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 PRAMEF11 0 genome.wustl.edu 37 1 12884983 12884983 + Silent SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 1 12884983 12884983 C T SNP PRAMEF11 ENST00000535591 human ensembl 74_37 -1 known silent c.1128 p.P376 0.003 NULL NULL - no_errors PRAMEF11 HGNC ENSG00000204513 160 0 0 99 39 28.2609 PRAMEF2 0 genome.wustl.edu 37 1 12920055 12920055 + Missense_Mutation SNP G G T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 1 12920055 12920055 G T SNP PRAMEF2 ENST00000240189 human ensembl 74_37 +1 known missense c.795 p.R265S 0.017 NULL NULL - no_errors PRAMEF2 HGNC ENSG00000120952 118 0 0 80 13 13.9785 LOC100996735 0 genome.wustl.edu 37 1 148933289 148933289 + Splice_Site SNP A A G TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 1 148933289 148933289 A G SNP LOC100996735 ENST00000294715 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.194 - - - no_errors RP11-14N7.2 Clone_based_vega_gene ENSG00000232527 12 0 0 9 4 30.7692 HRNR 0 genome.wustl.edu 37 1 152192118 152192118 + Missense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 1 152192118 152192118 C T SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.1987 p.G663S 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 441 0 0 362 41 10.1737 SPRR1A 0 genome.wustl.edu 37 1 152957856 152957856 + Missense_Mutation SNP C C G TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 1 152957856 152957856 C G SNP SPRR1A ENST00000307122 human ensembl 74_37 +1 known missense c.150 p.H50Q 0.135 pfam_Cornifin pfam_Cornifin - no_errors SPRR1A HGNC ENSG00000169474 293 2 0.677966 208 27 11.4894 CD1A 0 genome.wustl.edu 37 1 158227221 158227221 + Silent SNP T T C TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 1 158227221 158227221 T C SNP CD1A ENST00000289429 human ensembl 74_37 +1 known silent c.894 p.S298 0.000 NULL pfam_Ig_C1-set,pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1A HGNC ENSG00000158477 179 0 0 151 20 11.6959 SPTA1 0 genome.wustl.edu 37 1 158585162 158585162 + Missense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 1 158585162 158585162 C T SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.6632 p.R2211H 0.978 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 156 0 0 89 38 29.9213 NBPF1 0 genome.wustl.edu 37 1 16939857 16939857 + RNA SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 1 16939857 16939857 C T SNP NBPF1 ENST00000449853 human ensembl 74_37 -1 known rna NULL NULL 0.597 - - - no_errors NBPF1 HGNC ENSG00000219481 8 0 0 8 3 27.2727 TTC13 0 genome.wustl.edu 37 1 231044732 231044732 + Missense_Mutation SNP T T C TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 1 231044732 231044732 T C SNP TTC13 ENST00000366661 human ensembl 74_37 -1 known missense c.2344 p.M782V 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC13 HGNC ENSG00000143643 128 0 0 118 7 5.6 GALE 0 genome.wustl.edu 37 1 24124220 24124220 + Missense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 1 24124220 24124220 C T SNP GALE ENST00000374497 human ensembl 74_37 -1 known missense c.493 p.E165K 1.000 pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,tigrfam_GalE pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_dTDP_dehydrorham_reduct,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_Male_sterile_NAD-bd,pfam_PKS_KR,prints_Nuc_sugar_epim,tigrfam_GalE - no_errors GALE HGNC ENSG00000117308 92 0 0 52 14 21.2121 ZFP69B 0 genome.wustl.edu 37 1 40929058 40929058 + Missense_Mutation SNP G G C TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 1 40929058 40929058 G C SNP ZFP69B ENST00000411995 human ensembl 74_37 +1 known missense c.1402 p.V468L 0.993 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,superfamily_Krueppel-associated_box,superfamily_Retrov_capsid_C,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZFP69B HGNC ENSG00000187801 73 0 0 44 6 12 IPO13 0 genome.wustl.edu 37 1 44424237 44424237 + Silent SNP C C A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 1 44424237 44424237 C A SNP IPO13 ENST00000372343 human ensembl 74_37 +1 known silent c.1854 p.I618 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO13 HGNC ENSG00000117408 93 0 0 50 14 21.875 RPE65 0 genome.wustl.edu 37 1 68906582 68906582 + Missense_Mutation SNP A A T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 1 68906582 68906582 A T SNP RPE65 ENST00000262340 human ensembl 74_37 -1 known missense c.597 p.N199K 0.997 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors RPE65 HGNC ENSG00000116745 48 0 0 30 5 14.2857 PDCD11 0 genome.wustl.edu 37 10 105158256 105158256 + Nonsense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 10 105158256 105158256 C T SNP PDCD11 ENST00000369797 human ensembl 74_37 +1 known nonsense c.73 p.Q25* 0.110 NULL pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 84 0 0 46 7 13.2075 PLEKHS1 0 genome.wustl.edu 37 10 115526470 115526470 + Missense_Mutation SNP A A G TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 10 115526470 115526470 A G SNP PLEKHS1 ENST00000369310 human ensembl 74_37 +1 known missense c.199 p.I67V 0.993 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHS1 HGNC ENSG00000148735 52 0 0 28 6 17.6471 NEBL 0 genome.wustl.edu 37 10 21117564 21117564 + Splice_Site SNP C C G TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 10 21117564 21117564 C G SNP NEBL ENST00000377122 human ensembl 74_37 -1 known splice_site c.1672-1 e17-1 1.000 - - - no_errors NEBL HGNC ENSG00000078114 19 0 0 15 3 16.6667 ARMC3 0 genome.wustl.edu 37 10 23295908 23295908 + Silent SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 10 23295908 23295908 C T SNP ARMC3 ENST00000298032 human ensembl 74_37 +1 known silent c.1827 p.Y609 0.000 NULL pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC3 HGNC ENSG00000165309 80 0 0 61 10 14.0845 ZNF33A 0 genome.wustl.edu 37 10 38344966 38344966 + Missense_Mutation SNP A A C TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 10 38344966 38344966 A C SNP ZNF33A ENST00000432900 human ensembl 74_37 +1 known missense c.1932 p.K644N 0.063 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 ZNF33A HGNC ENSG00000189180 78 0 0 54 4 6.89655 PGBD3 0 genome.wustl.edu 37 10 50724334 50724334 + Missense_Mutation SNP T T C TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 10 50724334 50724334 T C SNP PGBD3 ENST00000603152 human ensembl 74_37 -1 known missense c.2231 p.Y744C 0.044 NULL NULL - no_errors PGBD3 HGNC ENSG00000243251 68 0 0 43 8 15.6863 PCDH15 0 genome.wustl.edu 37 10 56077046 56077046 + Silent SNP A A T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 10 56077046 56077046 A T SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known silent c.861 p.P287 0.991 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 94 0 0 51 10 16.3934 SAR1A 0 genome.wustl.edu 37 10 71913593 71913593 + Splice_Site SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 10 71913593 71913593 C T SNP SAR1A ENST00000373238 human ensembl 74_37 -1 known splice_site c.480+1 e5+1 1.000 - - - no_errors SAR1A HGNC ENSG00000079332 158 0 0 122 27 18.1208 MMRN2 0 genome.wustl.edu 37 10 88702628 88702628 + Missense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 10 88702628 88702628 C T SNP MMRN2 ENST00000372027 human ensembl 74_37 -1 known missense c.1913 p.R638H 0.000 NULL pfam_C1q,pfam_EMI_domain,superfamily_Tumour_necrosis_fac-like_dom,superfamily_tRNA-bd_arm,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors MMRN2 HGNC ENSG00000173269 22 0 0 10 3 23.0769 MUC2 0 genome.wustl.edu 37 11 1092910 1092910 + Missense_Mutation SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 11 1092910 1092910 G A SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known missense c.4729 p.G1577S 0.048 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 37 0 0 35 3 7.89474 ARHGAP20 0 genome.wustl.edu 37 11 110451527 110451527 + Missense_Mutation SNP G G T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 11 110451527 110451527 G T SNP ARHGAP20 ENST00000260283 human ensembl 74_37 -1 known missense c.2143 p.L715I 0.315 NULL pfam_RhoGAP_dom,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Ras-assoc,pfscan_RhoGAP_dom - no_errors ARHGAP20 HGNC ENSG00000137727 94 0 0 73 11 13.0952 DSCAML1 0 genome.wustl.edu 37 11 117310000 117310000 + Missense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 11 117310000 117310000 C T SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known missense c.4306 p.V1436I 0.998 pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 103 0 0 65 4 5.7971 MUC5B 0 genome.wustl.edu 37 11 1272159 1272159 + Silent SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 11 1272159 1272159 G A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.14058 p.T4686 0.001 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 45 0 0 24 4 14.2857 LOC440040 0 genome.wustl.edu 37 11 49831413 49831413 + RNA SNP A A C TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 11 49831413 49831413 A C SNP LOC440040 ENST00000527477 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors RP11-707M1.1 Clone_based_vega_gene ENSG00000205035 65 0 0 29 4 12.1212 MS4A14 0 genome.wustl.edu 37 11 60170398 60170398 + Missense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 11 60170398 60170398 C T SNP MS4A14 ENST00000300187 human ensembl 74_37 +1 known missense c.332 p.T111M 0.000 pfam_CD20-like pfam_CD20-like - no_errors MS4A14 HGNC ENSG00000166928 146 0 0 101 19 15.8333 MS4A10 0 genome.wustl.edu 37 11 60558491 60558491 + Silent SNP C C A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 11 60558491 60558491 C A SNP MS4A10 ENST00000308287 human ensembl 74_37 +1 known silent c.228 p.G76 0.002 pfam_CD20-like pfam_CD20-like - no_errors MS4A10 HGNC ENSG00000172689 182 0 0 131 24 15.4839 CCDC86 0 genome.wustl.edu 37 11 60609973 60609973 + Missense_Mutation SNP A A C TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 11 60609973 60609973 A C SNP CCDC86 ENST00000227520 human ensembl 74_37 +1 known missense c.376 p.K126Q 0.000 NULL NULL - no_errors CCDC86 HGNC ENSG00000110104 172 0 0 122 21 14.6853 DDB1 0 genome.wustl.edu 37 11 61094279 61094279 + Silent SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 11 61094279 61094279 G A SNP DDB1 ENST00000301764 human ensembl 74_37 -1 known silent c.636 p.V212 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors DDB1 HGNC ENSG00000167986 240 0 0 198 33 14.2857 DAGLA 0 genome.wustl.edu 37 11 61508640 61508640 + Missense_Mutation SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 11 61508640 61508640 G A SNP DAGLA ENST00000257215 human ensembl 74_37 +1 known missense c.1990 p.E664K 1.000 NULL pfam_Lipase_3 - no_errors DAGLA HGNC ENSG00000134780 130 0 0 65 29 30.8511 CTSW 0 genome.wustl.edu 37 11 65650595 65650595 + Missense_Mutation SNP G G T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 11 65650595 65650595 G T SNP CTSW ENST00000307886 human ensembl 74_37 +1 known missense c.801 p.K267N 0.001 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSW HGNC ENSG00000172543 259 1 0.384615 205 32 13.5021 CABP2 0 genome.wustl.edu 37 11 67287394 67287394 + Silent SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 11 67287394 67287394 G A SNP CABP2 ENST00000294288 human ensembl 74_37 -1 known silent c.507 p.D169 1.000 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CABP2 HGNC ENSG00000167791 61 0 0 32 11 25.5814 PDE2A 0 genome.wustl.edu 37 11 72289976 72289976 + Missense_Mutation SNP G G T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 11 72289976 72289976 G T SNP PDE2A ENST00000334456 human ensembl 74_37 -1 known missense c.2434 p.Q812K 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE2A HGNC ENSG00000186642 47 0 0 33 24 42.1053 ARAP1 0 genome.wustl.edu 37 11 72398783 72398783 + Silent SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 11 72398783 72398783 G A SNP ARAP1 ENST00000393609 human ensembl 74_37 -1 known silent c.4071 p.C1357 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP1 HGNC ENSG00000186635 225 0 0 143 73 33.7963 WDR66 0 genome.wustl.edu 37 12 122404867 122404867 + Silent SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 12 122404867 122404867 G A SNP WDR66 ENST00000288912 human ensembl 74_37 +1 known silent c.2499 p.T833 0.717 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR66 HGNC ENSG00000158023 135 0 0 85 22 20.5607 CACNA1C 0 genome.wustl.edu 37 12 2675732 2675732 + Missense_Mutation SNP G G T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 12 2675732 2675732 G T SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known missense c.1653 p.W551C 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 19 0 0 10 3 23.0769 DDX11 0 genome.wustl.edu 37 12 31237922 31237922 + Missense_Mutation SNP G G C TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 12 31237922 31237922 G C SNP DDX11 ENST00000407793 human ensembl 74_37 +1 known missense c.500 p.R167T 0.018 superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3 pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors DDX11 HGNC ENSG00000013573 20 0 0 18 5 21.7391 NELL2 0 genome.wustl.edu 37 12 45173632 45173632 + Missense_Mutation SNP T T C TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 12 45173632 45173632 T C SNP NELL2 ENST00000437801 human ensembl 74_37 -1 known missense c.659 p.K220R 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL2 HGNC ENSG00000184613 85 0 0 49 8 14.0351 PRPF40B 0 genome.wustl.edu 37 12 50028897 50028897 + Silent SNP G G T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 12 50028897 50028897 G T SNP PRPF40B ENST00000548825 human ensembl 74_37 +1 known silent c.1017 p.L339 1.000 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors PRPF40B HGNC ENSG00000110844 55 0 0 28 2 6.66667 KRT75 0 genome.wustl.edu 37 12 52824425 52824425 + Missense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 12 52824425 52824425 C T SNP KRT75 ENST00000252245 human ensembl 74_37 -1 known missense c.935 p.R312H 1.000 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC ENSG00000170454 195 0 0 142 32 18.3908 RARG 0 genome.wustl.edu 37 12 53621231 53621231 + Silent SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 12 53621231 53621231 G A SNP RARG ENST00000394426 human ensembl 74_37 -1 known silent c.99 p.L33 1.000 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARG HGNC ENSG00000172819 52 0 0 33 20 37.7358 CHD4 0 genome.wustl.edu 37 12 6690868 6690868 + Missense_Mutation SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 12 6690868 6690868 G A SNP CHD4 ENST00000309577 human ensembl 74_37 -1 known missense c.4712 p.P1571L 1.000 NULL pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 124 0 0 118 12 9.23077 CLYBL 0 genome.wustl.edu 37 13 100425205 100425205 + Missense_Mutation SNP T T A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 13 100425205 100425205 T A SNP CLYBL ENST00000339105 human ensembl 74_37 +1 known missense c.190 p.S64T 0.003 pfam_Aldehyde-lyase_domain,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,pirsf_Citrate_lyase_beta pfam_Aldehyde-lyase_domain,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,pirsf_Citrate_lyase_beta - no_errors CLYBL HGNC ENSG00000125246 94 0 0 59 11 15.7143 SACS 0 genome.wustl.edu 37 13 23905122 23905122 + Missense_Mutation SNP A A C TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 13 23905122 23905122 A C SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.12893 p.L4298R 0.970 superfamily_DnaJ_domain pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 104 0 0 89 18 16.8224 MTUS2 0 genome.wustl.edu 37 13 29598939 29598939 + Missense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 13 29598939 29598939 C T SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known missense c.134 p.T45M 0.014 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 78 0 0 40 7 14.8936 NBEA 0 genome.wustl.edu 37 13 36241642 36241642 + Nonsense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 13 36241642 36241642 C T SNP NBEA ENST00000310336 human ensembl 74_37 +1 known nonsense c.8533 p.R2845* 0.978 superfamily_WD40_repeat_dom 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 201 0 0 126 19 13.1034 FREM2 0 genome.wustl.edu 37 13 39425246 39425246 + Splice_Site SNP G G C TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 13 39425246 39425246 G C SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known splice_site c.6742+1 e10+1 1.000 - - - no_errors FREM2 HGNC ENSG00000150893 52 0 0 43 5 10.4167 DYNC1H1 0 genome.wustl.edu 37 14 102467528 102467528 + Missense_Mutation SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 14 102467528 102467528 