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 A1BG 0 genome.wustl.edu 37 19 58862850 58862850 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 19 58862850 58862850 C T SNP A1BG ENST00000263100 human ensembl 74_37 -1 known missense c.817 p.D273N 0.003 smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors A1BG HGNC ENSG00000121410 tier1 - - 106 0 0.00 125 89 41.59 ABCA7 0 genome.wustl.edu 37 19 1047344 1047344 + Silent SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 19 1047344 1047344 G A SNP ABCA7 ENST00000263094 human ensembl 74_37 +1 known silent c.2034 p.R678 0.994 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA7 HGNC ENSG00000064687 tier1 - - 34 0 0.00 20 14 41.18 ACKR2 0 genome.wustl.edu 37 3 42906640 42906640 + Missense_Mutation SNP C C A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 3 42906640 42906640 C A SNP ACKR2 ENST00000273145 human ensembl 74_37 +1 known missense c.646 p.L216I 0.005 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_ATII_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_ATII_rcpt,prints_Chemokine_CXCR4 - no_errors ACKR2 HGNC ENSG00000144648 tier1 - - 240 0 0.00 147 81 35.53 ADIPOR2 0 genome.wustl.edu 37 12 1890115 1890115 + Silent SNP T T C TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 12 1890115 1890115 T C SNP ADIPOR2 ENST00000357103 human ensembl 74_37 +1 known silent c.711 p.Y237 1.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors ADIPOR2 HGNC ENSG00000006831 tier1 - - 188 0 0.00 106 66 38.37 ADNP 0 genome.wustl.edu 37 20 49508238 49508238 + Missense_Mutation SNP C C A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 20 49508238 49508238 C A SNP ADNP ENST00000349014 human ensembl 74_37 -1 known missense c.3013 p.D1005Y 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP HGNC ENSG00000101126 tier1 - - 144 0 0.00 106 64 37.65 AGTPBP1 0 genome.wustl.edu 37 9 88247592 88247592 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 9 88247592 88247592 G A SNP AGTPBP1 ENST00000376109 human ensembl 74_37 -1 known missense c.2036 p.P679L 1.000 NULL pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGTPBP1 HGNC ENSG00000135049 tier1 - - 75 0 0.00 81 7 7.95 AHNAK2 0 genome.wustl.edu 37 14 105413513 105413513 + Missense_Mutation SNP C C A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 14 105413513 105413513 C A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.8275 p.D2759Y 0.209 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 tier1 - - 389 0 0.00 188 98 34.15 AHRR 0 genome.wustl.edu 37 5 353860 353860 + Silent SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 5 353860 353860 G A SNP AHRR ENST00000316418 human ensembl 74_37 +1 known silent c.90 p.G30 0.016 pfscan_bHLH_dom pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors AHRR HGNC ENSG00000063438 tier1 - - 80 0 0.00 68 5 6.76 ANP32A 0 genome.wustl.edu 37 15 69072347 69072347 + RNA DEL G G - TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 15 69072347 69072347 G - DEL ANP32A ENST00000267918 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ANP32A HGNC ENSG00000140350 tier1 23 0 0.00 9 3 25.00 AOX1 0 genome.wustl.edu 37 2 201468739 201468739 + Splice_Site SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 2 201468739 201468739 G A SNP AOX1 ENST00000374700 human ensembl 74_37 +1 known splice_site c.589-1 e8-1 0.990 - - - no_errors AOX1 HGNC ENSG00000138356 tier1 - - 60 0 0.00 83 33 28.45 ARHGAP20 0 genome.wustl.edu 37 11 110485314 110485314 + Missense_Mutation SNP A A C TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 11 110485314 110485314 A C SNP ARHGAP20 ENST00000260283 human ensembl 74_37 -1 known missense c.601 p.F201V 1.000 pfam_Ras-assoc,pfscan_Ras-assoc 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 tier1 - - 120 0 0.00 87 40 31.50 ARHGAP5 0 genome.wustl.edu 37 14 32561296 32561296 + Missense_Mutation SNP T T C TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 14 32561296 32561296 T C SNP ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known missense c.1421 p.V474A 1.000 superfamily_FF_domain,smart_FF_domain pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 tier1 rs200111638 - 141 0 0.00 188 17 8.25 ARHGAP5 0 genome.wustl.edu 37 14 32561313 32561313 + Nonsense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 14 32561313 32561313 C T SNP ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known nonsense c.1438 p.R480* 1.000 superfamily_FF_domain,smart_FF_domain pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 tier1 rs201986816 - 130 0 0.00 174 27 13.43 ARHGAP5 0 genome.wustl.edu 37 14 32561316 32561316 + Nonsense_Mutation SNP G G T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 14 32561316 32561316 G T SNP ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known nonsense c.1441 p.E481* 1.000 superfamily_FF_domain,smart_FF_domain pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 tier1 rs200628183 - 129 0 0.00 162 29 15.18 ARHGAP5 0 genome.wustl.edu 37 14 32561340 32561340 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 14 32561340 32561340 G A SNP ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known missense c.1465 p.E489K 1.000 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 tier1 rs78337553 - 104 0 0.00 135 30 17.96 ARMC4 0 genome.wustl.edu 37 10 28233856 28233856 + Silent SNP A A G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 10 28233856 28233856 A G SNP ARMC4 ENST00000305242 human ensembl 74_37 -1 known silent c.1422 p.C474 0.891 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 tier1 - - 117 0 0.00 51 41 44.57 ATP10A 0 genome.wustl.edu 37 15 25925360 25925360 + Silent SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 15 25925360 25925360 C T SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known silent c.3774 p.P1258 0.940 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 ATP10A HGNC ENSG00000206190 tier1 - - 204 0 0.00 150 65 30.23 AXIN1 0 genome.wustl.edu 37 16 347814 347814 + Nonsense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 16 347814 347814 C T SNP AXIN1 ENST00000262320 human ensembl 74_37 -1 known nonsense c.1692 p.W564* 1.000 NULL pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN1 HGNC ENSG00000103126 tier1 - - 44 0 0.00 11 10 47.62 C11orf95 0 genome.wustl.edu 37 11 63533335 63533337 + RNA DEL TCC TCC - TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 11 63533335 63533337 TCC - DEL C11orf95 ENST00000338498 human ensembl 74_37 -1 known rna NULL NULL 0.630:0.736:0.723 - - - no_errors C11orf95 HGNC ENSG00000188070 tier1 8 0 0.00 4 2 33.33 C14orf177 0 genome.wustl.edu 37 14 99183532 99183532 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 14 99183532 99183532 C T SNP C14orf177 ENST00000325812 human ensembl 74_37 +1 known missense c.299 p.S100L 0.005 NULL NULL - no_errors C14orf177 HGNC ENSG00000176605 tier1 rs143969442 - 100 0 0.00 88 7 7.37 C1QL4 0 genome.wustl.edu 37 12 49729919 49729919 + Silent SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 12 49729919 49729919 C T SNP C1QL4 ENST00000334221 human ensembl 74_37 -1 known silent c.342 p.A114 0.177 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QL4 HGNC ENSG00000186897 tier1 - - 37 0 0.00 26 23 46.94 C7orf33 0 genome.wustl.edu 37 7 148288045 148288045 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 7 148288045 148288045 C T SNP C7orf33 ENST00000307003 human ensembl 74_37 +1 known missense c.28 p.L10F 0.003 NULL NULL - no_errors C7orf33 HGNC ENSG00000170279 tier1 - - 86 0 0.00 49 18 26.87 C8orf34 0 genome.wustl.edu 37 8 69552617 69552617 + Missense_Mutation SNP T T C TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 8 69552617 69552617 T C SNP C8orf34 ENST00000518698 human ensembl 74_37 +1 known missense c.1112 p.L371P 1.000 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C8orf34 HGNC ENSG00000165084 tier1 - - 76 0 0.00 47 30 38.96 CCDC173 0 genome.wustl.edu 37 2 170531264 170531264 + Missense_Mutation SNP T T G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 2 170531264 170531264 T G SNP CCDC173 ENST00000447353 human ensembl 74_37 -1 known missense c.484 p.S162R 1.000 NULL NULL - no_errors CCDC173 HGNC ENSG00000154479 tier1 - - 25 0 0.00 17 14 45.16 CCDC178 0 genome.wustl.edu 37 18 30950133 30950133 + Missense_Mutation SNP A A C TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 18 30950133 30950133 A C SNP CCDC178 ENST00000406524 human ensembl 74_37 -1 known missense c.229 p.F77V 0.962 NULL NULL - no_errors CCDC178 HGNC ENSG00000166960 tier1 - - 49 0 0.00 11 19 63.33 CCT7 0 genome.wustl.edu 37 2 73477515 73477515 + Silent SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 2 73477515 73477515 G A SNP CCT7 ENST00000258091 human ensembl 74_37 +1 known silent c.1152 p.E384 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,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 tier1 - - 195 0 0.00 114 56 32.94 CD1C 0 genome.wustl.edu 37 1 158262019 158262019 + Missense_Mutation SNP G G T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 158262019 158262019 G T SNP CD1C ENST00000368170 human ensembl 74_37 +1 known missense c.474 p.L158F 0.000 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1C HGNC ENSG00000158481 tier1 - - 350 0 0.00 233 143 38.03 CD74 0 genome.wustl.edu 37 5 149786487 149786487 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 5 149786487 149786487 G A SNP CD74 ENST00000009530 human ensembl 74_37 -1 known missense c.335 p.P112L 0.553 pfam_MHC_II-assoc_invar/CLIP_MHC-bd,pirsf_MHC_II-assoc_invar_chain,prints_MHC_II-assoc_invar_chain pfam_MHC_II-assoc_invar/CLIP_MHC-bd,pfam_MHC_II-assoc_invariant_trimer,pfam_Thyroglobulin_1,superfamily_MHC_II-assoc_invariant_trimer,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_MHC_II-assoc_invar_chain,pfscan_Thyroglobulin_1,prints_MHC_II-assoc_invar_chain - no_errors CD74 HGNC ENSG00000019582 tier1 - - 14 0 0.00 10 9 47.37 CD97 0 genome.wustl.edu 37 19 14507981 14507981 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 19 14507981 14507981 G A SNP CD97 ENST00000242786 human ensembl 74_37 +1 known missense c.571 p.G191S 0.966 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt - no_errors CD97 HGNC ENSG00000123146 tier1 - - 196 0 0.00 125 63 33.51 CDH12 0 genome.wustl.edu 37 5 21755708 21755708 + Missense_Mutation SNP A A T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 5 21755708 21755708 A T SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known missense c.1877 p.I626K 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 tier1 - - 63 0 0.00 41 6 12.77 CDH12 0 genome.wustl.edu 37 5 21755928 21755928 + Nonsense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 5 21755928 21755928 G A SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known nonsense c.1657 p.R553* 0.986 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 tier1 - - 119 0 0.00 21 105 82.68 CDH23 0 genome.wustl.edu 37 10 73326592 73326592 + Missense_Mutation SNP T T A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 10 73326592 73326592 T A SNP CDH23 ENST00000461841 human ensembl 74_37 +1 known missense c.658 p.S220T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 50 0 0.00 34 4 10.53 CELSR2 0 genome.wustl.edu 37 1 109795735 109795735 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 109795735 109795735 C T SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.3034 p.R1012C 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 tier1 - - 101 0 0.00 76 51 40.16 CHAF1A 0 genome.wustl.edu 37 19 4432024 4432024 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 19 4432024 4432024 G A SNP CHAF1A ENST00000301280 human ensembl 74_37 +1 known missense c.2023 p.G675R 1.000 NULL pfam_CAF1A - no_errors CHAF1A HGNC ENSG00000167670 tier1 - - 157 0 0.00 90 56 38.36 CLNK 0 genome.wustl.edu 37 4 10599604 10599605 + Frame_Shift_Ins INS - - T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 4 10599604 10599605 - T INS CLNK ENST00000226951 human ensembl 74_37 -1 known frame_shift_ins c.81_80 p.N27fs 0.904:0.918 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors CLNK HGNC ENSG00000109684 tier1 12 0 0.00 8 2 20.00 CNTLN 0 genome.wustl.edu 37 9 17330727 17330727 + Missense_Mutation SNP A A C TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 9 17330727 17330727 A C SNP CNTLN ENST00000380647 human ensembl 74_37 +1 known missense c.1439 p.E480A 0.997 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 tier1 - - 221 0 0.00 114 7 5.79 CPAMD8 0 genome.wustl.edu 37 19 17025610 17025610 + Missense_Mutation SNP C C G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 19 17025610 17025610 C G SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known missense c.3784 p.V1262L 1.000 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 tier1 - - 51 0 0.00 43 30 41.10 CREBBP 0 genome.wustl.edu 37 16 3807913 3807913 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 16 3807913 3807913 C T SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known missense c.3506 p.R1169H 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 tier1 - - 128 0 0.00 24 53 67.09 DEDD 0 genome.wustl.edu 37 1 161092113 161092113 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 161092113 161092113 G A SNP DEDD ENST00000368005 human ensembl 74_37 -1 known missense c.871 p.R291C 1.000 NULL pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED - no_errors DEDD HGNC ENSG00000158796 tier1 - - 108 0 0.00 59 54 47.79 DNAI2 0 genome.wustl.edu 37 17 72308268 72308268 + Missense_Mutation SNP C C G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 17 72308268 72308268 C G SNP DNAI2 ENST00000311014 human ensembl 74_37 +1 known missense c.1621 p.L541V 0.001 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DNAI2 HGNC ENSG00000171595 tier1 - - 32 0 0.00 34 12 25.53 DOCK4 0 genome.wustl.edu 37 7 111377017 111377017 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 7 111377017 111377017 C T SNP DOCK4 ENST00000428084 human ensembl 74_37 -1 known missense c.5261 p.G1754E 0.714 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 tier1 - - 21 0 0.00 12 6 33.33 DSCAML1 0 genome.wustl.edu 37 11 117306508 117306508 + Missense_Mutation SNP A A C TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 11 117306508 117306508 A C SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known missense c.4908 p.I1636M 1.000 NULL 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 tier1 - - 124 0 0.00 73 47 39.17 DYNC2H1 0 genome.wustl.edu 37 11 103175351 103175351 + Missense_Mutation SNP T T G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 11 103175351 103175351 T G SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.11305 p.L3769V 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 tier1 - - 48 0 0.00 40 27 40.30 EMILIN2 0 genome.wustl.edu 37 18 2890589 2890589 + Missense_Mutation SNP G G T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 18 2890589 2890589 G T SNP EMILIN2 ENST00000254528 human ensembl 74_37 +1 known missense c.464 p.R155M 0.988 NULL pfam_EMI_domain,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN2 HGNC ENSG00000132205 tier1 - - 99 0 0.00 56 64 53.33 ENSG00000234978 0 genome.wustl.edu 37 1 142803892 142803892 + RNA SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 142803892 142803892 G A SNP ENSG00000234978 ENST00000423385 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-423O2.5 Clone_based_vega_gene ENSG00000234978 tier1 - - 10 0 0.00 7 5 41.67 