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 COL11A1 0 genome.wustl.edu 37 1 103471441 103471441 + Nonsense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 1 103471441 103471441 G A SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known nonsense c.1834 p.R612* 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 152 0 0 128 48 27.2727 AKNAD1 0 genome.wustl.edu 37 1 109395176 109395176 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 1 109395176 109395176 T G SNP AKNAD1 ENST00000370001 human ensembl 74_37 -1 known missense c.111 p.K37N 0.000 NULL pfam_TF_AT-hook - no_errors AKNAD1 HGNC ENSG00000162641 202 0 0 156 65 29.4118 GSTM2 0 genome.wustl.edu 37 1 110211094 110211094 + Silent SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 1 110211094 110211094 C T SNP GSTM2 ENST00000241337 human ensembl 74_37 +1 known silent c.84 p.Y28 0.984 pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_mu - no_errors GSTM2 HGNC ENSG00000213366 148 0 0 102 55 35.0318 CSDE1 0 genome.wustl.edu 37 1 115268968 115268968 + Nonsense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 1 115268968 115268968 G A SNP CSDE1 ENST00000369530 human ensembl 74_37 -1 known nonsense c.1549 p.Q517* 1.000 superfamily_NA-bd_OB-fold pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot - no_errors CSDE1 HGNC ENSG00000009307 133 0 0 82 45 35.4331 VPS13D 0 genome.wustl.edu 37 1 12336395 12336395 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 1 12336395 12336395 T G SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known missense c.2750 p.I917S 1.000 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 80 0 0 54 31 36.4706 PDE4DIP 0 genome.wustl.edu 37 1 144879446 144879446 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 1 144879446 144879446 T G SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known missense c.4004 p.Q1335P 0.016 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 433 0 0 369 57 13.3803 ANKRD35 0 genome.wustl.edu 37 1 145562407 145562407 + Missense_Mutation SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 1 145562407 145562407 A G SNP ANKRD35 ENST00000355594 human ensembl 74_37 +1 known missense c.2095 p.S699G 0.951 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD35 HGNC ENSG00000198483 56 0 0 28 22 44 FMO5 0 genome.wustl.edu 37 1 146684985 146684985 + Nonsense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 1 146684985 146684985 C T SNP FMO5 ENST00000254090 human ensembl 74_37 -1 known nonsense c.377 p.W126* 1.000 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1 - no_errors FMO5 HGNC ENSG00000131781 452 0 0 306 132 30.137 HORMAD1 0 genome.wustl.edu 37 1 150686581 150686581 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 1 150686581 150686581 C T SNP HORMAD1 ENST00000361824 human ensembl 74_37 -1 known missense c.259 p.D87N 1.000 pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd - no_errors HORMAD1 HGNC ENSG00000143452 196 0 0 107 24 18.3206 TCHH 0 genome.wustl.edu 37 1 152085274 152085274 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 1 152085274 152085274 T G SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.419 p.K140T 0.049 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 442 0 0 271 138 33.7408 RUSC1 0 genome.wustl.edu 37 1 155297950 155297950 + Silent SNP T T C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 1 155297950 155297950 T C SNP RUSC1 ENST00000368352 human ensembl 74_37 +1 known silent c.2424 p.S808 1.000 NULL pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC1 HGNC ENSG00000160753 395 0 0 264 139 34.4913 FCRL4 0 genome.wustl.edu 37 1 157545319 157545319 + Missense_Mutation SNP T T C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 1 157545319 157545319 T C SNP FCRL4 ENST00000271532 human ensembl 74_37 -1 known missense c.1543 p.S515G 0.001 NULL pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL4 HGNC ENSG00000163518 79 0 0 57 26 31.3253 IFI16 0 genome.wustl.edu 37 1 158986326 158986326 + Missense_Mutation SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 1 158986326 158986326 A G SNP IFI16 ENST00000295809 human ensembl 74_37 +1 known missense c.385 p.R129G 0.729 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC ENSG00000163565 35 0 0 27 17 38.6364 IFI16 0 genome.wustl.edu 37 1 159021773 159021773 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 1 159021773 159021773 G A SNP IFI16 ENST00000295809 human ensembl 74_37 +1 known missense c.1970 p.R657Q 0.000 pfam_HIN200/IF120x,pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC ENSG00000163565 149 0 0 81 42 34.1463 LRRC52 0 genome.wustl.edu 37 1 165513858 165513858 + Missense_Mutation SNP A A C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 1 165513858 165513858 A C SNP LRRC52 ENST00000294818 human ensembl 74_37 +1 known missense c.325 p.S109R 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC52 HGNC ENSG00000162763 412 0 0 253 132 34.2857 CD247 0 genome.wustl.edu 37 1 167404663 167404663 + Silent SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 1 167404663 167404663 C T SNP CD247 ENST00000362089 human ensembl 74_37 -1 known silent c.309 p.R103 1.000 NULL pfam_Phos_immunorcpt_sig_ITAM,pfam_CR3_zeta/IgE_Fc_rcpt_gamma,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM - no_errors CD247 HGNC ENSG00000198821 71 0 0 46 18 28.125 FMO2 0 genome.wustl.edu 37 1 171168622 171168622 + Missense_Mutation SNP G G T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 1 171168622 171168622 G T SNP FMO2 ENST00000209929 human ensembl 74_37 +1 known missense c.622 p.A208S 0.920 pfam_Flavin_mOase-like,prints_Flavin_mOase,prints_Flavin_mOase_1,prints_Flavin_mOase_5 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_2,prints_Flavin_mOase_1,prints_Flavin_mOase_5 - no_errors FMO2 HGNC ENSG00000094963 219 0 0 125 42 25.1497 PRRC2C 0 genome.wustl.edu 37 1 171553241 171553241 + Missense_Mutation SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 1 171553241 171553241 A G SNP PRRC2C ENST00000392078 human ensembl 74_37 +1 known missense c.7556 p.Q2519R 1.000 NULL pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 348 0 0 270 84 23.7288 HMCN1 0 genome.wustl.edu 37 1 185932925 185932925 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 1 185932925 185932925 T G SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.1996 p.L666V 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 210 0 0 140 43 23.4973 CFHR5 0 genome.wustl.edu 37 1 196964892 196964892 + Missense_Mutation SNP A A C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 1 196964892 196964892 A C SNP CFHR5 ENST00000367414 human ensembl 74_37 +1 known missense c.725 p.E242A 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR5 HGNC ENSG00000134389 135 0 0 86 37 30.0813 KIF14 0 genome.wustl.edu 37 1 200539132 200539132 + Missense_Mutation SNP T T A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 1 200539132 200539132 T A SNP KIF14 ENST00000367350 human ensembl 74_37 -1 known missense c.3568 p.S1190C 1.000 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF14 HGNC ENSG00000118193 147 0 0 97 54 35.7616 SYT2 0 genome.wustl.edu 37 1 202573584 202573584 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 1 202573584 202573584 T G SNP SYT2 ENST00000367267 human ensembl 74_37 -1 known missense c.344 p.Q115P 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT2 HGNC ENSG00000143858 275 0 0 171 64 27.234 CAMK1G 0 genome.wustl.edu 37 1 209778918 209778918 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 1 209778918 209778918 C T SNP CAMK1G ENST00000009105 human ensembl 74_37 +1 known missense c.334 p.R112W 0.996 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 CAMK1G HGNC ENSG00000008118 220 0 0 124 59 32.2404 KIF17 0 genome.wustl.edu 37 1 21031296 21031296 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 1 21031296 21031296 C T SNP KIF17 ENST00000247986 human ensembl 74_37 -1 known missense c.767 p.R256Q 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF17 HGNC ENSG00000117245 69 0 0 20 56 73.6842 EIF4G3 0 genome.wustl.edu 37 1 21177780 21177780 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 1 21177780 21177780 T G SNP EIF4G3 ENST00000374937 human ensembl 74_37 -1 known missense c.3593 p.E1198A 0.997 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G3 HGNC ENSG00000075151 244 0 0 177 86 32.6996 CENPF 0 genome.wustl.edu 37 1 214819864 214819864 + Missense_Mutation SNP G G T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 1 214819864 214819864 G T SNP CENPF ENST00000366955 human ensembl 74_37 +1 known missense c.6951 p.Q2317H 0.569 pfam_Centromere_CenpF_leu-rich_rpt pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 125 0 0 38 69 64.486 USH2A 0 genome.wustl.edu 37 1 216595483 216595483 + Missense_Mutation SNP A A C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 1 216595483 216595483 A C SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.196 p.F66V 0.967 NULL 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 81 0 0 58 24 29.2683 EPRS 0 genome.wustl.edu 37 1 220156722 220156722 + Missense_Mutation SNP T T A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 1 220156722 220156722 T A SNP EPRS ENST00000366923 human ensembl 74_37 -1 known missense c.3109 p.M1037L 1.000 tigrfam_Pro-tRNA-ligase_IIa_arc-type pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_arc/euk - no_errors EPRS HGNC ENSG00000136628 64 0 0 20 50 71.4286 LYST 0 genome.wustl.edu 37 1 235894451 235894451 + Missense_Mutation SNP T T C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 1 235894451 235894451 T C SNP LYST ENST00000389793 human ensembl 74_37 -1 known missense c.8828 p.Y2943C 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 148 0 0 99 60 37.7358 CEP170 0 genome.wustl.edu 37 1 243349125 243349125 + Missense_Mutation SNP T T C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 1 243349125 243349125 T C SNP CEP170 ENST00000366542 human ensembl 74_37 -1 known missense c.1522 p.N508D 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170 HGNC ENSG00000143702 325 0 0 221 117 34.6154 OR2M7 0 genome.wustl.edu 37 1 248487439 248487439 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 1 248487439 248487439 C T SNP OR2M7 ENST00000317965 human ensembl 74_37 -1 known missense c.432 p.M144I 0.002 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M7 HGNC ENSG00000177186 557 0 0 309 161 34.2553 FHL3 0 genome.wustl.edu 37 1 38465047 38465047 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 1 38465047 38465047 G A SNP FHL3 ENST00000373016 human ensembl 74_37 -1 known missense c.38 p.S13F 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FHL3 HGNC ENSG00000183386 60 0 0 15 39 72.2222 ROR1 0 genome.wustl.edu 37 1 64608163 64608163 + Missense_Mutation SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 1 64608163 64608163 A G SNP ROR1 ENST00000371079 human ensembl 74_37 +1 known missense c.1004 p.Q335R 1.000 pirsf_Tyr_kinase_rcpt_ROR,pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors ROR1 HGNC ENSG00000185483 102 0 0 69 44 38.9381 ZBTB48 0 genome.wustl.edu 37 1 6646027 6646027 + Silent SNP T T C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 1 6646027 6646027 T C SNP ZBTB48 ENST00000377674 human ensembl 74_37 +1 known silent c.981 p.C327 0.777 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB48 HGNC ENSG00000204859 111 0 0 97 32 24.8062 DIRAS3 0 genome.wustl.edu 37 1 68512316 68512316 + Missense_Mutation SNP A A T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 1 68512316 68512316 A T SNP DIRAS3 ENST00000370981 human ensembl 74_37 -1 known missense c.665 p.L222Q 1.000 superfamily_P-loop_NTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors DIRAS3 HGNC ENSG00000162595 230 0 0 158 74 31.8966 SYDE2 0 genome.wustl.edu 37 1 85630437 85630437 + Missense_Mutation SNP T T A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 1 85630437 85630437 T A SNP SYDE2 ENST00000341460 human ensembl 74_37 -1 known missense c.2857 p.T953S 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE2 HGNC ENSG00000097096 11 0 0 2 2 50 COL24A1 0 genome.wustl.edu 37 1 86252065 86252065 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 1 86252065 86252065 G A SNP COL24A1 ENST00000370571 human ensembl 74_37 -1 known missense c.4031 p.P1344L 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 184 0 0 125 45 26.4706 LRRC8C 0 genome.wustl.edu 37 1 90179007 90179007 + Missense_Mutation SNP G G T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 1 90179007 90179007 G T SNP LRRC8C ENST00000370454 human ensembl 74_37 +1 known missense c.878 p.C293F 1.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8C HGNC ENSG00000171488 308 0 0 105 206 66.2379 WDR96 0 genome.wustl.edu 37 10 105923947 105923947 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 10 105923947 105923947 T G SNP WDR96 ENST00000357060 human ensembl 74_37 -1 known missense c.3151 p.I1051L 1.000 NULL superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu - no_errors WDR96 HGNC ENSG00000197748 78 0 0 49 32 39.5062 WDR96 0 genome.wustl.edu 37 10 105927437 105927437 + Missense_Mutation SNP T T C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 10 105927437 105927437 T C SNP WDR96 ENST00000357060 human ensembl 74_37 -1 known missense c.2750 p.E917G 0.994 NULL superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu - no_errors WDR96 HGNC ENSG00000197748 108 0 0 76 48 38.7097 SFXN4 0 genome.wustl.edu 37 10 120917394 120917394 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 10 120917394 120917394 T G SNP SFXN4 ENST00000355697 human ensembl 74_37 -1 known missense c.460 p.N154H 0.956 pfam_Mtc pfam_Mtc - no_errors SFXN4 HGNC ENSG00000183605 152 0 0 106 53 33.3333 SEC23IP 0 genome.wustl.edu 37 10 121677497 121677497 + Missense_Mutation SNP T T A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 10 121677497 121677497 T A SNP SEC23IP ENST00000369075 human ensembl 74_37 +1 known missense c.1694 p.L565H 1.000 NULL pfam_DDHD,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD - no_errors SEC23IP HGNC ENSG00000107651 214 0 0 123 66 34.9206 GPR123 0 genome.wustl.edu 37 10 134942949 134942949 + Silent SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 10 134942949 134942949 G A SNP GPR123 ENST00000607359 human ensembl 74_37 +1 putative silent c.3774 p.L1258 0.001 NULL pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like - no_errors GPR123 HGNC ENSG00000197177 34 0 0 25 8 24.2424 SUV39H2 0 genome.wustl.edu 37 10 14941679 14941679 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 10 14941679 14941679 C T SNP SUV39H2 ENST00000354919 human ensembl 74_37 +1 known missense c.991 p.H331Y 1.000 pfam_SET_dom,smart_SET_dom,pirsf_Histone_H3-K9_MeTrfase,pfscan_SET_dom pfam_SET_dom,pfam_Pre-SET_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,smart_Post-SET_dom,pirsf_Histone_H3-K9_MeTrfase,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom,pfscan_Chromo_domain/shadow - no_errors SUV39H2 HGNC ENSG00000152455 203 0 0 101 55 35.2564 PLXDC2 0 genome.wustl.edu 37 10 20466336 20466336 + Silent SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 10 20466336 20466336 A G SNP PLXDC2 ENST00000377252 human ensembl 74_37 +1 known silent c.1059 p.Q353 1.000 pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold - no_errors PLXDC2 HGNC ENSG00000120594 128 0 0 78 50 39.0625 ARMC3 0 genome.wustl.edu 37 10 23250949 23250949 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 10 23250949 23250949 G A SNP ARMC3 ENST00000298032 human ensembl 74_37 +1 known missense c.674 p.R225Q 0.026 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC3 HGNC ENSG00000165309 92 0 0 61 35 36.4583 NRP1 0 genome.wustl.edu 37 10 33619745 33619745 + Missense_Mutation SNP A A T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 10 33619745 33619745 A T SNP NRP1 ENST00000265371 human ensembl 74_37 -1 known missense c.139 p.S47T 0.916 pirsf_Neuropilin,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP1 HGNC ENSG00000099250 145 0 0 79 44 35.7724 ALOX5 0 genome.wustl.edu 37 10 45878028 45878028 + Missense_Mutation SNP T T C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 10 45878028 45878028 T C SNP ALOX5 ENST00000374391 human ensembl 74_37 +1 known missense c.248 p.L83P 1.000 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C,pfscan_PLAT/LH2_dom - no_errors ALOX5 HGNC ENSG00000012779 70 0 0 45 15 25 DKK1 0 genome.wustl.edu 37 10 54076318 54076318 + Missense_Mutation SNP A A C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 10 54076318 54076318 A C SNP DKK1 ENST00000373970 human ensembl 74_37 +1 known missense c.552 p.Q184H 0.998 NULL pfam_Dickkopf_N - no_errors DKK1 HGNC ENSG00000107984 271 0 0 171 70 29.0456 PCDH15 0 genome.wustl.edu 37 10 55973714 55973714 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 10 55973714 55973714 T G SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.1080 p.K360N 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 131 0 0 90 27 23.0769 REEP3 0 genome.wustl.edu 37 10 65359005 65359005 + Missense_Mutation SNP A A T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 10 65359005 65359005 A T SNP REEP3 ENST00000373758 human ensembl 74_37 +1 known missense c.379 p.N127Y 0.998 NULL pfam_TB2_DP1_HVA22 - no_errors REEP3 HGNC ENSG00000165476 65 0 0 49 24 32.8767 WAPAL 0 genome.wustl.edu 37 10 88277753 88277753 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 10 88277753 88277753 G A SNP WAPAL ENST00000298767 human ensembl 74_37 -1 known missense c.74 p.S25F 1.000 NULL pfam_WAPL_prot,superfamily_ARM-type_fold - no_errors WAPAL HGNC ENSG00000062650 146 0 0 94 61 39.3548 ANKRD1 0 genome.wustl.edu 37 10 92678659 92678659 + Missense_Mutation SNP A A T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 10 92678659 92678659 A T SNP ANKRD1 ENST00000371697 human ensembl 74_37 -1 known missense c.416 p.F139Y 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD1 HGNC ENSG00000148677 185 0 0 97 77 44.2529 HECTD2 0 genome.wustl.edu 37 10 93221110 93221110 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 10 93221110 93221110 T G SNP HECTD2 ENST00000446394 human ensembl 74_37 +1 known missense c.507 p.F169L 1.000 NULL pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT - no_errors HECTD2 HGNC ENSG00000165338 207 0 0 133 79 37.2642 ZNF518A 0 genome.wustl.edu 37 10 97918544 97918544 + RNA SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 10 97918544 97918544 G A SNP ZNF518A ENST00000316045 