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 AKNAD1 0 genome.wustl.edu 37 1 109395133 109395133 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 109395133 109395133 C G SNP AKNAD1 ENST00000370001 human ensembl 74_37 -1 known missense c.154 p.D52H 0.002 NULL pfam_TF_AT-hook - no_errors AKNAD1 HGNC ENSG00000162641 121 0 0 58 33 36.2637 C1orf127 0 genome.wustl.edu 37 1 11008300 11008300 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 11008300 11008300 C G SNP C1orf127 ENST00000377004 human ensembl 74_37 -1 known missense c.1892 p.G631A 0.003 NULL superfamily_DNA-bd_dom_put - no_errors C1orf127 HGNC ENSG00000175262 167 0 0 97 53 35.3333 SYT6 0 genome.wustl.edu 37 1 114641809 114641809 + Missense_Mutation SNP A A C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 114641809 114641809 A C SNP SYT6 ENST00000393296 human ensembl 74_37 -1 known missense c.1271 p.L424R 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom - no_errors SYT6 HGNC ENSG00000134207 145 0 0 79 41 34.1667 FBXO44 0 genome.wustl.edu 37 1 11721234 11721234 + Nonsense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 11721234 11721234 G A SNP FBXO44 ENST00000251547 human ensembl 74_37 +1 known nonsense c.672 p.W224* 1.000 pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom pfam_F-box-assoc_dom,pfam_F-box_dom,superfamily_Galactose-bd-like,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom,pfscan_F-box-assoc_dom - no_errors FBXO44 HGNC ENSG00000132879 166 0 0 38 108 73.9726 MRPL20 0 genome.wustl.edu 37 1 1341166 1341166 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 1341166 1341166 G A SNP MRPL20 ENST00000482352 human ensembl 74_37 -1 putative missense c.299 p.P100L 0.000 NULL pfam_Ribosomal_L20,prints_Ribosomal_L20 - no_errors MRPL20 HGNC ENSG00000242485 136 0 0 71 52 42.2764 PRUNE 0 genome.wustl.edu 37 1 151006687 151006687 + Missense_Mutation SNP A A C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 151006687 151006687 A C SNP PRUNE ENST00000271620 human ensembl 74_37 +1 known missense c.1339 p.T447P 0.003 NULL pfam_DHHA2,pfam_Pesterase_RecJ - no_errors PRUNE HGNC ENSG00000143363 173 0 0 142 50 26.0417 CDC42SE1 0 genome.wustl.edu 37 1 151026763 151026763 + Missense_Mutation SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 151026763 151026763 C A SNP CDC42SE1 ENST00000357235 human ensembl 74_37 -1 known missense c.200 p.G67V 1.000 NULL pfscan_CRIB_dom - no_errors CDC42SE1 HGNC ENSG00000197622 264 0 0 263 69 20.7831 RFX5 0 genome.wustl.edu 37 1 151314729 151314729 + Nonsense_Mutation SNP A A T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 151314729 151314729 A T SNP RFX5 ENST00000290524 human ensembl 74_37 -1 known nonsense c.1784 p.L595* 0.995 NULL pfam_DNA-bd_RFX - no_errors RFX5 HGNC ENSG00000143390 114 0 0 74 104 58.427 SNX27 0 genome.wustl.edu 37 1 151634671 151634671 + Silent SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 151634671 151634671 G C SNP SNX27 ENST00000368843 human ensembl 74_37 +1 known silent c.831 p.L277 1.000 pfam_Ras-assoc,pfscan_Ras-assoc pfam_Phox,pfam_PDZ,pfam_Ras-assoc,superfamily_Phox,superfamily_PDZ,smart_PDZ,smart_Phox,pfscan_PDZ,pfscan_Phox,pfscan_Ras-assoc - no_errors SNX27 HGNC ENSG00000143376 53 0 0 55 16 22.5352 TCHHL1 0 genome.wustl.edu 37 1 152059360 152059360 + Silent SNP T T C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 152059360 152059360 T C SNP TCHHL1 ENST00000368806 human ensembl 74_37 -1 known silent c.798 p.K266 0.038 NULL pfam_S100_Ca-bd_sub - no_errors TCHHL1 HGNC ENSG00000182898 200 0 0 178 79 30.7393 TCHH 0 genome.wustl.edu 37 1 152086500 152086500 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 152086500 152086500 G A SNP TCHH ENST00000368804 human ensembl 74_37 -1 known silent c.57 p.V19 0.789 pfam_S100_Ca-bd_sub pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 77 0 0 87 25 22.3214 KPRP 0 genome.wustl.edu 37 1 152733487 152733487 + Nonsense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 152733487 152733487 C T SNP KPRP ENST00000368773 human ensembl 74_37 +1 known nonsense c.1423 p.R475* 0.000 NULL NULL - no_errors KPRP HGNC ENSG00000203786 159 0 0 96 92 48.9362 LCE1D 0 genome.wustl.edu 