ENSG00000261727 0 genome.wustl.edu 37 16 32095619 32095619 + RNA SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 16 32095619 32095619 G A SNP ENSG00000261727 ENST00000566806 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-1166P10.6 Clone_based_vega_gene ENSG00000261727 tier1 - - 33 0 0.00 27 6 18.18 EPHA3 0 genome.wustl.edu 37 3 89259055 89259055 + Missense_Mutation SNP A A G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 3 89259055 89259055 A G SNP EPHA3 ENST00000336596 human ensembl 74_37 +1 known missense c.199 p.T67A 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA3 HGNC ENSG00000044524 tier1 - - 54 0 0.00 33 14 29.79 EPHB1 0 genome.wustl.edu 37 3 134873017 134873017 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 3 134873017 134873017 C T SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known missense c.1321 p.H441Y 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 tier1 - - 293 0 0.00 155 96 38.25 ETV4 0 genome.wustl.edu 37 17 41606053 41606053 + Missense_Mutation SNP A A G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 17 41606053 41606053 A G SNP ETV4 ENST00000319349 human ensembl 74_37 -1 known missense c.1289 p.L430S 1.000 NULL pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,prints_Ets_dom,pfscan_Ets_dom - no_errors ETV4 HGNC ENSG00000175832 tier1 - - 97 0 0.00 57 23 28.75 EXD3 0 genome.wustl.edu 37 9 140242607 140242607 + Silent SNP C C A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 9 140242607 140242607 C A SNP EXD3 ENST00000340951 human ensembl 74_37 -1 known silent c.1914 p.L638 1.000 pfam_Mut7-C_RNAse_dom pfam_Mut7-C_RNAse_dom,pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD3 HGNC ENSG00000187609 tier1 - - 27 0 0.00 21 11 34.38 EXO1 0 genome.wustl.edu 37 1 242035502 242035502 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 242035502 242035502 C T SNP EXO1 ENST00000348581 human ensembl 74_37 +1 known missense c.1436 p.T479M 0.000 NULL pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors EXO1 HGNC ENSG00000174371 tier1 - - 118 0 0.00 103 7 6.36 FANCM 0 genome.wustl.edu 37 14 45650671 45650671 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 14 45650671 45650671 G A SNP FANCM ENST00000267430 human ensembl 74_37 +1 known missense c.4261 p.E1421K 0.980 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 tier1 - - 94 0 0.00 94 37 28.24 FAT2 0 genome.wustl.edu 37 5 150889712 150889712 + Nonsense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 5 150889712 150889712 G A SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known nonsense c.11929 p.Q3977* 0.001 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 tier1 - - 218 0 0.00 93 37 28.46 FAT2 0 genome.wustl.edu 37 5 150924479 150924479 + Missense_Mutation SNP A A T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 5 150924479 150924479 A T SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.6209 p.F2070Y 0.987 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 tier1 - - 115 0 0.00 65 45 40.91 FGA 0 genome.wustl.edu 37 4 155510669 155510669 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 4 155510669 155510669 C T SNP FGA ENST00000302053 human ensembl 74_37 -1 known missense c.100 p.V34M 0.004 NULL pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FGA HGNC ENSG00000171560 tier1 - - 165 0 0.00 107 7 6.14 FGD4 0 genome.wustl.edu 37 12 32772670 32772670 + Silent SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 12 32772670 32772670 C T SNP FGD4 ENST00000427716 human ensembl 74_37 +1 known silent c.1377 p.S459 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD4 HGNC ENSG00000139132 tier1 - - 146 0 0.00 174 13 6.91 FGGY 0 genome.wustl.edu 37 1 59812016 59812017 + Frame_Shift_Ins INS - - G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 59812016 59812017 - G INS FGGY ENST00000303721 human ensembl 74_37 +1 known frame_shift_ins c.411_412 p.V139fs 0.394:0.997 pfam_Carb_kinase_FGGY_N,tigrfam_Carb_kinase_FGGY-rel pfam_Carb_kinase_FGGY_C,pfam_Carb_kinase_FGGY_N,tigrfam_Carb_kinase_FGGY-rel - no_errors FGGY HGNC ENSG00000172456 tier1 75 0 0.00 66 22 25.00 FIGN 0 genome.wustl.edu 37 2 164468121 164468121 + Missense_Mutation SNP T T G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 2 164468121 164468121 T G SNP FIGN ENST00000333129 human ensembl 74_37 -1 known missense c.221 p.K74T 1.000 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 tier1 - - 202 0 0.00 196 86 30.50 FITM2 0 genome.wustl.edu 37 20 42935516 42935516 + Nonsense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 20 42935516 42935516 G A SNP FITM2 ENST00000396825 human ensembl 74_37 -1 known nonsense c.538 p.R180* 0.010 pfam_FIT pfam_FIT - no_errors FITM2 HGNC ENSG00000197296 tier1 - - 88 0 0.00 47 38 44.71 FLG2 0 genome.wustl.edu 37 1 152331355 152331355 + Silent SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 152331355 152331355 G A SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known silent c.6 p.T2 0.004 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 tier1 - - 94 0 0.00 70 35 33.33 FLNB 0 genome.wustl.edu 37 3 58111472 58111472 + Splice_Site SNP T T C TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 3 58111472 58111472 T C SNP FLNB ENST00000295956 human ensembl 74_37 +1 known splice_site c.4061+2 e23+2 1.000 - - - no_errors FLNB HGNC ENSG00000136068 tier1 - - 142 0 0.00 135 13 8.78 FLRT2 0 genome.wustl.edu 37 14 86088055 86088055 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 14 86088055 86088055 C T SNP FLRT2 ENST00000330753 human ensembl 74_37 +1 known missense c.197 p.T66I 1.000 smart_LRR-contain_N pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 tier1 - - 160 0 0.00 99 46 31.51 FNDC3A 0 genome.wustl.edu 37 13 49772648 49772648 + Silent SNP T T G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 13 49772648 49772648 T G SNP FNDC3A ENST00000492622 human ensembl 74_37 +1 known silent c.2925 p.T975 0.811 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3A HGNC ENSG00000102531 tier1 - - 118 0 0.00 81 29 26.36 FUT1 0 genome.wustl.edu 37 19 49253837 49253837 + Silent SNP A A G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 19 49253837 49253837 A G SNP FUT1 ENST00000310160 human ensembl 74_37 -1 known silent c.702 p.G234 0.128 pfam_Glyco_trans_11 pfam_Glyco_trans_11 - no_errors FUT1 HGNC ENSG00000174951 tier1 - - 211 0 0.00 157 86 35.10 GLS 0 genome.wustl.edu 37 2 191797646 191797646 + RNA DEL T T - TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 2 191797646 191797646 T - DEL GLS ENST00000471443 human ensembl 74_37 +1 putative rna NULL NULL 0.013 - - - no_errors GLS HGNC ENSG00000115419 tier1 13 0 0.00 22 4 15.38 GRM1 0 genome.wustl.edu 37 6 146351069 146351069 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 6 146351069 146351069 G A SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.416 p.R139Q 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3_mtglu_rcpt_5 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 tier1 rs140910734 - 140 0 0.00 60 54 47.37 GRM1 0 genome.wustl.edu 37 6 146720814 146720814 + Missense_Mutation SNP A A C TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 6 146720814 146720814 A C SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.2639 p.K880T 1.000 prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3_mtglu_rcpt_5 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 tier1 - - 50 0 0.00 28 13 31.71 HCAR1 0 genome.wustl.edu 37 12 123214216 123214216 + Missense_Mutation SNP A A G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 12 123214216 123214216 A G SNP HCAR1 ENST00000356987 human ensembl 74_37 -1 known missense c.671 p.V224A 0.946 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors HCAR1 HGNC ENSG00000196917 tier1 - - 87 0 0.00 71 26 26.26 HERC6 0 genome.wustl.edu 37 4 89304411 89304411 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 4 89304411 89304411 G A SNP HERC6 ENST00000264346 human ensembl 74_37 +1 known missense c.238 p.V80M 0.948 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC6 HGNC ENSG00000138642 tier1 - - 17 0 0.00 23 10 30.30 HMGCLL1 0 genome.wustl.edu 37 6 55443799 55443799 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 6 55443799 55443799 G A SNP HMGCLL1 ENST00000398661 human ensembl 74_37 -1 known missense c.55 p.R19W 1.000 NULL pfam_PYR_CT,pfscan_PYR_CT - no_errors HMGCLL1 HGNC ENSG00000146151 tier1 - - 44 0 0.00 38 32 45.07 HOMEZ 0 genome.wustl.edu 37 14 23744801 23744803 + In_Frame_Del DEL CAT CAT - TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 CAT CAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 14 23744801 23744803 CAT - DEL HOMEZ ENST00000431326 human ensembl 74_37 -1 known in_frame_del c.1642_1640 p.D547in_frame_del 1.000:1.000:1.000 NULL superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOMEZ HGNC ENSG00000215271 tier1 10 0 0.00 4 3 42.86 HYDIN 0 genome.wustl.edu 37 16 70917863 70917863 + Silent SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 16 70917863 70917863 G A SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative silent c.9939 p.A3313 0.013 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 tier1 - - 81 0 0.00 30 64 68.09 IBSP 0 genome.wustl.edu 37 4 88732877 88732877 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 4 88732877 88732877 G A SNP IBSP ENST00000226284 human ensembl 74_37 +1 known missense c.769 p.V257I 0.000 pfam_BSP_II pfam_BSP_II - no_errors IBSP HGNC ENSG00000029559 tier1 - - 59 0 0.00 32 62 65.96 IGF2R 0 genome.wustl.edu 37 6 160501307 160501308 + Frame_Shift_Del DEL TG TG - TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 6 160501307 160501308 TG - DEL IGF2R ENST00000356956 human ensembl 74_37 +1 known frame_shift_del c.5833 p.S1945fs 0.999 superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 tier1 87 0 0.00 61 26 29.89 IGFN1 0 genome.wustl.edu 37 1 201195101 201195101 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 201195101 201195101 G A SNP IGFN1 ENST00000335211 human ensembl 74_37 +1 known missense c.10636 p.E3546K 0.002 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGFN1 HGNC ENSG00000163395 tier1 rs146256261 - 76 0 0.00 60 24 28.57 IKZF1 0 genome.wustl.edu 37 7 50468308 50468308 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 7 50468308 50468308 C T SNP IKZF1 ENST00000331340 human ensembl 74_37 +1 known missense c.1543 p.R515C 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF1 HGNC ENSG00000185811 tier1 - - 39 0 0.00 21 22 51.16 KCNJ12 0 genome.wustl.edu 37 17 21319222 21319222 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 17 21319222 21319222 C T SNP KCNJ12 ENST00000331718 human ensembl 74_37 +1 known missense c.568 p.R190W 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir 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_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 tier1 - - 130 0 0.00 106 18 14.52 KCNN2 0 genome.wustl.edu 37 5 113698764 113698764 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 5 113698764 113698764 G A SNP KCNN2 ENST00000264773 human ensembl 74_37 +1 known missense c.292 p.G98R 1.000 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN2 HGNC ENSG00000080709 tier1 - - 21 0 0.00 20 9 31.03 KCNQ3 0 genome.wustl.edu 37 8 133175738 133175738 + Silent SNP T T C TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 8 133175738 133175738 T C SNP KCNQ3 ENST00000388996 human ensembl 74_37 -1 known silent c.1239 p.K413 1.000 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 tier1 - - 82 0 0.00 59 45 43.27 KCNT2 0 genome.wustl.edu 37 1 196302981 196302981 + Missense_Mutation SNP A A C TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 196302981 196302981 A C SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known missense c.1993 p.L665V 0.282 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 tier1 - - 38 0 0.00 21 15 41.67 KIF1A 0 genome.wustl.edu 37 2 241710439 241710439 + Silent SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 2 241710439 241710439 G A SNP KIF1A ENST00000498729 human ensembl 74_37 -1 known silent c.1290 p.H430 0.997 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 tier1 - - 75 0 0.00 18 23 56.10 KMT2D 0 genome.wustl.edu 37 12 49428199 49428199 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 12 49428199 49428199 C T SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.10501 p.V3501M 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 tier1 - - 32 0 0.00 15 20 57.14 L3MBTL1 0 genome.wustl.edu 37 20 42165076 42165076 + Silent SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 20 42165076 42165076 G A SNP L3MBTL1 ENST00000418998 human ensembl 74_37 +1 known silent c.2085 p.K695 1.000 NULL pfam_Mbt,pfam_Znf_C2HC,superfamily_SAM/pointed,smart_Mbt,pfscan_Mbt - no_errors L3MBTL1 HGNC ENSG00000185513 tier1 - - 138 0 0.00 132 56 29.79 L3MBTL4 0 genome.wustl.edu 37 18 6244515 6244515 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 18 6244515 6244515 G A SNP L3MBTL4 ENST00000284898 human ensembl 74_37 -1 known missense c.292 p.P98S 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL4 HGNC ENSG00000154655 tier1 - - 199 0 0.00 224 45 16.73 LAMB2 0 genome.wustl.edu 37 3 49161697 49161697 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 3 49161697 49161697 C T SNP LAMB2 ENST00000305544 human ensembl 74_37 -1 known missense c.3350 p.R1117H 0.029 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 tier1 - - 94 0 0.00 43 21 32.81 LAT2 0 genome.wustl.edu 37 7 73635050 73635052 + In_Frame_Del DEL GGA GGA - TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 7 73635050 73635052 GGA - DEL LAT2 ENST00000275635 human ensembl 74_37 +1 known in_frame_del c.318_320 p.E108in_frame_del 0.001:0.032:0.030 NULL NULL - no_errors LAT2 HGNC ENSG00000086730 tier1 27 0 0.00 11 8 42.11 LOC440040 0 genome.wustl.edu 37 11 49597890 49597890 + RNA SNP G G T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 11 49597890 49597890 G T SNP LOC440040 ENST00000527477 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-707M1.1 Clone_based_vega_gene ENSG00000205035 tier1 - - 79 0 0.00 25 23 47.92 LRRC37A2 0 genome.wustl.edu 37 17 44590246 44590246 + Silent SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 17 44590246 44590246 G A SNP LRRC37A2 ENST00000333412 human ensembl 74_37 +1 known silent c.168 p.P56 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A2 HGNC ENSG00000238083 tier1 - - 283 0 0.00 224 72 24.32 LRRTM1 0 genome.wustl.edu 37 2 80530700 80530700 + Missense_Mutation SNP G G T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 2 80530700 80530700 G T SNP LRRTM1 ENST00000295057 human ensembl 74_37 -1 known missense c.245 p.A82D 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 tier1 - - 149 0 0.00 97 59 37.82 LRRTM4 0 genome.wustl.edu 37 2 77746764 77746764 + Missense_Mutation SNP T T G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 2 77746764 77746764 T G SNP LRRTM4 ENST00000409911 human ensembl 74_37 -1 known missense c.234 p.K78N 0.903 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM4 HGNC ENSG00000176204 tier1 - - 139 0 0.00 88 52 37.14 MAGEL2 0 genome.wustl.edu 37 15 23889763 23889763 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 15 23889763 23889763 G A SNP MAGEL2 ENST00000532292 human ensembl 74_37 -1 known missense c.1318 p.R440C 0.831 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 tier1 - - 69 0 0.00 31 29 47.54 MAP10 0 genome.wustl.edu 37 1 232942230 232942230 + Silent SNP C C