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors ZNF518A HGNC ENSG00000177853 111 0 0 66 37 35.9223 DYNC2H1 0 genome.wustl.edu 37 11 103104860 103104860 + Missense_Mutation SNP G G T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 11 103104860 103104860 G T SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.9538 p.D3180Y 1.000 NULL 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 10 0 0 6 4 40 ESAM 0 genome.wustl.edu 37 11 124626210 124626210 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 11 124626210 124626210 C T SNP ESAM ENST00000278927 human ensembl 74_37 -1 known missense c.500 p.G167E 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors ESAM HGNC ENSG00000149564 31 0 0 11 15 57.6923 USH1C 0 genome.wustl.edu 37 11 17546043 17546043 + Silent SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 11 17546043 17546043 G A SNP USH1C ENST00000005226 human ensembl 74_37 -1 known silent c.714 p.I238 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors USH1C HGNC ENSG00000006611 8 0 0 9 3 25 MRGPRX3 0 genome.wustl.edu 37 11 18158908 18158908 + Silent SNP C C A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 11 18158908 18158908 C A SNP MRGPRX3 ENST00000396275 human ensembl 74_37 +1 known silent c.159 p.G53 0.989 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX3 HGNC ENSG00000179826 211 0 0 148 61 29.1866 NAV2 0 genome.wustl.edu 37 11 20077454 20077454 + Silent SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 11 20077454 20077454 G A SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known silent c.4851 p.K1617 1.000 NULL pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 107 0 0 70 15 17.6471 TH 0 genome.wustl.edu 37 11 2186587 2186587 + Silent SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 11 2186587 2186587 C T SNP TH ENST00000381178 human ensembl 74_37 -1 known silent c.1302 p.L434 1.000 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Tyr_3_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_Tyrosine_hydroxylase_CS,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Tyr_3_mOase - no_errors TH HGNC ENSG00000180176 147 0 0 98 38 27.9412 SLC17A6 0 genome.wustl.edu 37 11 22399195 22399195 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 11 22399195 22399195 G A SNP SLC17A6 ENST00000263160 human ensembl 74_37 +1 known missense c.1658 p.G553D 1.000 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A6 HGNC ENSG00000091664 84 0 0 51 30 37.037 KCNA4 0 genome.wustl.edu 37 11 30032683 30032683 + Missense_Mutation SNP A A T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 11 30032683 30032683 A T SNP KCNA4 ENST00000328224 human ensembl 74_37 -1 known missense c.1543 p.F515I 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA4 HGNC ENSG00000182255 99 0 0 72 30 29.4118 PTPRJ 0 genome.wustl.edu 37 11 48145248 48145248 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 11 48145248 48145248 G A SNP PTPRJ ENST00000418331 human ensembl 74_37 +1 known missense c.700 p.A234T 0.096 superfamily_Fibronectin_type3,smart_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 96 0 0 71 37 34.2593 OR4C3 0 genome.wustl.edu 37 11 48346744 48346744 + Silent SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 11 48346744 48346744 G A SNP OR4C3 ENST00000319856 human ensembl 74_37 +1 known silent c.252 p.V84 1.000 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 OR4C3 HGNC ENSG00000176547 255 0 0 222 35 13.6187 OR4C12 0 genome.wustl.edu 37 11 50003318 50003318 + Silent SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 11 50003318 50003318 A G SNP OR4C12 ENST00000335238 human ensembl 74_37 -1 known silent c.720 p.S240 0.924 pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR4C12 HGNC ENSG00000221954 101 0 0 58 35 37.6344 UBQLN3 0 genome.wustl.edu 37 11 5529962 5529962 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 11 5529962 5529962 T G SNP UBQLN3 ENST00000311659 human ensembl 74_37 -1 known missense c.827 p.N276T 0.999 NULL pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN3 HGNC ENSG00000175520 204 1 0.487805 109 60 35.503 OR4S2 0 genome.wustl.edu 37 11 55418466 55418466 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 11 55418466 55418466 T G SNP OR4S2 ENST00000312422 human ensembl 74_37 +1 known missense c.87 p.F29L 0.317 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4S2 HGNC ENSG00000174982 305 1 0.326797 174 96 35.5556 OR8H3 0 genome.wustl.edu 37 11 55890633 55890633 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 11 55890633 55890633 C T SNP OR8H3 ENST00000313472 human ensembl 74_37 +1 known missense c.785 p.P262L 0.779 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H3 HGNC ENSG00000181761 203 0 0 135 52 27.8075 OR8H1 0 genome.wustl.edu 37 11 56058388 56058388 + Silent SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 11 56058388 56058388 G A SNP OR8H1 ENST00000313022 human ensembl 74_37 -1 known silent c.151 p.L51 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H1 HGNC ENSG00000181693 513 1 0.194553 342 160 31.8725 OR5M9 0 genome.wustl.edu 37 11 56230020 56230020 + Missense_Mutation SNP C C A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 11 56230020 56230020 C A SNP OR5M9 ENST00000279791 human ensembl 74_37 -1 known missense c.858 p.M286I 0.984 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 OR5M9 HGNC ENSG00000150269 210 0 0 134 58 30.2083 OR5M1 0 genome.wustl.edu 37 11 56380316 56380316 + Missense_Mutation SNP A A C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 11 56380316 56380316 A C SNP OR5M1 ENST00000526538 human ensembl 74_37 -1 known missense c.663 p.I221M 0.024 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M1 HGNC ENSG00000255012 132 0 0 74 48 39.3443 OR52E6 0 genome.wustl.edu 37 11 5862247 5862247 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 11 5862247 5862247 C T SNP OR52E6 ENST00000379946 human ensembl 74_37 -1 known missense c.893 p.G298E 0.170 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52E6 HGNC ENSG00000205409 155 0 0 96 46 32.3944 FAM111B 0 genome.wustl.edu 37 11 58893717 58893717 + Missense_Mutation SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 11 58893717 58893717 A G SNP FAM111B ENST00000343597 human ensembl 74_37 +1 known missense c.2147 p.E716G 0.029 superfamily_Trypsin-like_Pept_dom superfamily_Trypsin-like_Pept_dom - no_errors FAM111B HGNC ENSG00000189057 161 0 0 92 41 30.8271 MS4A12 0 genome.wustl.edu 37 11 60274594 60274594 + Silent SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 11 60274594 60274594 A G SNP MS4A12 ENST00000016913 human ensembl 74_37 +1 known silent c.801 p.K267 0.000 NULL pfam_CD20-like - no_errors MS4A12 HGNC ENSG00000071203 134 0 0 68 46 40.3509 CDC42BPG 0 genome.wustl.edu 37 11 64606691 64606691 + Silent SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 11 64606691 64606691 C T SNP CDC42BPG ENST00000342711 human ensembl 74_37 -1 known silent c.690 p.V230 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_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPG HGNC ENSG00000171219 112 0 0 78 41 34.4538 OR2AT4 0 genome.wustl.edu 37 11 74800405 74800405 + Silent SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 11 74800405 74800405 G A SNP OR2AT4 ENST00000305159 human ensembl 74_37 -1 known silent c.354 p.F118 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt - no_errors OR2AT4 HGNC ENSG00000171561 136 0 0 83 52 38.5185 C11orf30 0 genome.wustl.edu 37 11 76248947 76248947 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 11 76248947 76248947 C T SNP C11orf30 ENST00000334736 human ensembl 74_37 +1 known missense c.2468 p.S823L 1.000 NULL pfam_ENT_N,pfscan_ENT_N - no_errors C11orf30 HGNC ENSG00000158636 127 0 0 103 38 26.9504 DLG2 0 genome.wustl.edu 37 11 83770425 83770425 + Silent SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 11 83770425 83770425 C T SNP DLG2 ENST00000376104 human ensembl 74_37 -1 known silent c.852 p.L284 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG2 HGNC ENSG00000150672 148 0 0 114 56 32.9412 ST5 0 genome.wustl.edu 37 11 8715660 8715660 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 11 8715660 8715660 G A SNP ST5 ENST00000313726 human ensembl 74_37 -1 known missense c.3397 p.L1133F 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors ST5 HGNC ENSG00000166444 104 0 0 89 5 5.31915 GRM5 0 genome.wustl.edu 37 11 88301037 88301037 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 11 88301037 88301037 C T SNP GRM5 ENST00000305447 human ensembl 74_37 -1 known missense c.1814 p.R605H 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C 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,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC ENSG00000168959 82 0 0 58 21 26.5823 GRM5 0 genome.wustl.edu 37 11 88338027 88338027 + Missense_Mutation SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 11 88338027 88338027 A G SNP GRM5 ENST00000305447 human ensembl 74_37 -1 known missense c.1253 p.L418P 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I 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,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC ENSG00000168959 123 0 0 96 49 33.7931 DENND5A 0 genome.wustl.edu 37 11 9182384 9182384 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 11 9182384 9182384 C T SNP DENND5A ENST00000328194 human ensembl 74_37 -1 known missense c.2312 p.G771D 1.000 NULL pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_PLAT/LH2_dom,pfscan_Run - no_errors DENND5A HGNC ENSG00000184014 157 0 0 85 46 35.1145 FAT3 0 genome.wustl.edu 37 11 92623932 92623932 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 11 92623932 92623932 G A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.13423 p.A4475T 1.000 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 21 0 0 18 15 45.4545 MYBPC1 0 genome.wustl.edu 37 12 102038445 102038445 + Missense_Mutation SNP T T C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 12 102038445 102038445 T C SNP MYBPC1 ENST00000361466 human ensembl 74_37 +1 known missense c.836 p.F279S 1.000 NULL 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 MYBPC1 HGNC ENSG00000196091 99 0 0 65 33 33.6735 ASCL1 0 genome.wustl.edu 37 12 103352558 103352558 + Missense_Mutation SNP C C G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 12 103352558 103352558 C G SNP ASCL1 ENST00000266744 human ensembl 74_37 +1 known missense c.536 p.A179G 1.000 superfamily_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors ASCL1 HGNC ENSG00000139352 78 0 0 35 10 22.2222 KIAA1033 0 genome.wustl.edu 37 12 105538520 105538520 + Missense_Mutation SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 12 105538520 105538520 A G SNP KIAA1033 ENST00000332180 human ensembl 74_37 +1 known missense c.2204 p.K735R 1.000 NULL NULL - no_errors KIAA1033 HGNC ENSG00000136051 134 0 0 105 47 30.9211 LOH12CR1 0 genome.wustl.edu 37 12 12514147 12514147 + Silent SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 12 12514147 12514147 T G SNP LOH12CR1 ENST00000314565 human ensembl 74_37 +1 known silent c.66 p.P22 0.980 NULL pfam_Tumour_suppressor_LOH1CR12 - no_errors LOH12CR1 HGNC ENSG00000165714 205 0 0 110 76 40.8602 TMEM132D 0 genome.wustl.edu 37 12 129558617 129558617 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 12 129558617 129558617 G A SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known missense c.3103 p.P1035S 0.862 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 197 0 0 125 42 25.1497 PIWIL1 0 genome.wustl.edu 37 12 130845758 130845758 + Missense_Mutation SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 12 130845758 130845758 A G SNP PIWIL1 ENST00000245255 human ensembl 74_37 +1 known missense c.1699 p.K567E 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL1 HGNC ENSG00000125207 78 0 0 55 22 28.5714 GRIN2B 0 genome.wustl.edu 37 12 13716421 13716421 + Silent SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 12 13716421 13716421 G A SNP GRIN2B ENST00000609686 human ensembl 74_37 -1 known silent c.3751 p.L1251 1.000 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC ENSG00000273079 99 0 0 64 32 33.3333 GRIN2B 0 genome.wustl.edu 37 12 13768468 13768468 + Missense_Mutation SNP C C A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 12 13768468 13768468 C A SNP GRIN2B ENST00000609686 human ensembl 74_37 -1 known missense c.1459 p.G487W 1.000 pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC ENSG00000273079 327 0 0 204 90 30.6122 LRRK2 0 genome.wustl.edu 37 12 40687445 40687445 + Nonsense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 12 40687445 40687445 C T SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known nonsense c.2788 p.Q930* 0.993 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 134 0 0 60 32 34.7826 NELL2 0 genome.wustl.edu 37 12 44915892 44915892 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 12 44915892 44915892 C T SNP NELL2 ENST00000437801 human ensembl 74_37 -1 known missense c.2216 p.C739Y 1.000 smart_VWF_C,pfscan_VWF_C pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL2 HGNC ENSG00000184613 116 0 0 63 39 38.2353 KCNA1 0 genome.wustl.edu 37 12 5020811 5020811 + Silent SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 12 5020811 5020811 C T SNP KCNA1 ENST00000382545 human ensembl 74_37 +1 known silent c.267 p.F89 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3 - no_errors KCNA1 HGNC ENSG00000111262 66 0 0 50 36 41.8605 KRT6A 0 genome.wustl.edu 37 12 52885418 52885418 + Missense_Mutation SNP C C G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 12 52885418 52885418 C G SNP KRT6A ENST00000330722 human ensembl 74_37 -1 known missense c.643 p.E215Q 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6A HGNC ENSG00000205420 197 0 0 115 49 29.878 OR6C74 0 genome.wustl.edu 37 12 55641464 55641464 + Silent SNP C C A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 12 55641464 55641464 C A SNP OR6C74 ENST00000343870 human ensembl 74_37 +1 known silent c.393 p.T131 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C74 HGNC ENSG00000197706 261 0 0 178 84 32.0611 GLS2 0 genome.wustl.edu 37 12 56867316 56867316 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 12 56867316 56867316 C T SNP GLS2 ENST00000311966 human ensembl 74_37 -1 known missense c.1287 p.M429I 1.000 pfam_Glutaminase,superfamily_Beta-lactam/transpept-like,tigrfam_Glutaminase pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase - no_errors GLS2 HGNC ENSG00000135423 134 0 0 97 44 31.2057 LYZ 0 genome.wustl.edu 37 12 69747030 69747030 + Silent SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 12 69747030 69747030 G A SNP LYZ ENST00000549690 human ensembl 74_37 +1 putative silent c.399 p.L133 0.001 NULL pfam_Glyco_hydro_22,pfam_TGlycosylase-like_SLT,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22_lys,prints_Glyco_hydro_22 - no_errors LYZ HGNC ENSG00000090382 137 0 0 93 61 39.6104 GLIPR1L2 0 genome.wustl.edu 37 12 75816696 75816696 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 12 75816696 75816696 G A SNP GLIPR1L2 ENST00000435775 human ensembl 74_37 +1 known missense c.493 p.E165K 0.001 smart_Allrgn_V5/Tpx1 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1 - no_errors GLIPR1L2 HGNC ENSG00000180481 270 0 0 180 88 32.8358 WNK1 0 genome.wustl.edu 37 12 992681 992681 + Nonsense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 12 992681 992681 C T SNP WNK1 ENST00000530271 human ensembl 74_37 +1 known nonsense c.5104 p.Q1702* 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK1 HGNC ENSG00000060237 178 0 0 98 47 32.4138 ARHGEF7 0 genome.wustl.edu 37 13 111933004 111933004 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 13 111933004 111933004 C T SNP ARHGEF7 ENST00000375741 human ensembl 74_37 +1 known missense c.1768 p.H590Y 0.995 NULL pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain - no_errors ARHGEF7 HGNC ENSG00000102606 158 0 0 156 65 29.4118 RASA3 0 genome.wustl.edu 37 13 114786883 114786883 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 13 114786883 114786883 G A SNP RASA3 ENST00000334062 human ensembl 74_37 -1 known missense c.782 p.A261V 1.000 superfamily_C2_dom,smart_C2_dom pfam_RasGAP,pfam_C2_dom,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA3 HGNC ENSG00000185989 72 0 0 69 23 25 PAN3 0 genome.wustl.edu 37 13 28862253 28862253 + Silent SNP T T A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 13 28862253 28862253 T A SNP PAN3 ENST00000380958 human ensembl 74_37 +1 known silent c.2517 p.L839 1.000 NULL superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_dom - no_errors PAN3 HGNC ENSG00000152520 133 0 0 129 43 25 POSTN 0 genome.wustl.edu 37 13 38154095 38154095 + Silent SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 13 38154095 38154095 C T SNP POSTN ENST00000379747 human ensembl 74_37 -1 known silent c.1563 p.L521 1.000 pfam_FAS1_domain,superfamily_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors POSTN HGNC ENSG00000133110 165 0 0 185 43 18.8596 COG3 0 genome.wustl.edu 37 13 46056546 46056546 + Missense_Mutation SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 13 46056546 46056546 A G SNP COG3 ENST00000349995 human ensembl 74_37 +1 known missense c.655 p.S219G 1.000 pfam_COG_su3,superfamily_Cullin_repeat-like_dom pfam_COG_su3,superfamily_Cullin_repeat-like_dom - no_errors COG3 HGNC ENSG00000136152 138 0 0 153 54 26.087 SPERT 0 genome.wustl.edu 37 13 46287419 46287419 + Nonsense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 13 46287419 46287419 C T SNP SPERT ENST00000310521 human ensembl 74_37 +1 known nonsense c.259 p.Q87* 1.000 NULL NULL - no_errors SPERT HGNC ENSG00000174015 51 0 0 76 17 18.2796 INTS6 0 genome.wustl.edu 37 13 51939913 51939913 + Missense_Mutation SNP T T C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 13 51939913 51939913 T C SNP INTS6 ENST00000311234 human ensembl 74_37 -1 known missense c.2639 p.Q880R 1.000 NULL pfam_VWF_A,pfscan_VWF_A - no_errors INTS6 HGNC ENSG00000102786 58 0 0 55 18 24.6575 PCDH17 0 genome.wustl.edu 37 13 58207479 58207479 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 13 58207479 58207479 G A SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.799 p.A267T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 104 0 0 124 23 15.6463 PCDH20 0 genome.wustl.edu 37 13 61985441 61985441 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 13 61985441 61985441 G A SNP PCDH20 ENST00000409186 human ensembl 74_37 -1 known missense c.2791 p.P931S 1.