G A SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known missense c.4232 p.R1411H 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 359 0 0 172 147 46.0815 METTL17 0 genome.wustl.edu 37 14 21464860 21464860 + Missense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 14 21464860 21464860 C T SNP METTL17 ENST00000382985 human ensembl 74_37 +1 known missense c.1255 p.R419W 0.431 pfam_Ribosomal_Rsm22_bac-type pfam_Ribosomal_Rsm22_bac-type,pfam_Methyltransf_11 - no_errors METTL17 HGNC ENSG00000165792 123 1 0.806452 87 49 36.0294 PAX9 0 genome.wustl.edu 37 14 37132490 37132490 + Silent SNP C C A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 14 37132490 37132490 C A SNP PAX9 ENST00000361487 human ensembl 74_37 +1 known silent c.393 p.I131 1.000 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX9 HGNC ENSG00000198807 154 0 0 560 70 11.1111 MIPOL1 0 genome.wustl.edu 37 14 37969170 37969170 + Silent SNP T T C TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 14 37969170 37969170 T C SNP MIPOL1 ENST00000327441 human ensembl 74_37 +1 known silent c.1089 p.L363 0.695 NULL NULL - no_errors MIPOL1 HGNC ENSG00000151338 86 0 0 273 46 14.4201 SAMD15 0 genome.wustl.edu 37 14 77845388 77845388 + Missense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 14 77845388 77845388 C T SNP SAMD15 ENST00000216471 human ensembl 74_37 +1 known missense c.1627 p.L543F 0.481 superfamily_SAM/pointed,smart_SAM pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD15 HGNC ENSG00000100583 73 0 0 52 12 18.75 RYR3 0 genome.wustl.edu 37 15 33895329 33895329 + Missense_Mutation SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 15 33895329 33895329 G A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.1928 p.R643Q 1.000 pfscan_B30.2/SPRY pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 127 0 0 76 13 14.6067 PAK6 0 genome.wustl.edu 37 15 40568171 40568171 + Missense_Mutation SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 15 40568171 40568171 G A SNP PAK6 ENST00000260404 human ensembl 74_37 +1 known missense c.1922 p.R641Q 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,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK6 HGNC ENSG00000137843 178 1 0.558659 138 22 13.75 MYO5A 0 genome.wustl.edu 37 15 52622646 52622646 + Nonsense_Mutation SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 15 52622646 52622646 G A SNP MYO5A ENST00000358212 human ensembl 74_37 -1 known nonsense c.4459 p.R1487* 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC ENSG00000197535 140 0 0 85 14 14.1414 HERC1 0 genome.wustl.edu 37 15 64017608 64017608 + Missense_Mutation SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 15 64017608 64017608 G A SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.3451 p.R1151W 0.998 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 131 0 0 121 16 11.6788 SKOR1 0 genome.wustl.edu 37 15 68118661 68118661 + Silent SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 15 68118661 68118661 G A SNP SKOR1 ENST00000380035 human ensembl 74_37 +1 known silent c.495 p.S165 0.768 pfam_Transform_Ski,superfamily_DNA-bd_dom_put pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like - no_errors SKOR1 HGNC ENSG00000188779 141 0 0 96 17 15.0442 CYP1A1 0 genome.wustl.edu 37 15 75013993 75013993 + Silent SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 15 75013993 75013993 G A SNP CYP1A1 ENST00000379727 human ensembl 74_37 -1 known silent c.891 p.N297 0.963 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP1A1 HGNC ENSG00000140465 97 0 0 73 12 14.1176 LOC645752 0 genome.wustl.edu 37 15 78211202 78211202 + RNA SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 15 78211202 78211202 C T SNP LOC645752 ENST00000567226 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors RP11-114H24.2 Clone_based_vega_gene ENSG00000260776 225 0 0 175 65 27.0833 ADAMTSL3 0 genome.wustl.edu 37 15 84694085 84694085 + Missense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 15 84694085 84694085 C T SNP ADAMTSL3 ENST00000286744 human ensembl 74_37 +1 known missense c.4553 p.T1518I 0.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 70 0 0 60 9 13.0435 CACNA1H 0 genome.wustl.edu 37 16 1250551 1250551 + Missense_Mutation SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 16 1250551 1250551 G A SNP CACNA1H ENST00000348261 human ensembl 74_37 +1 known missense c.1099 p.A367T 0.999 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 86 0 0 60 4 6.25 KIAA0430 0 genome.wustl.edu 37 16 15715617 15715617 + Missense_Mutation SNP G G T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 16 15715617 15715617 G T SNP KIAA0430 ENST00000396368 human ensembl 74_37 -1 known missense c.2612 p.A871D 1.000 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 65 0 0 49 7 12.5 NOMO3 0 genome.wustl.edu 37 16 16367902 16367902 + Missense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 16 16367902 16367902 C T SNP NOMO3 ENST00000399336 human ensembl 74_37 +1 known missense c.2326 p.P776S 0.999 NULL pfam_DUF2012,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,superfamily_Collagen-bd_Cna_B-typ_dom - no_errors NOMO3 HGNC ENSG00000103226 122 0 0 72 9 11.1111 CACNG3 0 genome.wustl.edu 37 16 24372728 24372728 + Silent SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 16 24372728 24372728 C T SNP CACNG3 ENST00000005284 human ensembl 74_37 +1 known silent c.492 p.P164 0.141 pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu - no_errors CACNG3 HGNC ENSG00000006116 176 0 0 125 14 10.0719 AQP8 0 genome.wustl.edu 37 16 25232887 25232887 + Missense_Mutation SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 16 25232887 25232887 G A SNP AQP8 ENST00000219660 human ensembl 74_37 +1 known missense c.370 p.G124R 1.000 pfam_MIP,superfamily_Aquaporin-like,prints_MIP pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_8,prints_MIP - no_errors AQP8 HGNC ENSG00000103375 143 0 0 82 13 13.6842 PHKB 0 genome.wustl.edu 37 16 47533780 47533780 + Missense_Mutation SNP G G T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 16 47533780 47533780 G T SNP PHKB ENST00000299167 human ensembl 74_37 +1 known missense c.280 p.A94S 0.752 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKB HGNC ENSG00000102893 120 0 0 109 11 9.16667 ZNF423 0 genome.wustl.edu 37 16 49669760 49669760 + Silent SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 16 49669760 49669760 G A SNP ZNF423 ENST00000262383 human ensembl 74_37 -1 known silent c.3303 p.N1101 0.192 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 48 0 0 47 9 16.0714 USB1 0 genome.wustl.edu 37 16 58036513 58036513 + Missense_Mutation SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 16 58036513 58036513 G A SNP USB1 ENST00000219281 human ensembl 74_37 +1 known missense c.229 p.E77K 1.000 pfam_Usb1 pfam_Usb1 - no_errors USB1 HGNC ENSG00000103005 123 1 0.806452 89 18 16.8224 DHODH 0 genome.wustl.edu 37 16 72048403 72048403 + Missense_Mutation SNP A A G TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 16 72048403 72048403 A G SNP DHODH ENST00000219240 human ensembl 74_37 +1 known missense c.266 p.N89S 1.000 pfam_Dihydroorotate_DH_1_2,pirsf_Dihydroorotate_DH_1_2,tigrfam_Dihydroorotate_DH_2 pfam_Dihydroorotate_DH_1_2,pirsf_Dihydroorotate_DH_1_2,tigrfam_Dihydroorotate_DH_2 - no_errors DHODH HGNC ENSG00000102967 66 0 0 47 14 22.9508 SDR42E1 0 genome.wustl.edu 37 16 82033056 82033056 + Missense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 16 82033056 82033056 C T SNP SDR42E1 ENST00000328945 human ensembl 74_37 -1 known missense c.842 p.R281H 1.000 pfam_3Beta_OHSteriod_DH/Estase pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like - no_errors SDR42E1 HGNC ENSG00000184860 130 0 0 109 9 7.62712 HSD17B2 0 genome.wustl.edu 37 16 82069222 82069222 + Missense_Mutation SNP T T G TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 16 82069222 82069222 T G SNP HSD17B2 ENST00000199936 human ensembl 74_37 +1 known missense c.193 p.C65G 0.133 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B2 HGNC ENSG00000086696 82 0 0 59 7 10.6061 IRF8 0 genome.wustl.edu 37 16 85952271 85952271 + Missense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 16 85952271 85952271 C T SNP IRF8 ENST00000268638 human ensembl 74_37 +1 known missense c.850 p.R284W 1.000 pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF8 HGNC ENSG00000140968 60 0 0 50 16 24.2424 DPEP1 0 genome.wustl.edu 37 16 89696881 89696881 + Silent SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 16 89696881 89696881 C T SNP DPEP1 ENST00000261615 human ensembl 74_37 +1 known silent c.63 p.D21 0.000 NULL pfam_Peptidase_M19 - no_errors DPEP1 HGNC ENSG00000015413 137 0 0 92 10 9.80392 DDX42 0 genome.wustl.edu 37 17 61886998 61886998 + Nonsense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 17 61886998 61886998 C T SNP DDX42 ENST00000389924 human ensembl 74_37 +1 known nonsense c.1231 p.R411* 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX42 HGNC ENSG00000198231 76 0 0 72 9 11.1111 KCNJ2 0 genome.wustl.edu 37 17 68171214 68171214 + Missense_Mutation SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 17 68171214 68171214 G A SNP KCNJ2 ENST00000243457 human ensembl 74_37 +1 known missense c.34 p.V12I 1.000 pfam_K_chnl_inward-rec_Kir_N pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.1 - no_errors KCNJ2 HGNC ENSG00000123700 81 0 0 49 9 15.5172 SSTR2 0 genome.wustl.edu 37 17 71166296 71166296 + Missense_Mutation SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 17 71166296 71166296 G A SNP SSTR2 ENST00000357585 human ensembl 74_37 +1 known missense c.838 p.V280I 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_2,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_Somatstn_rcpt_5 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_2,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt,prints_Somatstn_rcpt_5 - no_errors SSTR2 HGNC ENSG00000180616 145 0 0 108 12 10 CXXC1 0 genome.wustl.edu 37 18 47810386 47810386 + Missense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 18 47810386 47810386 C T SNP CXXC1 ENST00000412036 human ensembl 74_37 -1 known missense c.1303 p.E435K 1.000 pfam_CpG-bd_C pfam_CpG-bd_C,pfam_Znf_CXXC,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors CXXC1 HGNC ENSG00000154832 161 0 0 88 19 17.757 DNM2 0 genome.wustl.edu 37 19 10934546 10934546 + Nonsense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 19 10934546 10934546 C T SNP DNM2 ENST00000314646 human ensembl 74_37 +1 known nonsense c.1864 p.R622* 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF - no_errors DNM2 HGNC ENSG00000079805 92 0 0 58 8 12.1212 TCF3 0 genome.wustl.edu 37 19 1615407 1615407 + Missense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 19 1615407 1615407 C T SNP TCF3 ENST00000262965 human ensembl 74_37 -1 known missense c.1699 p.E567K 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF3 HGNC ENSG00000071564 181 0 0 95 26 21.4876 ZNF99 0 genome.wustl.edu 37 19 22941480 22941480 + Missense_Mutation SNP T T G TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 19 22941480 22941480 T G SNP ZNF99 ENST00000397104 human ensembl 74_37 -1 known missense c.958 p.K320Q 0.000 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 ZNF99 HGNC ENSG00000213973 55 0 0 40 11 21.5686 CEACAM19 0 genome.wustl.edu 37 19 45185867 45185867 + Missense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 19 45185867 45185867 C T SNP CEACAM19 ENST00000403660 human ensembl 74_37 +1 known missense c.821 p.A274V 0.083 NULL pfam_Ig_V-set - no_errors CEACAM19 HGNC ENSG00000186567 23 0 0 13 3 18.75 SIGLEC5 0 genome.wustl.edu 37 19 52129341 52129341 + Missense_Mutation SNP C C A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 19 52129341 52129341 C A SNP SIGLEC5 ENST00000222107 human ensembl 74_37 -1 known missense c.1408 p.A470S 0.000 NULL pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC5 HGNC ENSG00000105501 59 0 0 39 6 13.3333 ZNF578 0 genome.wustl.edu 37 19 53014774 53014774 + Silent SNP T T C TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 19 53014774 53014774 T C SNP ZNF578 ENST00000421239 human ensembl 74_37 +1 known silent c.1140 p.F380 0.003 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 ZNF578 HGNC ENSG00000258405 122 0 0 80 16 16.6667 ZNF845 0 genome.wustl.edu 37 19 53855747 53855747 + Missense_Mutation SNP T T C TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 19 53855747 53855747 T C SNP ZNF845 ENST00000458035 human ensembl 74_37 +1 known missense c.1819 p.Y607H 0.010 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 ZNF845 HGNC ENSG00000213799 30 0 0 14 6 30 NLRP2 0 genome.wustl.edu 37 19 55494431 55494431 + Silent SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 19 55494431 55494431 G A SNP NLRP2 ENST00000448584 human ensembl 74_37 +1 known silent c.1365 p.A455 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP2 HGNC ENSG00000022556 98 0 0 45 20 30.7692 MUC16 0 genome.wustl.edu 37 19 9072872 9072872 + Silent SNP T T C TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 19 9072872 9072872 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.14574 p.T4858 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 116 0 0 82 12 12.766 CNTNAP5 0 genome.wustl.edu 37 2 125521689 125521689 + Missense_Mutation SNP T T G TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 2 125521689 125521689 T G SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.2495 p.L832R 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,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 84 0 0 60 11 15.493 LRP1B 0 genome.wustl.edu 37 2 141598508 141598508 + Missense_Mutation SNP A A C TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 2 141598508 141598508 A C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.5093 p.L1698R 1.000 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 58 0 0 48 8 14.2857 RIF1 0 genome.wustl.edu 37 2 152300221 152300221 + Nonsense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 2 152300221 152300221 C T SNP RIF1 ENST00000243326 human ensembl 74_37 +1 known nonsense c.1984 p.Q662* 1.000 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 55 0 0 60 10 14.2857 DYNC1I2 0 genome.wustl.edu 37 2 172585298 172585298 + Silent SNP T T C TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 2 172585298 172585298 T C SNP DYNC1I2 ENST00000397119 human ensembl 74_37 +1 known silent c.1329 p.D443 0.997 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC ENSG00000077380 20 0 0 11 3 21.4286 TTN 0 genome.wustl.edu 37 2 179416514 179416514 + Nonsense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 2 179416514 179416514 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known nonsense c.83409 p.W27803* 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 150 0 0 107 26 19.5489 TTN 0 genome.wustl.edu 37 2 179444697 179444697 + Silent SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 2 179444697 179444697 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.59613 p.P19871 0.020 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,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 92 0 0 78 10 11.3636 TTN 0 genome.wustl.edu 37 2 179581872 179581872 + Missense_Mutation SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 2 179581872 179581872 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.21857 p.A7286V 0.994 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,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 46 0 0 38 4 9.52381 ANKRD44 0 genome.wustl.edu 37 2 197990134 197990134 + Missense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 2 197990134 197990134 C T SNP ANKRD44 ENST00000328737 human ensembl 74_37 -1 known missense c.446 p.R149Q 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD44 HGNC ENSG00000065413 74 0 0 58 5 7.93651 ABCA12 0 genome.wustl.edu 37 2 215843537 215843537 + Silent SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 2 215843537 215843537 G A SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known silent c.4968 p.T1656 0.348 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 101 0 0 72 13 15.2941 ESPNL 0 genome.wustl.edu 37 2 239038920 239038920 + Missense_Mutation SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 2 239038920 239038920 G A SNP ESPNL ENST00000343063 human ensembl 74_37 +1 known missense c.1565 p.R522H 0.994 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ESPNL HGNC ENSG00000144488 25 0 0 22 7 24.1379 NRXN1 0 genome.wustl.edu 37 2 51254932 51254932 + Silent SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 2 51254932 51254932 C T SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known silent c.480 p.P160 0.