A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 232942230 232942230 C A SNP MAP10 ENST00000418460 human ensembl 74_37 +1 known silent c.1461 p.P487 0.000 NULL NULL - no_errors MAP10 HGNC ENSG00000212916 tier1 - - 87 0 0.00 59 21 26.25 MAP2 0 genome.wustl.edu 37 2 210517907 210517907 + Silent SNP C C A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 2 210517907 210517907 C A SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known silent c.13 p.R5 1.000 NULL pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 tier1 - - 51 0 0.00 22 25 53.19 MBD6 0 genome.wustl.edu 37 12 57919816 57919817 + Frame_Shift_Ins INS - - T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 12 57919816 57919817 - T INS MBD6 ENST00000355673 human ensembl 74_37 +1 known frame_shift_ins c.1065_1066 p.S355fs 0.960:0.921 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 tier1 105 0 0.00 70 46 39.66 MBD6 0 genome.wustl.edu 37 12 57919818 57919819 + Frame_Shift_Ins INS - - T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 12 57919818 57919819 - T INS MBD6 ENST00000355673 human ensembl 74_37 +1 known frame_shift_ins c.1067_1068 p.S357fs 0.894:0.883 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 tier1 106 0 0.00 71 46 39.32 MC3R 0 genome.wustl.edu 37 20 54824819 54824819 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 20 54824819 54824819 G A SNP MC3R ENST00000243911 human ensembl 74_37 +1 known missense c.920 p.R307H 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_3_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC3R HGNC ENSG00000124089 tier1 - - 218 0 0.00 135 98 42.06 MDH1B 0 genome.wustl.edu 37 2 207620043 207620043 + Silent SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 2 207620043 207620043 C T SNP MDH1B ENST00000374412 human ensembl 74_37 -1 known silent c.600 p.K200 0.000 NULL pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C - no_errors MDH1B HGNC ENSG00000138400 tier1 - - 73 0 0.00 72 41 36.28 METTL12 0 genome.wustl.edu 37 11 62433984 62433984 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 11 62433984 62433984 G A SNP METTL12 ENST00000532971 human ensembl 74_37 +1 known missense c.184 p.G62R 0.707 NULL pfam_Methyltransf_11 - no_errors METTL12 HGNC ENSG00000214756 tier1 - - 123 0 0.00 83 42 33.60 MFSD2B 0 genome.wustl.edu 37 2 24236170 24236170 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 2 24236170 24236170 C T SNP MFSD2B ENST00000338315 human ensembl 74_37 +1 known missense c.112 p.R38C 0.972 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors MFSD2B HGNC ENSG00000205639 tier1 - - 40 0 0.00 6 17 73.91 MKL2 0 genome.wustl.edu 37 16 14340402 14340402 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 16 14340402 14340402 C T SNP MKL2 ENST00000341243 human ensembl 74_37 +1 known missense c.1252 p.R418C 1.000 pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MKL2 HGNC ENSG00000186260 tier1 - - 83 0 0.00 10 35 77.78 MMEL1 0 genome.wustl.edu 37 1 2522439 2522439 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 2522439 2522439 C T SNP MMEL1 ENST00000378412 human ensembl 74_37 -1 known missense c.2330 p.R777H 1.000 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MMEL1 HGNC ENSG00000142606 22 0 0.00 19 3 13.64 MRVI1 0 genome.wustl.edu 37 11 10597940 10597940 + Missense_Mutation SNP G G C TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 11 10597940 10597940 G C SNP MRVI1 ENST00000421747 human ensembl 74_37 -1 known missense c.2651 p.A884G 1.000 pfam_MRVI1 pfam_MRVI1 - no_errors MRVI1 HGNC ENSG00000072952 tier1 - - 60 0 0.00 12 31 72.09 MSANTD3 0 genome.wustl.edu 37 9 103204414 103204414 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 9 103204414 103204414 G A SNP MSANTD3 ENST00000395067 human ensembl 74_37 +1 known missense c.194 p.R65Q 1.000 NULL NULL - no_errors MSANTD3 HGNC ENSG00000066697 tier1 - - 60 0 0.00 33 27 45.00 MT-TS1 0 genome.wustl.edu 37 MT 7465 7466 + RNA INS - - C TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 MT 7465 7466 0 C INS MT-TS1 ENST00000387416 human ensembl 74_37 -1 known rna NULL NULL NULL - - - no_errors MT-TS1 HGNC ENSG00000210151 121 0 0.00 78 7 8.24 MTR 0 genome.wustl.edu 37 1 237060403 237060403 + Silent SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 237060403 237060403 G A SNP MTR ENST00000366577 human ensembl 74_37 +1 known silent c.3696 p.K1232 0.993 superfamily_VitB12-dep_Met_synth_activ_dom,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 tier1 - - 164 0 0.00 123 58 32.04 MYLK2 0 genome.wustl.edu 37 20 30414687 30414687 + Silent SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 20 30414687 30414687 C T SNP MYLK2 ENST00000375985 human ensembl 74_37 +1 known silent c.1170 p.I390 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 MYLK2 HGNC ENSG00000101306 tier1 - - 72 0 0.00 39 54 58.06 NGF 0 genome.wustl.edu 37 1 115829354 115829354 + Silent SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 115829354 115829354 G A SNP NGF ENST00000369512 human ensembl 74_37 -1 known silent c.63 p.H21 0.000 pirsf_Nerve_growth_factor-like,prints_Nerve_growth_factor_bsu_mml pirsf_Nerve_growth_factor-like,pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,prints_Nerve_growth_factor_bsu_mml,prints_Nerve_growth_factor_bsu,pfscan_Nerve_growth_factor-rel - no_errors NGF HGNC ENSG00000134259 tier1 - - 85 0 0.00 53 37 41.11 NIN 0 genome.wustl.edu 37 14 51224537 51224537 + Nonsense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 14 51224537 51224537 G A SNP NIN ENST00000245441 human ensembl 74_37 -1 known nonsense c.3211 p.Q1071* 1.000 NULL superfamily_tRNA-bd_arm,pfscan_EF_hand_dom - no_errors NIN HGNC ENSG00000100503 tier1 - - 250 0 0.00 182 193 51.33 NKX2-2 0 genome.wustl.edu 37 20 21492735 21492735 + Silent SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 20 21492735 21492735 G A SNP NKX2-2 ENST00000377142 human ensembl 74_37 -1 known silent c.648 p.H216 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-2 HGNC ENSG00000125820 tier1 - - 62 0 0.00 66 43 39.45 NME5 0 genome.wustl.edu 37 5 137451362 137451362 + RNA DEL T T - TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 5 137451362 137451362 T - DEL NME5 ENST00000514481 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors NME5 HGNC ENSG00000112981 tier1 62 0 0.00 35 5 12.50 NOTCH2NL 0 genome.wustl.edu 37 1 145290472 145290472 + Missense_Mutation SNP G G T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 145290472 145290472 G T SNP NOTCH2NL ENST00000344859 human ensembl 74_37 +1 known missense c.678 p.K226N 0.002 NULL pfam_EG-like_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors NOTCH2NL HGNC ENSG00000213240 tier1 - - 436 0 0.00 457 25 5.19 NPEPL1 0 genome.wustl.edu 37 20 57268891 57268891 + Silent SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 20 57268891 57268891 G A SNP NPEPL1 ENST00000356091 human ensembl 74_37 +1 known silent c.249 p.V83 1.000 NULL pfam_Peptidase_M17_C,prints_Leucine_aapep/pepB - no_errors NPEPL1 HGNC ENSG00000215440 tier1 - - 79 0 0.00 50 27 35.06 NRXN1 0 genome.wustl.edu 37 2 51253584 51253584 + Missense_Mutation SNP C C A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 2 51253584 51253584 C A SNP NRXN1 ENST00000404971 human ensembl 74_37 -1 novel missense c.796 p.V266F 0.000 NULL 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 21 0 0.00 27 4 12.90 NT5C1A 0 genome.wustl.edu 37 1 40131301 40131301 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 40131301 40131301 G A SNP NT5C1A ENST00000235628 human ensembl 74_37 -1 known missense c.325 p.R109W 0.193 pfam_5-nucleotidase pfam_5-nucleotidase - no_errors NT5C1A HGNC ENSG00000116981 tier1 - - 89 0 0.00 51 44 46.32 OR10K1 0 genome.wustl.edu 37 1 158435667 158435667 + Missense_Mutation SNP T T G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 158435667 158435667 T G SNP OR10K1 ENST00000289451 human ensembl 74_37 +1 known missense c.316 p.F106V 0.949 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10K1 HGNC ENSG00000173285 tier1 - - 215 0 0.00 159 86 35.10 OR10K2 0 genome.wustl.edu 37 1 158389809 158389809 + Missense_Mutation SNP G G T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 158389809 158389809 G T SNP OR10K2 ENST00000314902 human ensembl 74_37 -1 known missense c.848 p.P283Q 0.959 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10K2 HGNC ENSG00000180708 tier1 - - 123 0 0.00 77 34 30.63 OR4K14 0 genome.wustl.edu 37 14 20483297 20483297 + Missense_Mutation SNP G G T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 14 20483297 20483297 G T SNP OR4K14 ENST00000305045 human ensembl 74_37 -1 known missense c.56 p.T19N 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K14 HGNC ENSG00000169484 tier1 - - 100 0 0.00 87 42 32.56 OR4P4 0 genome.wustl.edu 37 11 55405897 55405897 + Nonsense_Mutation SNP G G T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 11 55405897 55405897 G T SNP OR4P4 ENST00000314612 human ensembl 74_37 +1 known nonsense c.64 p.E22* 0.019 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4P4 HGNC ENSG00000181927 tier1 - - 111 0 0.00 90 24 21.05 OR5D13 0 genome.wustl.edu 37 11 55541174 55541174 + Silent SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 11 55541174 55541174 G A SNP OR5D13 ENST00000361760 human ensembl 74_37 +1 known silent c.261 p.L87 0.008 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D13 HGNC ENSG00000198877 tier1 - - 188 0 0.00 146 85 36.80 PALM2 0 genome.wustl.edu 37 9 112705558 112705558 + Silent SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 9 112705558 112705558 C T SNP PALM2 ENST00000448454 human ensembl 74_37 +1 known silent c.1095 p.D365 0.901 pfam_Paralemmin pfam_Paralemmin - no_errors PALM2 HGNC ENSG00000243444 tier1 - - 171 0 0.00 101 58 36.25 PARP3 0 genome.wustl.edu 37 3 51977502 51977502 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 3 51977502 51977502 G A SNP PARP3 ENST00000398755 human ensembl 74_37 +1 known missense c.152 p.R51H 0.003 superfamily_WGR_domain pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP3 HGNC ENSG00000041880 tier1 - - 30 0 0.00 26 4 13.33 PCDHGA4 0 genome.wustl.edu 37 5 140734952 140734952 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 5 140734952 140734952 G A SNP PCDHGA4 ENST00000571252 human ensembl 74_37 +1 known missense c.185 p.R62H 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA4 HGNC ENSG00000262576 tier1 - - 174 0 0.00 102 32 23.88 PDE3B 0 genome.wustl.edu 37 11 14666457 14666457 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 11 14666457 14666457 C T SNP PDE3B ENST00000282096 human ensembl 74_37 +1 known missense c.836 p.S279F 0.282 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3B HGNC ENSG00000152270 tier1 - - 143 0 0.00 83 6 6.67 PDE7B 0 genome.wustl.edu 37 6 136512828 136512828 + Missense_Mutation SNP C C A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 6 136512828 136512828 C A SNP PDE7B ENST00000308191 human ensembl 74_37 +1 known missense c.1203 p.N401K 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE7B HGNC ENSG00000171408 tier1 - - 53 0 0.00 27 10 27.03 PDLIM7 0 genome.wustl.edu 37 5 176911090 176911090 + Silent SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 5 176911090 176911090 G A SNP PDLIM7 ENST00000355841 human ensembl 74_37 -1 known silent c.1152 p.G384 0.954 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM7 HGNC ENSG00000196923 tier1 - - 98 0 0.00 54 19 26.03 PDZD3 0 genome.wustl.edu 37 11 119059814 119059814 + Missense_Mutation SNP G G T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 11 119059814 119059814 G T SNP PDZD3 ENST00000392817 human ensembl 74_37 +1 known missense c.1586 p.R529M 0.042 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD3 HGNC ENSG00000172367 tier1 - - 66 0 0.00 36 33 47.83 PDZK1IP1 0 genome.wustl.edu 37 1 47650692 47650692 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 47650692 47650692 G A SNP PDZK1IP1 ENST00000294338 human ensembl 74_37 -1 known missense c.254 p.S85L 0.833 NULL NULL - no_errors PDZK1IP1 HGNC ENSG00000162366 tier1 rs150391778 - 112 0 0.00 62 61 49.59 PHF21B 0 genome.wustl.edu 37 22 45312223 45312223 + Silent SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 22 45312223 45312223 G A SNP PHF21B ENST00000313237 human ensembl 74_37 -1 known silent c.501 p.T167 0.939 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21B HGNC ENSG00000056487 tier1 - - 38 0 0.00 23 9 28.12 PHLPP2 0 genome.wustl.edu 37 16 71683255 71683255 + Missense_Mutation SNP G G C TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 16 71683255 71683255 G C SNP PHLPP2 ENST00000356272 human ensembl 74_37 -1 known missense c.3510 p.D1170E 0.994 NULL pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom - no_errors PHLPP2 HGNC ENSG00000040199 tier1 - - 88 0 0.00 125 10 7.30 PLEKHA6 0 genome.wustl.edu 37 1 204199652 204199653 + Frame_Shift_Ins INS - - T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 204199652 204199653 - T INS PLEKHA6 ENST00000272203 human ensembl 74_37 -1 known frame_shift_ins c.2472_2471 p.I825fs 1.000:1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC ENSG00000143850 tier1 21 0 0.00 17 10 37.04 POU3F2 0 genome.wustl.edu 37 6 99282855 99282855 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 6 99282855 99282855 G A SNP POU3F2 ENST00000328345 human ensembl 74_37 +1 known missense c.106 p.E36K 1.000 pirsf_Transcription_factor_POU pirsf_Transcription_factor_POU,pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F2 HGNC ENSG00000184486 tier1 - - 46 0 0.00 38 26 40.62 PTH1R 0 genome.wustl.edu 37 3 46940163 46940163 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 3 46940163 46940163 G A SNP PTH1R ENST00000313049 human ensembl 74_37 +1 known missense c.650 p.C217Y 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_parathyroid_rcpt - no_errors PTH1R HGNC ENSG00000160801 tier1 - - 95 0 0.00 56 11 16.42 PTPRG 0 genome.wustl.edu 37 3 61547843 61547843 + RNA SNP G G T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 3 61547843 61547843 G T SNP PTPRG ENST00000475527 human ensembl 74_37 +1 known rna NULL NULL 0.175 - - - no_errors PTPRG HGNC ENSG00000144724 tier1 - - 17 0 0.00 11 6 33.33 PTPRJ 0 genome.wustl.edu 37 11 48158570 48158570 + Missense_Mutation SNP C C G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 11 48158570 48158570 C G SNP PTPRJ ENST00000418331 human ensembl 74_37 +1 known missense c.1889 p.S630C 0.872 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRJ HGNC ENSG00000149177 168 0 0.00 88 5 5.38 PTPRT 0 genome.wustl.edu 37 20 40744684 40744685 + Frame_Shift_Ins INS - - G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 20 40744684 40744685 - G INS PTPRT ENST00000373184 human ensembl 74_37 -1 known frame_shift_ins c.3007_3006 p.G1002fs 1.000:1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 tier1 9 0 0.00 7 2 22.22 RAD51C 0 genome.wustl.edu 37 17 56772408 56772408 + Silent SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 17 56772408 56772408 C T SNP RAD51C ENST00000337432 human ensembl 74_37 +1 known silent c.262 p.L88 0.996 pfam_DNA_recomb/repair_Rad51_C,pirsf_DNA_recomb/repair_RecA-like pfam_DNA_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd - no_errors RAD51C HGNC ENSG00000108384 tier1 - - 106 0 0.00 76 42 35.59 RBM10 0 genome.wustl.edu 37 X 47030585 47030585 + Missense_Mutation SNP T T G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 X 47030585 47030585 T G SNP RBM10 ENST00000377604 