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 141 0 0 136 37 21.3873 KLHL1 0 genome.wustl.edu 37 13 70370969 70370969 + Nonsense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 13 70370969 70370969 G A SNP KLHL1 ENST00000377844 human ensembl 74_37 -1 known nonsense c.1540 p.R514* 1.000 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1 pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL1 HGNC ENSG00000150361 226 0 0 152 159 51.1254 MZT1 0 genome.wustl.edu 37 13 73293091 73293091 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 13 73293091 73293091 T G SNP MZT1 ENST00000377818 human ensembl 74_37 -1 known missense c.224 p.K75T 1.000 NULL pfam_DUF3743 - no_errors MZT1 HGNC ENSG00000204899 296 0 0 319 86 21.2346 MYCBP2 0 genome.wustl.edu 37 13 77745688 77745688 + Silent SNP A A T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 13 77745688 77745688 A T SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known silent c.5733 p.S1911 1.000 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 81 0 0 88 29 24.7863 DZIP1 0 genome.wustl.edu 37 13 96285518 96285518 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 13 96285518 96285518 G A SNP DZIP1 ENST00000347108 human ensembl 74_37 -1 known missense c.655 p.R219C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors DZIP1 HGNC ENSG00000134874 55 0 0 61 18 22.7848 GPR183 0 genome.wustl.edu 37 13 99948218 99948218 + Missense_Mutation SNP T T A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 13 99948218 99948218 T A SNP GPR183 ENST00000376414 human ensembl 74_37 -1 known missense c.182 p.K61I 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR183 HGNC ENSG00000169508 188 0 0 168 59 25.9912 ACIN1 0 genome.wustl.edu 37 14 23559303 23559303 + Silent SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 14 23559303 23559303 T G SNP ACIN1 ENST00000262710 human ensembl 74_37 -1 known silent c.498 p.S166 1.000 NULL pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom - no_errors ACIN1 HGNC ENSG00000100813 58 0 0 47 20 29.8507 NUBPL 0 genome.wustl.edu 37 14 32315787 32315787 + Silent SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 14 32315787 32315787 T G SNP NUBPL ENST00000281081 human ensembl 74_37 +1 known silent c.804 p.L268 1.000 superfamily_P-loop_NTPase pfam_ATPase-like_ParA/MinD,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1,superfamily_P-loop_NTPase - no_errors NUBPL HGNC ENSG00000151413 48 0 0 36 25 40.9836 KLHL28 0 genome.wustl.edu 37 14 45414826 45414826 + Silent SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 14 45414826 45414826 C T SNP KLHL28 ENST00000396128 human ensembl 74_37 -1 known silent c.306 p.Q102 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL28 HGNC ENSG00000179454 140 0 0 87 52 37.4101 GPR137C 0 genome.wustl.edu 37 14 53020089 53020089 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 14 53020089 53020089 G A SNP GPR137C ENST00000321662 human ensembl 74_37 +1 known missense c.224 p.R75H 0.990 NULL NULL - no_errors GPR137C HGNC ENSG00000180998 9 0 0 3 7 70 DDHD1 0 genome.wustl.edu 37 14 53525293 53525293 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 14 53525293 53525293 G A SNP DDHD1 ENST00000323669 human ensembl 74_37 -1 known missense c.1894 p.R632C 1.000 pfam_DDHD,pfscan_DDHD pfam_DDHD,pfscan_DDHD - no_errors DDHD1 HGNC ENSG00000100523 139 0 0 99 38 27.7372 C14orf37 0 genome.wustl.edu 37 14 58598379 58598379 + Missense_Mutation SNP A A C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 14 58598379 58598379 A C SNP C14orf37 ENST00000267485 human ensembl 74_37 -1 known missense c.1682 p.V561G 0.788 NULL NULL - no_errors C14orf37 HGNC ENSG00000139971 130 0 0 88 39 30.7087 DHRS7 0 genome.wustl.edu 37 14 60622819 60622819 + Missense_Mutation SNP A A C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 14 60622819 60622819 A C SNP DHRS7 ENST00000216500 human ensembl 74_37 -1 known missense c.185 p.I62S 0.989 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS7 HGNC ENSG00000100612 121 0 0 96 36 27.2727 SIX6 0 genome.wustl.edu 37 14 60976600 60976600 + Missense_Mutation SNP G G T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 14 60976600 60976600 G T SNP SIX6 ENST00000327720 human ensembl 74_37 +1 known missense c.484 p.A162S 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX6 HGNC ENSG00000184302 25 0 0 15 10 40 SYNE2 0 genome.wustl.edu 37 14 64375920 64375920 + Silent SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 14 64375920 64375920 C T SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known silent c.54 p.I18 0.950 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 154 0 0 123 45 26.7857 PLEKHG3 0 genome.wustl.edu 37 14 65208090 65208090 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 14 65208090 65208090 G A SNP PLEKHG3 ENST00000394691 human ensembl 74_37 +1 known missense c.1855 p.V619M 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG3 HGNC ENSG00000126822 34 0 0 26 14 35 MAP3K9 0 genome.wustl.edu 37 14 71215717 71215717 + Silent SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 14 71215717 71215717 G A SNP MAP3K9 ENST00000555993 human ensembl 74_37 -1 known silent c.1155 p.C385 1.000 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K9 HGNC ENSG00000006432 166 0 0 118 36 23.3766 TMEM63C 0 genome.wustl.edu 37 14 77705999 77705999 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 14 77705999 77705999 G A SNP TMEM63C ENST00000298351 human ensembl 74_37 +1 known missense c.860 p.G287E 0.998 NULL pfam_DUF221 - no_errors TMEM63C HGNC ENSG00000165548 26 0 0 15 5 25 SEL1L 0 genome.wustl.edu 37 14 81972546 81972546 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 14 81972546 81972546 C T SNP SEL1L ENST00000336735 human ensembl 74_37 -1 known missense c.380 p.C127Y 1.000 pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd pfam_Sel1-like,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_Sel1-like,pfscan_FN_type2_col-bd - no_errors SEL1L HGNC ENSG00000071537 101 0 0 106 6 5.35714 ATG2B 0 genome.wustl.edu 37 14 96798979 96798979 + Silent SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 14 96798979 96798979 G A SNP ATG2B ENST00000359933 human ensembl 74_37 -1 known silent c.1221 p.F407 1.000 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 127 0 0 92 47 33.8129 ASB7 0 genome.wustl.edu 37 15 101170069 101170069 + Silent SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 15 101170069 101170069 C T SNP ASB7 ENST00000332783 human ensembl 74_37 +1 known silent c.639 p.D213 0.520 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB7 HGNC ENSG00000183475 103 0 0 67 43 39.0909 NIPA1 0 genome.wustl.edu 37 15 23052723 23052723 + Missense_Mutation SNP T T A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 15 23052723 23052723 T A SNP NIPA1 ENST00000337435 human ensembl 74_37 -1 known missense c.350 p.K117M 1.000 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA - no_errors NIPA1 HGNC ENSG00000170113 214 0 0 209 12 5.42986 SNRPN 0 genome.wustl.edu 37 15 25222974 25222974 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 15 25222974 25222974 C T SNP SNRPN ENST00000444203 human ensembl 74_37 +1 known missense c.482 p.A161V 0.998 pirsf_snRNP-assoc_SmB/SmN pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN - no_errors SNRPN HGNC ENSG00000128739 28 0 0 16 14 46.6667 FMN1 0 genome.wustl.edu 37 15 33359769 33359769 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 15 33359769 33359769 C T SNP FMN1 ENST00000334528 human ensembl 74_37 -1 known missense c.317 p.G106E 0.273 NULL pfam_FH2_Formin,smart_FH2_Formin,prints_Formin_Cappuccino_subfam - no_errors FMN1 HGNC ENSG00000248905 164 0 0 90 45 33.3333 RYR3 0 genome.wustl.edu 37 15 34080453 34080453 + Silent SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 15 34080453 34080453 C T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known silent c.9624 p.P3208 0.041 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 155 0 0 101 50 33.1126 MGA 0 genome.wustl.edu 37 15 42035185 42035185 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 15 42035185 42035185 C T SNP MGA ENST00000219905 human ensembl 74_37 +1 known missense c.5027 p.P1676L 1.000 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 75 0 0 62 31 33.3333 SECISBP2L 0 genome.wustl.edu 37 15 49303937 49303937 + Missense_Mutation SNP A A T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 15 49303937 49303937 A T SNP SECISBP2L ENST00000559471 human ensembl 74_37 -1 known missense c.1855 p.S619T 1.000 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors SECISBP2L HGNC ENSG00000138593 135 0 0 92 34 26.9841 MNS1 0 genome.wustl.edu 37 15 56736697 56736697 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 15 56736697 56736697 T G SNP MNS1 ENST00000260453 human ensembl 74_37 -1 known missense c.631 p.K211Q 0.909 NULL NULL - no_errors MNS1 HGNC ENSG00000138587 199 0 0 130 51 28.1768 LCTL 0 genome.wustl.edu 37 15 66845441 66845441 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 15 66845441 66845441 G A SNP LCTL ENST00000341509 human ensembl 74_37 -1 known missense c.1078 p.P360S 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCTL HGNC ENSG00000188501 231 0 0 160 67 29.5154 MYO9A 0 genome.wustl.edu 37 15 72196349 72196349 + Missense_Mutation SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 15 72196349 72196349 A G SNP MYO9A ENST00000424560 human ensembl 74_37 -1 known missense c.2798 p.L933P 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC ENSG00000066933 50 0 0 31 15 32.6087 KIAA1199 0 genome.wustl.edu 37 15 81241151 81241151 + Silent SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 15 81241151 81241151 C T SNP KIAA1199 ENST00000220244 human ensembl 74_37 +1 known silent c.3972 p.F1324 0.989 NULL pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors KIAA1199 HGNC ENSG00000103888 160 0 0 113 70 38.2514 ZSCAN2 0 genome.wustl.edu 37 15 85164607 85164607 + Missense_Mutation SNP A A C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 15 85164607 85164607 A C SNP ZSCAN2 ENST00000448803 human ensembl 74_37 +1 known missense c.1181 p.D394A 0.485 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN2 HGNC ENSG00000176371 146 0 0 85 51 37.5 IQGAP1 0 genome.wustl.edu 37 15 90997755 90997755 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 15 90997755 90997755 T G SNP IQGAP1 ENST00000268182 human ensembl 74_37 +1 known missense c.1583 p.V528G 1.000 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_WW_dom,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP - no_errors IQGAP1 HGNC ENSG00000140575 202 0 0 119 67 36.0215 CRAMP1L 0 genome.wustl.edu 37 16 1719107 1719107 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 16 1719107 1719107 C T SNP CRAMP1L ENST00000293925 human ensembl 74_37 +1 known missense c.3440 p.T1147I 1.000 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors CRAMP1L HGNC ENSG00000007545 17 0 0 4 3 42.8571 SMG1 0 genome.wustl.edu 37 16 18844380 18844380 + Missense_Mutation SNP C C G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 16 18844380 18844380 C G SNP SMG1 ENST00000389467 human ensembl 74_37 -1 known missense c.8674 p.E2892Q 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 293 0 0 190 101 34.7079 MSRB1 0 genome.wustl.edu 37 16 1990794 1990794 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 16 1990794 1990794 T G SNP MSRB1 ENST00000399753 human ensembl 74_37 -1 putative missense c.668 p.E223A 1.000 NULL pfam_Met_Sox_Rdtase_MsrB,superfamily_Mss4-like - no_errors MSRB1 HGNC ENSG00000198736 64 0 0 45 20 30.7692 ACSM2A 0 genome.wustl.edu 37 16 20480970 20480970 + Silent SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 16 20480970 20480970 T G SNP ACSM2A ENST00000219054 human ensembl 74_37 +1 known silent c.525 p.P175 0.088 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM2A HGNC ENSG00000183747 413 0 0 267 91 25.419 ACSM2A 0 genome.wustl.edu 37 16 20497948 20497948 + Missense_Mutation SNP C C A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 16 20497948 20497948 C A SNP ACSM2A ENST00000219054 human ensembl 74_37 +1 known missense c.1682 p.A561D 0.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSM2A HGNC ENSG00000183747 304 0 0 206 113 35.4232 DNAH3 0 genome.wustl.edu 37 16 21078701 21078701 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 16 21078701 21078701 G A SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.3421 p.R1141W 0.993 pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 145 0 0 107 40 27.2109 LOC653786 0 genome.wustl.edu 37 16 22588014 22588014 + RNA SNP C C A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 16 22588014 22588014 C A SNP LOC653786 ENST00000550753 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-368J21.3 Clone_based_vega_gene ENSG00000257838 118 1 0.840336 125 20 13.7931 EARS2 0 genome.wustl.edu 37 16 23546498 23546498 + Silent SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 16 23546498 23546498 G A SNP EARS2 ENST00000449606 human ensembl 74_37 -1 known silent c.669 p.D223 0.105 pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,tigrfam_Glu-tRNA-ligase_bac/mito pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,superfamily_aa-tRNA-synth_I_codon-bd,prints_Glu/Gln-tRNA-synth,tigrfam_Glu-tRNA-ligase_bac/mito - no_errors EARS2 HGNC ENSG00000103356 42 0 0 42 3 6.66667 RBBP6 0 genome.wustl.edu 37 16 24560271 24560271 + Missense_Mutation SNP G G T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 16 24560271 24560271 G T SNP RBBP6 ENST00000319715 human ensembl 74_37 +1 known missense c.272 p.R91L 1.000 NULL pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC - no_errors RBBP6 HGNC ENSG00000122257 31 0 0 37 2 5.12821 CES5A 0 genome.wustl.edu 37 16 55900005 55900005 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 16 55900005 55900005 C T SNP CES5A ENST00000521992 human ensembl 74_37 -1 known missense c.662 p.G221E 1.000 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES5A HGNC ENSG00000159398 40 0 0 43 16 27.1186 HYDIN 0 genome.wustl.edu 37 16 70867875 70867875 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 16 70867875 70867875 C T SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.13594 p.E4532K 1.000 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 18 0 0 16 7 30.4348 HYDIN 0 genome.wustl.edu 37 16 71012905 71012905 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 16 71012905 71012905 T G SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.4550 p.K1517T 0.966 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 124 0 0 100 6 5.66038 FOXF1 0 genome.wustl.edu 37 16 86544609 86544609 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 16 86544609 86544609 G A SNP FOXF1 ENST00000262426 human ensembl 74_37 +1 known missense c.434 p.R145Q 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXF1 HGNC ENSG00000103241 130 0 0 32 35 52.2388 PMP22 0 genome.wustl.edu 37 17 15134172 15134172 + Silent SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 17 15134172 15134172 C T SNP PMP22 ENST00000494511 human ensembl 74_37 -1 novel silent c.366 p.Q122 0.001 NULL NULL - no_errors PMP22 HGNC ENSG00000109099 106 0 0 26 27 50.9434 NCOR1 0 genome.wustl.edu 37 17 16068450 16068450 + Missense_Mutation SNP T T C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 17 16068450 16068450 T C SNP NCOR1 ENST00000268712 human ensembl 74_37 -1 known missense c.461 p.E154G 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 288 0 0 180 23 11.33 TRPV2 0 genome.wustl.edu 37 17 16326203 16326203 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 17 16326203 16326203 G A SNP TRPV2 ENST00000338560 human ensembl 74_37 +1 known missense c.625 p.G209S 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel - no_errors TRPV2 HGNC ENSG00000187688 11 0 0 2 3 60 SERPINF2 0 genome.wustl.edu 37 17 1650311 1650311 + Splice_Site SNP A A C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 17 1650311 1650311 A C SNP SERPINF2 ENST00000324015 human ensembl 74_37 +1 known splice_site c.368-2 e5-2 1.000 - - - no_errors SERPINF2 HGNC ENSG00000167711 26 0 0 6 5 45.4545 POLDIP2 0 genome.wustl.edu 37 17 26679998 26679998 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 17 26679998 26679998 C T SNP POLDIP2 ENST00000540200 human ensembl 74_37 -1 known missense c.559 p.D187N 1.000 superfamily_Hemimethylated_DNA-bd_dom pfam_ApaG_domain,pfam_Hemimethylated_DNA-bd_dom,superfamily_ApaG_domain,superfamily_Hemimethylated_DNA-bd_dom,pfscan_ApaG_domain - no_errors POLDIP2 HGNC ENSG00000004142 66 0 0 36 26 41.9355 EFCAB5 0 genome.wustl.edu 37 17 28405470 28405470 + Missense_Mutation SNP G G C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 17 28405470 28405470 G C SNP EFCAB5 ENST00000394835 human ensembl 74_37 +1 known missense c.2975 p.S992T 1.000 NULL pfscan_EF_hand_dom - no_errors EFCAB5 HGNC ENSG00000176927 84 0 0 105 37 26.0563 SLC35G3 0 genome.wustl.edu 37 17 33520866 33520866 + Missense_Mutation SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 17 33520866 33520866 A G SNP SLC35G3 ENST00000297307 human ensembl 74_37 -1 known missense c.461 p.L154P 0.770 pfam_DMT pfam_DMT - no_errors SLC35G3 HGNC ENSG00000164729 258 0 0 249 73 22.6708 HDAC5 0 genome.wustl.edu 37 17 42158248 42158248 + Silent SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 17 42158248 42158248 G A SNP HDAC5 ENST00000225983 human ensembl 74_37 -1 known silent c.2613 p.D871 0.998 pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC5 HGNC ENSG00000108840 79 0 0 71 16 18.3908 SLC35B1 0 genome.wustl.edu 37 17 47784418 47784418 + Silent SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 17 47784418 47784418 C T SNP SLC35B1 ENST00000415270 human ensembl 74_37 -1 known silent c.228 p.K76 0.988 pfam_UAA pfam_UAA,pfam_DMT,pfam_Tpt_PEP_trans_dom - no_errors SLC35B1 HGNC ENSG00000121073 206 1 0.483092 124 111 47.234 MINK1 0 genome.wustl.edu 37 17 4799503 4799503 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 17 4799503 4799503 C T SNP MINK1 ENST00000355280 human ensembl 74_37 +1 known missense c.3481 p.P1161S 1.000 pfam_Citron,smart_Citron pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors MINK1 HGNC ENSG00000141503 52 0 0 18 26 59.0909 SGCA 0 genome.wustl.edu 37 17 48243432 48243432 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 17 48243432 48243432 C T SNP SGCA ENST00000262018 human ensembl 74_37 +1 known missense c.31 p.L11F 0.976 pfam_Sarcoglycan_2 pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg - no_errors SGCA HGNC ENSG00000108823 242 0 0 223 88 28.2958 C17orf47 0 genome.wustl.edu 37 17 56620386 56620386 + Nonsense_Mutation SNP C C A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 17 56620386 56620386 C A SNP C17orf47 ENST00000321691 human ensembl 74_37 -1 known nonsense c.1162 p.G388* 0.027 NULL NULL - no_errors C17orf47 HGNC ENSG00000181013 118 0 0 95 88 48.0874 MARCH10 0 genome.wustl.edu 37 17 60814271 60814271 + Missense_Mutation SNP C C A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 17 60814271 60814271 C A SNP MARCH10 ENST00000311269 human ensembl 74_37 -1 known missense c.958 p.G320W 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH10 HGNC ENSG00000173838 528 0 0 372 370 49.8652 TP53 0 genome.wustl.edu 37 17 7578176 7578176 + Splice_Site SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 17 7578176 7578176 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known splice_site c.672+1 e5+1 1.000 - - - no_errors TP53 HGNC ENSG00000141510 40 0 0 14 11 44 RNF213 0 genome.wustl.edu 37 17 78346774 78346774 + Splice_Site SNP G G C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 17 78346774 78346774 G C SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known splice_site c.12752-1 e48-1 0.975 - - - no_errors RNF213 HGNC ENSG00000173821 27 0 0 30 10 25 ROCK1 0 genome.wustl.edu 37 18 18564356 18564356 + Silent SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 18 18564356 18564356 C T SNP ROCK1 ENST00000399799 human ensembl 74_37 -1 known silent c.2445 p.L815 1.000 pirsf_Rho-assoc_coiled-coil_kin pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd_dom,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK1 HGNC ENSG00000067900 140 0 0 78 38 32.7586 LIPG 0 genome.wustl.edu 37 18 47109931 47109931 + Missense_Mutation SNP A A T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 18 47109931 47109931 A T SNP LIPG ENST00000261292 human ensembl 74_37 +1 known missense c.1163 p.E388V 1.000 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase_hep pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase,prints_Lipo_Lipase,prints_Lipase_hep - no_errors LIPG HGNC ENSG00000101670 105 0 0 35 44 55.6962 ATP8B1 0 genome.wustl.edu 37 18 55319362 55319362 + Missense_Mutation SNP A A C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 18 55319362 55319362 A C SNP ATP8B1 ENST00000283684 human ensembl 74_37 -1 known missense c.3304 p.S1102A 1.000 NULL 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 ATP8B1 HGNC ENSG00000081923 86 0 0 16 33 67.3469 SERPINB3 0 genome.wustl.edu 37 18 61326649 61326649 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 18 61326649 61326649 G A SNP SERPINB3 ENST00000283752 human ensembl 74_37 -1 known missense c.335 p.T112M 0.001 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB3 HGNC ENSG00000057149 228 0 0 74 59 44.3609 CDH7 0 genome.wustl.edu 37 18 63548089 63548089 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 18 63548089 63548089 G A SNP CDH7 ENST00000323011 human ensembl 74_37 +1 known missense c.2317 p.A773T 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 140 1 0.70922 34 48 58.5366 CCDC102B 0 genome.wustl.edu 37 18 66504478 66504478 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 18 66504478 66504478 C T SNP CCDC102B ENST00000319445 human ensembl 74_37 +1 known missense c.478 p.L160F 0.005 NULL NULL - no_errors CCDC102B HGNC ENSG00000150636 241 0 0 64 70 52.2388 RTTN 0 genome.wustl.edu 37 18 67871349 67871349 + Missense_Mutation SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 18 67871349 67871349 A G SNP RTTN ENST00000255674 human ensembl 74_37 -1 known missense c.370 p.S124P 0.569 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 148 1 0.671141 45 57 55.8824 LAMA1 0 genome.wustl.edu 37 18 7026061 7026061 + Missense_Mutation SNP C C A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 18 7026061 7026061 C A SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.2319 p.L773F 0.914 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 27 0 0 21 15 41.6667 NFATC1 0 genome.wustl.edu 37 18 77227603 77227603 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 18 77227603 77227603 G A SNP NFATC1 ENST00000591814 human ensembl 74_37 +1 known missense c.2113 p.V705I 0.000 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC1 HGNC ENSG00000131196 61 0 0 21 20 48.7805 ADNP2 0 genome.wustl.edu 37 18 77893739 77893739 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 18 77893739 77893739 C T SNP ADNP2 ENST00000262198 human ensembl 74_37 +1 known missense c.443 p.S148F 0.003 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP2 HGNC ENSG00000101544 108 0 0 60 15 20 PTPRM 0 genome.wustl.edu 37 18 8076538 8076538 + Silent SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 18 8076538 8076538 A G SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known silent c.1527 p.T509 0.929 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,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 PTPRM HGNC ENSG00000173482 117 0 0 90 37 29.1339 DNMT1 0 genome.wustl.edu 37 19 10250741 10250741 + Silent SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 19 10250741 10250741 G A SNP DNMT1 ENST00000359526 human ensembl 74_37 -1 known silent c.3787 p.L1263 0.998 pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC - no_errors DNMT1 HGNC ENSG00000130816 81 0 0 61 22 26.506 ICAM5 0 genome.wustl.edu 37 19 10404989 10404989 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 19 10404989 10404989 C T SNP ICAM5 ENST00000221980 human ensembl 74_37 +1 known missense c.1985 p.A662V 1.000 smart_Ig_sub pfam_Ig_I-set,pfam_ICAM_N,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM5 HGNC ENSG00000105376 207 0 0 167 72 30.1255 ZNF439 0 genome.wustl.edu 37 19 11977395 11977395 + Missense_Mutation SNP C C A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 19 11977395 11977395 C A SNP ZNF439 ENST00000304030 human ensembl 74_37 +1 known missense c.219 p.N73K 0.021 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 ZNF439 HGNC ENSG00000171291 122 0 0 59 28 32.1839 CCDC130 0 genome.wustl.edu 37 19 13869851 13869851 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 19 13869851 13869851 G A SNP CCDC130 ENST00000589096 human ensembl 74_37 +1 putative missense c.130 p.G44R 0.000 NULL pfam_CWC16 - no_errors CCDC130 HGNC ENSG00000104957 27 0 0 17 7 29.1667 NWD1 0 genome.wustl.edu 37 19 16918624 16918624 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 19 16918624 16918624 G A SNP NWD1 ENST00000379808 human ensembl 74_37 +1 known missense c.3964 p.V1322I 0.020 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 123 0 0 84 45 34.8837 NWD1 0 genome.wustl.edu 37 19 16926140 16926140 + Nonstop_Mutation SNP A A T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 19 16926140 16926140 A T SNP NWD1 ENST00000339803 human ensembl 74_37 +1 known nonstop c.4290 p.*1430Y 0.005 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 29 0 0 21 15 41.6667 CPAMD8 0 genome.wustl.edu 37 19 17036025 17036025 + Silent SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 19 17036025 17036025 G A SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known silent c.3669 p.T1223 0.973 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 160 0 0 94 63 40.1274 FKBP8 0 genome.wustl.edu 37 19 18652561 18652561 + Nonsense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 19 18652561 18652561 G A SNP FKBP8 ENST00000453489 human ensembl 74_37 -1 known nonsense c.307 p.R103* 0.951 NULL pfam_PPIase_FKBP_dom,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP8 HGNC ENSG00000105701 28 0 0 15 14 48.2759 SLC25A42 0 genome.wustl.edu 37 19 19217133 19217133 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 19 19217133 19217133 G A SNP SLC25A42 ENST00000318596 human ensembl 74_37 +1 known missense c.436 p.A146T 0.966 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC - no_errors SLC25A42 HGNC ENSG00000181035 67 0 0 45 26 36.6197 ZNF90 0 genome.wustl.edu 37 19 20229448 20229448 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 19 20229448 20229448 T G SNP ZNF90 ENST00000418063 human ensembl 74_37 +1 known missense c.1085 p.I362S 0.998 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 ZNF90 HGNC ENSG00000213988 37 0 0 31 11 26.1905 ZNF99 0 genome.wustl.edu 37 19 22939044 22939044 + Missense_Mutation SNP G G T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 19 22939044 22939044 G T SNP ZNF99 ENST00000397104 human ensembl 74_37 -1 known missense c.3077 p.T1026N 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 ZNF99 HGNC ENSG00000213973 70 0 0 30 40 57.1429 DYRK1B 0 genome.wustl.edu 37 19 40319150 40319150 + Silent SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 19 40319150 40319150 G A SNP DYRK1B ENST00000323039 human ensembl 74_37 -1 known silent c.594 p.Y198 0.976 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 DYRK1B HGNC ENSG00000105204 15 0 0 17 6 26.087 SPTBN4 0 genome.wustl.edu 37 19 41066375 41066375 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 19 41066375 41066375 C T SNP SPTBN4 ENST00000392023 human ensembl 74_37 +1 known missense c.2009 p.P670L 0.000 NULL pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin - no_errors SPTBN4 HGNC ENSG00000160460 36 0 0 23 11 32.3529 MEIS3 0 genome.wustl.edu 37 19 47918036 47918036 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 19 47918036 47918036 C T SNP MEIS3 ENST00000559524 human ensembl 74_37 -1 known missense c.535 p.D179N 1.000 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors MEIS3 HGNC ENSG00000105419 18 0 0 17 6 26.087 ZNF175 0 genome.wustl.edu 37 19 52091509 52091509 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 19 52091509 52091509 C T SNP ZNF175 ENST00000262259 human ensembl 74_37 +1 known missense c.1925 p.P642L 0.604 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 ZNF175 HGNC ENSG00000105497 203 0 0 112 68 37.7778 ZNF528 0 genome.wustl.edu 37 19 52918758 52918758 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 19 52918758 52918758 G A SNP ZNF528 ENST00000360465 human ensembl 74_37 +1 known missense c.653 p.C218Y 0.329 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 ZNF528 HGNC ENSG00000167555 150 0 0 91 53 36.8056 ZNF702P 0 genome.wustl.edu 37 19 53472634 53472634 + RNA SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 19 53472634 53472634 G A SNP ZNF702P ENST00000270443 human ensembl 74_37 -1 known rna NULL NULL 0.011 - - - no_errors ZNF702P HGNC ENSG00000242779 34 0 0 29 10 25.641 NLRP4 0 genome.wustl.edu 37 19 56369641 56369641 + Silent SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 19 56369641 56369641 A G SNP NLRP4 ENST00000301295 human ensembl 74_37 +1 known silent c.882 p.S294 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP4 HGNC ENSG00000160505 122 1 0.813008 91 48 34.5324 NLRP5 0 genome.wustl.edu 37 19 56538970 56538970 + Silent SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 19 56538970 56538970 G A SNP NLRP5 ENST00000390649 human ensembl 74_37 +1 known silent c.1371 p.A457 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP5 HGNC ENSG00000171487 46 0 0 35 17 32.6923 NLRP5 0 genome.wustl.edu 37 19 56561858 56561858 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 19 56561858 56561858 C T SNP NLRP5 ENST00000390649 human ensembl 74_37 +1 known missense c.3032 p.T1011M 0.963 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP5 HGNC ENSG00000171487 74 0 0 40 28 41.1765 USP29 0 genome.wustl.edu 37 19 57642751 57642751 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 19 57642751 57642751 C T SNP USP29 ENST00000254181 human ensembl 74_37 +1 known missense c.2708 p.T903I 0.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP29 HGNC ENSG00000131864 122 0 0 82 39 32.2314 GTF2F1 0 genome.wustl.edu 37 19 6387561 6387561 + Silent SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 19 6387561 6387561 G A SNP GTF2F1 ENST00000394456 human ensembl 74_37 -1 known silent c.336 p.G112 0.897 pfam_TFIIF-alpha,superfamily_TFIIF_interaction pfam_TFIIF-alpha,superfamily_TFIIF_interaction - no_errors GTF2F1 HGNC ENSG00000125651 50 0 0 37 18 32.7273 MUC16 0 genome.wustl.edu 37 19 9082954 9082954 + Missense_Mutation SNP T T A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 19 9082954 9082954 T A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.8861 p.Q2954L 0.033 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 201 0 0 113 61 35.0575 TBC1D8 0 genome.wustl.edu 37 2 101638823 101638823 + Missense_Mutation SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 2 101638823 101638823 A G SNP TBC1D8 ENST00000409318 human ensembl 74_37 -1 known missense c.2681 p.I894T 0.991 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D8 HGNC ENSG00000204634 47 0 0 29 14 32.5581 MAP4K4 0 genome.wustl.edu 37 2 102486168 102486168 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 2 102486168 102486168 G A SNP MAP4K4 ENST00000324219 human ensembl 74_37 +1 known missense c.2548 p.E850K 1.000 NULL pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors MAP4K4 HGNC ENSG00000071054 13 0 0 8 11 57.8947 DDX18 0 genome.wustl.edu 37 2 118575280 118575280 + Missense_Mutation SNP A A C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 2 118575280 118575280 A C SNP DDX18 ENST00000263239 human ensembl 74_37 +1 known missense c.346 p.K116Q 0.981 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX18 HGNC ENSG00000088205 269 0 0 146 76 34.2342 TMEM37 0 genome.wustl.edu 37 2 120194860 120194860 + Silent SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 2 120194860 120194860 C T SNP TMEM37 ENST00000306406 human ensembl 74_37 +1 known silent c.417 p.S139 0.000 NULL NULL - no_errors TMEM37 HGNC ENSG00000171227 447 0 0 246 127 34.0483 MYO7B 0 genome.wustl.edu 37 2 128392752 128392752 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 2 128392752 128392752 T G SNP MYO7B ENST00000389524 human ensembl 74_37 +1 known missense c.5696 p.I1899R 0.971 superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 26 0 0 18 5 21.7391 FMNL2 0 genome.wustl.edu 37 2 153475530 153475530 + Silent SNP A A C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 2 153475530 153475530 A C SNP FMNL2 ENST00000288670 human ensembl 74_37 +1 known silent c.1485 p.P495 0.226 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour - no_errors FMNL2 HGNC ENSG00000157827 100 0 0 69 38 35.514 UPP2 0 genome.wustl.edu 37 2 158991450 158991450 + RNA SNP A A C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 2 158991450 158991450 A C SNP UPP2 ENST00000460456 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors UPP2 HGNC ENSG00000007001 68 0 0 55 27 32.9268 LOC100129029 0 genome.wustl.edu 37 2 159518074 159518074 + RNA SNP G G C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 2 159518074 159518074 G C SNP LOC100129029 ENST00000342892 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC005042.4 Clone_based_vega_gene ENSG00000204380 44 0 0 29 12 29.2683 TANC1 0 genome.wustl.edu 37 2 160086957 160086957 + Missense_Mutation SNP A A C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 2 160086957 160086957 A C SNP TANC1 ENST00000263635 human ensembl 74_37 +1 known missense c.5020 p.K1674Q 0.999 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 226 0 0 190 10 5 LRP2 0 genome.wustl.edu 37 2 170081876 170081876 + Silent SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 2 170081876 170081876 A G SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known silent c.5482 p.L1828 0.989 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 133 0 0 79 54 40.6015 PPIG 0 genome.wustl.edu 37 2 170488410 170488410 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 2 170488410 170488410 G A SNP PPIG ENST00000260970 human ensembl 74_37 +1 known missense c.896 p.R299K 0.998 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIG HGNC ENSG00000138398 63 0 0 59 24 28.9157 CYBRD1 0 genome.wustl.edu 37 2 172398188 172398188 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 2 172398188 172398188 T G SNP CYBRD1 ENST00000321348 human ensembl 74_37 +1 known missense c.287 p.L96R 0.993 pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM - no_errors CYBRD1 HGNC ENSG00000071967 220 0 0 121 79 39.5 OSBPL6 0 genome.wustl.edu 37 2 179247154 179247154 + Missense_Mutation SNP A A C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 2 179247154 179247154 A C SNP OSBPL6 ENST00000315022 human ensembl 74_37 +1 known missense c.1553 p.D518A 1.000 NULL pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL6 HGNC ENSG00000079156 106 0 0 67 35 34.3137 TTN 0 genome.wustl.edu 37 2 179665321 179665321 + Silent SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 2 179665321 179665321 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.384 p.T128 0.994 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,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 199 0 0 144 62 30.0971 FAM171B 0 genome.wustl.edu 37 2 187625939 187625939 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 2 187625939 187625939 T G SNP FAM171B ENST00000304698 human ensembl 74_37 +1 known missense c.1112 p.F371C 1.000 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171B HGNC ENSG00000144369 157 0 0 111 52 31.9018 ZSWIM2 0 genome.wustl.edu 37 2 187698698 187698698 + Missense_Mutation SNP A A C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 2 187698698 187698698 A C SNP ZSWIM2 ENST00000295131 human ensembl 74_37 -1 known missense c.803 p.L268R 0.000 NULL pfam_Znf_SWIM,pfam_Znf_ZZ,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Znf_ZZ - no_errors ZSWIM2 HGNC ENSG00000163012 92 0 0 54 17 23.9437 ASNSD1 0 genome.wustl.edu 37 2 190532199 190532199 + Silent SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 2 190532199 190532199 C T SNP ASNSD1 ENST00000260952 human ensembl 74_37 +1 known silent c.1341 p.H447 1.000 pfam_Asn_synthase pfam_Asn_synthase - no_errors ASNSD1 HGNC ENSG00000138381 276 0 0 188 91 32.6165 CCDC108 0 genome.wustl.edu 37 2 219890820 219890820 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 2 219890820 219890820 G A SNP CCDC108 ENST00000341552 human ensembl 74_37 -1 known missense c.2273 p.T758M 0.521 NULL superfamily_PapD-like,pfscan_MSP_dom - no_errors CCDC108 HGNC ENSG00000181378 89 0 0 60 28 31.8182 DNPEP 0 genome.wustl.edu 37 2 220246268 220246268 + Missense_Mutation SNP T T C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 2 