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 54 0 0 15 13 46.4286 PCYOX1 0 genome.wustl.edu 37 2 70486655 70486655 + Silent SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 2 70486655 70486655 C T SNP PCYOX1 ENST00000433351 human ensembl 74_37 +1 known silent c.276 p.I92 0.991 pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase,pirsf_Prenylcysteine_Oxase pfam_Prenylcys_lyase,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase,pirsf_Prenylcysteine_Oxase - no_errors PCYOX1 HGNC ENSG00000116005 344 0 0 240 42 14.8936 CCT7 0 genome.wustl.edu 37 2 73475031 73475031 + Missense_Mutation SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 2 73475031 73475031 G A SNP CCT7 ENST00000258091 human ensembl 74_37 +1 known missense c.760 p.E254K 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,tigrfam_Chap_CCT_eta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_eta - no_errors CCT7 HGNC ENSG00000135624 69 0 0 28 7 20 SEMA4F 0 genome.wustl.edu 37 2 74883792 74883792 + Missense_Mutation SNP T T C TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 2 74883792 74883792 T C SNP SEMA4F ENST00000357877 human ensembl 74_37 +1 known missense c.277 p.S93P 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA4F HGNC ENSG00000135622 109 0 0 86 16 15.6863 REG1P 0 genome.wustl.edu 37 2 79364432 79364432 + RNA SNP A A C TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 2 79364432 79364432 A C SNP REG1P ENST00000377435 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors REG1P HGNC ENSG00000204787 43 0 0 25 4 13.7931 LOC654342 0 genome.wustl.edu 37 2 91845772 91845772 + RNA SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 2 91845772 91845772 G A SNP LOC654342 ENST00000544283 human ensembl 74_37 -1 known rna NULL NULL 0.099 - - - no_errors AC027612.6 Clone_based_vega_gene ENSG00000143429 9 0 0 1 5 83.3333 ANKRD36C 0 genome.wustl.edu 37 2 96517882 96517882 + Silent SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 2 96517882 96517882 G A SNP ANKRD36C ENST00000456556 human ensembl 74_37 -1 known silent c.5211 p.D1737 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36C HGNC ENSG00000174501 24 0 0 36 6 14.2857 SDCBP2 0 genome.wustl.edu 37 20 1293318 1293318 + Missense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 20 1293318 1293318 C T SNP SDCBP2 ENST00000339987 human ensembl 74_37 -1 known missense c.473 p.R158H 0.794 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SDCBP2 HGNC ENSG00000125775 89 0 0 69 27 28.125 SEL1L2 0 genome.wustl.edu 37 20 13856737 13856737 + Missense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 20 13856737 13856737 C T SNP SEL1L2 ENST00000284951 human ensembl 74_37 -1 known missense c.1051 p.V351M 1.000 pfam_Sel1-like,smart_Sel1-like pfam_Sel1-like,smart_Sel1-like - no_errors SEL1L2 HGNC ENSG00000101251 145 0 0 171 11 6.04396 ZCCHC3 0 genome.wustl.edu 37 20 279294 279294 + Missense_Mutation SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 20 279294 279294 G A SNP ZCCHC3 ENST00000382352 human ensembl 74_37 +1 known missense c.1067 p.R356K 1.000 pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC3 HGNC ENSG00000177764 107 0 0 130 13 9.09091 L3MBTL1 0 genome.wustl.edu 37 20 42164925 42164925 + Missense_Mutation SNP A A G TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 20 42164925 42164925 A G SNP L3MBTL1 ENST00000418998 human ensembl 74_37 +1 known missense c.2048 p.H683R 1.000 NULL pfam_Mbt,pfam_Znf_C2HC,superfamily_SAM/pointed,smart_Mbt,pfscan_Mbt - no_errors L3MBTL1 HGNC ENSG00000185513 45 0 0 45 8 15.0943 SLC12A5 0 genome.wustl.edu 37 20 44666018 44666018 + Silent SNP C C A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 20 44666018 44666018 C A SNP SLC12A5 ENST00000454036 human ensembl 74_37 +1 known silent c.675 p.I225 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 46 0 0 44 5 10.2041 SLC12A5 0 genome.wustl.edu 37 20 44669249 44669249 + Missense_Mutation SNP T T G TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 20 44669249 44669249 T G SNP SLC12A5 ENST00000454036 human ensembl 74_37 +1 known missense c.919 p.F307V 1.000 prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 87 0 0 98 15 13.2743 EYA2 0 genome.wustl.edu 37 20 45812032 45812032 + Missense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 20 45812032 45812032 C T SNP EYA2 ENST00000327619 human ensembl 74_37 +1 known missense c.1529 p.A510V 0.992 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA2 HGNC ENSG00000064655 92 0 0 77 8 9.41176 GNAS 0 genome.wustl.edu 37 20 57428503 57428503 + Silent SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 20 57428503 57428503 C T SNP GNAS ENST00000371100 human ensembl 74_37 +1 putative silent c.183 p.V61 0.006 NULL pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GNAS HGNC ENSG00000087460 30 0 0 21 5 19.2308 ZNF831 0 genome.wustl.edu 37 20 57766605 57766605 + Silent SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 20 57766605 57766605 C T SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel silent c.531 p.C177 0.858 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 231 0 0 169 27 13.7755 CHRNA4 0 genome.wustl.edu 37 20 61981615 61981615 + Missense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 20 61981615 61981615 C T SNP CHRNA4 ENST00000370263 human ensembl 74_37 -1 known missense c.1148 p.R383H 0.330 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA4 HGNC ENSG00000101204 43 0 0 16 5 23.8095 DSCAM 0 genome.wustl.edu 37 21 41711215 41711215 + Silent SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 21 41711215 41711215 C T SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known silent c.1338 p.P446 0.006 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 98 0 0 42 19 31.1475 TRPM2 0 genome.wustl.edu 37 21 45811283 45811283 + Silent SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 21 45811283 45811283 C T SNP TRPM2 ENST00000300482 human ensembl 74_37 +1 known silent c.1569 p.Y523 0.014 NULL pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 182 0 0 107 17 13.7097 MICAL3 0 genome.wustl.edu 37 22 18300777 18300777 + Nonsense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 22 18300777 18300777 C T SNP MICAL3 ENST00000441493 human ensembl 74_37 -1 known nonsense c.4650 p.W1550* 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 48 0 0 24 8 25 GNB1L 0 genome.wustl.edu 37 22 19808157 19808157 + Nonsense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 22 19808157 19808157 C T SNP GNB1L ENST00000329517 human ensembl 74_37 -1 known nonsense c.218 p.W73* 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GNB1L HGNC ENSG00000185838 89 0 0 52 7 11.8644 PATZ1 0 genome.wustl.edu 37 22 31741404 31741404 + Missense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 22 31741404 31741404 C T SNP PATZ1 ENST00000266269 human ensembl 74_37 -1 known missense c.185 p.C62Y 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors PATZ1 HGNC ENSG00000100105 47 0 0 23 4 14.8148 FOXRED2 0 genome.wustl.edu 37 22 36892110 36892110 + Missense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 22 36892110 36892110 C T SNP FOXRED2 ENST00000216187 human ensembl 74_37 -1 known missense c.1528 p.V510I 0.979 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors FOXRED2 HGNC ENSG00000100350 99 0 0 57 8 12.3077 MKL1 0 genome.wustl.edu 37 22 40831511 40831511 + Missense_Mutation SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 22 40831511 40831511 G A SNP MKL1 ENST00000355630 human ensembl 74_37 -1 known missense c.55 p.R19W 1.000 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MKL1 HGNC ENSG00000196588 108 0 0 78 12 13.3333 ZC3H7B 0 genome.wustl.edu 37 22 41726091 41726091 + Missense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 22 41726091 41726091 C T SNP ZC3H7B ENST00000351589 human ensembl 74_37 +1 known missense c.509 p.A170V 0.998 NULL pfam_Znf_CCCH,pfam_TPR_1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ZC3H7B HGNC ENSG00000100403 85 0 0 57 13 18.5714 SBF1 0 genome.wustl.edu 37 22 50904463 50904463 + Missense_Mutation SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 22 50904463 50904463 G A SNP SBF1 ENST00000380817 human ensembl 74_37 -1 known missense c.938 p.T313I 0.922 NULL pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 