human ensembl 74_37 +1 known missense c.360 p.D120E 0.997 NULL pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM10 HGNC ENSG00000182872 tier1 - - 19 0 0.00 23 5 17.86 RD3 0 genome.wustl.edu 37 1 211652456 211652456 + Silent SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 211652456 211652456 G A SNP RD3 ENST00000367002 human ensembl 74_37 -1 known silent c.510 p.S170 0.292 NULL NULL - no_errors RD3 HGNC ENSG00000198570 tier1 - - 29 0 0.00 15 8 34.78 REG1B 0 genome.wustl.edu 37 2 79312711 79312711 + Missense_Mutation SNP T T G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 2 79312711 79312711 T G SNP REG1B ENST00000305089 human ensembl 74_37 -1 known missense c.340 p.S114R 0.283 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors REG1B HGNC ENSG00000172023 tier1 - - 99 0 0.00 41 30 42.25 RIMS2 0 genome.wustl.edu 37 8 104924394 104924394 + Silent SNP C C A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 8 104924394 104924394 C A SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known silent c.1806 p.G602 0.786 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ 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 tier1 - - 123 0 0.00 70 67 48.91 RPRD1B 0 genome.wustl.edu 37 20 36668908 36668908 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 20 36668908 36668908 C T SNP RPRD1B ENST00000373433 human ensembl 74_37 +1 known missense c.223 p.P75S 1.000 pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom - no_errors RPRD1B HGNC ENSG00000101413 tier1 - - 127 0 0.00 114 72 38.71 SCN10A 0 genome.wustl.edu 37 3 38739984 38739984 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 3 38739984 38739984 C T SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known missense c.4727 p.R1576H 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 tier1 - - 157 0 0.00 109 7 6.03 SETD2 0 genome.wustl.edu 37 3 47087998 47087998 + Silent SNP C C A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 3 47087998 47087998 C A SNP SETD2 ENST00000409792 human ensembl 74_37 -1 known silent c.7077 p.G2359 0.956 NULL pfam_SRI,pfam_SET_dom,pfam_WW_dom,superfamily_WW_dom,superfamily_Ferritin-like_SF,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_dom,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_dom - no_errors SETD2 HGNC ENSG00000181555 tier1 - - 82 0 0.00 46 32 41.03 SLC32A1 0 genome.wustl.edu 37 20 37353700 37353700 + Silent SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 20 37353700 37353700 C T SNP SLC32A1 ENST00000217420 human ensembl 74_37 +1 known silent c.333 p.H111 0.791 NULL pfam_AA_transpt_TM - no_errors SLC32A1 HGNC ENSG00000101438 tier1 - - 149 0 0.00 93 51 35.42 SLC38A4 0 genome.wustl.edu 37 12 47173568 47173568 + Missense_Mutation SNP T T C TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 12 47173568 47173568 T C SNP SLC38A4 ENST00000266579 human ensembl 74_37 -1 known missense c.653 p.N218S 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A4 HGNC ENSG00000139209 tier1 - - 74 0 0.00 54 8 12.90 SLCO4C1 0 genome.wustl.edu 37 5 101592894 101592894 + Missense_Mutation SNP A A C TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 5 101592894 101592894 A C SNP SLCO4C1 ENST00000310954 human ensembl 74_37 -1 known missense c.1394 p.L465R 0.027 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO4C1 HGNC ENSG00000173930 tier1 - - 87 0 0.00 138 18 11.54 SMARCA4 0 genome.wustl.edu 37 19 11141427 11141427 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 19 11141427 11141427 G A SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known missense c.3404 p.R1135Q 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 tier1 - - 19 0 0.00 16 8 33.33 SMCHD1 0 genome.wustl.edu 37 18 2732472 2732472 + Silent SNP T T G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 18 2732472 2732472 T G SNP SMCHD1 ENST00000320876 human ensembl 74_37 +1 known silent c.3258 p.A1086 0.852 NULL pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_HATPase_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC ENSG00000101596 tier1 - - 26 0 0.00 14 9 39.13 SON 0 genome.wustl.edu 37 21 34921914 34921914 + Frame_Shift_Del DEL A A - TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 21 34921914 34921914 A - DEL SON ENST00000356577 human ensembl 74_37 +1 known frame_shift_del c.377 p.K128fs 1.000 NULL pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_dsRNA-bd_dom - no_errors SON HGNC ENSG00000159140 tier1 49 0 0.00 40 3 6.98 SPATA21 0 genome.wustl.edu 37 1 16736338 16736338 + Silent SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 16736338 16736338 C T SNP SPATA21 ENST00000335496 human ensembl 74_37 -1 known silent c.345 p.R115 0.004 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors SPATA21 HGNC ENSG00000187144 tier1 - - 64 0 0.00 70 5 6.67 SPTBN5 0 genome.wustl.edu 37 15 42145460 42145460 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 15 42145460 42145460 G A SNP SPTBN5 ENST00000320955 human ensembl 74_37 -1 known missense c.10166 p.A3389V 0.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 89 0 0.00 77 6 7.23 SYNE3 0 genome.wustl.edu 37 14 95906003 95906003 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 14 95906003 95906003 C T SNP SYNE3 ENST00000334258 human ensembl 74_37 -1 known missense c.2192 p.R731K 0.162 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH - no_errors SYNE3 HGNC ENSG00000176438 tier1 - - 97 0 0.00 39 27 40.91 SYT4 0 genome.wustl.edu 37 18 40850383 40850383 + Missense_Mutation SNP C C A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 18 40850383 40850383 C A SNP SYT4 ENST00000255224 human ensembl 74_37 -1 known missense c.1201 p.G401C 0.958 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT4 HGNC ENSG00000132872 tier1 - - 244 0 0.00 194 25 11.42 SYT8 0 genome.wustl.edu 37 11 1858548 1858548 + Missense_Mutation SNP C C A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 11 1858548 1858548 C A SNP SYT8 ENST00000381968 human ensembl 74_37 +1 known missense c.1093 p.H365N 1.000 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT8 HGNC ENSG00000149043 tier1 - - 35 0 0.00 4 20 83.33 TAPT1 0 genome.wustl.edu 37 4 16227881 16227881 + Splice_Site DEL C C - TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 4 16227881 16227881 C - DEL TAPT1 ENST00000405303 human ensembl 74_37 -1 known splice_site_del c.199+1 e1+1 1.000 - - - no_errors TAPT1 HGNC ENSG00000169762 tier1 8 0 0.00 4 2 33.33 TGIF2LY 0 genome.wustl.edu 37 Y 3447740 3447740 + Missense_Mutation SNP C C A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 Y 3447740 3447740 C A SNP TGIF2LY ENST00000321217 human ensembl 74_37 +1 known missense c.455 p.T152K 0.035 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors TGIF2LY HGNC ENSG00000176679 tier1 - - 51 0 0.00 12 42 77.78 TGM3 0 genome.wustl.edu 37 20 2298127 2298127 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 20 2298127 2298127 G A SNP TGM3 ENST00000381458 human ensembl 74_37 +1 known missense c.979 p.V327I 0.001 pfam_Transglutaminase-like,smart_Transglutaminase-like pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM3 HGNC ENSG00000125780 tier1 - - 225 0 0.00 148 111 42.86 TMEM39B 0 genome.wustl.edu 37 1 32557495 32557495 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 32557495 32557495 C T SNP TMEM39B ENST00000456834 human ensembl 74_37 +1 known missense c.655 p.H219Y 1.000 NULL pfam_Uncharacterised_TMEM39 - no_errors TMEM39B HGNC ENSG00000121775 tier1 - - 71 0 0.00 59 31 34.44 TNFRSF25 0 genome.wustl.edu 37 1 6521564 6521564 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 6521564 6521564 G A SNP TNFRSF25 ENST00000377782 human ensembl 74_37 -1 known missense c.1211 p.A404V 0.995 pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_25,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF25 HGNC ENSG00000215788 tier1 - - 22 0 0.00 23 14 37.84 TNN 0 genome.wustl.edu 37 1 175049525 175049525 + Missense_Mutation SNP A A C TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 175049525 175049525 A C SNP TNN ENST00000239462 human ensembl 74_37 +1 known missense c.1011 p.E337D 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 tier1 - - 107 0 0.00 97 39 28.68 TP63 0 genome.wustl.edu 37 3 189526314 189526314 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 3 189526314 189526314 C T SNP TP63 ENST00000264731 human ensembl 74_37 +1 known missense c.578 p.T193M 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP63 HGNC ENSG00000073282 tier1 - - 126 0 0.00 126 35 21.74 TRPM3 0 genome.wustl.edu 37 9 73442845 73442845 + Silent SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 9 73442845 73442845 G A SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known silent c.897 p.N299 0.978 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 tier1 rs201646902 - 203 0 0.00 129 58 31.02 TTN 0 genome.wustl.edu 37 2 179427899 179427899 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 2 179427899 179427899 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.75256 p.V25086I 0.956 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 275 0 0.00 179 181 50.28 TTN 0 genome.wustl.edu 37 2 179606168 179606168 + Missense_Mutation SNP T T C TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 2 179606168 179606168 T C SNP TTN ENST00000342175 human ensembl 74_37 -1 known missense c.11279 p.K3760R 0.925 superfamily_RNaseH-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 263 0 0.00 169 189 52.79 TUFM 0 genome.wustl.edu 37 16 28856763 28856763 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 16 28856763 28856763 C T SNP TUFM ENST00000313511 human ensembl 74_37 -1 known missense c.286 p.E96K 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,tigrfam_Transl_elong_EFTu/EF1A_bac/org pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EFTu/EF1A_bac/org - no_errors TUFM HGNC ENSG00000178952 tier1 - - 137 0 0.00 30 48 61.54 UBQLNL 0 genome.wustl.edu 37 11 5537522 5537522 + Silent SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 11 5537522 5537522 G A SNP UBQLNL ENST00000380184 human ensembl 74_37 -1 putative silent c.150 p.I50 0.740 pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors UBQLNL HGNC ENSG00000175518 tier1 - - 110 0 0.00 22 55 71.43 UNC93B1 0 genome.wustl.edu 37 11 67759287 67759287 + Silent SNP C C A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 11 67759287 67759287 C A SNP UNC93B1 ENST00000227471 human ensembl 74_37 -1 known silent c.1521 p.A507 0.000 NULL pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93B1 HGNC ENSG00000110057 tier1 - - 14 0 0.00 9 4 30.77 USH2A 0 genome.wustl.edu 37 1 215821930 215821930 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 215821930 215821930 G A SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.14522 p.A4841V 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 - - 115 0 0.00 72 45 38.46 USP19 0 genome.wustl.edu 37 3 49153507 49153507 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 3 49153507 49153507 C T SNP USP19 ENST00000398888 human ensembl 74_37 -1 known missense c.1141 p.G381R 1.000 superfamily_HSP20-like_chaperone,pfscan_CS_dom pfam_Peptidase_C19/C67,pfam_Znf_MYND,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom,pfscan_Znf_MYND,pfscan_Peptidase_C19/C67 - no_errors USP19 HGNC ENSG00000172046 tier1 - - 84 0 0.00 56 6 9.68 USP39 0 genome.wustl.edu 37 2 85843575 85843575 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 2 85843575 85843575 G A SNP USP39 ENST00000409470 human ensembl 74_37 +1 known missense c.257 p.R86Q 1.000 NULL pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP39 HGNC ENSG00000168883 tier1 - - 27 0 0.00 13 18 58.06 VWA5A 0 genome.wustl.edu 37 11 124012335 124012335 + Missense_Mutation SNP C C A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 11 124012335 124012335 C A SNP VWA5A ENST00000392748 human ensembl 74_37 +1 known missense c.1910 p.P637H 0.000 NULL pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors VWA5A HGNC ENSG00000110002 tier1 - - 160 0 0.00 105 72 40.45 WASH3P 0 genome.wustl.edu 37 15 102516424 102516424 + RNA SNP G G T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 15 102516424 102516424 G T SNP WASH3P ENST00000557932 human ensembl 74_37 +1 known rna NULL NULL 0.990 - - - no_errors WASH3P HGNC ENSG00000185596 tier1 rs201105823 - 59 0 0.00 63 7 10.00 WDFY3 0 genome.wustl.edu 37 4 85638087 85638087 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 4 85638087 85638087 C T SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.7837 p.D2613N 1.000 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 tier1 - - 180 0 0.00 155 140 47.46 WDR19 0 genome.wustl.edu 37 4 39269634 39269634 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 4 39269634 39269634 G A SNP WDR19 ENST00000399820 human ensembl 74_37 +1 known missense c.3281 p.R1094H 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR19 HGNC ENSG00000157796 tier1 - - 33 0 0.00 5 5 50.00 WIPF3 0 genome.wustl.edu 37 7 29929023 29929023 + Missense_Mutation SNP A A C TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 7 29929023 29929023 A C SNP WIPF3 ENST00000242140 human ensembl 74_37 +1 known missense c.1351 p.S451R 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WIPF3 HGNC ENSG00000122574 tier1 - - 40 0 0.00 28 17 37.78 WISP3 0 genome.wustl.edu 37 6 112388225 112388225 + Silent SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 6 112388225 112388225 C T SNP WISP3 ENST00000368664 human ensembl 74_37 +1 known silent c.697 p.L233 0.754 NULL pfam_IGFBP-like,smart_IGFBP-like - no_errors WISP3 HGNC ENSG00000112761 tier1 - - 90 0 0.00 35 40 53.33 ZNF135 0 genome.wustl.edu 37 19 58574826 58574826 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 19 58574826 58574826 C T SNP ZNF135 ENST00000401053 human ensembl 74_37 +1 known missense c.209 p.P70L 0.000 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF135 HGNC ENSG00000176293 tier1 - - 87 0 0.00 56 26 31.71 ZNF208 0 genome.wustl.edu 37 19 22157258 22157258 + Missense_Mutation SNP C C G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 19 22157258 22157258 C G SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.578 p.R193T 0.002 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF208 HGNC ENSG00000160321 tier1 - - 93 0 0.00 49 39 44.32 ZNF442 0 genome.wustl.edu 37 19 12461806 12461806 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 19 12461806 12461806 C T SNP ZNF442 ENST00000242804 human ensembl 74_37 -1 known missense c.593 p.R198K 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF442 HGNC ENSG00000198342 tier1 - - 179 0 0.00 126 60 32.26 ZNF492 0 genome.wustl.edu 37 19 22847578 22847578 + Silent SNP A A G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 19 22847578 22847578 A G SNP ZNF492 ENST00000456783 human ensembl 74_37 +1 known silent c.1107 p.V369 0.380 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF492 HGNC ENSG00000229676 tier1 - - 36 0 0.00 27 11 28.95 ZNF676 0 genome.wustl.edu 37 19 22364124 22364124 + Missense_Mutation SNP T T G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 19 22364124 22364124 T G SNP ZNF676 ENST00000397121 human ensembl 74_37 -1 known missense c.395 p.K132T 0.007 NULL pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 tier1 - - 193 0 0.00 76 82 51.90 ZNF677 0 genome.wustl.edu 37 19 53754852 53754852 + RNA SNP A A G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 19 53754852 53754852 A G SNP ZNF677 ENST00000595293 human ensembl 74_37 -1 known rna NULL NULL 0.175 - - - no_errors ZNF677 HGNC ENSG00000197928 tier1 - - 39 0 0.00 9 50 84.75 ZNF780B 0 genome.wustl.edu 37 19 40542132 40542132 + Nonsense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 19 40542132 40542132 G A SNP ZNF780B ENST00000434248 human ensembl 74_37 -1 known nonsense c.634 p.Q212* 0.891 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 ZNF780B HGNC ENSG00000128000 tier1 - - 94 0 0.00 24 66 73.33 ZNF92 0 genome.wustl.edu 37 7 64863276 64863276 + Silent SNP A A G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 7 64863276 64863276 A G SNP ZNF92 ENST00000328747 human ensembl 74_37 +1 known silent c.249 p.Q83 0.007 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF92 HGNC ENSG00000146757 tier1 - - 78 0 0.00 39 26 40.00 CELSR2 0 genome.wustl.edu 37 1 109795735 109795735 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 109795735 109795735 C T SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.3034 p.R1012C 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 93 0 0 65 47 41.9643 NGF 0 genome.wustl.edu 37 1 115829354 115829354 + Silent SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 115829354 115829354 G A SNP NGF ENST00000369512 human ensembl 74_37 -1 known silent c.63 p.H21 0.000 pirsf_Nerve_growth_factor-like,prints_Nerve_growth_factor_bsu_mml pirsf_Nerve_growth_factor-like,pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,prints_Nerve_growth_factor_bsu_mml,prints_Nerve_growth_factor_bsu,pfscan_Nerve_growth_factor-rel - no_errors NGF HGNC ENSG00000134259 80 0 0 51 35 40.6977 ENSG00000234978 0 genome.wustl.edu 37 1 142803892 142803892 + RNA SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 142803892 142803892 G A SNP ENSG00000234978 ENST00000423385 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-423O2.5 Clone_based_vega_gene ENSG00000234978 9 0 0 7 3 30 NOTCH2NL 0 genome.wustl.edu 37 1 145290472 145290472 + Missense_Mutation SNP G G T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 145290472 145290472 G T SNP NOTCH2NL ENST00000344859 human ensembl 74_37 +1 known missense c.678 p.K226N 0.002 NULL pfam_EG-like_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors NOTCH2NL HGNC ENSG00000213240 357 0 0 376 20 5.05051 FLG2 0 genome.wustl.edu 37 1 152331355 152331355 + Silent SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 152331355 152331355 G A SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known silent c.6 p.T2 0.004 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 88 0 0 62 34 35.4167 CD1C 0 genome.wustl.edu 37 1 158262019 158262019 + Missense_Mutation SNP G G T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 158262019 158262019 G T SNP CD1C ENST00000368170 human ensembl 74_37 +1 known missense c.474 p.L158F 0.000 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1C HGNC ENSG00000158481 328 0 0 213 132 38.2609 OR10K2 0 genome.wustl.edu 37 1 158389809 158389809 + Missense_Mutation SNP G G T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 158389809 158389809 G T SNP OR10K2 ENST00000314902 human ensembl 74_37 -1 known missense c.848 p.P283Q 0.959 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10K2 HGNC ENSG00000180708 115 0 0 71 32 31.068 OR10K1 0 genome.wustl.edu 37 1 158435667 158435667 + Missense_Mutation SNP T T G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 158435667 158435667 T G SNP OR10K1 ENST00000289451 human ensembl 74_37 +1 known missense c.316 p.F106V 0.949 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10K1 HGNC ENSG00000173285 195 0 0 140 79 36.0731 ARHGAP30 0 genome.wustl.edu 37 1 161022270 161022270 + Silent SNP A A G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 161022270 161022270 A G SNP ARHGAP30 ENST00000368013 human ensembl 74_37 -1 known silent c.900 p.H300 0.989 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ENSG00000186517 325 1 0.306748 184 151 45.0746 DEDD 0 genome.wustl.edu 37 1 161092113 161092113 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 161092113 161092113 G A SNP DEDD ENST00000368005 human ensembl 74_37 -1 known missense c.871 p.R291C 1.000 NULL pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED - no_errors DEDD HGNC ENSG00000158796 99 0 0 56 49 46.6667 SPATA21 0 genome.wustl.edu 37 1 16736338 16736338 + Silent SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 16736338 16736338 C T SNP SPATA21 ENST00000335496 human ensembl 74_37 -1 known silent c.345 p.R115 0.004 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors SPATA21 HGNC ENSG00000187144 60 0 0 66 5 7.04225 TNN 0 genome.wustl.edu 37 1 175049525 175049525 + Missense_Mutation SNP A A C TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 175049525 175049525 A C SNP TNN ENST00000239462 human ensembl 74_37 +1 known missense c.1011 p.E337D 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 96 0 0 86 34 28.3333 KCNT2 0 genome.wustl.edu 37 1 196302981 196302981 + Missense_Mutation SNP A A C TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 196302981 196302981 A C SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known missense c.1993 p.L665V 0.282 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 37 0 0 20 13 39.3939 IGFN1 0 genome.wustl.edu 37 1 201195101 201195101 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 201195101 201195101 G A SNP IGFN1 ENST00000335211 human ensembl 74_37 +1 known missense c.10636 p.E3546K 0.002 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGFN1 HGNC ENSG00000163395 69 0 0 52 21 28.7671 RD3 0 genome.wustl.edu 37 1 211652456 211652456 + Silent SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 211652456 211652456 G A SNP RD3 ENST00000367002 human ensembl 74_37 -1 known silent c.510 p.S170 0.292 NULL NULL - no_errors RD3 HGNC ENSG00000198570 28 0 0 14 7 33.3333 USH2A 0 genome.wustl.edu 37 1 215821930 215821930 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 215821930 215821930 G A SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.14522 p.A4841V 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 106 0 0 68 42 38.1818 MAP10 0 genome.wustl.edu 37 1 232942230 232942230 + Silent SNP C C A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 232942230 232942230 C A SNP MAP10 ENST00000418460 human ensembl 74_37 +1 known silent c.1461 p.P487 0.000 NULL NULL - no_errors MAP10 HGNC ENSG00000212916 83 0 0 55 21 27.6316 MTR 0 genome.wustl.edu 37 1 237060403 237060403 + Silent SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 237060403 237060403 G A SNP MTR ENST00000366577 human ensembl 74_37 +1 known silent c.3696 p.K1232 0.993 superfamily_VitB12-dep_Met_synth_activ_dom,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 158 0 0 111 57 33.9286 RGS7 0 genome.wustl.edu 37 1 240966237 240966237 + Silent SNP A A G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 240966237 240966237 A G SNP RGS7 ENST00000407727 human ensembl 74_37 -1 known silent c.1326 p.S442 1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS7 HGNC ENSG00000182901 166 0 0 99 53 34.8684 EXO1 0 genome.wustl.edu 37 1 242035502 242035502 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 242035502 242035502 C T SNP EXO1 ENST00000348581 human ensembl 74_37 +1 known missense c.1436 p.T479M 0.000 NULL pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors EXO1 HGNC ENSG00000174371 113 0 0 98 7 6.66667 OR2L8 0 genome.wustl.edu 37 1 248112379 248112379 + Missense_Mutation SNP T T C TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 248112379 248112379 T C SNP OR2L8 ENST00000357191 human ensembl 74_37 +1 known missense c.220 p.S74P 0.226 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L8 HGNC ENSG00000196936 409 1 0.243902 258 131 33.6761 TMEM39B 0 genome.wustl.edu 37 1 32557495 32557495 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 32557495 32557495 C T SNP TMEM39B ENST00000456834 human ensembl 74_37 +1 known missense c.655 p.H219Y 1.000 NULL pfam_Uncharacterised_TMEM39 - no_errors TMEM39B HGNC ENSG00000121775 65 0 0 55 28 33.7349 NT5C1A 0 genome.wustl.edu 37 1 40131301 40131301 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 40131301 40131301 G A SNP NT5C1A ENST00000235628 human ensembl 74_37 -1 known missense c.325 p.R109W 0.193 pfam_5-nucleotidase pfam_5-nucleotidase - no_errors NT5C1A HGNC ENSG00000116981 76 0 0 45 37 45.122 HIVEP3 0 genome.wustl.edu 37 1 42048426 42048426 + Silent SNP T T C TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 42048426 42048426 T C SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known silent c.2043 p.T681 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 162 1 0.613497 87 60 40.8163 PDZK1IP1 0 genome.wustl.edu 37 1 47650692 47650692 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 47650692 47650692 G A SNP PDZK1IP1 ENST00000294338 human ensembl 74_37 -1 known missense c.254 p.S85L 0.833 NULL NULL - no_errors PDZK1IP1 HGNC ENSG00000162366 100 0 0 56 55 49.5495 TNFRSF25 0 genome.wustl.edu 37 1 6521564 6521564 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 6521564 6521564 G A SNP TNFRSF25 ENST00000377782 human ensembl 74_37 -1 known missense c.1211 p.A404V 0.995 pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_25,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF25 HGNC ENSG00000215788 20 0 0 21 13 38.2353 CUBN 0 genome.wustl.edu 37 10 16992011 16992011 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 10 16992011 16992011 G A SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.5069 p.A1690V 0.995 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 38 0 0 13 12 48 ARMC4 0 genome.wustl.edu 37 10 28233856 28233856 + Silent SNP A A G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 10 28233856 28233856 A G SNP ARMC4 ENST00000305242 human ensembl 74_37 -1 known silent c.1422 p.C474 0.891 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 104 0 0 42 36 46.1538 ARID5B 0 genome.wustl.edu 37 10 63759868 63759868 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 10 63759868 63759868 C T SNP ARID5B ENST00000279873 human ensembl 74_37 +1 known missense c.521 p.T174M 0.111 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID5B HGNC ENSG00000150347 74 0 0 47 4 7.84314 DYNC2H1 0 genome.wustl.edu 37 11 103175351 103175351 + Missense_Mutation SNP T T G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 11 103175351 103175351 T G SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.11305 p.L3769V 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 47 0 0 36 27 42.8571 MRVI1 0 genome.wustl.edu 37 11 10597940 10597940 + Missense_Mutation SNP G G C TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 11 10597940 10597940 G C SNP MRVI1 ENST00000421747 human ensembl 74_37 -1 known missense c.2651 p.A884G 1.000 pfam_MRVI1 pfam_MRVI1 - no_errors MRVI1 HGNC ENSG00000072952 57 0 0 12 29 70.7317 ARHGAP20 0 genome.wustl.edu 37 11 110485314 110485314 + Missense_Mutation SNP A A C TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 11 110485314 110485314 A C SNP ARHGAP20 ENST00000260283 human ensembl 74_37 -1 known missense c.601 p.F201V 1.000 pfam_Ras-assoc,pfscan_Ras-assoc 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 101 0 0 76 37 32.7434 DSCAML1 0 genome.wustl.edu 37 11 117306508 117306508 + Missense_Mutation SNP A A C TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 11 117306508 117306508 A C SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known missense c.4908 p.I1636M 1.000 NULL 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 115 0 0 64 41 39.0476 PDZD3 0 genome.wustl.edu 37 11 119059814 119059814 + Missense_Mutation SNP G G T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 11 119059814 119059814 G T SNP PDZD3 ENST00000392817 human ensembl 74_37 +1 known missense c.1586 p.R529M 0.042 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD3 HGNC ENSG00000172367 66 0 0 36 33 47.8261 VWA5A 0 genome.wustl.edu 37 11 124012335 124012335 + Missense_Mutation SNP C C A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 11 124012335 124012335 C A SNP VWA5A ENST00000392748 human ensembl 74_37 +1 known missense c.1910 p.P637H 0.000 NULL pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors VWA5A HGNC ENSG00000110002 144 0 0 98 67 40.6061 PDE3B 0 genome.wustl.edu 37 11 14666457 14666457 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 11 14666457 14666457 C T SNP PDE3B ENST00000282096 human ensembl 74_37 +1 known missense c.836 p.S279F 0.282 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3B HGNC ENSG00000152270 129 0 0 75 5 6.25 SYT8 0 genome.wustl.edu 37 11 1858548 1858548 + Missense_Mutation SNP C C A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 11 1858548 1858548 C A SNP SYT8 ENST00000381968 human ensembl 74_37 +1 known missense c.1093 p.H365N 1.000 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT8 HGNC ENSG00000149043 35 0 0 4 20 83.3333 LOC440040 0 genome.wustl.edu 37 11 49597890 49597890 + RNA SNP G G T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 11 49597890 49597890 G T SNP LOC440040 ENST00000527477 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-707M1.1 Clone_based_vega_gene ENSG00000205035 71 0 0 23 22 48.8889 UBQLNL 0 genome.wustl.edu 37 11 5537522 5537522 + Silent SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 11 5537522 5537522 G A SNP UBQLNL ENST00000380184 human ensembl 74_37 -1 putative silent c.150 p.I50 0.740 pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors UBQLNL HGNC ENSG00000175518 102 0 0 22 52 70.2703 OR4P4 0 genome.wustl.edu 37 11 55405897 55405897 + Nonsense_Mutation SNP G G T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 11 55405897 55405897 G T SNP OR4P4 ENST00000314612 human ensembl 74_37 +1 known nonsense c.64 p.E22* 0.019 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4P4 HGNC ENSG00000181927 107 0 0 81 23 22.1154 OR5D13 0 genome.wustl.edu 37 11 55541174 55541174 + Silent SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 11 55541174 55541174 G A SNP OR5D13 ENST00000361760 human ensembl 74_37 +1 known silent c.261 p.L87 0.008 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D13 HGNC ENSG00000198877 171 0 0 131 81 38.2075 OR8J3 0 genome.wustl.edu 37 11 55905014 55905014 + Missense_Mutation SNP A A C TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 11 55905014 55905014 A C SNP OR8J3 ENST00000301529 human ensembl 74_37 -1 known missense c.181 p.F61V 0.590 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8J3 HGNC ENSG00000167822 170 1 0.584795 94 64 40.5063 METTL12 0 genome.wustl.edu 37 11 62433984 62433984 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 11 62433984 62433984 G A SNP METTL12 ENST00000532971 human ensembl 74_37 +1 known missense c.184 p.G62R 0.707 NULL pfam_Methyltransf_11 - no_errors METTL12 HGNC ENSG00000214756 113 0 0 74 41 35.6522 MSI1 0 genome.wustl.edu 37 12 120784019 120784019 + Silent SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 12 120784019 120784019 C T SNP MSI1 ENST00000257552 human ensembl 74_37 -1 known silent c.966 p.A322 0.623 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MSI1 HGNC ENSG00000135097 13 0 0 7 5 41.6667 HCAR1 0 genome.wustl.edu 37 12 123214216 123214216 + Missense_Mutation SNP A A G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 12 123214216 123214216 A G SNP HCAR1 ENST00000356987 human ensembl 74_37 -1 known missense c.671 p.V224A 0.946 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors HCAR1 HGNC ENSG00000196917 79 0 0 63 24 27.5862 ADIPOR2 0 genome.wustl.edu 37 12 1890115 1890115 + Silent SNP T T C TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 12 1890115 1890115 T C SNP ADIPOR2 ENST00000357103 human ensembl 74_37 +1 known silent c.711 p.Y237 1.