37 1 152770589 152770589 + Missense_Mutation SNP A A G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 152770589 152770589 A G SNP LCE1D ENST00000326233 human ensembl 74_37 +1 known missense c.319 p.S107G 0.000 NULL NULL - no_errors LCE1D HGNC ENSG00000172155 59 0 0 51 6 10.5263 RUSC1 0 genome.wustl.edu 37 1 155297948 155297948 + Missense_Mutation SNP T T C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 155297948 155297948 T C SNP RUSC1 ENST00000368352 human ensembl 74_37 +1 known missense c.2422 p.S808P 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 322 1 0.309598 373 23 5.80808 OR10K2 0 genome.wustl.edu 37 1 158390537 158390537 + Silent SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 158390537 158390537 G T SNP OR10K2 ENST00000314902 human ensembl 74_37 -1 known silent c.120 p.G40 0.010 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10K2 HGNC ENSG00000180708 129 0 0 68 90 56.962 OR6K2 0 genome.wustl.edu 37 1 158669861 158669861 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 158669861 158669861 G A SNP OR6K2 ENST00000359610 human ensembl 74_37 -1 known silent c.582 p.I194 0.072 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K2 HGNC ENSG00000196171 131 0 0 117 51 30.3571 MNDA 0 genome.wustl.edu 37 1 158813857 158813857 + Missense_Mutation SNP A A T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 158813857 158813857 A T SNP MNDA ENST00000368141 human ensembl 74_37 +1 known missense c.515 p.H172L 0.000 NULL pfam_HIN200/IF120x,pfam_DAPIN,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors MNDA HGNC ENSG00000163563 216 0 0 189 72 27.5862 LY9 0 genome.wustl.edu 37 1 160786398 160786398 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 160786398 160786398 C G SNP LY9 ENST00000263285 human ensembl 74_37 +1 known missense c.1087 p.P363A 0.592 pfscan_Ig-like_dom smart_Ig_sub,pfscan_Ig-like_dom - no_errors LY9 HGNC ENSG00000122224 18 0 0 8 6 42.8571 RGS4 0 genome.wustl.edu 37 1 163044202 163044202 + Missense_Mutation SNP T T C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 163044202 163044202 T C SNP RGS4 ENST00000421743 human ensembl 74_37 +1 known missense c.761 p.F254S 1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS4 HGNC ENSG00000117152 351 0 0 412 142 25.6318 PBX1 0 genome.wustl.edu 37 1 164815989 164815989 + RNA SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 164815989 164815989 C T SNP PBX1 ENST00000468104 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PBX1 HGNC ENSG00000185630 34 0 0 21 13 38.2353 POGK 0 genome.wustl.edu 37 1 166818400 166818400 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 166818400 166818400 G T SNP POGK ENST00000367875 human ensembl 74_37 +1 known missense c.584 p.G195V 0.985 pfam_Brinker_DNA-bd pfam_DDE_SF_endonuclease_CENPB-like,pfam_Brinker_DNA-bd,pfam_HTH_CenpB_DNA-bd_dom,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Homeodomain-like,smart_Krueppel-associated_box,smart_HTH_CenpB_DNA-bd_dom,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors POGK HGNC ENSG00000143157 81 0 0 62 16 20.5128 NECAP2 0 genome.wustl.edu 37 1 16775642 16775642 + Silent SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 16775642 16775642 C A SNP NECAP2 ENST00000443980 human ensembl 74_37 +1 known silent c.435 p.G145 0.992 pfam_NECAP-1 pfam_NECAP-1 - no_errors NECAP2 HGNC ENSG00000157191 42 0 0 7 10 58.8235 SELP 0 genome.wustl.edu 37 1 169559386 169559386 + Nonstop_Mutation SNP T T G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 169559386 169559386 T G SNP SELP ENST00000263686 human ensembl 74_37 -1 known nonstop c.2493 p.