220246268 220246268 T C SNP DNPEP ENST00000273075 human ensembl 74_37 -1 known missense c.1136 p.K379R 1.000 pfam_Peptidase_M18,pfam_Peptidase_M42 pfam_Peptidase_M18,pfam_Peptidase_M42,prints_Peptidase_M18 - no_errors DNPEP HGNC ENSG00000123992 230 0 0 166 75 31.1203 SCG2 0 genome.wustl.edu 37 2 224463773 224463773 + Silent SNP T T C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 2 224463773 224463773 T C SNP SCG2 ENST00000305409 human ensembl 74_37 -1 known silent c.228 p.P76 1.000 pfam_Granin pfam_Granin - no_errors SCG2 HGNC ENSG00000171951 236 0 0 138 69 33.3333 DOCK10 0 genome.wustl.edu 37 2 225639814 225639814 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 2 225639814 225639814 C T SNP DOCK10 ENST00000258390 human ensembl 74_37 -1 known missense c.5821 p.D1941N 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 63 0 0 37 15 28.8462 CCL20 0 genome.wustl.edu 37 2 228680227 228680227 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 2 228680227 228680227 T G SNP CCL20 ENST00000358813 human ensembl 74_37 +1 known missense c.134 p.F45C 0.000 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL20 HGNC ENSG00000115009 223 0 0 135 85 38.6364 SPHKAP 0 genome.wustl.edu 37 2 228884214 228884214 + Silent SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 2 228884214 228884214 A G SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known silent c.1356 p.V452 0.998 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 190 0 0 115 55 32.3529 SP140 0 genome.wustl.edu 37 2 231109759 231109759 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 2 231109759 231109759 G A SNP SP140 ENST00000392045 human ensembl 74_37 +1 known missense c.628 p.A210T 0.000 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain - no_errors SP140 HGNC ENSG00000079263 79 0 0 73 30 29.1262 SP100 0 genome.wustl.edu 37 2 231327182 231327182 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 2 231327182 231327182 G A SNP SP100 ENST00000340126 human ensembl 74_37 +1 known missense c.1006 p.D336N 0.007 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP100 HGNC ENSG00000067066 95 0 0 47 33 41.25 AQP12A 0 genome.wustl.edu 37 2 241631397 241631397 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 2 241631397 241631397 C T SNP AQP12A ENST00000429564 human ensembl 74_37 +1 known missense c.67 p.R23W 0.730 pirsf_Aquaporin_11/12,prints_Aquaporin_12 pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12,prints_MIP - no_errors AQP12A HGNC ENSG00000184945 81 0 0 49 32 39.5062 PASK 0 genome.wustl.edu 37 2 242065717 242065717 + Silent SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 2 242065717 242065717 G A SNP PASK ENST00000358649 human ensembl 74_37 -1 known silent c.2613 p.V871 0.992 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAS_fold,superfamily_Kinase-like_dom,superfamily_PAS,smart_PAS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAS,pfscan_Prot_kinase_dom,tigrfam_PAS - no_errors PASK HGNC ENSG00000115687 159 0 0 94 46 32.8571 TRIM54 0 genome.wustl.edu 37 2 27522174 27522174 + Missense_Mutation SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 2 27522174 27522174 A G SNP TRIM54 ENST00000296098 human ensembl 74_37 +1 known missense c.403 p.N135D 1.000 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_Chorismate_mutase_type_II,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM54 HGNC ENSG00000138100 73 0 0 50 25 33.3333 SPDYA 0 genome.wustl.edu 37 2 29039042 29039042 + Silent SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 2 29039042 29039042 C T SNP SPDYA ENST00000334056 human ensembl 74_37 +1 known silent c.162 p.N54 0.998 NULL pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYA HGNC ENSG00000163806 179 1 0.555556 137 83 37.7273 CYP1B1 0 genome.wustl.edu 37 2 38302315 38302315 + Missense_Mutation SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 2 38302315 38302315 A G SNP CYP1B1 ENST00000260630 human ensembl 74_37 -1 known missense c.217 p.S73P 0.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP1B1 HGNC ENSG00000138061 8 0 0 2 2 50 MDH1 0 genome.wustl.edu 37 2 63834000 63834000 + Missense_Mutation SNP A A C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 2 63834000 63834000 A C SNP MDH1 ENST00000539945 human ensembl 74_37 +1 known missense c.938 p.K313T 1.000 pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_NAD-dep_euk,tigrfam_Malate_DH_type2 pfam_Lactate/malate_DH_C,pfam_Lactate/malate_DH_N,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_NAD-dep_euk,tigrfam_Malate_DH_type2 - no_errors MDH1 HGNC ENSG00000014641 108 0 0 68 32 32 SPRED2 0 genome.wustl.edu 37 2 65541156 65541156 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 2 65541156 65541156 C T SNP SPRED2 ENST00000356388 human ensembl 74_37 -1 known missense c.736 p.D246N 1.000 NULL pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED2 HGNC ENSG00000198369 122 0 0 98 34 25.7576 DNAH6 0 genome.wustl.edu 37 2 84806741 84806741 + Missense_Mutation SNP G G C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 2 84806741 84806741 G C SNP DNAH6 ENST00000237449 human ensembl 74_37 +1 known missense c.2167 p.V723L 0.991 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 154 0 0 81 46 36.2205 ANKRD36BP2 0 genome.wustl.edu 37 2 89100675 89100675 + RNA SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 2 89100675 89100675 A G SNP ANKRD36BP2 ENST00000393515 human ensembl 74_37 +1 known rna NULL NULL 0.031 - - - no_errors ANKRD36BP2 HGNC ENSG00000230006 338 0 0 195 65 25 ASAP2 0 genome.wustl.edu 37 2 9508631 9508631 + Silent SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 2 9508631 9508631 C T SNP ASAP2 ENST00000281419 human ensembl 74_37 +1 known silent c.1539 p.P513 0.638 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP2 HGNC ENSG00000151693 79 0 0 56 19 25.3333 GPAT2 0 genome.wustl.edu 37 2 96690197 96690197 + Silent SNP G G T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 2 96690197 96690197 G T SNP GPAT2 ENST00000359548 human ensembl 74_37 -1 known silent c.1647 p.V549 0.979 NULL smart_Plipid/glycerol_acylTrfase - no_errors GPAT2 HGNC ENSG00000186281 70 0 0 58 23 28.3951 GZF1 0 genome.wustl.edu 37 20 23350829 23350829 + Silent SNP T T C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 20 23350829 23350829 T C SNP GZF1 ENST00000338121 human ensembl 74_37 +1 known silent c.1887 p.Y629 0.034 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors GZF1 HGNC ENSG00000125812 108 0 0 73 39 34.8214 NCOA6 0 genome.wustl.edu 37 20 33329501 33329501 + Missense_Mutation SNP A A T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 20 33329501 33329501 A T SNP NCOA6 ENST00000359003 human ensembl 74_37 -1 known missense c.4559 p.V1520D 0.617 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 135 0 0 98 49 33.3333 FAM83D 0 genome.wustl.edu 37 20 37581154 37581154 + Silent SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 20 37581154 37581154 C T SNP FAM83D ENST00000217429 human ensembl 74_37 +1 known silent c.1839 p.S613 0.565 NULL pfam_DUF1669 - no_errors FAM83D HGNC ENSG00000101447 310 0 0 192 88 31.4286 TOX2 0 genome.wustl.edu 37 20 42602048 42602048 + Missense_Mutation SNP C C G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 20 42602048 42602048 C G SNP TOX2 ENST00000341197 human ensembl 74_37 +1 known missense c.141 p.N47K 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX2 HGNC ENSG00000124191 88 0 0 62 14 18.4211 CDH22 0 genome.wustl.edu 37 20 44839198 44839198 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 20 44839198 44839198 C T SNP CDH22 ENST00000372262 human ensembl 74_37 -1 known missense c.1034 p.R345H 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH22 HGNC ENSG00000149654 41 0 0 36 8 18.1818 TPTE 0 genome.wustl.edu 37 21 10944678 10944678 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 21 10944678 10944678 T G SNP TPTE ENST00000361285 human ensembl 74_37 -1 known missense c.556 p.N186H 0.000 pfam_Ion_trans_dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 368 0 0 314 46 12.7778 GRIK1 0 genome.wustl.edu 37 21 31023457 31023457 + Missense_Mutation SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 21 31023457 31023457 A G SNP GRIK1 ENST00000535441 human ensembl 74_37 -1 known missense c.935 p.L312P 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK1 HGNC ENSG00000171189 131 0 0 43 46 51.6854 GART 0 genome.wustl.edu 37 21 34903839 34903839 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 21 34903839 34903839 C T SNP GART ENST00000381815 human ensembl 74_37 -1 known missense c.553 p.E185K 1.000 pfam_PRibGlycinamid_synth_ATP-grasp,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans - no_errors GART HGNC ENSG00000159131 281 0 0 85 86 50.2924 MORC3 0 genome.wustl.edu 37 21 37741808 37741808 + Missense_Mutation SNP A A C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 21 37741808 37741808 A C SNP MORC3 ENST00000400485 human ensembl 74_37 +1 known missense c.2142 p.K714N 1.000 NULL pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC3 HGNC ENSG00000159256 116 0 0 73 4 5.19481 AIRE 0 genome.wustl.edu 37 21 45713694 45713694 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 21 45713694 45713694 G A SNP AIRE ENST00000291582 human ensembl 74_37 +1 known missense c.1301 p.C434Y 0.791 superfamily_Znf_FYVE_PHD,smart_Znf_PHD pfam_Sp100,pfam_Znf_PHD-finger,pfam_SAND_dom,superfamily_Znf_FYVE_PHD,superfamily_SAND_dom-like,smart_SAND_dom,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_SAND_dom,prints_AIRE - no_errors AIRE HGNC ENSG00000160224 43 0 0 9 16 64 TRPM2 0 genome.wustl.edu 37 21 45833885 45833885 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 21 45833885 45833885 C T SNP TRPM2 ENST00000300482 human ensembl 74_37 +1 known missense c.3074 p.T1025M 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 302 1 0.330033 96 127 56.9507 CECR2 0 genome.wustl.edu 37 22 17978449 17978449 + Missense_Mutation SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 22 17978449 17978449 A G SNP CECR2 ENST00000400573 human ensembl 74_37 +1 novel missense c.347 p.D116G 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 98 0 0 109 30 21.5827 CABIN1 0 genome.wustl.edu 37 22 24472130 24472130 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 22 24472130 24472130 C T SNP CABIN1 ENST00000263119 human ensembl 74_37 +1 known missense c.2645 p.T882M 0.111 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 54 0 0 66 19 22.3529 RFPL2 0 genome.wustl.edu 37 22 32589023 32589023 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 22 32589023 32589023 C T SNP RFPL2 ENST00000400237 human ensembl 74_37 -1 known missense c.422 p.C141Y 0.000 pfam_RDM_domain_RFPL pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors RFPL2 HGNC ENSG00000128253 188 0 0 208 57 21.5094 RIBC2 0 genome.wustl.edu 37 22 45828195 45828195 + Nonsense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 22 45828195 45828195 C T SNP RIBC2 ENST00000538017 human ensembl 74_37 +1 known nonsense c.1087 p.Q363* 0.000 pfam_RIB43A pfam_RIB43A - no_errors RIBC2 HGNC ENSG00000128408 113 0 0 61 52 46.0177 TRMT10C 0 genome.wustl.edu 37 3 101284689 101284689 + Missense_Mutation SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 101284689 101284689 A G SNP TRMT10C ENST00000309922 human ensembl 74_37 +1 known missense c.1064 p.Q355R 1.000 pfam_tRNA_m1G_MeTrfase pfam_tRNA_m1G_MeTrfase - no_errors TRMT10C HGNC ENSG00000174173 90 0 0 120 26 17.8082 MYH15 0 genome.wustl.edu 37 3 108179190 108179190 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 108179190 108179190 C T SNP MYH15 ENST00000273353 human ensembl 74_37 -1 known missense c.1949 p.R650Q 0.954 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 50 0 0 32 41 56.1644 PHLDB2 0 genome.wustl.edu 37 3 111603306 111603306 + Missense_Mutation SNP T T A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 111603306 111603306 T A SNP PHLDB2 ENST00000393925 human ensembl 74_37 +1 known missense c.382 p.F128I 0.982 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB2 HGNC ENSG00000144824 490 0 0 621 149 19.3506 KIAA1407 0 genome.wustl.edu 37 3 113753930 113753930 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 113753930 113753930 T G SNP KIAA1407 ENST00000295878 human ensembl 74_37 -1 known missense c.660 p.K220N 1.000 NULL NULL - no_errors KIAA1407 HGNC ENSG00000163617 244 0 0 310 87 21.9144 POLQ 0 genome.wustl.edu 37 3 121228492 121228492 + Silent SNP T T C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 121228492 121228492 T C SNP POLQ ENST00000264233 human ensembl 74_37 -1 known silent c.1875 p.P625 0.903 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 169 0 0 209 57 21.4286 CASR 0 genome.wustl.edu 37 3 121981176 121981176 + Nonsense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 121981176 121981176 C T SNP CASR ENST00000498619 human ensembl 74_37 +1 known nonsense c.1294 p.Q432* 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC ENSG00000036828 173 0 0 257 51 16.5584 WDR5B 0 genome.wustl.edu 37 3 122133940 122133940 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 122133940 122133940 C T SNP WDR5B ENST00000330689 human ensembl 74_37 -1 known missense c.436 p.D146N 1.000 pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR5B HGNC ENSG00000196981 180 0 0 230 56 19.5804 PARP14 0 genome.wustl.edu 37 3 122437724 122437724 + Missense_Mutation SNP T T C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 122437724 122437724 T C SNP PARP14 ENST00000474629 human ensembl 74_37 +1 known missense c.4726 p.Y1576H 0.990 pfam_WWE-dom,pfscan_WWE-dom pfam_Macro_dom,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC ENSG00000173193 73 0 0 82 28 25.4545 KALRN 0 genome.wustl.edu 37 3 124132335 124132335 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 124132335 124132335 G A SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.2359 p.A787T 1.000 NULL pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 45 0 0 29 46 61.3333 ZNF148 0 genome.wustl.edu 37 3 124952156 124952156 + Missense_Mutation SNP T T C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 124952156 124952156 T C SNP ZNF148 ENST00000360647 human ensembl 74_37 -1 known missense c.1414 p.K472E 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF148 HGNC ENSG00000163848 215 0 0 313 78 19.9488 COL6A6 0 genome.wustl.edu 37 3 130340692 130340692 + Missense_Mutation SNP G G T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 130340692 130340692 G T SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.4843 p.G1615W 0.810 pfam_Collagen pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 106 0 0 163 28 14.6597 COL6A6 0 genome.wustl.edu 37 3 130380597 130380597 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 130380597 130380597 G A SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.5947 p.D1983N 0.996 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 71 0 0 106 20 15.873 PRR23C 0 genome.wustl.edu 37 3 138763216 138763216 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 138763216 138763216 C T SNP PRR23C ENST00000413199 human ensembl 74_37 -1 known missense c.247 p.A83T 0.002 pfam_UPF0572 pfam_UPF0572 - no_errors PRR23C HGNC ENSG00000233701 9 0 0 15 3 16.6667 PCOLCE2 0 genome.wustl.edu 37 3 142606588 142606588 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 142606588 142606588 C T SNP PCOLCE2 ENST00000295992 human ensembl 74_37 -1 known missense c.115 p.G39R 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Netrin_module_non-TIMP,superfamily_CUB_dom,superfamily_TIMP-like_OB-fold,smart_CUB_dom,smart_Netrin_module_non-TIMP,pfscan_CUB_dom,pfscan_Netrin_domain - no_errors PCOLCE2 HGNC ENSG00000163710 122 0 0 127 36 22.0859 SIAH2 0 genome.wustl.edu 37 3 150460290 150460290 + Missense_Mutation SNP A A C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 150460290 150460290 A C SNP SIAH2 ENST00000312960 human ensembl 74_37 -1 known missense c.613 p.F205V 1.000 pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like,pfscan_Znf_RING,pfscan_Znf_SIAH - no_errors SIAH2 HGNC ENSG00000181788 121 0 0 180 54 23.0769 ZFYVE20 0 genome.wustl.edu 37 3 15116106 15116106 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 15116106 15116106 T G SNP ZFYVE20 ENST00000253699 human ensembl 74_37 -1 known missense c.1538 p.E513A 1.000 NULL pfam_Rbsn,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors ZFYVE20 HGNC ENSG00000131381 147 0 0 82 47 36.4341 P2RY1 0 genome.wustl.edu 37 3 152554055 152554055 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 152554055 152554055 C T SNP P2RY1 ENST00000305097 human ensembl 74_37 +1 known missense c.484 p.R162W 0.201 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y1_rcpt,prints_GPCR_Rhodpsn - no_errors P2RY1 HGNC ENSG00000169860 108 0 0 167 38 18.5366 C3orf79 0 genome.wustl.edu 37 3 153203896 153203896 + Splice_Site SNP T T C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 153203896 153203896 T C SNP C3orf79 ENST00000446603 human ensembl 74_37 +1 known splice_site c.223+2 e2+2 0.001 - - - no_errors C3orf79 HGNC ENSG00000237787 16 0 0 13 5 27.7778 C3orf33 0 genome.wustl.edu 37 3 155481395 155481395 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 155481395 155481395 C T SNP C3orf33 ENST00000340171 human ensembl 74_37 -1 known missense c.796 p.E266K 0.086 NULL superfamily_Staphylococal_nuclease_OB-fold - no_errors C3orf33 HGNC ENSG00000174928 77 0 0 105 21 16.6667 B3GALNT1 0 genome.wustl.edu 37 3 160804463 160804463 + Missense_Mutation SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 160804463 160804463 A G SNP B3GALNT1 ENST00000320474 human ensembl 74_37 -1 known missense c.80 p.L27P 0.022 NULL pfam_Glyco_trans_31,pfam_Fringe-like - no_errors B3GALNT1 HGNC ENSG00000169255 71 0 0 107 36 25.1748 ZBBX 0 genome.wustl.edu 37 3 167068256 167068256 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 167068256 167068256 T G SNP ZBBX ENST00000307529 human ensembl 74_37 -1 known missense c.480 p.K160N 1.000 pfam_Znf_B-box pfam_Znf_B-box - no_errors ZBBX HGNC ENSG00000169064 289 0 0 411 118 22.3062 ZBBX 0 genome.wustl.edu 37 3 167086288 167086288 + Missense_Mutation SNP T T C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 167086288 167086288 T C SNP ZBBX ENST00000307529 human ensembl 74_37 -1 known missense c.143 p.E48G 0.724 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ENSG00000169064 174 0 0 247 45 15.411 GOLIM4 0 genome.wustl.edu 37 3 167747646 167747646 + Missense_Mutation SNP T T