162 0 0 144 19 11.6564 BBX 0 genome.wustl.edu 37 3 107492466 107492466 + Missense_Mutation SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 3 107492466 107492466 G A SNP BBX ENST00000325805 human ensembl 74_37 +1 known missense c.1898 p.R633Q 1.000 NULL pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors BBX HGNC ENSG00000114439 51 0 0 29 5 14.7059 STXBP5L 0 genome.wustl.edu 37 3 120673881 120673881 + Missense_Mutation SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 3 120673881 120673881 G A SNP STXBP5L ENST00000273666 human ensembl 74_37 +1 known missense c.284 p.R95Q 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5L HGNC ENSG00000145087 34 0 0 16 4 20 IGSF10 0 genome.wustl.edu 37 3 151164474 151164474 + Missense_Mutation SNP A A G TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 3 151164474 151164474 A G SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known missense c.3295 p.S1099P 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 165 0 0 146 21 12.5749 P2RY1 0 genome.wustl.edu 37 3 152554155 152554155 + Missense_Mutation SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 3 152554155 152554155 G A SNP P2RY1 ENST00000305097 human ensembl 74_37 +1 known missense c.584 p.R195H 0.164 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y1_rcpt,prints_GPCR_Rhodpsn - no_errors P2RY1 HGNC ENSG00000169860 137 0 0 97 14 12.6126 CHRD 0 genome.wustl.edu 37 3 184102983 184102983 + Missense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 3 184102983 184102983 C T SNP CHRD ENST00000204604 human ensembl 74_37 +1 known missense c.1775 p.T592M 0.570 pfam_CHRD,smart_CHRD,pirsf_Chordin,pfscan_CHRD pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C - no_errors CHRD HGNC ENSG00000090539 171 0 0 123 18 12.766 MUC4 0 genome.wustl.edu 37 3 195479288 195479288 + Missense_Mutation SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 3 195479288 195479288 G A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.15538 p.L5180F 0.665 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 106 0 0 79 5 5.95238 MUC4 0 genome.wustl.edu 37 3 195508174 195508174 + Missense_Mutation SNP G G T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 3 195508174 195508174 G T SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.10277 p.P3426H 0.275 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 15 0 0 18 3 14.2857 SDHAP1 0 genome.wustl.edu 37 3 195692349 195692349 + RNA SNP T T A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 3 195692349 195692349 T A SNP SDHAP1 ENST00000354559 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SDHAP1 HGNC ENSG00000185485 23 0 0 19 3 13.6364 KAT2B 0 genome.wustl.edu 37 3 20167554 20167554 + Missense_Mutation SNP A A G TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 3 20167554 20167554 A G SNP KAT2B ENST00000263754 human ensembl 74_37 +1 known missense c.1571 p.H524R 1.000 pirsf_Hist_acetylase_PCAF,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom - no_errors KAT2B HGNC ENSG00000114166 30 0 0 17 5 22.7273 STAB1 0 genome.wustl.edu 37 3 52548194 52548194 + Missense_Mutation SNP C C A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 3 52548194 52548194 C A SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known missense c.3511 p.R1171S 0.059 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 125 0 0 54 23 29.8701 SRGAP3 0 genome.wustl.edu 37 3 9166433 9166433 + Missense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 3 9166433 9166433 C T SNP SRGAP3 ENST00000383836 human ensembl 74_37 -1 known missense c.236 p.R79H 1.000 pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP3 HGNC ENSG00000196220 103 0 0 57 14 19.7183 OR5K1 0 genome.wustl.edu 37 3 98189089 98189089 + Silent SNP T T C TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 3 98189089 98189089 T C SNP OR5K1 ENST00000332650 human ensembl 74_37 +1 known silent c.669 p.L223 0.023 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5K1 HGNC ENSG00000232382 75 0 0 54 11 16.9231 DCBLD2 0 genome.wustl.edu 37 3 98541094 98541094 + Missense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 3 98541094 98541094 C T SNP DCBLD2 ENST00000326857 human ensembl 74_37 -1 known missense c.808 p.A270T 1.000 pfam_LCCL,superfamily_LCCL,smart_LCCL,pfscan_LCCL pfam_Coagulation_fac_5/8-C_type_dom,pfam_CUB_dom,pfam_LCCL,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_LCCL,smart_CUB_dom,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL - no_errors DCBLD2 HGNC ENSG00000057019 36 0 0 24 3 11.1111 FAT4 0 genome.wustl.edu 37 4 126355435 126355435 + Missense_Mutation SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 4 126355435 126355435 G A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.7054 p.V2352I 0.969 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 95 0 0 67 9 11.8421 PCDH10 0 genome.wustl.edu 37 4 134071538 134071538 + Silent SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 4 134071538 134071538 C T SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known silent c.243 p.R81 0.998 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 165 0 0 115 15 11.5385 PDE6B 0 genome.wustl.edu 37 4 629698 629698 + Silent SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 4 629698 629698 G A SNP PDE6B ENST00000496514 human ensembl 74_37 +1 known silent c.651 p.T217 0.066 smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6B HGNC ENSG00000133256 79 0 0 52 9 14.7541 EPHA5 0 genome.wustl.edu 37 4 66286260 66286260 + Missense_Mutation SNP T T C TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 4 66286260 66286260 T C SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known missense c.1426 p.K476E 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 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,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 37 0 0 60 8 11.7647 EPHA5 0 genome.wustl.edu 37 4 66356378 66356378 + Silent SNP G G T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 4 66356378 66356378 G T SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known silent c.1119 p.V373 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 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,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 56 0 0 49 8 14.0351 ACOX3 0 genome.wustl.edu 37 4 8398823 8398823 + Silent SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 4 8398823 8398823 C T SNP ACOX3 ENST00000356406 human ensembl 74_37 -1 known silent c.897 p.A299 0.002 superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_AcylCo_DH/oxidase_C,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase - no_errors ACOX3 HGNC ENSG00000087008 85 0 0 48 8 14.2857 SLC12A2 0 genome.wustl.edu 37 5 127522234 127522234 + Missense_Mutation SNP A A G TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 5 127522234 127522234 A G SNP SLC12A2 ENST00000262461 human ensembl 74_37 +1 known missense c.3550 p.M1184V 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt1,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A2 HGNC ENSG00000064651 122 1 0.813008 63 4 5.97015 DNAH5 0 genome.wustl.edu 37 5 13829731 13829731 + Missense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 5 13829731 13829731 C T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.6332 p.R2111H 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 123 0 0 73 45 38.1356 PCDHA8 0 genome.wustl.edu 37 5 140222280 140222280 + Silent SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 5 140222280 140222280 C T SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known silent c.1374 p.P458 0.001 superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 187 0 0 94 23 19.6581 PCDHB16 0 genome.wustl.edu 37 5 140564268 140564268 + Missense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 5 140564268 140564268 C T SNP PCDHB16 ENST00000361016 human ensembl 74_37 +1 known missense c.2134 p.R712W 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB16 HGNC ENSG00000196963 282 2 0.704225 135 26 16.1491 PCDHGA12 0 genome.wustl.edu 37 5 140812194 140812194 + Missense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 5 140812194 140812194 C T SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known missense c.1868 p.T623M 0.840 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 PCDHGA12 HGNC ENSG00000253159 