*831Y 0.993 NULL pfam_Sushi_SCR_CCP,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELP HGNC ENSG00000174175 70 0 0 82 28 25.4545 SELP 0 genome.wustl.edu 37 1 169559420 169559420 + Missense_Mutation SNP A A C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 169559420 169559420 A C SNP SELP ENST00000263686 human ensembl 74_37 -1 known missense c.2459 p.V820G 1.000 NULL pfam_Sushi_SCR_CCP,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELP HGNC ENSG00000174175 86 0 0 93 34 26.7717 NADK 0 genome.wustl.edu 37 1 1696699 1696699 + Silent SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 1696699 1696699 G C SNP NADK ENST00000344463 human ensembl 74_37 -1 known silent c.147 p.A49 0.985 NULL pfam_PolyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ - no_errors NADK HGNC ENSG00000008130 129 0 0 68 22 24.4444 PRRC2C 0 genome.wustl.edu 37 1 171484978 171484978 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 171484978 171484978 G A SNP PRRC2C ENST00000392078 human ensembl 74_37 +1 known missense c.506 p.G169E 1.000 NULL pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 69 0 0 61 24 28.2353 LGR6 0 genome.wustl.edu 37 1 202287851 202287851 + Missense_Mutation SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 202287851 202287851 C A SNP LGR6 ENST00000367278 human ensembl 74_37 +1 known missense c.2420 p.A807D 0.995 pfam_GPCR_Rhodpsn pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn - no_errors LGR6 HGNC ENSG00000133067 161 0 0 91 57 38.5135 PLA2G2E 0 genome.wustl.edu 37 1 20249208 20249208 + Missense_Mutation SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 20249208 20249208 C A SNP PLA2G2E ENST00000375116 human ensembl 74_37 -1 known missense c.81 p.M27I 1.000 pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 - no_errors PLA2G2E HGNC ENSG00000188784 115 0 0 55 24 30.3797 DSTYK 0 genome.wustl.edu 37 1 205156872 205156872 + Missense_Mutation SNP A A C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 205156872 205156872 A C SNP DSTYK ENST00000367162 human ensembl 74_37 -1 known missense c.328 p.C110G 1.000 NULL 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 DSTYK HGNC ENSG00000133059 71 0 0 49 7 12.5 PINK1 0 genome.wustl.edu 37 1 20964478 20964478 + Silent SNP A A G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 20964478 20964478 A G SNP PINK1 ENST00000321556 human ensembl 74_37 +1 known silent c.531 p.T177 0.000 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 PINK1 HGNC ENSG00000158828 91 0 0 53 28 34.5679 DTL 0 genome.wustl.edu 37 1 212238293 212238293 + Silent SNP A A G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 212238293 212238293 A G SNP DTL ENST00000366991 human ensembl 74_37 +1 known silent c.561 p.G187 0.888 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DTL HGNC ENSG00000143476 90 0 0 54 25 31.6456 ADCK3 0 genome.wustl.edu 37 1 227174341 227174341 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 227174341 227174341 C G SNP ADCK3 ENST00000366777 human ensembl 74_37 +1 known missense c.1847 p.S616C 1.000 NULL pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK3 HGNC ENSG00000163050 127 0 0 114 8 6.55738 OBSCN 0 genome.wustl.edu 37 1 228487034 228487034 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 228487034 228487034 G A SNP OBSCN ENST00000366707 human ensembl 74_37 +1 known missense c.3355 p.E1119K 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_DH-domain,pfam_Fibronectin_type3,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 90 0 0 41 9 18 PCNXL2 0 genome.wustl.edu 37 1 233136182 233136182 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 233136182 233136182 G T SNP PCNXL2 ENST00000258229 human ensembl 74_37 -1 known missense c.5197 p.P1733T 1.000 pfam_Pecanex,superfamily_Trypsin-like_Pept_dom pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 82 0 0 42 19 31.1475 MTR 0 genome.wustl.edu 37 1 237026804 237026804 + Silent SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 237026804 237026804 C T SNP MTR ENST00000366577 human ensembl 74_37 +1 known silent c.2355 p.H785 0.111 pfam_Cobalamin-bd,superfamily_Cobalamin-bd,pirsf_MetH,tigrfam_MetH pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 64 0 0 33 24 42.1053 C1orf100 0 genome.wustl.edu 37 1 244541857 244541857 + Missense_Mutation SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 244541857 244541857 C A SNP C1orf100 ENST00000308105 human ensembl 74_37 +1 known missense c.241 p.L81I 0.008 NULL NULL - no_errors C1orf100 HGNC ENSG00000173728 93 0 0 46 35 43.2099 CNST 0 genome.wustl.edu 37 1 246754949 246754949 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 246754949 246754949 G A SNP CNST ENST00000366513 human ensembl 74_37 +1 known missense c.85 p.V29M 0.001 