C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 167747646 167747646 T C SNP GOLIM4 ENST00000470487 human ensembl 74_37 -1 known missense c.1355 p.Q452R 0.998 NULL NULL - no_errors GOLIM4 HGNC ENSG00000173905 59 0 0 73 19 20.6522 TERC 0 genome.wustl.edu 37 3 169482810 169482810 + RNA SNP A A T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 169482810 169482810 A T SNP TERC ENST00000363312 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TERC HGNC ENSG00000270141 25 0 0 19 23 54.7619 ENSG00000270096 0 genome.wustl.edu 37 3 169513914 169513914 + RNA SNP A A C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 169513914 169513914 A C SNP ENSG00000270096 ENST00000602835 human ensembl 74_37 +1 known rna NULL NULL 0.018 - - - no_errors RP11-362K14.6 Clone_based_vega_gene ENSG00000270096 40 0 0 51 11 17.7419 TNIK 0 genome.wustl.edu 37 3 170784001 170784001 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 170784001 170784001 T G SNP TNIK ENST00000436636 human ensembl 74_37 -1 known missense c.3974 p.K1325T 1.000 pfam_Citron,smart_Citron pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors TNIK HGNC ENSG00000154310 146 0 0 228 55 19.4346 PIK3CA 0 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1624 p.E542K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 83 0 0 95 66 40.9938 ZNF639 0 genome.wustl.edu 37 3 179051248 179051248 + Missense_Mutation SNP C C A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 179051248 179051248 C A SNP ZNF639 ENST00000326361 human ensembl 74_37 +1 known missense c.496 p.Q166K 0.986 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF639 HGNC ENSG00000121864 106 1 0.934579 147 26 15.0289 TTC14 0 genome.wustl.edu 37 3 180328303 180328303 + Missense_Mutation SNP A A C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 180328303 180328303 A C SNP TTC14 ENST00000296015 human ensembl 74_37 +1 known missense c.2286 p.K762N 1.000 NULL pfam_TPR_1,superfamily_NA-bd_OB-fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors TTC14 HGNC ENSG00000163728 114 0 0 153 39 20.3125 CLCN2 0 genome.wustl.edu 37 3 184075422 184075422 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 184075422 184075422 G A SNP CLCN2 ENST00000265593 human ensembl 74_37 -1 known missense c.758 p.A253V 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl-channel-2 - no_errors CLCN2 HGNC ENSG00000114859 98 0 0 74 132 64.0777 EPHB3 0 genome.wustl.edu 37 3 184295588 184295588 + Missense_Mutation SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 184295588 184295588 A G SNP EPHB3 ENST00000330394 human ensembl 74_37 +1 known missense c.1622 p.E541G 1.000 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_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,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 EPHB3 HGNC ENSG00000182580 88 0 0 135 29 17.6829 AHSG 0 genome.wustl.edu 37 3 186338625 186338625 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 186338625 186338625 G A SNP AHSG ENST00000411641 human ensembl 74_37 +1 known missense c.1010 p.R337Q 0.000 NULL pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors AHSG HGNC ENSG00000145192 114 1 0.869565 184 51 21.7021 MUC4 0 genome.wustl.edu 37 3 195517394 195517394 + Missense_Mutation SNP A A C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 195517394 195517394 A C SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.1057 p.L353V 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 358 1 0.278552 466 110 19.0972 WDR53 0 genome.wustl.edu 37 3 196281389 196281389 + Missense_Mutation SNP A A C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 196281389 196281389 A C SNP WDR53 ENST00000332629 human ensembl 74_37 -1 known missense c.770 p.L257R 0.998 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR53 HGNC ENSG00000185798 255 0 0 319 72 18.4143 TRANK1 0 genome.wustl.edu 37 3 36888720 36888720 + Missense_Mutation SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 36888720 36888720 A G SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known missense c.4873 p.S1625P 0.000 superfamily_P-loop_NTPase pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 51 0 0 39 14 26.4151 TRANK1 0 genome.wustl.edu 37 3 36898084 36898084 + Silent SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 36898084 36898084 G A SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known silent c.2997 p.D999 0.384 superfamily_P-loop_NTPase pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 244 0 0 179 60 25.1046 KLHL40 0 genome.wustl.edu 37 3 42727322 42727322 + Missense_Mutation SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 42727322 42727322 A G SNP KLHL40 ENST00000287777 human ensembl 74_37 +1 known missense c.212 p.E71G 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL40 HGNC ENSG00000157119 50 0 0 23 15 39.4737 SNRK 0 genome.wustl.edu 37 3 43381977 43381977 + Silent SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 43381977 43381977 A G SNP SNRK ENST00000296088 human ensembl 74_37 +1 known silent c.930 p.R310 0.943 pfscan_UBA/transl_elong_EF1B_N_euk 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_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors SNRK HGNC ENSG00000163788 90 0 0 65 29 30.8511 PTPN23 0 genome.wustl.edu 37 3 47453892 47453892 + Missense_Mutation SNP A A T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 47453892 47453892 A T SNP PTPN23 ENST00000265562 human ensembl 74_37 +1 known missense c.4298 p.K1433M 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC ENSG00000076201 53 0 0 45 19 29.6875 DAG1 0 genome.wustl.edu 37 3 49570131 49570131 + Silent SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 49570131 49570131 A G SNP DAG1 ENST00000308775 human ensembl 74_37 +1 known silent c.2187 p.S729 0.002 pfam_DAG1 pfam_DAG1,superfamily_Alpha-dystroglycan_domain_2,superfamily_Cadherin-like,smart_Cadg - no_errors DAG1 HGNC ENSG00000173402 71 0 0 65 26 28.5714 GRM2 0 genome.wustl.edu 37 3 51752122 51752122 + Silent SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 51752122 51752122 G A SNP GRM2 ENST00000395052 human ensembl 74_37 +1 known silent c.2613 p.S871 0.923 NULL pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B - no_errors GRM2 HGNC ENSG00000164082 289 1 0.344828 162 94 36.7188 CHDH 0 genome.wustl.edu 37 3 53852074 53852074 + Silent SNP T T C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 53852074 53852074 T C SNP CHDH ENST00000315251 human ensembl 74_37 -1 known silent c.1515 p.K505 0.987 pfam_GMC_OxRtase_C,pirsf_GMC_OxRdtase pfam_GMC_OxRdtase_N,pfam_GMC_OxRtase_C,pirsf_GMC_OxRdtase - no_errors CHDH HGNC ENSG00000016391 172 1 0.578035 125 42 25.1497 ASB14 0 genome.wustl.edu 37 3 57312815 57312815 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 57312815 57312815 T G SNP ASB14 ENST00000389601 human ensembl 74_37 -1 known missense c.1021 p.N341H 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB14 HGNC ENSG00000239388 51 0 0 25 21 45.6522 SLMAP 0 genome.wustl.edu 37 3 57898412 57898412 + Missense_Mutation SNP A A C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 57898412 57898412 A C SNP SLMAP ENST00000428312 human ensembl 74_37 +1 known missense c.1953 p.E651D 1.000 NULL pfam_FHA_dom,pfam_PFD_beta-like,superfamily_SMAD_FHA_domain,superfamily_Prefoldin,smart_FHA_dom,pfscan_FHA_dom - no_errors SLMAP HGNC ENSG00000163681 73 0 0 48 35 42.1687 ACOX2 0 genome.wustl.edu 37 3 58512199 58512199 + Missense_Mutation SNP A A C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 58512199 58512199 A C SNP ACOX2 ENST00000302819 human ensembl 74_37 -1 known missense c.1340 p.V447G 0.993 superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase - no_errors ACOX2 HGNC ENSG00000168306 28 0 0 27 16 37.2093 ROBO2 0 genome.wustl.edu 37 3 77147286 77147286 + Silent SNP C C A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 77147286 77147286 C A SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known silent c.183 p.T61 0.992 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,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 ROBO2 HGNC ENSG00000185008 82 0 0 41 23 35.9375 CADM2 0 genome.wustl.edu 37 3 86114755 86114755 + Missense_Mutation SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 86114755 86114755 A G SNP CADM2 ENST00000405615 human ensembl 74_37 +1 known missense c.1070 p.D357G 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM2 HGNC ENSG00000175161 115 0 0 61 34 35.7895 PROS1 0 genome.wustl.edu 37 3 93624914 93624914 + Silent SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 93624914 93624914 A G SNP PROS1 ENST00000394236 human ensembl 74_37 -1 known silent c.420 p.S140 0.048 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors PROS1 HGNC ENSG00000184500 284 0 0 352 103 22.6374 DHFRL1 0 genome.wustl.edu 37 3 93780447 93780447 + RNA SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 93780447 93780447 G A SNP DHFRL1 ENST00000481631 human ensembl 74_37 -1 known rna NULL NULL 0.015 - - - no_errors DHFRL1 HGNC ENSG00000178700 22 0 0 44 7 13.7255 CMSS1 0 genome.wustl.edu 37 3 99897207 99897207 + Missense_Mutation SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 3 99897207 99897207 A G SNP CMSS1 ENST00000421999 human ensembl 74_37 +1 known missense c.815 p.E272G 0.993 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase - no_errors CMSS1 HGNC ENSG00000184220 103 0 0 150 25 14.2857 SLC9B2 0 genome.wustl.edu 37 4 103988638 103988638 + Missense_Mutation SNP A A C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 4 103988638 103988638 A C SNP SLC9B2 ENST00000362026 human ensembl 74_37 -1 known missense c.70 p.S24A 0.000 NULL pfam_Cation/H_exchanger - no_errors SLC9B2 HGNC ENSG00000164038 196 1 0.507614 105 53 33.5443 NDST4 0 genome.wustl.edu 37 4 115767007 115767007 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 4 115767007 115767007 G A SNP NDST4 ENST00000264363 human ensembl 74_37 -1 known missense c.2087 p.P696L 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST4 HGNC ENSG00000138653 147 0 0 83 48 36.6412 BBS7 0 genome.wustl.edu 37 4 122754405 122754405 + Nonsense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 4 122754405 122754405 G A SNP BBS7 ENST00000264499 human ensembl 74_37 -1 known nonsense c.1657 p.Q553* 1.000 pirsf_Bardet-Biedl_syndrome_7_prot superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot - no_errors BBS7 HGNC ENSG00000138686 143 0 0 104 47 31.1258 SLC25A31 0 genome.wustl.edu 37 4 128694699 128694699 + Missense_Mutation SNP A A C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 4 128694699 128694699 A C SNP SLC25A31 ENST00000281154 human ensembl 74_37 +1 known missense c.918 p.E306D 0.001 pfam_Mitochondrial_sb/sol_carrier,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor - no_errors SLC25A31 HGNC ENSG00000151475 126 0 0 65 35 35 GUCY1A3 0 genome.wustl.edu 37 4 156634545 156634545 + Missense_Mutation SNP A A C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 4 156634545 156634545 A C SNP GUCY1A3 ENST00000296518 human ensembl 74_37 +1 known missense c.1382 p.E461A 1.000 pfam_Haem_no_assoc-bd,smart_A/G_cyclase pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A3 HGNC ENSG00000164116 93 0 0 69 21 23.3333 FAT1 0 genome.wustl.edu 37 4 187629762 187629762 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 4 187629762 187629762 C T SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.1220 p.G407E 0.998 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 296 0 0 177 67 27.459 HAUS3 0 genome.wustl.edu 37 4 2240726 2240726 + Silent SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 4 2240726 2240726 G A SNP HAUS3 ENST00000243706 human ensembl 74_37 -1 known silent c.954 p.T318 0.000 NULL NULL - no_errors HAUS3 HGNC ENSG00000214367 125 0 0 89 36 28.8 PPARGC1A 0 genome.wustl.edu 37 4 23815666 23815666 + Silent SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 4 23815666 23815666 C T SNP PPARGC1A ENST00000264867 human ensembl 74_37 -1 known silent c.1440 p.K480 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1A HGNC ENSG00000109819 199 0 0 161 53 24.7664 ZNF721 0 genome.wustl.edu 37 4 435590 435590 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 4 435590 435590 C T SNP ZNF721 ENST00000511833 human ensembl 74_37 -1 known missense c.2666 p.G889E 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF721 HGNC ENSG00000182903 80 0 0 59 27 31.3953 PIGG 0 genome.wustl.edu 37 4 533039 533039 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 4 533039 533039 T G SNP PIGG ENST00000453061 human ensembl 74_37 +1 known missense c.2833 p.L945V 0.951 NULL pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors PIGG HGNC ENSG00000174227 188 0 0 91 62 40.5229 CLOCK 0 genome.wustl.edu 37 4 56310904 56310904 + Missense_Mutation SNP A A C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 4 56310904 56310904 A C SNP CLOCK ENST00000309964 human ensembl 74_37 -1 known missense c.1588 p.L530V 0.993 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom,prints_Nuc_translocat - no_errors CLOCK HGNC ENSG00000134852 171 0 0 102 50 32.8947 CLOCK 0 genome.wustl.edu 37 4 56319950 56319950 + Silent SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 4 56319950 56319950 G A SNP CLOCK ENST00000309964 human ensembl 74_37 -1 known silent c.1024 p.L342 1.000 pfam_PAS_fold_3,superfamily_PAS,smart_PAC pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom,prints_Nuc_translocat - no_errors CLOCK HGNC ENSG00000134852 92 0 0 48 37 43.5294 EPHA5 0 genome.wustl.edu 37 4 66467875 66467875 + Missense_Mutation SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 4 66467875 66467875 A G SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known missense c.394 p.F132L 1.000 pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom,pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 237 0 0 126 66 34.375 RUFY3 0 genome.wustl.edu 37 4 71640928 71640928 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 4 71640928 71640928 G A SNP RUFY3 ENST00000417478 human ensembl 74_37 +1 known missense c.982 p.E328K 1.000 superfamily_Prefoldin pfam_Run,superfamily_Prefoldin,smart_Run,pfscan_Run - no_errors RUFY3 HGNC ENSG00000018189 179 0 0 130 47 26.5537 HERC3 0 genome.wustl.edu 37 4 89588548 89588548 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 4 89588548 89588548 C T SNP HERC3 ENST00000264345 human ensembl 74_37 +1 known missense c.1352 p.T451M 0.982 NULL pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC3 HGNC ENSG00000138641 72 0 0 62 26 29.5455 SLC2A9 0 genome.wustl.edu 37 4 9909888 9909888 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 4 9909888 9909888 C T SNP SLC2A9 ENST00000264784 human ensembl 74_37 -1 known missense c.1084 p.G362S 0.009 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A9 HGNC ENSG00000109667 159 0 0 97 33 25.3846 SLCO4C1 0 genome.wustl.edu 37 5 101593661 101593661 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 5 101593661 101593661 G A SNP SLCO4C1 ENST00000310954 human ensembl 74_37 -1 known missense c.1259 p.A420V 1.000 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 134 0 0 71 35 33.0189 YTHDC2 0 genome.wustl.edu 37 5 112917175 112917175 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 5 112917175 112917175 G A SNP YTHDC2 ENST00000161863 human ensembl 74_37 +1 known missense c.3416 p.R1139K 1.000 NULL pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors YTHDC2 HGNC ENSG00000047188 227 0 0 124 65 34.3915 CTNND2 0 genome.wustl.edu 37 5 11732288 11732288 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 5 11732288 11732288 G A SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known missense c.134 p.T45I 0.999 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 148 0 0 87 69 44.2308 DNAH5 0 genome.wustl.edu 37 5 13864542 13864542 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 5 13864542 13864542 C T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.4560 p.M1520I 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 155 0 0 101 44 30.3448 PCDHB7 0 genome.wustl.edu 37 5 140553975 140553975 + Missense_Mutation SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 5 140553975 140553975 A G SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known missense c.1559 p.D520G 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 87 0 0 66 35 34.6535 PCDHGA2 0 genome.wustl.edu 37 5 140720519 140720519 + Missense_Mutation SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 5 140720519 140720519 A G SNP PCDHGA2 ENST00000394576 human ensembl 74_37 +1 known missense c.1981 p.T661A 0.170 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 61 0 0 58 20 25.641 PCDHGA2 0 genome.wustl.edu 37 5 140720559 140720559 + Missense_Mutation SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 5 140720559 140720559 A G SNP PCDHGA2 ENST00000394576 human ensembl 74_37 +1 known missense c.2021 p.D674G 0.996 pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 106 0 0 86 24 21.8182 PCDHGA3 0 genome.wustl.edu 37 5 140724034 140724034 + Missense_Mutation SNP T T C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 5 140724034 140724034 T C SNP PCDHGA3 ENST00000253812 human ensembl 74_37 +1 known missense c.434 p.L145P 0.002 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 101 0 0 57 30 34.4828 PCDHGB3 0 genome.wustl.edu 37 5 140751700 140751700 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 5 140751700 140751700 G A SNP PCDHGB3 ENST00000576222 human ensembl 74_37 +1 known missense c.1739 p.R580H 0.199 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB3 HGNC ENSG00000262209 73 0 0 42 27 39.1304 FAM105A 0 genome.wustl.edu 37 5 14601526 14601526 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 5 14601526 14601526 C T SNP FAM105A ENST00000274217 human ensembl 74_37 +1 known missense c.323 p.T108I 0.315 NULL prints_FAM105,prints_FAM105A - no_errors FAM105A HGNC ENSG00000145569 110 0 0 56 29 34.1176 OR2Y1 0 genome.wustl.edu 37 5 180166564 180166564 + Silent SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 5 180166564 180166564 G A SNP OR2Y1 ENST00000307832 human ensembl 74_37 -1 known silent c.495 p.A165 0.010 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2Y1 HGNC ENSG00000174339 81 0 0 45 25 35.7143 RXFP3 0 genome.wustl.edu 37 5 33937024 33937024 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 5 33937024 33937024 C T SNP RXFP3 ENST00000330120 human ensembl 74_37 +1 known missense c.179 p.A60V 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors RXFP3 