139 0 0 74 25 25.2525 ATP10B 0 genome.wustl.edu 37 5 159992888 159992888 + Nonsense_Mutation SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 5 159992888 159992888 G A SNP ATP10B ENST00000327245 human ensembl 74_37 -1 known nonsense c.3958 p.Q1320* 0.859 tigrfam_ATPase_P-typ_Plipid-transp 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 ATP10B HGNC ENSG00000118322 106 0 0 50 12 19.3548 CDH12 0 genome.wustl.edu 37 5 21765106 21765106 + Missense_Mutation SNP T T C TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 5 21765106 21765106 T C SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known missense c.1496 p.E499G 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 108 0 0 82 11 11.828 C5orf38 0 genome.wustl.edu 37 5 2755204 2755204 + Missense_Mutation SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 5 2755204 2755204 G A SNP C5orf38 ENST00000397835 human ensembl 74_37 +1 putative missense c.395 p.R132Q 0.008 NULL NULL - no_errors C5orf38 HGNC ENSG00000186493 111 0 0 91 26 22.2222 ECHDC1 0 genome.wustl.edu 37 6 127648195 127648195 + Missense_Mutation SNP G G C TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 6 127648195 127648195 G C SNP ECHDC1 ENST00000531967 human ensembl 74_37 -1 known missense c.333 p.F111L 0.997 pfam_Crotonase_core_superfam pfam_Crotonase_core_superfam - no_errors ECHDC1 HGNC ENSG00000093144 89 0 0 60 11 15.493 SYNE1 0 genome.wustl.edu 37 6 152631626 152631626 + Missense_Mutation SNP T T G TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 6 152631626 152631626 T G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.16924 p.K5642Q 0.972 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 58 0 0 44 11 20 NKAPL 0 genome.wustl.edu 37 6 28227351 28227351 + Missense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 6 28227351 28227351 C T SNP NKAPL ENST00000343684 human ensembl 74_37 +1 known missense c.202 p.R68C 0.000 NULL pfam_DUF926 - no_errors NKAPL HGNC ENSG00000189134 107 0 0 65 9 12.1622 TCF19 0 genome.wustl.edu 37 6 31130593 31130593 + RNA SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 6 31130593 31130593 G A SNP TCF19 ENST00000496421 human ensembl 74_37 +1 putative rna NULL NULL 0.726 - - - no_errors TCF19 HGNC ENSG00000137310 10 0 0 7 6 46.1538 DST 0 genome.wustl.edu 37 6 56471761 56471761 + Missense_Mutation SNP T T A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 6 56471761 56471761 T A SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.7566 p.E2522D 0.005 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 78 0 0 52 7 11.8644 HTR1E 0 genome.wustl.edu 37 6 87725622 87725622 + Silent SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 6 87725622 87725622 G A SNP HTR1E ENST00000305344 human ensembl 74_37 +1 known silent c.570 p.A190 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR1E HGNC ENSG00000168830 95 0 0 59 13 18.0556 GRM8 0 genome.wustl.edu 37 7 126086219 126086219 + Missense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 7 126086219 126086219 C T SNP GRM8 ENST00000339582 human ensembl 74_37 -1 known missense c.2638 p.E880K 1.000 prints_GPCR_3_mtglu_rcpt_4 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C - no_errors GRM8 HGNC ENSG00000179603 114 0 0 75 16 17.5824 CHRM2 0 genome.wustl.edu 37 7 136700439 136700439 + Missense_Mutation SNP A A G TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 7 136700439 136700439 A G SNP CHRM2 ENST00000320658 human ensembl 74_37 +1 known missense c.827 p.Q276R 0.965 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM2 HGNC ENSG00000181072 88 0 0 61 12 16.4384 UBN2 0 genome.wustl.edu 37 7 138968977 138968977 + Missense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 7 138968977 138968977 C T SNP UBN2 ENST00000473989 human ensembl 74_37 +1 known missense c.3326 p.P1109L 0.997 NULL NULL - no_errors UBN2 HGNC ENSG00000157741 125 0 0 91 7 7.14286 FASTK 0 genome.wustl.edu 37 7 150776935 150776935 + Missense_Mutation SNP G G C TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 7 150776935 150776935 G C SNP FASTK ENST00000297532 human ensembl 74_37 -1 known missense c.157 p.L53V 1.000 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTK HGNC ENSG00000164896 20 0 0 11 6 35.2941 HOXA9 0 genome.wustl.edu 37 7 27204564 27204564 + Silent SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 7 27204564 27204564 G A SNP HOXA9 ENST00000343483 human ensembl 74_37 -1 known silent c.513 p.S171 1.000 pfam_Hox9_activation_N,pirsf_Homeobox_Hox9 pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXA9 HGNC ENSG00000078399 67 0 0 32 16 33.3333 GLI3 0 genome.wustl.edu 37 7 42088263 42088263 + Missense_Mutation SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 7 42088263 42088263 G A SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.506 p.P169L 0.933 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 63 0 0 45 13 22.4138 CHCHD2 0 genome.wustl.edu 37 7 56170694 56170694 + Missense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 7 56170694 56170694 C T SNP CHCHD2 ENST00000395422 human ensembl 74_37 -1 known missense c.311 p.G104E 0.943 NULL pfam_CHCH - no_errors CHCHD2 HGNC ENSG00000106153 58 0 0 54 9 14.2857 RNF216 0 genome.wustl.edu 37 7 5769126 5769126 + Silent SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 7 5769126 5769126 G A SNP RNF216 ENST00000389902 human ensembl 74_37 -1 known silent c.1326 p.L442 1.000 NULL smart_Znf_C6HC - no_errors RNF216 HGNC ENSG00000011275 142 1 0.699301 88 18 16.9811 EIF2AK1 0 genome.wustl.edu 37 7 6066556 6066556 + Missense_Mutation SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 7 6066556 6066556 G A SNP EIF2AK1 ENST00000199389 human ensembl 74_37 -1 known missense c.1567 p.L523F 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 EIF2AK1 HGNC ENSG00000086232 129 0 0 98 15 13.2743 RIMS2 0 genome.wustl.edu 37 8 104898096 104898096 + Silent SNP T T C TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 8 104898096 104898096 T C SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known silent c.1269 p.S423 0.998 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 79 0 0 56 24 30 SOX7 0 genome.wustl.edu 37 8 10584132 10584132 + Missense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 8 10584132 10584132 C T SNP SOX7 ENST00000553390 human ensembl 74_37 -1 known missense c.439 p.V147M 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,pfscan_HMG_box_dom pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_box_dom - no_errors SOX7 HGNC ENSG00000171056 79 0 0 45 16 26.2295 TBC1D31 0 genome.wustl.edu 37 8 124096454 124096454 + Silent SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 8 124096454 124096454 G A SNP TBC1D31 ENST00000287380 human ensembl 74_37 +1 known silent c.393 p.S131 0.235 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom - no_errors TBC1D31 HGNC ENSG00000156787 136 0 0 128 37 22.4242 KIAA0196 0 genome.wustl.edu 37 8 126056089 126056089 + Missense_Mutation SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 8 126056089 126056089 G A SNP KIAA0196 ENST00000318410 human ensembl 74_37 -1 known missense c.2828 p.A943V 0.952 pfam_WASH_strumpellin pfam_WASH_strumpellin,superfamily_Ig_E-set - no_errors KIAA0196 HGNC ENSG00000164961 40 0 0 42 5 10.6383 COL22A1 0 genome.wustl.edu 37 8 139890073 139890073 + Missense_Mutation SNP T T C TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 8 139890073 139890073 T C SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known missense c.578 p.K193R 0.998 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 74 0 0 60 11 15.493 GPR20 0 genome.wustl.edu 37 8 142367371 142367371 + Missense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 8 142367371 142367371 C T SNP GPR20 ENST00000377741 human ensembl 74_37 -1 known missense c.653 p.R218H 0.136 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR20 HGNC ENSG00000204882 10 0 0 10 5 33.3333 NAPRT1 0 genome.wustl.edu 37 8 144659014 144659014 + Splice_Site SNP T T A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 8 144659014 144659014 T A SNP NAPRT1 ENST00000276844 human ensembl 74_37 -1 known splice_site c.685-2 e6-2 0.917 - - - no_errors NAPRT1 HGNC ENSG00000147813 28 0 0 21 14 40 PRKDC 0 genome.wustl.edu 37 8 48842451 48842451 + Missense_Mutation SNP T T C TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 8 