NULL NULL - no_errors CNST HGNC ENSG00000162852 98 0 0 67 33 33 NLRP3 0 genome.wustl.edu 37 1 247599290 247599290 + Silent SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 247599290 247599290 C A SNP NLRP3 ENST00000336119 human ensembl 74_37 +1 known silent c.2517 p.L839 1.000 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 NLRP3 HGNC ENSG00000162711 83 0 0 52 37 41.573 ARID1A 0 genome.wustl.edu 37 1 27100321 27100321 + Missense_Mutation SNP A A T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 27100321 27100321 A T SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known missense c.4033 p.T1345S 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 333 0 0 76 28 26.9231 LAPTM5 0 genome.wustl.edu 37 1 31214496 31214496 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 31214496 31214496 G A SNP LAPTM5 ENST00000294507 human ensembl 74_37 -1 known silent c.249 p.G83 0.342 pfam_LAPTM4/5,tigrfam_LAPTM_4A/5 pfam_LAPTM4/5,tigrfam_LAPTM_4A/5 - no_errors LAPTM5 HGNC ENSG00000162511 20 0 0 4 4 50 CSMD2 0 genome.wustl.edu 37 1 34238273 34238273 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 34238273 34238273 G A SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known silent c.1743 p.D581 0.992 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 CSMD2 HGNC ENSG00000121904 126 0 0 19 76 80 CSF3R 0 genome.wustl.edu 37 1 36938265 36938265 + Silent SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 36938265 36938265 C T SNP CSF3R ENST00000373103 human ensembl 74_37 -1 known silent c.696 p.L232 0.643 superfamily_Fibronectin_type3 pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF3R HGNC ENSG00000119535 30 0 0 17 4 19.0476 EPHA10 0 genome.wustl.edu 37 1 38197083 38197083 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 38197083 38197083 C T SNP EPHA10 ENST00000427468 human ensembl 74_37 -1 known missense c.1663 p.A555T 0.999 pirsf_Tyr_kinase_ephrin_rcpt 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_SAM/pointed,superfamily_Fibronectin_type3,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 EPHA10 HGNC ENSG00000183317 122 0 0 51 86 62.7737 COL9A2 0 genome.wustl.edu 37 1 40768858 40768858 + Splice_Site SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 40768858 40768858 C G SNP COL9A2 ENST00000372748 human ensembl 74_37 -1 known splice_site c.1549-1 e29-1 1.000 - - - no_errors COL9A2 HGNC ENSG00000049089 17 0 0 30 7 18.9189 COL9A2 0 genome.wustl.edu 37 1 40770188 40770188 + Missense_Mutation SNP T T C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 40770188 40770188 T C SNP COL9A2 ENST00000372748 human ensembl 74_37 -1 known missense c.1175 p.E392G 1.000 NULL pfam_Collagen - no_errors COL9A2 HGNC ENSG00000049089 49 0 0 46 10 17.8571 C1orf87 0 genome.wustl.edu 37 1 60456444 60456444 + Silent SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 60456444 60456444 C T SNP C1orf87 ENST00000371201 human ensembl 74_37 -1 known silent c.1542 p.L514 0.999 NULL NULL - no_errors C1orf87 HGNC ENSG00000162598 357 0 0 78 110 58.5106 DNAJC6 0 genome.wustl.edu 37 1 65858259 65858259 + Silent SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 65858259 65858259 C A SNP DNAJC6 ENST00000371069 human ensembl 74_37 +1 known silent c.1614 p.P538 0.729 NULL pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_C2_dom,smart_DnaJ_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain - no_errors DNAJC6 HGNC ENSG00000116675 72 0 0 6 15 71.4286 PTGER3 0 genome.wustl.edu 37 1 71331501 71331501 + Missense_Mutation SNP T T A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 71331501 71331501 T A SNP PTGER3 ENST00000497146 human ensembl 74_37 -1 known missense c.1120 p.T374S 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srbc,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP3_rcpt,prints_Prostanoid_rcpt,prints_EP3_rcpt_2,prints_Prostglndn_DP_rcpt,prints_GPCR_Rhodpsn,prints_Thbox_rcpt - no_errors PTGER3 HGNC ENSG00000050628 69 0 0 5 14 73.6842 TYW3 0 genome.wustl.edu 37 1 75214441 75214441 + Missense_Mutation SNP A A G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 75214441 75214441 A G SNP TYW3 ENST00000370867 human ensembl 74_37 +1 known missense