HGNC ENSG00000182631 87 0 0 67 51 43.2203 RAI14 0 genome.wustl.edu 37 5 34686994 34686994 + RNA SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 5 34686994 34686994 C T SNP RAI14 ENST00000511652 human ensembl 74_37 +1 known rna NULL NULL 0.183 - - - no_errors RAI14 HGNC ENSG00000039560 126 0 0 77 43 35.8333 PRLR 0 genome.wustl.edu 37 5 35068965 35068965 + Missense_Mutation SNP T T C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 5 35068965 35068965 T C SNP PRLR ENST00000382002 human ensembl 74_37 -1 known missense c.701 p.D234G 0.988 NULL pfam_Growth/epo_recpt_lig-bind,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PRLR HGNC ENSG00000113494 49 0 0 32 13 28.8889 ADAMTS6 0 genome.wustl.edu 37 5 64511238 64511238 + Silent SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 5 64511238 64511238 A G SNP ADAMTS6 ENST00000381055 human ensembl 74_37 -1 known silent c.2349 p.A783 1.000 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS6 HGNC ENSG00000049192 186 0 0 124 61 32.973 BDP1 0 genome.wustl.edu 37 5 70805419 70805419 + Missense_Mutation SNP C C A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 5 70805419 70805419 C A SNP BDP1 ENST00000358731 human ensembl 74_37 +1 known missense c.2500 p.L834I 0.003 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 157 0 0 108 37 25.5172 HEXB 0 genome.wustl.edu 37 5 74001088 74001088 + Silent SNP A A T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 5 74001088 74001088 A T SNP HEXB ENST00000261416 human ensembl 74_37 +1 known silent c.714 p.I238 0.956 pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF,prints_Beta_hexosaminidase_sua/sub pfam_Glyco_hydro_20_cat-core,pfam_Glyco_hydro_20b,superfamily_Glycoside_hydrolase_SF,prints_Beta_hexosaminidase_sua/sub - no_errors HEXB HGNC ENSG00000049860 129 1 0.769231 89 37 29.3651 DMGDH 0 genome.wustl.edu 37 5 78324391 78324391 + Missense_Mutation SNP C C A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 5 78324391 78324391 C A SNP DMGDH ENST00000255189 human ensembl 74_37 -1 known missense c.1897 p.A633S 1.000 pfam_GCV_T_N,pfam_SoxG pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_SoxG - no_errors DMGDH HGNC ENSG00000132837 524 1 0.190476 316 132 29.4643 GPR98 0 genome.wustl.edu 37 5 90124912 90124912 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 5 90124912 90124912 C T SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.16520 p.A5507V 1.000 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 312 0 0 228 84 26.9231 LIN28B 0 genome.wustl.edu 37 6 105526496 105526496 + Silent SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 6 105526496 105526496 C T SNP LIN28B ENST00000345080 human ensembl 74_37 +1 known silent c.591 p.G197 0.206 NULL pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,superfamily_Znf_CCHC,smart_Cold_shock_prot,smart_Znf_CCHC,pfscan_Znf_CCHC,prints_CSP_DNA-bd - no_errors LIN28B HGNC ENSG00000187772 97 0 0 66 26 28.2609 SYCP2L 0 genome.wustl.edu 37 6 10907896 10907896 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 6 10907896 10907896 T G SNP SYCP2L ENST00000283141 human ensembl 74_37 +1 known missense c.798 p.I266M 0.917 NULL NULL - no_errors SYCP2L HGNC ENSG00000153157 226 1 0.440529 159 63 28.3784 SLC22A16 0 genome.wustl.edu 37 6 110777963 110777963 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 6 110777963 110777963 T G SNP SLC22A16 ENST00000368919 human ensembl 74_37 -1 known missense c.311 p.N104T 0.000 NULL pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A16 HGNC ENSG00000004809 317 0 0 220 85 27.8689 HINT3 0 genome.wustl.edu 37 6 126288037 126288037 + Missense_Mutation SNP A A T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 6 126288037 126288037 A T SNP HINT3 ENST00000229633 human ensembl 74_37 +1 known missense c.206 p.E69V 1.000 pfam_Histidine_triad_HIT,superfamily_HIT-like,pfscan_HIT-like pfam_Histidine_triad_HIT,superfamily_HIT-like,pfscan_HIT-like - no_errors HINT3 HGNC ENSG00000111911 92 0 0 41 26 38.806 MTHFD1L 0 genome.wustl.edu 37 6 151281519 151281519 + Missense_Mutation SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 6 151281519 151281519 A G SNP MTHFD1L ENST00000367321 human ensembl 74_37 +1 known missense c.1912 p.K638E 0.989 pfam_Formate_THF_ligase,superfamily_P-loop_NTPase pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,superfamily_P-loop_NTPase,prints_THF_DH/CycHdrlase - no_errors MTHFD1L HGNC ENSG00000120254 25 0 0 11 5 31.25 FOXC1 0 genome.wustl.edu 37 6 1611204 1611204 + Missense_Mutation SNP A A C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 6 1611204 1611204 A C SNP FOXC1 ENST00000380874 human ensembl 74_37 +1 known missense c.524 p.K175T 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXC1 HGNC ENSG00000054598 18 0 0 10 6 37.5 PGBD1 0 genome.wustl.edu 37 6 28269472 28269472 + Missense_Mutation SNP T T A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 6 28269472 28269472 T A SNP PGBD1 ENST00000259883 human ensembl 74_37 +1 known missense c.1841 p.L614H 1.000 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_SRCR,pfscan_Tscrpt_reg_SCAN - no_errors PGBD1 HGNC ENSG00000137338 328 0 0 214 103 32.4921 PRR3 0 genome.wustl.edu 37 6 30530320 30530320 + RNA SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 6 30530320 30530320 G A SNP PRR3 ENST00000481741 human ensembl 74_37 +1 known rna NULL NULL 0.028 - - - no_errors PRR3 HGNC ENSG00000204576 108 0 0 76 29 27.619 MDC1 0 genome.wustl.edu 37 6 30671627 30671627 + Missense_Mutation SNP A A C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 6 30671627 30671627 A C SNP MDC1 ENST00000376406 human ensembl 74_37 -1 known missense c.5333 p.L1778R 0.000 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 154 0 0 118 67 36.2162 C6orf10 0 genome.wustl.edu 37 6 32261435 32261435 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 6 32261435 32261435 T G SNP C6orf10 ENST00000447241 human ensembl 74_37 -1 known missense c.1015 p.K339Q 0.000 NULL NULL - no_errors C6orf10 HGNC ENSG00000204296 345 0 0 221 92 29.393 HLA-DOA 0 genome.wustl.edu 37 6 32974922 32974922 + Silent SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 6 32974922 32974922 G A SNP HLA-DOA ENST00000229829 human ensembl 74_37 -1 known silent c.684 p.G228 0.990 NULL pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DOA HGNC ENSG00000204252 165 0 0 113 53 31.9277 MDGA1 0 genome.wustl.edu 37 6 37626122 37626122 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 6 37626122 37626122 C T SNP MDGA1 ENST00000297153 human ensembl 74_37 -1 known missense c.281 p.R94H 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA1 HGNC ENSG00000112139 39 0 0 45 7 13.4615 DNAH8 0 genome.wustl.edu 37 6 38877485 38877485 + Silent SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 6 38877485 38877485 C T SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known silent c.9054 p.D3018 0.182 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 131 0 0 66 29 30.5263 DNAH8 0 genome.wustl.edu 37 6 38906676 38906676 + Silent SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 6 38906676 38906676 C T SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known silent c.11268 p.H3756 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 131 0 0 76 51 40.1575 SPATS1 0 genome.wustl.edu 37 6 44320470 44320470 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 6 44320470 44320470 T G SNP SPATS1 ENST00000288390 human ensembl 74_37 +1 known missense c.147 p.N49K 0.000 NULL NULL - no_errors SPATS1 HGNC ENSG00000249481 109 0 0 60 40 40 TDRD6 0 genome.wustl.edu 37 6 46656373 46656373 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 6 46656373 46656373 G A SNP TDRD6 ENST00000316081 human ensembl 74_37 +1 known missense c.508 p.V170I 1.000 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 72 0 0 63 25 28.4091 TDRD6 0 genome.wustl.edu 37 6 46658380 46658380 + Missense_Mutation SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 6 46658380 46658380 A G SNP TDRD6 ENST00000316081 human ensembl 74_37 +1 known missense c.2515 p.S839G 0.023 pfam_Tudor,smart_Tudor,pfscan_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 232 0 0 127 89 41.2037 F13A1 0 genome.wustl.edu 37 6 6174920 6174920 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 6 6174920 6174920 C T SNP F13A1 ENST00000264870 human ensembl 74_37 -1 known missense c.1640 p.R547H 0.000 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors F13A1 HGNC ENSG00000124491 183 0 0 106 68 39.0805 LGSN 0 genome.wustl.edu 37 6 63990680 63990680 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 6 63990680 63990680 G A SNP LGSN ENST00000370657 human ensembl 74_37 -1 known missense c.776 p.S259F 1.000 pfam_Gln_synth_cat_dom pfam_Gln_synth_cat_dom,pfam_Gln_synt_beta,superfamily_Gln_synt_beta - no_errors LGSN HGNC ENSG00000146166 65 0 0 65 24 26.9663 LMBRD1 0 genome.wustl.edu 37 6 70409038 70409038 + Missense_Mutation SNP A A C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 6 70409038 70409038 A C SNP LMBRD1 ENST00000370577 human ensembl 74_37 -1 known missense c.1235 p.F412C 1.000 NULL pfam_LMBR1-like_membr_prot - no_errors LMBRD1 HGNC ENSG00000168216 156 0 0 96 52 35.1351 RIMS1 0 genome.wustl.edu 37 6 72967833 72967833 + Missense_Mutation SNP T T C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 6 72967833 72967833 T C SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.2776 p.Y926H 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 40 0 0 30 16 34.7826 PNISR 0 genome.wustl.edu 37 6 99849296 99849296 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 6 99849296 99849296 G A SNP PNISR ENST00000369239 human ensembl 74_37 -1 known missense c.1538 p.S513F 1.000 NULL NULL - no_errors PNISR HGNC ENSG00000132424 120 0 0 73 30 29.1262 RELN 0 genome.wustl.edu 37 7 103183254 103183254 + Missense_Mutation SNP T T C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 7 103183254 103183254 T C SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.6595 p.S2199G 1.000 superfamily_Sialidases pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 224 0 0 212 71 25.0883 CDHR3 0 genome.wustl.edu 37 7 105615310 105615310 + Missense_Mutation SNP A A C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 7 105615310 105615310 A C SNP CDHR3 ENST00000317716 human ensembl 74_37 +1 known missense c.67 p.I23L 0.000 pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR3 HGNC ENSG00000128536 118 0 0 137 44 24.3094 CDHR3 0 genome.wustl.edu 37 7 105673077 105673077 + Silent SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 7 105673077 105673077 C T SNP CDHR3 ENST00000317716 human ensembl 74_37 +1 known silent c.2592 p.G864 0.229 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR3 HGNC ENSG00000128536 30 0 0 39 14 26.4151 ST7 0 genome.wustl.edu 37 7 116759770 116759770 + Silent SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 7 116759770 116759770 C T SNP ST7 ENST00000265437 human ensembl 74_37 +1 known silent c.390 p.V130 0.998 pfam_ST7 pfam_ST7 - no_errors ST7 HGNC ENSG00000004866 152 0 0 150 41 21.466 RNF148 0 genome.wustl.edu 37 7 122342678 122342678 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 7 122342678 122342678 T G SNP RNF148 ENST00000434824 human ensembl 74_37 -1 known missense c.127 p.N43H 1.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF148 HGNC ENSG00000235631 82 0 0 75 6 7.40741 SND1 0 genome.wustl.edu 37 7 127732207 127732207 + RNA SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 7 127732207 127732207 A G SNP SND1 ENST00000485871 human ensembl 74_37 +1 known rna NULL NULL 0.317 - - - no_errors SND1 HGNC ENSG00000197157 51 0 0 40 15 27.2727 FLNC 0 genome.wustl.edu 37 7 128470736 128470736 + Silent SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 7 128470736 128470736 C T SNP FLNC ENST00000325888 human ensembl 74_37 +1 known silent c.45 p.G15 0.948 NULL pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 16 0 0 15 5 25 TNPO3 0 genome.wustl.edu 37 7 128630217 128630217 + Silent SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 7 128630217 128630217 C T SNP TNPO3 ENST00000393245 human ensembl 74_37 -1 known silent c.1398 p.L466 0.631 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold - no_errors TNPO3 HGNC ENSG00000064419 113 0 0 105 98 48.2759 WDR91 0 genome.wustl.edu 37 7 134890686 134890686 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 7 134890686 134890686 G A SNP WDR91 ENST00000354475 human ensembl 74_37 -1 known missense c.719 p.S240L 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR91 HGNC ENSG00000105875 172 0 0 217 72 24.9135 DENND2A 0 genome.wustl.edu 37 7 140285447 140285447 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 7 140285447 140285447 T G SNP DENND2A ENST00000275884 human ensembl 74_37 -1 known missense c.1187 p.K396T 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2A HGNC ENSG00000146966 258 0 0 227 73 24.3333 CASP2 0 genome.wustl.edu 37 7 143002236 143002236 + RNA SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 7 143002236 143002236 T G SNP CASP2 ENST00000493642 human ensembl 74_37 +1 known rna NULL NULL 0.651 - - - no_errors CASP2 HGNC ENSG00000106144 48 0 0 36 15 29.4118 ZNF282 0 genome.wustl.edu 37 7 148903882 148903882 + Missense_Mutation SNP T T C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 7 148903882 148903882 T C SNP ZNF282 ENST00000262085 human ensembl 74_37 +1 known missense c.680 p.V227A 0.013 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF282 HGNC ENSG00000170265 272 0 0 248 74 22.9814 AGMO 0 genome.wustl.edu 37 7 15427074 15427074 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 7 15427074 15427074 C T SNP AGMO ENST00000342526 human ensembl 74_37 -1 known missense c.914 p.G305D 0.997 NULL pfam_Fatty_acid_hydroxylase - no_errors AGMO HGNC ENSG00000187546 233 0 0 247 74 23.053 DNAH11 0 genome.wustl.edu 37 7 21751479 21751479 + Splice_Site SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 7 21751479 21751479 G A SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known splice_site c.7004+1 e43+1 1.000 - - - no_errors DNAH11 HGNC ENSG00000105877 31 0 0 31 18 36.7347 HOXA6 0 genome.wustl.edu 37 7 27187000 27187000 + Silent SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 7 27187000 27187000 G A SNP HOXA6 ENST00000222728 human ensembl 74_37 -1 known silent c.369 p.L123 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA6 HGNC ENSG00000106006 140 0 0 113 35 23.6486 CRHR2 0 genome.wustl.edu 37 7 30695305 30695305 + Missense_Mutation SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 7 30695305 30695305 A G SNP CRHR2 ENST00000348438 human ensembl 74_37 -1 known missense c.1025 p.L342P 1.000 pfam_GPCR_2_secretin-like,prints_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF2_rcpt,prints_GPCR_2_diuretic_rcpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors CRHR2 HGNC ENSG00000106113 204 2 0.970874 195 71 26.6917 HERPUD2 0 genome.wustl.edu 37 7 35674016 35674016 + Missense_Mutation SNP A A C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 7 35674016 35674016 A C SNP HERPUD2 ENST00000311350 human ensembl 74_37 -1 known missense c.965 p.F322C 1.000 NULL pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors HERPUD2 HGNC ENSG00000122557 119 0 0 100 31 23.6641 AOAH 0 genome.wustl.edu 37 7 36580049 36580049 + Silent SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 7 36580049 36580049 G A SNP AOAH ENST00000258749 human ensembl 74_37 -1 known silent c.1182 p.S394 0.215 pfam_Lipase_GDSL pfam_Lipase_GDSL,pfam_SapB_2,superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB - no_errors AOAH HGNC ENSG00000136250 94 0 0 85 24 22.0183 ZMIZ2 0 genome.wustl.edu 37 7 44801066 44801066 + Missense_Mutation SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 7 44801066 44801066 A G SNP ZMIZ2 ENST00000309315 human ensembl 74_37 +1 known missense c.1259 p.E420G 1.000 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ2 HGNC ENSG00000122515 56 0 0 59 13 18.0556 RBAK 0 genome.wustl.edu 37 7 5104689 5104689 + Missense_Mutation SNP A A T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 7 5104689 5104689 A T SNP RBAK ENST00000353796 human ensembl 74_37 +1 known missense c.1602 p.K534N 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors RBAK HGNC ENSG00000146587 163 1 0.609756 143 33 18.75 ZNF716 0 genome.wustl.edu 37 7 57529170 57529170 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 7 57529170 57529170 T G SNP ZNF716 ENST00000420713 human ensembl 74_37 +1 known missense c.1003 p.L335V 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF716 HGNC ENSG00000182111 57 0 0 49 20 28.9855 RAC1 0 genome.wustl.edu 37 7 6442041 6442041 + Silent SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 7 6442041 6442041 C T SNP RAC1 ENST00000356142 human ensembl 74_37 +1 known silent c.600 p.P200 0.086 superfamily_P-loop_NTPase pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAC1 HGNC ENSG00000136238 35 0 0 39 11 22 RPA3 0 genome.wustl.edu 37 7 7676645 7676645 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 7 7676645 7676645 C T SNP RPA3 ENST00000223129 human ensembl 74_37 -1 known missense c.352 p.V118M 0.000 NULL pfam_Rep_factor-A_3,superfamily_NA-bd_OB-fold - no_errors RPA3 HGNC ENSG00000106399 252 0 0 213 68 24.1993 GSAP 0 genome.wustl.edu 37 7 76941425 76941425 + Missense_Mutation SNP T T C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 7 76941425 76941425 T C SNP GSAP ENST00000257626 human ensembl 74_37 -1 known missense c.2366 p.K789R 1.000 NULL NULL - no_errors GSAP HGNC ENSG00000186088 66 0 0 56 22 28.2051 PCLO 0 genome.wustl.edu 37 7 82474775 82474775 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 7 82474775 82474775 C T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.13858 p.D4620N 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 41 0 0 49 8 14.0351 FZD1 0 genome.wustl.edu 37 7 90895500 90895500 + Nonsense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 7 90895500 90895500 G A SNP FZD1 ENST00000287934 human ensembl 74_37 +1 known nonsense c.1305 p.W435* 1.000 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD1 HGNC ENSG00000157240 75 0 0 88 29 24.7863 SAMD9L 0 genome.wustl.edu 37 7 92763078 92763078 + Missense_Mutation SNP A A C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 7 92763078 92763078 A C SNP SAMD9L ENST00000318238 human ensembl 74_37 -1 known missense c.2207 p.I736S 0.994 superfamily_P-loop_NTPase superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 352 0 