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors ADIPOR2 HGNC ENSG00000006831 168 0 0 96 57 37.2549 FGD4 0 genome.wustl.edu 37 12 32772670 32772670 + Silent SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 12 32772670 32772670 C T SNP FGD4 ENST00000427716 human ensembl 74_37 +1 known silent c.1377 p.S459 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD4 HGNC ENSG00000139132 124 0 0 152 12 7.31707 SLC38A4 0 genome.wustl.edu 37 12 47173568 47173568 + Missense_Mutation SNP T T C TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 12 47173568 47173568 T C SNP SLC38A4 ENST00000266579 human ensembl 74_37 -1 known missense c.653 p.N218S 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A4 HGNC ENSG00000139209 69 0 0 50 7 12.2807 KMT2D 0 genome.wustl.edu 37 12 49428199 49428199 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 12 49428199 49428199 C T SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.10501 p.V3501M 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 29 0 0 15 19 55.8824 C1QL4 0 genome.wustl.edu 37 12 49729919 49729919 + Silent SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 12 49729919 49729919 C T SNP C1QL4 ENST00000334221 human ensembl 74_37 -1 known silent c.342 p.A114 0.177 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QL4 HGNC ENSG00000186897 31 0 0 23 19 45.2381 FNDC3A 0 genome.wustl.edu 37 13 49772648 49772648 + Silent SNP T T G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 13 49772648 49772648 T G SNP FNDC3A ENST00000492622 human ensembl 74_37 +1 known silent c.2925 p.T975 0.811 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3A HGNC ENSG00000102531 106 0 0 75 28 27.1845 AHNAK2 0 genome.wustl.edu 37 14 105413513 105413513 + Missense_Mutation SNP C C A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 14 105413513 105413513 C A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.8275 p.D2759Y 0.209 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 364 0 0 177 93 34.4444 OR4K14 0 genome.wustl.edu 37 14 20483297 20483297 + Missense_Mutation SNP G G T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 14 20483297 20483297 G T SNP OR4K14 ENST00000305045 human ensembl 74_37 -1 known missense c.56 p.T19N 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K14 HGNC ENSG00000169484 88 0 0 75 37 33.0357 FANCM 0 genome.wustl.edu 37 14 45650671 45650671 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 14 45650671 45650671 G A SNP FANCM ENST00000267430 human ensembl 74_37 +1 known missense c.4261 p.E1421K 0.980 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 76 0 0 84 33 28.2051 NIN 0 genome.wustl.edu 37 14 51224537 51224537 + Nonsense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 14 51224537 51224537 G A SNP NIN ENST00000245441 human ensembl 74_37 -1 known nonsense c.3211 p.Q1071* 1.000 NULL superfamily_tRNA-bd_arm,pfscan_EF_hand_dom - no_errors NIN HGNC ENSG00000100503 233 0 0 171 178 51.0029 FLRT2 0 genome.wustl.edu 37 14 86088055 86088055 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 14 86088055 86088055 C T SNP FLRT2 ENST00000330753 human ensembl 74_37 +1 known missense c.197 p.T66I 1.000 smart_LRR-contain_N pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 149 0 0 90 44 32.8358 SYNE3 0 genome.wustl.edu 37 14 95906003 95906003 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 14 95906003 95906003 C T SNP SYNE3 ENST00000334258 human ensembl 74_37 -1 known missense c.2192 p.R731K 0.162 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH - no_errors SYNE3 HGNC ENSG00000176438 89 0 0 35 26 42.623 C14orf177 0 genome.wustl.edu 37 14 99183532 99183532 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 14 99183532 99183532 C T SNP C14orf177 ENST00000325812 human ensembl 74_37 +1 known missense c.299 p.S100L 0.005 NULL NULL - no_errors C14orf177 HGNC ENSG00000176605 86 0 0 75 7 8.53659 WASH3P 0 genome.wustl.edu 37 15 102516424 102516424 + RNA SNP G G T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 15 102516424 102516424 G T SNP WASH3P ENST00000557932 human ensembl 74_37 +1 known rna NULL NULL 0.990 - - - no_errors WASH3P HGNC ENSG00000185596 51 0 0 58 7 10.7692 MAGEL2 0 genome.wustl.edu 37 15 23889763 23889763 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 15 23889763 23889763 G A SNP MAGEL2 ENST00000532292 human ensembl 74_37 -1 known missense c.1318 p.R440C 0.831 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 62 0 0 27 26 49.0566 ATP10A 0 genome.wustl.edu 37 15 25925360 25925360 + Silent SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 15 25925360 25925360 C T SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known silent c.3774 p.P1258 0.940 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 ATP10A HGNC ENSG00000206190 188 0 0 136 61 30.9645 SPTBN5 0 genome.wustl.edu 37 15 42145460 42145460 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 15 42145460 42145460 G A SNP SPTBN5 ENST00000320955 human ensembl 74_37 -1 known missense c.10166 p.A3389V 0.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 79 0 0 64 6 8.57143 MKL2 0 genome.wustl.edu 37 16 14340402 14340402 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 16 14340402 14340402 C T SNP MKL2 ENST00000341243 human ensembl 74_37 +1 known missense c.1252 p.R418C 1.000 pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MKL2 HGNC ENSG00000186260 78 0 0 10 35 77.7778 TUFM 0 genome.wustl.edu 37 16 28856763 28856763 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 16 28856763 28856763 C T SNP TUFM ENST00000313511 human ensembl 74_37 -1 known missense c.286 p.E96K 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,tigrfam_Transl_elong_EFTu/EF1A_bac/org pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EFTu/EF1A_bac/org - no_errors TUFM HGNC ENSG00000178952 129 0 0 28 45 61.6438 AXIN1 0 genome.wustl.edu 37 16 347814 347814 + Nonsense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 16 347814 347814 C T SNP AXIN1 ENST00000262320 human ensembl 74_37 -1 known nonsense c.1692 p.W564* 1.000 NULL pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN1 HGNC ENSG00000103126 42 0 0 11 10 47.619 CREBBP 0 genome.wustl.edu 37 16 3807913 3807913 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 16 3807913 3807913 C T SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known missense c.3506 p.R1169H 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 114 0 0 22 45 67.1642 HYDIN 0 genome.wustl.edu 37 16 70917863 70917863 + Silent SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 16 70917863 70917863 G A SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative silent c.9939 p.A3313 0.013 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 71 0 0 27 56 67.4699 PHLPP2 0 genome.wustl.edu 37 16 71683255 71683255 + Missense_Mutation SNP G G C TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 16 71683255 71683255 G C SNP PHLPP2 ENST00000356272 human ensembl 74_37 -1 known missense c.3510 p.D1170E 0.994 NULL pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom - no_errors PHLPP2 HGNC ENSG00000040199 82 0 0 114 10 8.06452 ADAD2 0 genome.wustl.edu 37 16 84228102 84228102 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 16 84228102 84228102 C T SNP ADAD2 ENST00000268624 human ensembl 74_37 +1 known missense c.689 p.A230V 0.000 pfam_dsRNA-bd_dom,pfscan_dsRNA-bd_dom pfam_A_deamin,pfam_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADAD2 HGNC ENSG00000140955 29 0 0 35 3 7.89474 TVP23C 0 genome.wustl.edu 37 17 15441469 15441469 + Splice_Site SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 17 15441469 15441469 C T SNP TVP23C ENST00000523573 human ensembl 74_37 -1 known splice_site c.162-2 e5-2 0.998 - - - no_errors TVP23C HGNC ENSG00000175106 106 1 0.934579 104 9 7.9646 KCNJ12 0 genome.wustl.edu 37 17 21319222 21319222 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 17 21319222 21319222 C T SNP KCNJ12 ENST00000331718 human ensembl 74_37 +1 known missense c.568 p.R190W 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir 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_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 123 0 0 101 18 15.1261 ETV4 0 genome.wustl.edu 37 17 41606053 41606053 + Missense_Mutation SNP A A G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 17 41606053 41606053 A G SNP ETV4 ENST00000319349 human ensembl 74_37 -1 known missense c.1289 p.L430S 1.000 NULL pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,prints_Ets_dom,pfscan_Ets_dom - no_errors ETV4 HGNC ENSG00000175832 87 0 0 49 22 30.9859 LRRC37A2 0 genome.wustl.edu 37 17 44590246 44590246 + Silent SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 17 44590246 44590246 G A SNP LRRC37A2 ENST00000333412 human ensembl 74_37 +1 known silent c.168 p.P56 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A2 HGNC ENSG00000238083 253 0 0 195 66 25.2874 RAD51C 0 genome.wustl.edu 37 17 56772408 56772408 + Silent SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 17 56772408 56772408 C T SNP RAD51C ENST00000337432 human ensembl 74_37 +1 known silent c.262 p.L88 0.996 pfam_DNA_recomb/repair_Rad51_C,pirsf_DNA_recomb/repair_RecA-like pfam_DNA_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd - no_errors RAD51C HGNC ENSG00000108384 98 0 0 69 39 36.1111 DNAI2 0 genome.wustl.edu 37 17 72308268 72308268 + Missense_Mutation SNP C C G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 17 72308268 72308268 C G SNP DNAI2 ENST00000311014 human ensembl 74_37 +1 known missense c.1621 p.L541V 0.001 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DNAI2 HGNC ENSG00000171595 31 0 0 33 11 25 SMCHD1 0 genome.wustl.edu 37 18 2732472 2732472 + Silent SNP T T G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 18 2732472 2732472 T G SNP SMCHD1 ENST00000320876 human ensembl 74_37 +1 known silent c.3258 p.A1086 0.852 NULL pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_HATPase_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC ENSG00000101596 26 0 0 14 9 39.1304 EMILIN2 0 genome.wustl.edu 37 18 2890589 2890589 + Missense_Mutation SNP G G T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 18 2890589 2890589 G T SNP EMILIN2 ENST00000254528 human ensembl 74_37 +1 known missense c.464 p.R155M 0.988 NULL pfam_EMI_domain,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN2 HGNC ENSG00000132205 86 0 0 50 54 51.9231 CCDC178 0 genome.wustl.edu 37 18 30950133 30950133 + Missense_Mutation SNP A A C TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 18 30950133 30950133 A C SNP CCDC178 ENST00000406524 human ensembl 74_37 -1 known missense c.229 p.F77V 0.962 NULL NULL - no_errors CCDC178 HGNC ENSG00000166960 49 0 0 11 18 62.069 SYT4 0 genome.wustl.edu 37 18 40850383 40850383 + Missense_Mutation SNP C C A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 18 40850383 40850383 C A SNP SYT4 ENST00000255224 human ensembl 74_37 -1 known missense c.1201 p.G401C 0.958 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT4 HGNC ENSG00000132872 236 0 0 179 22 10.9453 L3MBTL4 0 genome.wustl.edu 37 18 6244515 6244515 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 18 6244515 6244515 G A SNP L3MBTL4 ENST00000284898 human ensembl 74_37 -1 known missense c.292 p.P98S 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL4 HGNC ENSG00000154655 164 0 0 187 37 16.5179 ABCA7 0 genome.wustl.edu 37 19 1047344 1047344 + Silent SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 19 1047344 1047344 G A SNP ABCA7 ENST00000263094 human ensembl 74_37 +1 known silent c.2034 p.R678 0.994 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA7 HGNC ENSG00000064687 31 0 0 18 12 40 SMARCA4 0 genome.wustl.edu 37 19 11141427 11141427 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 19 11141427 11141427 G A SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known missense c.3404 p.R1135Q 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 15 0 0 16 6 27.2727 ZNF442 0 genome.wustl.edu 37 19 12461806 12461806 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 19 12461806 12461806 C T SNP ZNF442 ENST00000242804 human ensembl 74_37 -1 known missense c.593 p.R198K 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF442 HGNC ENSG00000198342 168 0 0 120 57 32.2034 CD97 0 genome.wustl.edu 37 19 14507981 14507981 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 19 14507981 14507981 G A SNP CD97 ENST00000242786 human ensembl 74_37 +1 known missense c.571 p.G191S 0.966 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt - no_errors CD97 HGNC ENSG00000123146 187 0 0 121 60 33.1492 CPAMD8 0 genome.wustl.edu 37 19 17025610 17025610 + Missense_Mutation SNP C C G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 19 17025610 17025610 C G SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known missense c.3784 p.V1262L 1.000 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 47 0 0 40 26 39.3939 ZNF208 0 genome.wustl.edu 37 19 22157258 22157258 + Missense_Mutation SNP C C G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 19 22157258 22157258 C G SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.578 p.R193T 0.002 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF208 HGNC ENSG00000160321 88 0 0 48 36 42.8571 ZNF676 0 genome.wustl.edu 37 19 22364124 22364124 + Missense_Mutation SNP T T G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 19 22364124 22364124 T G SNP ZNF676 ENST00000397121 human ensembl 74_37 -1 known missense c.395 p.K132T 0.007 NULL pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 167 0 0 68 73 51.773 ZNF585A 0 genome.wustl.edu 37 19 37642910 37642910 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 19 37642910 37642910 C T SNP ZNF585A ENST00000356958 human ensembl 74_37 -1 known missense c.1891 p.E631K 0.972 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 ZNF585A HGNC ENSG00000196967 58 0 0 56 5 8.19672 ZNF780B 0 genome.wustl.edu 37 19 40542132 40542132 + Nonsense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 19 40542132 40542132 G A SNP ZNF780B ENST00000434248 human ensembl 74_37 -1 known nonsense c.634 p.Q212* 0.891 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 ZNF780B HGNC ENSG00000128000 88 0 0 23 66 74.1573 CHAF1A 0 genome.wustl.edu 37 19 4432024 4432024 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 19 4432024 4432024 G A SNP CHAF1A ENST00000301280 human ensembl 74_37 +1 known missense c.2023 p.G675R 1.000 NULL pfam_CAF1A - no_errors CHAF1A HGNC ENSG00000167670 143 0 0 79 52 39.6947 FUT1 0 genome.wustl.edu 37 19 49253837 49253837 + Silent SNP A A G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 19 49253837 49253837 A G SNP FUT1 ENST00000310160 human ensembl 74_37 -1 known silent c.702 p.G234 0.128 pfam_Glyco_trans_11 pfam_Glyco_trans_11 - no_errors FUT1 HGNC ENSG00000174951 197 0 0 144 83 36.5639 ZNF135 0 genome.wustl.edu 37 19 58574826 58574826 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 19 58574826 58574826 C T SNP ZNF135 ENST00000401053 human ensembl 74_37 +1 known missense c.209 p.P70L 0.000 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF135 HGNC ENSG00000176293 81 0 0 51 25 32.8947 A1BG 0 genome.wustl.edu 37 19 58862850 58862850 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 