c.361 p.M121V 0.999 pfam_tRNA_yW-synthesising,superfamily_tRNA_yW-synthesising pfam_tRNA_yW-synthesising,superfamily_tRNA_yW-synthesising - no_errors TYW3 HGNC ENSG00000162623 66 0 0 28 5 15.1515 NDUFB8 0 genome.wustl.edu 37 10 102289218 102289218 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 10 102289218 102289218 G T SNP NDUFB8 ENST00000299166 human ensembl 74_37 -1 known missense c.131 p.T44N 1.000 pfam_NDUFB8,pirsf_NADH_UbQ_OxRdtase_b-cplx_su8 pfam_NDUFB8,pirsf_NADH_UbQ_OxRdtase_b-cplx_su8 - no_errors NDUFB8 HGNC ENSG00000166136 123 1 0.806452 50 67 57.265 PPRC1 0 genome.wustl.edu 37 10 103899167 103899167 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 10 103899167 103899167 G C SNP PPRC1 ENST00000278070 human ensembl 74_37 +1 known missense c.902 p.S301T 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPRC1 HGNC ENSG00000148840 104 0 0 86 33 27.7311 PSD 0 genome.wustl.edu 37 10 104165364 104165364 + RNA SNP T T G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 10 104165364 104165364 T G SNP PSD ENST00000473507 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PSD HGNC ENSG00000059915 10 0 0 5 5 50 SORCS3 0 genome.wustl.edu 37 10 107005390 107005390 + Missense_Mutation SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 10 107005390 107005390 C A SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known missense c.2959 p.L987I 1.000 superfamily_PKD_dom pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 91 0 0 109 13 10.6557 GPAM 0 genome.wustl.edu 37 10 113933596 113933596 + Nonsense_Mutation SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 10 113933596 113933596 C A SNP GPAM ENST00000348367 human ensembl 74_37 -1 known nonsense c.421 p.E141* 0.999 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors GPAM HGNC ENSG00000119927 81 0 0 73 31 29.8077 DOCK1 0 genome.wustl.edu 37 10 129237406 129237406 + Missense_Mutation SNP A A C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 10 129237406 129237406 A C SNP DOCK1 ENST00000280333 human ensembl 74_37 +1 known missense c.5113 p.K1705Q 1.000 NULL pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC ENSG00000150760 17 0 0 16 5 23.8095 NEBL 0 genome.wustl.edu 37 10 21101759 21101759 + Silent SNP A A C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 10 21101759 21101759 A C SNP NEBL ENST00000377122 human ensembl 74_37 -1 known silent c.2457 p.A819 0.079 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors NEBL HGNC ENSG00000078114 79 0 0 53 5 8.62069 YME1L1 0 genome.wustl.edu 37 10 27412510 27412510 + Silent SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 10 27412510 27412510 C G SNP YME1L1 ENST00000326799 human ensembl 74_37 -1 known silent c.1239 p.V413 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH pfam_Peptidase_M41,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH - no_errors YME1L1 HGNC ENSG00000136758 202 0 0 119 56 32 GPRIN2 0 genome.wustl.edu 37 10 46999887 46999887 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 10 46999887 46999887 G T SNP GPRIN2 ENST00000374314 human ensembl 74_37 +1 known missense c.1007 p.G336V 0.944 NULL NULL - no_errors GPRIN2 HGNC ENSG00000204175 116 1 0.854701 75 17 18.4783 OGDHL 0 genome.wustl.edu 37 10 50948874 50948874 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 10 50948874 50948874 G T SNP OGDHL ENST00000374103 human ensembl 74_37 -1 known missense c.2022 p.H674Q 1.000 pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDHL HGNC ENSG00000197444 101 0 0 57 27 32.1429 ENSG00000272599 0 genome.wustl.edu 37 10 74885141 74885141 + RNA SNP A A T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 10 74885141 74885141 A T SNP ENSG00000272599 ENST00000608444 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-152N13.16 Clone_based_vega_gene ENSG00000272599 37 0 0 4 10 71.4286 USP28 0 genome.wustl.edu 37 11 113704991 113704991 + Nonsense_Mutation SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 11 113704991 113704991 C A SNP USP28 ENST00000003302 human ensembl 74_37 -1 known nonsense c.601 p.E201* 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,superfamily_UBA-like,pfscan_Peptidase_C19/C67 - no_errors