0 240 89 27.0517 PRSS55 0 genome.wustl.edu 37 8 10383244 10383244 + Missense_Mutation SNP T T C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 8 10383244 10383244 T C SNP PRSS55 ENST00000328655 human ensembl 74_37 +1 known missense c.149 p.V50A 0.000 NULL pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS55 HGNC ENSG00000184647 19 0 0 13 8 38.0952 COLEC10 0 genome.wustl.edu 37 8 120118230 120118230 + Missense_Mutation SNP A A T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 8 120118230 120118230 A T SNP COLEC10 ENST00000332843 human ensembl 74_37 +1 known missense c.634 p.N212Y 0.993 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors COLEC10 HGNC ENSG00000184374 67 0 0 48 29 37.6623 DLC1 0 genome.wustl.edu 37 8 12960317 12960317 + Missense_Mutation SNP A A C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 8 12960317 12960317 A C SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known missense c.1548 p.I516M 0.464 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 248 0 0 169 49 22.4771 GSDMC 0 genome.wustl.edu 37 8 130763788 130763788 + Missense_Mutation SNP T T C TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 8 130763788 130763788 T C SNP GSDMC ENST00000276708 human ensembl 74_37 -1 known missense c.943 p.N315D 0.181 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMC HGNC ENSG00000147697 147 0 0 99 40 28.777 GSDMC 0 genome.wustl.edu 37 8 130788350 130788350 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 8 130788350 130788350 T G SNP GSDMC ENST00000276708 human ensembl 74_37 -1 known missense c.402 p.K134N 0.168 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMC HGNC ENSG00000147697 99 0 0 65 38 36.8932 MYOM2 0 genome.wustl.edu 37 8 2092696 2092696 + Nonsense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 8 2092696 2092696 C T SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known nonsense c.4189 p.Q1397* 1.000 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM2 HGNC ENSG00000036448 91 0 0 72 35 32.7103 CSMD1 0 genome.wustl.edu 37 8 2836245 2836245 + Missense_Mutation SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 8 2836245 2836245 A G SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.8458 p.Y2820H 0.995 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 35 0 0 16 12 42.8571 DCTN6 0 genome.wustl.edu 37 8 30034704 30034704 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 8 30034704 30034704 C T SNP DCTN6 ENST00000221114 human ensembl 74_37 +1 known missense c.257 p.T86I 1.000 superfamily_Trimer_LpxA-like superfamily_Trimer_LpxA-like - no_errors DCTN6 HGNC ENSG00000104671 117 0 0 97 30 23.622 DDHD2 0 genome.wustl.edu 37 8 38095637 38095637 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 8 38095637 38095637 T G SNP DDHD2 ENST00000397166 human ensembl 74_37 +1 known missense c.532 p.S178A 0.991 NULL pfam_DDHD,pfam_WWE-dom,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD,pfscan_WWE-dom - no_errors DDHD2 HGNC ENSG00000085788 206 0 0 123 50 28.9017 ST18 0 genome.wustl.edu 37 8 53028967 53028967 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 8 53028967 53028967 C T SNP ST18 ENST00000276480 human ensembl 74_37 -1 known missense c.2871 p.M957I 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 152 0 0 107 37 25.6944 C8orf46 0 genome.wustl.edu 37 8 67428149 67428149 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 8 67428149 67428149 G A SNP C8orf46 ENST00000305454 human ensembl 74_37 +1 known missense c.462 p.M154I 0.059 NULL NULL - no_errors C8orf46 HGNC ENSG00000169085 112 1 0.884956 83 45 35.1562 KIAA1429 0 genome.wustl.edu 37 8 95527160 95527160 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 8 95527160 95527160 T G SNP KIAA1429 ENST00000297591 human ensembl 74_37 -1 known missense c.2688 p.E896D 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA1429 HGNC ENSG00000164944 87 0 0 58 18 23.6842 FOXE1 0 genome.wustl.edu 37 9 100617277 100617277 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 9 100617277 100617277 G A SNP FOXE1 ENST00000375123 human ensembl 74_37 +1 known missense c.1081 p.A361T 0.951 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXE1 HGNC ENSG00000178919 40 0 0 26 12 31.5789 NIPSNAP3B 0 genome.wustl.edu 37 9 107533246 107533246 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 9 107533246 107533246 G A SNP NIPSNAP3B ENST00000374762 human ensembl 74_37 +1 known missense c.547 p.V183I 0.998 pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel - no_errors NIPSNAP3B HGNC ENSG00000165028 230 0 0 140 86 38.0531 PALM2-AKAP2 0 genome.wustl.edu 37 9 112899000 112899000 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 9 112899000 112899000 T G SNP PALM2-AKAP2 ENST00000374530 human ensembl 74_37 +1 known missense c.1176 p.C392W 0.000 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC ENSG00000157654 66 0 0 39 23 37.0968 PHYHD1 0 genome.wustl.edu 37 9 131702969 131702969 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 9 131702969 131702969 C T SNP PHYHD1 ENST00000308941 human ensembl 74_37 +1 known missense c.656 p.S219F 0.210 NULL pfam_Phytyl_CoA_dOase - no_errors PHYHD1 HGNC ENSG00000175287 64 0 0 52 4 7.14286 MED22 0 genome.wustl.edu 37 9 136208530 136208530 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 9 136208530 136208530 T G SNP MED22 ENST00000343730 human ensembl 74_37 -1 known missense c.428 p.E143A 1.000 NULL pfam_Mediator_Med22 - no_errors MED22 HGNC ENSG00000148297 37 0 0 29 14 32.5581 MAN1B1 0 genome.wustl.edu 37 9 139995979 139995979 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 9 139995979 139995979 C T SNP MAN1B1 ENST00000371589 human ensembl 74_37 +1 known missense c.1109 p.S370F 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1B1 HGNC ENSG00000177239 101 0 0 60 34 36.1702 CNTLN 0 genome.wustl.edu 37 9 17309068 17309068 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 9 17309068 17309068 T G SNP CNTLN ENST00000380647 human ensembl 74_37 +1 known missense c.1159 p.L387V 1.000 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 58 0 0 32 21 39.6226 LINGO2 0 genome.wustl.edu 37 9 27949805 27949805 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 9 27949805 27949805 C T SNP LINGO2 ENST00000308675 human ensembl 74_37 -1 known missense c.865 p.E289K 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO2 HGNC ENSG00000174482 158 0 0 110 77 41.1765 ACO1 0 genome.wustl.edu 37 9 32430504 32430504 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 9 32430504 32430504 C T SNP ACO1 ENST00000309951 human ensembl 74_37 +1 known missense c.1658 p.S553F 1.000 pfam_Acoase/IPM_deHydtase_lsu_aba,superfamily_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 - no_errors ACO1 HGNC ENSG00000122729 232 0 0 110 90 45 TAF1L 0 genome.wustl.edu 37 9 32634599 32634599 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 9 32634599 32634599 C T SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known missense c.979 p.D327N 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 204 0 0 133 50 27.3224 UBE2R2 0 genome.wustl.edu 37 9 33900231 33900231 + Silent SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 9 33900231 33900231 A G SNP UBE2R2 ENST00000263228 human ensembl 74_37 +1 known silent c.324 p.E108 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2R2 HGNC ENSG00000107341 174 0 0 112 72 39.1304 FAM214B 0 genome.wustl.edu 37 9 35107429 35107429 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 9 35107429 35107429 T G SNP FAM214B ENST00000322813 human ensembl 74_37 -1 known missense c.843 p.K281N 1.000 NULL NULL - no_errors FAM214B HGNC ENSG00000005238 186 0 0 120 81 40.2985 UNC13B 0 genome.wustl.edu 37 9 35295915 35295915 + Missense_Mutation SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 9 35295915 35295915 G A SNP UNC13B ENST00000378496 human ensembl 74_37 +1 known missense c.749 p.R250Q 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13B HGNC ENSG00000198722 28 0 0 20 8 28.5714 C9orf41 0 genome.wustl.edu 37 9 77598770 77598770 + Silent SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 9 77598770 77598770 A G SNP C9orf41 ENST00000376834 human ensembl 74_37 -1 known silent c.1143 p.S381 1.000 pfam_N2227 pfam_N2227 - no_errors C9orf41 HGNC ENSG00000156017 133 0 0 95 43 31.1594 PCSK5 0 genome.wustl.edu 37 9 78790192 78790192 + Missense_Mutation SNP C C G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 9 78790192 78790192 C G SNP PCSK5 ENST00000376767 human ensembl 74_37 +1 known missense c.2047 p.R683G 0.006 NULL pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 11 0 0 12 2 14.2857 KIF27 0 genome.wustl.edu 37 9 86518481 86518481 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 9 86518481 86518481 C T SNP KIF27 ENST00000297814 human ensembl 74_37 -1 known missense c.952 p.V318I 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF27 HGNC ENSG00000165115 181 0 0 115 56 32.7485 CDK20 0 genome.wustl.edu 37 9 90589344 90589344 + Silent SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 9 90589344 90589344 G A SNP CDK20 ENST00000325303 human ensembl 74_37 -1 known silent c.18 p.I6 1.000 pfam_Prot_kinase_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 CDK20 HGNC ENSG00000156345 29 0 0 21 7 25 ERCC6L2 0 genome.wustl.edu 37 9 98691033 98691033 + Silent SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 9 98691033 98691033 G A SNP ERCC6L2 ENST00000437817 human ensembl 74_37 +1 known silent c.1104 p.A368 0.001 pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L2 HGNC ENSG00000182150 168 0 0 134 74 35.5769 GPRASP1 0 genome.wustl.edu 37 X 101910393 101910393 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 X 101910393 101910393 T G SNP GPRASP1 ENST00000361600 human ensembl 74_37 +1 known missense c.1552 p.F518V 0.998 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP1 HGNC ENSG00000198932 138 0 0 45 87 65.9091 IRS4 0 genome.wustl.edu 37 X 107978572 107978572 + Missense_Mutation SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 X 107978572 107978572 C T SNP IRS4 ENST00000372129 human ensembl 74_37 -1 known missense c.1003 p.E335K 1.000 pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 198 1 0.502513 51 118 69.8225 FAM45B 0 genome.wustl.edu 37 X 129629095 129629095 + RNA SNP A A T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 X 129629095 129629095 A T SNP FAM45B ENST00000592932 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors FAM45B HGNC ENSG00000221930 9 0 0 2 17 89.4737 ENOX2 0 genome.wustl.edu 37 X 129771267 129771267 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 X 129771267 129771267 T G SNP ENOX2 ENST00000338144 human ensembl 74_37 -1 known missense c.1334 p.E445A 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ENOX2 HGNC ENSG00000165675 274 0 0 90 238 72.561 ATXN3L 0 genome.wustl.edu 37 X 13337535 13337535 + Missense_Mutation SNP T T G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 X 13337535 13337535 T G SNP ATXN3L ENST00000380622 human ensembl 74_37 -1 known missense c.519 p.E173D 1.000 prints_Josephin,pfscan_Josephin pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,prints_Josephin,pfscan_Josephin,pfscan_Ubiquitin-int_motif - no_errors ATXN3L HGNC ENSG00000123594 105 0 0 26 65 71.4286 SPANXN4 0 genome.wustl.edu 37 X 142121816 142121816 + Silent SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 X 142121816 142121816 G A SNP SPANXN4 ENST00000446864 human ensembl 74_37 +1 known silent c.84 p.K28 0.012 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXN4 HGNC ENSG00000189326 9 0 0 2 4 66.6667 MIR509-1 0 genome.wustl.edu 37 X 146342080 146342080 + RNA SNP G G A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 X 146342080 146342080 G A SNP MIR509-1 ENST00000385265 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR509-1 HGNC ENSG00000208000 157 0 0 46 155 77.1144 MAGEA4 0 genome.wustl.edu 37 X 151092439 151092439 + Silent SNP C C T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 X 151092439 151092439 C T SNP MAGEA4 ENST00000276344 human ensembl 74_37 +1 known silent c.303 p.D101 0.000 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA4 HGNC ENSG00000147381 86 0 0 36 81 69.2308 MAGEA3 0 genome.wustl.edu 37 X 151935737 151935737 + Missense_Mutation SNP G G T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 X 151935737 151935737 G T SNP MAGEA3 ENST00000370278 human ensembl 74_37 -1 known missense c.430 p.Q144K 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA3 HGNC ENSG00000221867 155 0 0 49 122 71.345 KAL1 0 genome.wustl.edu 37 X 8555945 8555945 + Missense_Mutation SNP A A G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 X 8555945 8555945 A G SNP KAL1 ENST00000262648 human ensembl 74_37 -1 known missense c.616 p.S206P 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Fibronectin_type3,pfscan_Fibronectin_type3,prints_WAP-type_4-diS_core - no_errors KAL1 HGNC ENSG00000011201 37 0 0 12 26 68.4211 RNASEL 0 genome.wustl.edu 37 1 182544700 182544700 + Frame_Shift_Del DEL T T - TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 1 182544700 182544700 T - DEL RNASEL ENST00000367559 human ensembl 74_37 -1 known frame_shift_del c.2053 p.I685fs 0.235 pfam_KEN_dom,smart_PUG-dom pfam_Ankyrin_rpt,pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_PUG-dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors RNASEL HGNC ENSG00000135828 110 0 0 94 30 24.1935 ARID1A 0 genome.wustl.edu 37 1 27105930 27105931 + Frame_Shift_Ins INS - - G TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 1 27105930 27105931 - G INS ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_ins c.5541_5542 p.D1849fs 1.000:1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 154 0 0 61 48 44.0367 ST6GALNAC3 0 genome.wustl.edu 37 1 76877904 76877904 + Frame_Shift_Del DEL A A - TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 1 76877904 76877904 A - DEL ST6GALNAC3 ENST00000328299 human ensembl 74_37 +1 known frame_shift_del c.425 p.Y142fs 1.000 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALNAC3 HGNC ENSG00000184005 216 0 0 153 39 20.3125 TDRD1 0 genome.wustl.edu 37 10 115947899 115947900 + Frame_Shift_Ins INS - - A TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 10 115947899 115947900 - A INS TDRD1 ENST00000251864 human ensembl 74_37 +1 known frame_shift_ins c.309_310 p.L105fs 0.555:0.570 NULL pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND - no_errors TDRD1 HGNC ENSG00000095627 141 0 0 100 39 28.0576 PPP1R3C 0 genome.wustl.edu 37 10 93389733 93389733 + Frame_Shift_Del DEL G G - TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 10 93389733 93389733 G - DEL PPP1R3C ENST00000238994 human ensembl 74_37 -1 known frame_shift_del c.905 p.P302fs 1.000 pirsf_Pase-1_Glycogen_target-su_met pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21 - no_errors PPP1R3C HGNC ENSG00000119938 132 0 0 103 28 21.374 EEF1G 0 genome.wustl.edu 37 11 62327809 62327810 + Frame_Shift_Del DEL CT CT - TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 11 62327809 62327810 CT - DEL EEF1G ENST00000378019 human ensembl 74_37 -1 known frame_shift_del c.1125_1124 p.E375fs 1.000:1.000 pfam_Transl_elong_EF1_G_con,superfamily_Transl_elong_EF1_G_con,pfscan_Transl_elong_EF1_G_con pfam_Transl_elong_EF1_G_con,pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Transl_elong_EF1_G_con,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,pfscan_Transl_elong_EF1_G_con - no_errors EEF1G HGNC ENSG00000254772 30 0 0 29 11 27.5 SLC8B1 0 genome.wustl.edu 37 12 113759072 113759073 + Frame_Shift_Ins INS - - CCCC TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 12 113759072 113759073 - CCCC INS SLC8B1 ENST00000202831 human ensembl 74_37 -1 known frame_shift_ins c.238_237 p.Y79fs 0.998:0.864 NULL pfam_NaCa_Exmemb - no_errors SLC8B1 HGNC ENSG00000089060 191 0 0 183 37 16.8182 KANSL1L 0 genome.wustl.edu 37 2 210908810 210908810 + Frame_Shift_Del DEL T T - TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 2 210908810 210908810 T - DEL KANSL1L ENST00000281772 human ensembl 74_37 -1 known frame_shift_del c.1774 p.T592fs 0.465 NULL NULL - no_errors KANSL1L HGNC ENSG00000144445 189 0 0 95 60 38.7097 SLC24A3 0 genome.wustl.edu 37 20 19565697 19565698 + In_Frame_Ins INS - - AGGTAGGTG TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 20 19565697 19565698 - AGGTAGGTG INS SLC24A3 ENST00000328041 human ensembl 74_37 +1 known in_frame_ins c.506_507 p.VFI171in_frame_insR* 1.000:1.000 pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A3 HGNC ENSG00000185052 89 0 0 70 16 18.6047 RBM47 0 genome.wustl.edu 37 4 40440536 40440537 + Frame_Shift_Ins INS - - T TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 4 40440536 40440537 - T INS RBM47 ENST00000295971 human ensembl 74_37 -1 known frame_shift_ins c.375_374 p.R126fs 1.000:1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors RBM47 HGNC ENSG00000163694 69 0 0 64 29 31.1828 DDX46 0 genome.wustl.edu 37 5 134099702 134099707 + In_Frame_Del DEL TAGAGA TAGAGA - TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 TAGAGA TAGAGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 5 134099702 134099707 TAGAGA - DEL DDX46 ENST00000452510 human ensembl 74_37 +1 known in_frame_del c.126_131 p.DR46in_frame_del 0.794:0.935:1.000:1.000:1.000:1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX46 HGNC ENSG00000145833 137 0 0 73 29 28.4314 TRDN 0 genome.wustl.edu 37 6 123786033 123786033 + Frame_Shift_Del DEL A A - TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 6 123786033 123786033 A - DEL TRDN ENST00000546248 human ensembl 74_37 -1 known frame_shift_del c.889 p.S297fs 0.000 NULL pfam_Asp-B-hydro/Triadin_dom - no_errors TRDN HGNC ENSG00000186439 12 0 0 8 4 33.3333 COL12A1 0 genome.wustl.edu 37 6 75833113 75833113 + Frame_Shift_Del DEL T T - TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 6 75833113 75833113 T - DEL COL12A1 ENST00000322507 human ensembl 74_37 -1 known frame_shift_del c.6879 p.K2293fs 0.999 NULL pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 23 0 0 14 9 39.1304 SEC16A 0 genome.wustl.edu 37 9 139366565 139366566 + Splice_Site INS - - GTGGGAGG TCGA-B7-5818-01A-11D-1600-08 TCGA-B7-5818-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1146e861-b45e-4c5d-b1dd-c4045349cd1a c4840f34-7adb-4861-960e-9e5dd9372be6 9 139366565 139366566 - GTGGGAGG INS SEC16A ENST00000313050 human ensembl 74_37 -1 known splice_site_ins c.3568-3_3568-2 e2-2 0.982:0.274 - - - no_errors SEC16A HGNC ENSG00000148396 50 0 0 41 5 10.8696