19 58862850 58862850 C T SNP A1BG ENST00000263100 human ensembl 74_37 -1 known missense c.817 p.D273N 0.003 smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors A1BG HGNC ENSG00000121410 101 0 0 122 88 41.9048 FIGN 0 genome.wustl.edu 37 2 164468121 164468121 + Missense_Mutation SNP T T G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 2 164468121 164468121 T G SNP FIGN ENST00000333129 human ensembl 74_37 -1 known missense c.221 p.K74T 1.000 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 188 0 0 184 81 30.566 CCDC173 0 genome.wustl.edu 37 2 170531264 170531264 + Missense_Mutation SNP T T G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 2 170531264 170531264 T G SNP CCDC173 ENST00000447353 human ensembl 74_37 -1 known missense c.484 p.S162R 1.000 NULL NULL - no_errors CCDC173 HGNC ENSG00000154479 23 0 0 16 14 46.6667 TTN 0 genome.wustl.edu 37 2 179406037 179406037 + Silent SNP G G T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 2 179406037 179406037 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.90063 p.S30021 1.000 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 10 0 0 11 4 26.6667 TTN 0 genome.wustl.edu 37 2 179427899 179427899 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 2 179427899 179427899 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.75256 p.V25086I 0.956 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 252 0 0 159 167 51.227 TTN 0 genome.wustl.edu 37 2 179606168 179606168 + Missense_Mutation SNP T T C TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 2 179606168 179606168 T C SNP TTN ENST00000342175 human ensembl 74_37 -1 known missense c.11279 p.K3760R 0.925 superfamily_RNaseH-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,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 226 0 0 142 166 53.8961 AOX1 0 genome.wustl.edu 37 2 201468739 201468739 + Splice_Site SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 2 201468739 201468739 G A SNP AOX1 ENST00000374700 human ensembl 74_37 +1 known splice_site c.589-1 e8-1 0.990 - - - no_errors AOX1 HGNC ENSG00000138356 57 0 0 72 28 28 MDH1B 0 genome.wustl.edu 37 2 207620043 207620043 + Silent SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 2 207620043 207620043 C T SNP MDH1B ENST00000374412 human ensembl 74_37 -1 known silent c.600 p.K200 0.000 NULL pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C - no_errors MDH1B HGNC ENSG00000138400 65 0 0 68 35 33.9806 MAP2 0 genome.wustl.edu 37 2 210517907 210517907 + Silent SNP C C A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 2 210517907 210517907 C A SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known silent c.13 p.R5 1.000 NULL pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 44 0 0 21 22 51.1628 KIF1A 0 genome.wustl.edu 37 2 241710439 241710439 + Silent SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 2 241710439 241710439 G A SNP KIF1A ENST00000498729 human ensembl 74_37 -1 known silent c.1290 p.H430 0.997 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 70 0 0 15 23 60.5263 MFSD2B 0 genome.wustl.edu 37 2 24236170 24236170 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 2 24236170 24236170 C T SNP MFSD2B ENST00000338315 human ensembl 74_37 +1 known missense c.112 p.R38C 0.972 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors MFSD2B HGNC ENSG00000205639 34 0 0 6 16 72.7273 XDH 0 genome.wustl.edu 37 2 31604589 31604589 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 2 31604589 31604589 C T SNP XDH ENST00000379416 human ensembl 74_37 -1 known missense c.1042 p.V348I 0.994 pfam_Mopterin_DH_FAD-bd,superfamily_FAD-bd_2,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Xanthine_DH_ssu pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 38 0 0 6 15 71.4286 CCT7 0 genome.wustl.edu 37 2 73477515 73477515 + Silent SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 2 73477515 73477515 G A SNP CCT7 ENST00000258091 human ensembl 74_37 +1 known silent c.1152 p.E384 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,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 182 0 0 104 52 33.3333 LRRTM4 0 genome.wustl.edu 37 2 77746764 77746764 + Missense_Mutation SNP T T G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 2 77746764 77746764 T G SNP LRRTM4 ENST00000409911 human ensembl 74_37 -1 known missense c.234 p.K78N 0.903 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM4 HGNC ENSG00000176204 129 0 0 80 47 37.0079 REG1B 0 genome.wustl.edu 37 2 79312711 79312711 + Missense_Mutation SNP T T G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 2 79312711 79312711 T G SNP REG1B ENST00000305089 human ensembl 74_37 -1 known missense c.340 p.S114R 0.283 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors REG1B HGNC ENSG00000172023 84 0 0 37 26 41.2698 LRRTM1 0 genome.wustl.edu 37 2 80530700 80530700 + Missense_Mutation SNP G G T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 2 80530700 80530700 G T SNP LRRTM1 ENST00000295057 human ensembl 74_37 -1 known missense c.245 p.A82D 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 137 0 0 86 50 36.7647 USP39 0 genome.wustl.edu 37 2 85843575 85843575 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 2 85843575 85843575 G A SNP USP39 ENST00000409470 human ensembl 74_37 +1 known missense c.257 p.R86Q 1.000 NULL pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP39 HGNC ENSG00000168883 23 0 0 10 17 62.963 NKX2-2 0 genome.wustl.edu 37 20 21492735 21492735 + Silent SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 20 21492735 21492735 G A SNP NKX2-2 ENST00000377142 human ensembl 74_37 -1 known silent c.648 p.H216 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-2 HGNC ENSG00000125820 56 0 0 60 39 39.3939 TGM3 0 genome.wustl.edu 37 20 2298127 2298127 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 20 2298127 2298127 G A SNP TGM3 ENST00000381458 human ensembl 74_37 +1 known missense c.979 p.V327I 0.001 pfam_Transglutaminase-like,smart_Transglutaminase-like pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM3 HGNC ENSG00000125780 200 0 0 132 96 42.1053 MYLK2 0 genome.wustl.edu 37 20 30414687 30414687 + Silent SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 20 30414687 30414687 C T SNP MYLK2 ENST00000375985 human ensembl 74_37 +1 known silent c.1170 p.I390 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 MYLK2 HGNC ENSG00000101306 64 0 0 35 44 55.6962 RPRD1B 0 genome.wustl.edu 37 20 36668908 36668908 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 20 36668908 36668908 C T SNP RPRD1B ENST00000373433 human ensembl 74_37 +1 known missense c.223 p.P75S 1.000 pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom - no_errors RPRD1B HGNC ENSG00000101413 122 0 0 101 63 38.4146 SLC32A1 0 genome.wustl.edu 37 20 37353700 37353700 + Silent SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 20 37353700 37353700 C T SNP SLC32A1 ENST00000217420 human ensembl 74_37 +1 known silent c.333 p.H111 0.791 NULL pfam_AA_transpt_TM - no_errors SLC32A1 HGNC ENSG00000101438 123 0 0 80 44 35.4839 L3MBTL1 0 genome.wustl.edu 37 20 42165076 42165076 + Silent SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 20 42165076 42165076 G A SNP L3MBTL1 ENST00000418998 human ensembl 74_37 +1 known silent c.2085 p.K695 1.000 NULL pfam_Mbt,pfam_Znf_C2HC,superfamily_SAM/pointed,smart_Mbt,pfscan_Mbt - no_errors L3MBTL1 HGNC ENSG00000185513 129 0 0 117 47 28.6585 FITM2 0 genome.wustl.edu 37 20 42935516 42935516 + Nonsense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 20 42935516 42935516 G A SNP FITM2 ENST00000396825 human ensembl 74_37 -1 known nonsense c.538 p.R180* 0.010 pfam_FIT pfam_FIT - no_errors FITM2 HGNC ENSG00000197296 78 0 0 42 34 44.7368 ADNP 0 genome.wustl.edu 37 20 49508238 49508238 + Missense_Mutation SNP C C A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 20 49508238 49508238 C A SNP ADNP ENST00000349014 human ensembl 74_37 -1 known missense c.3013 p.D1005Y 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP HGNC ENSG00000101126 136 0 0 96 60 38.4615 MC3R 0 genome.wustl.edu 37 20 54824819 54824819 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 20 54824819 54824819 G A SNP MC3R ENST00000243911 human ensembl 74_37 +1 known missense c.920 p.R307H 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_3_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC3R HGNC ENSG00000124089 207 0 0 127 86 40.3756 PCNT 0 genome.wustl.edu 37 21 47860931 47860931 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 21 47860931 47860931 G A SNP PCNT ENST00000359568 human ensembl 74_37 +1 known missense c.9557 p.R3186Q 0.890 pfam_PACT_domain pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 109 1 0.909091 75 6 7.40741 PHF21B 0 genome.wustl.edu 37 22 45312223 45312223 + Silent SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 22 45312223 45312223 G A SNP PHF21B ENST00000313237 human ensembl 74_37 -1 known silent c.501 p.T167 0.939 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21B HGNC ENSG00000056487 34 0 0 21 8 27.5862 PLXNB2 0 genome.wustl.edu 37 22 50722306 50722306 + Silent SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 22 50722306 50722306 G A SNP PLXNB2 ENST00000359337 human ensembl 74_37 -1 known silent c.2377 p.L793 0.999 superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB2 HGNC ENSG00000196576 28 0 0 12 5 29.4118 CD47 0 genome.wustl.edu 37 3 107798992 107798992 + Silent SNP A A G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 3 107798992 107798992 A G SNP CD47 ENST00000361309 human ensembl 74_37 -1 known silent c.246 p.S82 0.000 pfam_CD47_Vset,pfscan_Ig-like_dom pfam_CD47_Vset,pfam_CD47_TM,pfscan_Ig-like_dom - no_errors CD47 HGNC ENSG00000196776 166 1 0.598802 88 68 43.5897 EPHB1 0 genome.wustl.edu 37 3 134873017 134873017 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 3 134873017 134873017 C T SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known missense c.1321 p.H441Y 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 259 0 0 138 84 37.8378 TP63 0 genome.wustl.edu 37 3 189526314 189526314 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 3 189526314 189526314 C T SNP TP63 ENST00000264731 human ensembl 74_37 +1 known missense c.578 p.T193M 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP63 HGNC ENSG00000073282 106 0 0 112 28 20 SCN10A 0 genome.wustl.edu 37 3 38739984 38739984 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 3 38739984 38739984 C T SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known missense c.4727 p.R1576H 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 144 0 0 102 7 6.42202 ACKR2 0 genome.wustl.edu 37 3 42906640 42906640 + Missense_Mutation SNP C C A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 3 42906640 42906640 C A SNP ACKR2 ENST00000273145 human ensembl 74_37 +1 known missense c.646 p.L216I 0.005 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_ATII_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_ATII_rcpt,prints_Chemokine_CXCR4 - no_errors ACKR2 HGNC ENSG00000144648 222 0 0 133 78 36.9668 PTH1R 0 genome.wustl.edu 37 3 46940163 46940163 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 3 46940163 46940163 G A SNP PTH1R ENST00000313049 human ensembl 74_37 +1 known missense c.650 p.C217Y 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_parathyroid_rcpt - no_errors PTH1R HGNC ENSG00000160801 83 0 0 48 10 17.2414 SETD2 0 genome.wustl.edu 37 3 47087998 47087998 + Silent SNP C C A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 3 47087998 47087998 C A SNP SETD2 ENST00000409792 human ensembl 74_37 -1 known silent c.7077 p.G2359 0.956 NULL pfam_SRI,pfam_SET_dom,pfam_WW_dom,superfamily_WW_dom,superfamily_Ferritin-like_SF,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_dom,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_dom - no_errors SETD2 HGNC ENSG00000181555 71 0 0 41 32 43.8356 USP19 0 genome.wustl.edu 37 3 49153507 49153507 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 3 49153507 49153507 C T SNP USP19 ENST00000398888 human ensembl 74_37 -1 known missense c.1141 p.G381R 1.000 superfamily_HSP20-like_chaperone,pfscan_CS_dom pfam_Peptidase_C19/C67,pfam_Znf_MYND,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom,pfscan_Znf_MYND,pfscan_Peptidase_C19/C67 - no_errors USP19 HGNC ENSG00000172046 75 0 0 52 5 8.77193 LAMB2 0 genome.wustl.edu 37 3 49161697 49161697 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 3 49161697 49161697 C T SNP LAMB2 ENST00000305544 human ensembl 74_37 -1 known missense c.3350 p.R1117H 0.029 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 84 0 0 38 20 34.4828 SFMBT1 0 genome.wustl.edu 37 3 52941197 52941197 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 3 52941197 52941197 G A SNP SFMBT1 ENST00000358080 human ensembl 74_37 -1 known missense c.2219 p.S740F 0.992 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT1 HGNC ENSG00000163935 120 1 0.826446 124 16 11.4286 FLNB 0 genome.wustl.edu 37 3 58111472 58111472 + Splice_Site SNP T T C TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 3 58111472 58111472 T C SNP FLNB ENST00000295956 human ensembl 74_37 +1 known splice_site c.4061+2 e23+2 1.000 - - - no_errors FLNB HGNC ENSG00000136068 127 0 0 120 9 6.97674 EPHA3 0 genome.wustl.edu 37 3 89259055 89259055 + Missense_Mutation SNP A A G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 3 89259055 89259055 A G SNP EPHA3 ENST00000336596 human ensembl 74_37 +1 known missense c.199 p.T67A 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA3 HGNC ENSG00000044524 50 0 0 31 12 27.907 FGA 0 genome.wustl.edu 37 4 155510669 155510669 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 4 155510669 155510669 C T SNP FGA ENST00000302053 human ensembl 74_37 -1 known missense c.100 p.V34M 0.004 NULL pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FGA HGNC ENSG00000171560 141 0 0 92 6 6.12245 WHSC1 0 genome.wustl.edu 37 4 1980601 1980601 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 4 1980601 1980601 C T SNP WHSC1 ENST00000382891 human ensembl 74_37 +1 known missense c.4063 p.R1355W 0.005 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom - no_errors WHSC1 HGNC ENSG00000109685 20 0 0 22 16 42.1053 WDR19 0 genome.wustl.edu 37 4 39269634 39269634 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 4 39269634 39269634 G A SNP WDR19 ENST00000399820 human ensembl 74_37 +1 known missense c.3281 p.R1094H 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR19 HGNC ENSG00000157796 24 0 0 4 5 55.5556 WDFY3 0 genome.wustl.edu 37 4 85638087 85638087 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 4 85638087 85638087 C T SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.7837 p.D2613N 1.000 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 158 0 0 133 117 46.8 IBSP 0 genome.wustl.edu 37 4 88732877 88732877 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 4 88732877 88732877 G A SNP IBSP ENST00000226284 human ensembl 74_37 +1 known missense c.769 p.V257I 0.000 pfam_BSP_II pfam_BSP_II - no_errors IBSP HGNC ENSG00000029559 56 0 0 29 58 66.6667 HERC6 0 genome.wustl.edu 37 4 89304411 89304411 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 4 89304411 89304411 G A SNP HERC6 ENST00000264346 human ensembl 74_37 +1 known missense c.238 p.V80M 0.948 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC6 HGNC ENSG00000138642 13 0 0 21 9 30 SLCO4C1 0 genome.wustl.edu 37 5 