48842451 48842451 T C SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.2014 p.I672V 0.859 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 40 0 0 49 8 14.0351 PXDNL 0 genome.wustl.edu 37 8 52370223 52370223 + Missense_Mutation SNP A A G TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 8 52370223 52370223 A G SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.817 p.S273P 0.999 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 122 0 0 77 52 40.3101 PREX2 0 genome.wustl.edu 37 8 68864659 68864659 + Silent SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 8 68864659 68864659 C T SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known silent c.30 p.R10 1.000 superfamily_DH-domain pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 13 0 0 4 6 60 SULF1 0 genome.wustl.edu 37 8 70515528 70515528 + Missense_Mutation SNP T T C TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 8 70515528 70515528 T C SNP SULF1 ENST00000260128 human ensembl 74_37 +1 known missense c.1163 p.L388P 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 154 1 0.645161 105 67 38.9535 MSC 0 genome.wustl.edu 37 8 72754837 72754837 + RNA SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 8 72754837 72754837 C T SNP MSC ENST00000518440 human ensembl 74_37 -1 putative rna NULL NULL 0.065 - - - no_errors MSC HGNC ENSG00000178860 346 0 0 341 55 13.8889 SLC26A7 0 genome.wustl.edu 37 8 92407455 92407455 + RNA SNP T T A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 8 92407455 92407455 T A SNP SLC26A7 ENST00000520249 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors SLC26A7 HGNC ENSG00000147606 40 0 0 28 6 17.6471 BARHL1 0 genome.wustl.edu 37 9 135458231 135458231 + Missense_Mutation SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 9 135458231 135458231 G A SNP BARHL1 ENST00000263610 human ensembl 74_37 +1 known missense c.47 p.R16H 0.998 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors BARHL1 HGNC ENSG00000125492 134 0 0 82 17 17.1717 C9orf116 0 genome.wustl.edu 37 9 138387363 138387363 + Missense_Mutation SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 9 138387363 138387363 G A SNP C9orf116 ENST00000371789 human ensembl 74_37 -1 known missense c.275 p.S92L 0.000 NULL NULL - no_errors C9orf116 HGNC ENSG00000160345 107 0 0 66 11 14.2857 LOC100996870 0 genome.wustl.edu 37 9 66459924 66459924 + RNA SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 9 66459924 66459924 C T SNP LOC100996870 ENST00000424345 human ensembl 74_37 +1 known rna NULL NULL 0.017 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 15 0 0 9 3 25 ROR2 0 genome.wustl.edu 37 9 94493380 94493380 + Missense_Mutation SNP T T A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 9 94493380 94493380 T A SNP ROR2 ENST00000375708 human ensembl 74_37 -1 known missense c.995 p.K332M 1.000 pirsf_Tyr_kinase_rcpt_ROR,pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors ROR2 HGNC ENSG00000169071 111 0 0 92 13 12.381 ENSG00000238421 0 genome.wustl.edu 37 GL000192.1 545095 545095 + RNA SNP G G C TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 GL000192.1 545095 545095 G C SNP ENSG00000238421 ENST00000459549 human ensembl 74_37 -1 novel rna NULL NULL NULL - - - no_errors U1 RFAM ENSG00000238421 12 0 0 13 4 23.5294 ENSG00000264001 0 genome.wustl.edu 37 GL000230.1 19124 19124 + RNA SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 GL000230.1 19124 19124 G A SNP ENSG00000264001 ENST00000585288 human ensembl 74_37 +1 novel rna NULL NULL NULL - - - no_errors CT867976.3 Clone_based_ensembl_gene ENSG00000264001 9 0 0 2 2 50 MT-TF 0 genome.wustl.edu 37 MT 634 634 + RNA SNP T T C TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 MT 634 634 T C SNP MT-TF ENST00000387314 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-TF HGNC ENSG00000210049 595 0 0 84 70 45.4545 KIAA1210 0 genome.wustl.edu 37 X 118239097 118239097 + Missense_Mutation SNP C C T TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 X 118239097 118239097 C T SNP KIAA1210 ENST00000402510 human ensembl 74_37 -1 known missense c.926 p.R309H 0.000 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 105 0 0 48 24 33.3333 GPR112 0 genome.wustl.edu 37 X 135430104 135430104 + Silent SNP T T G TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 X 135430104 135430104 T G SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known silent c.4239 p.T1413 0.567 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 82 0 0 45 24 34.7826 UBL4A 0 genome.wustl.edu 37 X 153713953 153713953 + Silent SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 X 153713953 153713953 G A SNP UBL4A ENST00000369660 human ensembl 74_37 -1 known silent c.399 p.D133 1.000 NULL pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBL4A HGNC ENSG00000102178 96 0 0 60 33 35.4839 KLHL34 0 genome.wustl.edu 37 X 21675868 21675868 + Silent SNP G G A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 X 21675868 21675868 G A SNP KLHL34 ENST00000379499 human ensembl 74_37 -1 known silent c.39 p.G13 0.997 superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL34 HGNC ENSG00000185915 39 0 0 22 4 15.3846 FAM104B 0 genome.wustl.edu 37 X 55185632 55185632 + Missense_Mutation SNP C C A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 X 55185632 55185632 C A SNP FAM104B ENST00000332132 human ensembl 74_37 -1 known missense c.50 p.G17V 0.001 NULL NULL - no_errors FAM104B HGNC ENSG00000182518 34 0 0 18 3 14.2857 NAP1L3 0 genome.wustl.edu 37 X 92926799 92926799 + Missense_Mutation SNP T T C TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 X 92926799 92926799 T C SNP NAP1L3 ENST00000373079 human ensembl 74_37 -1 known missense c.1505 p.K502R 0.003 NULL pfam_NAP_family - no_errors NAP1L3 HGNC ENSG00000186310 19 0 0 6 3 33.3333 TMEM82 0 genome.wustl.edu 37 1 16070918 16070918 + Frame_Shift_Del DEL C C - TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 1 16070918 16070918 C - DEL TMEM82 ENST00000375782 human ensembl 74_37 +1 known frame_shift_del c.600 p.Q202fs 0.901 NULL NULL - no_errors TMEM82 HGNC ENSG00000162460 21 0 0 16 2 11.1111 MUC6 0 genome.wustl.edu 37 11 1016296 1016305 + Frame_Shift_Del DEL GGGCGGACAC GGGCGGACAC - TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 GGGCGGACAC GGGCGGACAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 11 1016296 1016305 GGGCGGACAC - DEL MUC6 ENST00000421673 human ensembl 74_37 -1 known frame_shift_del c.6505_6496 p.V2166fs 0.000:0.000:0.000:0.000:0.000:0.003:0.000:0.001:0.000:0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 34 0 0 24 5 17.2414 PTHLH 0 genome.wustl.edu 37 12 28114898 28114898 + Frame_Shift_Del DEL T T - TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 12 28114898 28114898 T - DEL PTHLH ENST00000354417 human ensembl 74_37 -1 known frame_shift_del c.557 p.K186fs 0.135 NULL pfam_PTH/PTH-rel,smart_PTH/PTH-rel - no_errors PTHLH HGNC ENSG00000087494 14 0 0 12 3 20 TP53 0 genome.wustl.edu 37 17 7576928 7576928 + Splice_Site DEL T T - TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 17 7576928 7576928 T - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known splice_site_del c.920-2 e8-2 0.960 - - - no_errors TP53 HGNC ENSG00000141510 99 0 0 52 19 26.7606 C2orf76 0 genome.wustl.edu 37 2 120069281 120069282 + Splice_Site INS - - A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 2 120069281 120069282 - A INS C2orf76 ENST00000334816 human ensembl 74_37 -1 known splice_site_ins c.223-3_223-2 e4-2 0.984:0.405 - - - no_errors C2orf76 HGNC ENSG00000186132 29 0 0 22 2 8.33333 REV3L 0 genome.wustl.edu 37 6 111688795 111688796 + Frame_Shift_Ins INS - - A TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 6 111688795 111688796 - A INS REV3L ENST00000358835 human ensembl 74_37 -1 known frame_shift_ins c.6196_6195 p.T2065fs 1.000:0.992 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 171 0 0 110 20 15.3846 MT-ND5 0 genome.wustl.edu 37 MT 12418 12418 + Frame_Shift_Del DEL A A - TCGA-HU-A4GC-01A-12D-A25D-08 TCGA-HU-A4GC-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq df673ef5-5935-432a-923c-963d4727b36c 91d82e57-a018-445f-adb3-f60013cf42c5 MT 12418 12418 A - DEL MT-ND5 ENST00000361567 human ensembl 74_37 +1 known frame_shift_del c.82 p.N30fs NULL tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 583 1 0.171233 107 54 33.5404