT556in_frame_del 0.999:0.998:1.000:1.000:1.000:1.000:0.998:0.990:0.937:0.986:0.989:0.987:0.801:0.744:0.004 NULL pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors CD2AP HGNC ENSG00000198087 75 0 0 44 17 27.8689 COL12A1 0 genome.wustl.edu 37 6 75890837 75890838 + Frame_Shift_Ins INS - - A TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 6 75890837 75890838 - A INS COL12A1 ENST00000322507 human ensembl 74_37 -1 known frame_shift_ins c.1982_1981 p.S661fs 1.000:0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 53 0 0 39 15 27.7778 SAMD9 0 genome.wustl.edu 37 7 92731760 92731760 + Frame_Shift_Del DEL A A - TCGA-IN-A6RP-01A-21D-A33T-08 TCGA-IN-A6RP-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d663ff29-3a7a-4b98-af78-45153a50b526 e84bf255-73be-4700-a439-058690f04ba7 7 92731760 92731760 A - DEL SAMD9 ENST00000379958 human ensembl 74_37 -1 known frame_shift_del c.3651 p.F1217fs 0.850 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 99 0 0 84 12 12.5