101592894 101592894 + Missense_Mutation SNP A A C TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 5 101592894 101592894 A C SNP SLCO4C1 ENST00000310954 human ensembl 74_37 -1 known missense c.1394 p.L465R 0.027 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO4C1 HGNC ENSG00000173930 81 0 0 124 17 12.0567 KCNN2 0 genome.wustl.edu 37 5 113698764 113698764 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 5 113698764 113698764 G A SNP KCNN2 ENST00000264773 human ensembl 74_37 +1 known missense c.292 p.G98R 1.000 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN2 HGNC ENSG00000080709 19 0 0 20 9 31.0345 PCDHGA4 0 genome.wustl.edu 37 5 140734952 140734952 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 5 140734952 140734952 G A SNP PCDHGA4 ENST00000571252 human ensembl 74_37 +1 known missense c.185 p.R62H 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA4 HGNC ENSG00000262576 160 0 0 93 26 21.8487 CD74 0 genome.wustl.edu 37 5 149786487 149786487 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 5 149786487 149786487 G A SNP CD74 ENST00000009530 human ensembl 74_37 -1 known missense c.335 p.P112L 0.553 pfam_MHC_II-assoc_invar/CLIP_MHC-bd,pirsf_MHC_II-assoc_invar_chain,prints_MHC_II-assoc_invar_chain pfam_MHC_II-assoc_invar/CLIP_MHC-bd,pfam_MHC_II-assoc_invariant_trimer,pfam_Thyroglobulin_1,superfamily_MHC_II-assoc_invariant_trimer,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_MHC_II-assoc_invar_chain,pfscan_Thyroglobulin_1,prints_MHC_II-assoc_invar_chain - no_errors CD74 HGNC ENSG00000019582 12 0 0 7 8 53.3333 FAT2 0 genome.wustl.edu 37 5 150889712 150889712 + Nonsense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 5 150889712 150889712 G A SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known nonsense c.11929 p.Q3977* 0.001 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 187 0 0 81 30 27.027 FAT2 0 genome.wustl.edu 37 5 150924479 150924479 + Missense_Mutation SNP A A T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 5 150924479 150924479 A T SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.6209 p.F2070Y 0.987 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 110 0 0 65 44 40.367 GLRA1 0 genome.wustl.edu 37 5 151202370 151202370 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 5 151202370 151202370 C T SNP GLRA1 ENST00000455880 human ensembl 74_37 -1 known missense c.1238 p.R413Q 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Glycine_rcpt_A1,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA1 HGNC ENSG00000145888 143 0 0 52 22 29.7297 GABRA1 0 genome.wustl.edu 37 5 161324161 161324161 + Nonsense_Mutation SNP C C A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 5 161324161 161324161 C A SNP GABRA1 ENST00000023897 human ensembl 74_37 +1 known nonsense c.1104 p.Y368* 0.994 superfamily_Neurotrans-gated_channel_TM,prints_GABBAa1_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA1 HGNC ENSG00000022355 182 1 0.546448 90 38 29.6875 PDLIM7 0 genome.wustl.edu 37 5 176911090 176911090 + Silent SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 5 176911090 176911090 G A SNP PDLIM7 ENST00000355841 human ensembl 74_37 -1 known silent c.1152 p.G384 0.954 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM7 HGNC ENSG00000196923 89 0 0 51 17 25 TRIM41 0 genome.wustl.edu 37 5 180661326 180661326 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 5 180661326 180661326 C T SNP TRIM41 ENST00000315073 human ensembl 74_37 +1 known missense c.1444 p.R482C 1.000 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,pfam_DUF3631,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM41 HGNC ENSG00000146063 43 0 0 25 11 30.5556 CDH12 0 genome.wustl.edu 37 5 21755708 21755708 + Missense_Mutation SNP A A T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 5 21755708 21755708 A T SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known missense c.1877 p.I626K 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 53 0 0 37 5 11.9048 CDH12 0 genome.wustl.edu 37 5 21755928 21755928 + Nonsense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 5 21755928 21755928 G A SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known nonsense c.1657 p.R553* 0.986 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 101 0 0 19 95 83.3333 CDH12 0 genome.wustl.edu 37 5 21817188 21817188 + Missense_Mutation SNP T T C TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 5 21817188 21817188 T C SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known missense c.868 p.R290G 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 114 1 0.869565 30 105 77.7778 AHRR 0 genome.wustl.edu 37 5 353860 353860 + Silent SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 5 353860 353860 G A SNP AHRR ENST00000316418 human ensembl 74_37 +1 known silent c.90 p.G30 0.016 pfscan_bHLH_dom pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors AHRR HGNC ENSG00000063438 68 0 0 59 5 7.8125 PDE7B 0 genome.wustl.edu 37 6 136512828 136512828 + Missense_Mutation SNP C C A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 6 136512828 136512828 C A SNP PDE7B ENST00000308191 human ensembl 74_37 +1 known missense c.1203 p.N401K 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE7B HGNC ENSG00000171408 43 0 0 25 10 28.5714 GRM1 0 genome.wustl.edu 37 6 146351069 146351069 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 6 146351069 146351069 G A SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.416 p.R139Q 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3_mtglu_rcpt_5 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 124 0 0 55 52 48.5981 GRM1 0 genome.wustl.edu 37 6 146720814 146720814 + Missense_Mutation SNP A A C TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 6 146720814 146720814 A C SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.2639 p.K880T 1.000 prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3_mtglu_rcpt_5 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 48 0 0 26 13 33.3333 HMGCLL1 0 genome.wustl.edu 37 6 55443799 55443799 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 6 55443799 55443799 G A SNP HMGCLL1 ENST00000398661 human ensembl 74_37 -1 known missense c.55 p.R19W 1.000 NULL pfam_PYR_CT,pfscan_PYR_CT - no_errors HMGCLL1 HGNC ENSG00000146151 37 0 0 33 28 45.9016 POU3F2 0 genome.wustl.edu 37 6 99282855 99282855 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 6 99282855 99282855 G A SNP POU3F2 ENST00000328345 human ensembl 74_37 +1 known missense c.106 p.E36K 1.000 pirsf_Transcription_factor_POU pirsf_Transcription_factor_POU,pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F2 HGNC ENSG00000184486 41 0 0 35 25 41.6667 DOCK4 0 genome.wustl.edu 37 7 111377017 111377017 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 7 111377017 111377017 C T SNP DOCK4 ENST00000428084 human ensembl 74_37 -1 known missense c.5261 p.G1754E 0.714 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 16 0 0 9 5 35.7143 C7orf33 0 genome.wustl.edu 37 7 148288045 148288045 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 7 148288045 148288045 C T SNP C7orf33 ENST00000307003 human ensembl 74_37 +1 known missense c.28 p.L10F 0.003 NULL NULL - no_errors C7orf33 HGNC ENSG00000170279 79 0 0 44 14 24.1379 WIPF3 0 genome.wustl.edu 37 7 29929023 29929023 + Missense_Mutation SNP A A C TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 7 29929023 29929023 A C SNP WIPF3 ENST00000242140 human ensembl 74_37 +1 known missense c.1351 p.S451R 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WIPF3 HGNC ENSG00000122574 37 0 0 27 16 37.2093 IKZF1 0 genome.wustl.edu 37 7 50468308 50468308 + Missense_Mutation SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 7 50468308 50468308 C T SNP IKZF1 ENST00000331340 human ensembl 74_37 +1 known missense c.1543 p.R515C 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF1 HGNC ENSG00000185811 36 0 0 19 20 51.2821 ZNF92 0 genome.wustl.edu 37 7 64863276 64863276 + Silent SNP A A G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 7 64863276 64863276 A G SNP ZNF92 ENST00000328747 human ensembl 74_37 +1 known silent c.249 p.Q83 0.007 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF92 HGNC ENSG00000146757 72 0 0 37 25 40.3226 RIMS2 0 genome.wustl.edu 37 8 104924394 104924394 + Silent SNP C C A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 8 104924394 104924394 C A SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known silent c.1806 p.G602 0.786 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ 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 112 0 0 61 60 49.5868 KCNQ3 0 genome.wustl.edu 37 8 133175738 133175738 + Silent SNP T T C TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 8 133175738 133175738 T C SNP KCNQ3 ENST00000388996 human ensembl 74_37 -1 known silent c.1239 p.K413 1.000 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 76 0 0 51 39 43.3333 TG 0 genome.wustl.edu 37 8 134024163 134024163 + Missense_Mutation SNP C C A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 8 134024163 134024163 C A SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.6280 p.Q2094K 1.000 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 539 1 0.185185 334 243 42.1144 PPP1R16A 0 genome.wustl.edu 37 8 145722583 145722583 + Silent SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 8 145722583 145722583 C T SNP PPP1R16A ENST00000292539 human ensembl 74_37 +1 known silent c.6 p.A2 1.000 pirsf_Pase-1_reg_su_16AB_euk pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PPP1R16A HGNC ENSG00000160972 8 0 0 12 8 40 CSMD1 0 genome.wustl.edu 37 8 2800106 2800106 + Missense_Mutation SNP C C A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 8 2800106 2800106 C A SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.10426 p.D3476Y 0.994 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 14 0 0 7 8 53.3333 C8orf34 0 genome.wustl.edu 37 8 69552617 69552617 + Missense_Mutation SNP T T C TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 8 69552617 69552617 T C SNP C8orf34 ENST00000518698 human ensembl 74_37 +1 known missense c.1112 p.L371P 1.000 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C8orf34 HGNC ENSG00000165084 67 0 0 42 30 41.6667 MSANTD3 0 genome.wustl.edu 37 9 103204414 103204414 + Missense_Mutation SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 9 103204414 103204414 G A SNP MSANTD3 ENST00000395067 human ensembl 74_37 +1 known missense c.194 p.R65Q 1.000 NULL NULL - no_errors MSANTD3 HGNC ENSG00000066697 60 0 0 33 26 44.0678 PALM2 0 genome.wustl.edu 37 9 112705558 112705558 + Silent SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 9 112705558 112705558 C T SNP PALM2 ENST00000448454 human ensembl 74_37 +1 known silent c.1095 p.D365 0.901 pfam_Paralemmin pfam_Paralemmin - no_errors PALM2 HGNC ENSG00000243444 153 0 0 94 53 36.0544 EXD3 0 genome.wustl.edu 37 9 140242607 140242607 + Silent SNP C C A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 9 140242607 140242607 C A SNP EXD3 ENST00000340951 human ensembl 74_37 -1 known silent c.1914 p.L638 1.000 pfam_Mut7-C_RNAse_dom pfam_Mut7-C_RNAse_dom,pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD3 HGNC ENSG00000187609 26 0 0 19 8 29.6296 RNA5SP283 0 genome.wustl.edu 37 9 66458183 66458183 + RNA SNP A A G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 9 66458183 66458183 A G SNP RNA5SP283 ENST00000365604 human ensembl 74_37 -1 known rna NULL NULL 0.017 - - - no_errors RNA5SP283 HGNC ENSG00000202474 13 0 0 12 4 25 LOC100996870 0 genome.wustl.edu 37 9 66466418 66466418 + RNA SNP C C T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 9 66466418 66466418 C T SNP LOC100996870 ENST00000424345 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 10 0 0 15 3 16.6667 LOC100996870 0 genome.wustl.edu 37 9 66468984 66468984 + RNA SNP A A C TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 9 66468984 66468984 A C SNP LOC100996870 ENST00000424345 human ensembl 74_37 +1 known rna NULL NULL 0.040 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 11 0 0 11 5 31.25 TRPM3 0 genome.wustl.edu 37 9 73442845 73442845 + Silent SNP G G A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 9 73442845 73442845 G A SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known silent c.897 p.N299 0.978 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 191 0 0 111 54 32.7273 TGIF2LY 0 genome.wustl.edu 37 Y 3447740 3447740 + Missense_Mutation SNP C C A TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 Y 3447740 3447740 C A SNP TGIF2LY ENST00000321217 human ensembl 74_37 +1 known missense c.455 p.T152K 0.035 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors TGIF2LY HGNC ENSG00000176679 49 0 0 12 41 77.3585 PLEKHA6 0 genome.wustl.edu 37 1 204199652 204199653 + Frame_Shift_Ins INS - - T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 204199652 204199653 - T INS PLEKHA6 ENST00000272203 human ensembl 74_37 -1 known frame_shift_ins c.2472_2471 p.I825fs 1.000:1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC ENSG00000143850 22 0 0 19 9 32.1429 FGGY 0 genome.wustl.edu 37 1 59812016 59812017 + Frame_Shift_Ins INS - - G TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 1 59812016 59812017 - G INS FGGY ENST00000303721 human ensembl 74_37 +1 known frame_shift_ins c.411_412 p.V139fs 0.394:0.997 pfam_Carb_kinase_FGGY_N,tigrfam_Carb_kinase_FGGY-rel pfam_Carb_kinase_FGGY_C,pfam_Carb_kinase_FGGY_N,tigrfam_Carb_kinase_FGGY-rel - no_errors FGGY HGNC ENSG00000172456 75 0 0 67 21 23.8636 MMP12 0 genome.wustl.edu 37 11 102738793 102738794 + RNA INS - - T TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 11 102738793 102738794 - T INS MMP12 ENST00000326227 human ensembl 74_37 -1 known rna NULL NULL 0.975:1.000 - - - no_errors MMP12 HGNC ENSG00000110347 8 0 0 23 4 14.8148 EEF1DP3 0 genome.wustl.edu 37 13 32527507 32527508 + RNA DEL GT GT - TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 13 32527507 32527508 GT - DEL EEF1DP3 ENST00000428783 human ensembl 74_37 +1 known rna NULL NULL 0.006:0.035 - - - no_errors EEF1DP3 HGNC ENSG00000229715 82 0 0 85 5 5.55556 TP53 0 genome.wustl.edu 37 17 7578470 7578482 + Frame_Shift_Del DEL CGGGCGGGGGTGT CGGGCGGGGGTGT - TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 CGGGCGGGGGTGT CGGGCGGGGGTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 17 7578470 7578482 CGGGCGGGGGTGT - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.460_448 p.T150fs 0.872:0.000:0.000:0.000:0.000:1.000:1.000:0.921:0.999:0.999:0.001:0.002:0.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 89 0 0 26 41 61.194 SEH1L 0 genome.wustl.edu 37 18 12986927 12986929 + In_Frame_Del DEL TCC TCC - TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 18 12986927 12986929 TCC - DEL SEH1L ENST00000399892 human ensembl 74_37 +1 known in_frame_del c.1137_1139 p.P383in_frame_del 0.997:1.000:1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors SEH1L HGNC ENSG00000085415 70 0 0 85 6 6.59341 LAT2 0 genome.wustl.edu 37 7 73635050 73635052 + In_Frame_Del DEL GGA GGA - TCGA-IN-A6RR-01A-12D-A32N-08 TCGA-IN-A6RR-10A-01D-A32N-08 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 030186a3-4c51-4835-bc8f-2301b10aa0ad 6019dd4f-63a8-4fe0-82c4-f77a19d397a7 7 73635050 73635052 GGA - DEL LAT2 ENST00000275635 human ensembl 74_37 +1 known in_frame_del c.318_320 p.E108in_frame_del 0.001:0.032:0.030 NULL NULL - no_errors LAT2 HGNC ENSG00000086730 25 0 0 12 6 33.3333