USP28 HGNC ENSG00000048028 62 0 0 20 19 48.7179 DSCAML1 0 genome.wustl.edu 37 11 117335803 117335803 + Silent SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 11 117335803 117335803 C A SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known silent c.3300 p.V1100 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 142 0 0 38 38 50 TRAPPC4 0 genome.wustl.edu 37 11 118889967 118889967 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 11 118889967 118889967 G T SNP TRAPPC4 ENST00000533632 human ensembl 74_37 +1 known missense c.290 p.R97L 1.000 pfam_Sybindin,superfamily_Longin-like_dom pfam_Sybindin,pfam_Sedlin,superfamily_Longin-like_dom - no_errors TRAPPC4 HGNC ENSG00000196655 105 0 0 23 38 62.2951 MUC5AC 0 genome.wustl.edu 37 11 1212865 1212865 + RNA SNP T T C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 11 1212865 1212865 T C SNP MUC5AC ENST00000358378 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors MUC5AC HGNC ENSG00000215182 73 0 0 44 5 10.2041 C11orf63 0 genome.wustl.edu 37 11 122775027 122775027 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 11 122775027 122775027 C T SNP C11orf63 ENST00000227349 human ensembl 74_37 +1 known missense c.739 p.R247W 0.375 NULL NULL - no_errors C11orf63 HGNC ENSG00000109944 211 0 0 109 8 6.83761 SNORD14C 0 genome.wustl.edu 37 11 122930073 122930073 + RNA SNP T T G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 11 122930073 122930073 T G SNP SNORD14C ENST00000365382 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SNORD14C HGNC ENSG00000202252 35 0 0 6 8 57.1429 FAM118B 0 genome.wustl.edu 37 11 126110710 126110710 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 11 126110710 126110710 C G SNP FAM118B ENST00000533050 human ensembl 74_37 +1 known missense c.110 p.T37S 0.997 NULL NULL - no_errors FAM118B HGNC ENSG00000197798 250 0 0 202 36 15.1261 OR7E14P 0 genome.wustl.edu 37 11 17073659 17073659 + RNA SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 11 17073659 17073659 G T SNP OR7E14P ENST00000530490 human ensembl 74_37 +1 known rna NULL NULL 0.440 - - - no_errors OR7E14P HGNC ENSG00000184669 35 0 0 14 12 46.1538 USH1C 0 genome.wustl.edu 37 11 17532027 17532027 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 11 17532027 17532027 C G SNP USH1C ENST00000005226 human ensembl 74_37 -1 known missense c.1455 p.K485N 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors USH1C HGNC ENSG00000006611 52 0 0 40 3 6.97674 OR51G2 0 genome.wustl.edu 37 11 4936194 4936194 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 11 4936194 4936194 C T SNP OR51G2 ENST00000322013 human ensembl 74_37 -1 known missense c.700 p.A234T 0.066 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 OR51G2 HGNC ENSG00000176893 93 0 0 52 5 8.77193 C11orf84 0 genome.wustl.edu 37 11 63585493 63585493 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 11 63585493 63585493 C G SNP C11orf84 ENST00000294244 human ensembl 74_37 +1 known missense c.344 p.P115R 0.936 NULL NULL - no_errors C11orf84 HGNC ENSG00000168005 72 0 0 55 35 38.8889 FAT3 0 genome.wustl.edu 37 11 92085453 92085453 + Missense_Mutation SNP A A T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 11 92085453 92085453 A T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.175 p.R59W 0.963 superfamily_Cadherin-like,pfscan_Cadherin 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 69 0 0 30 24 44.4444 SSH1 0 genome.wustl.edu 37 12 109182012 109182012 + Missense_Mutation SNP T T A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 12 109182012 109182012 T A SNP SSH1 ENST00000326495 human ensembl 74_37 -1 known missense c.2902 p.T968S 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH1 HGNC ENSG00000084112 311 0 0 209 98 31.9218 TCHP 0 genome.wustl.edu 37 12 110341905 110341905 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 12 110341905 110341905 G A SNP TCHP ENST00000312777 human ensembl 74_37 +1 known missense c.352 p.E118K 1.000 NULL NULL - no_errors TCHP HGNC ENSG00000139437 15 0 0 4 5 55.5556 IFT81 0 genome.wustl.edu 37 12 110566889 110566889 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 12 110566889 110566889 C G SNP IFT81 ENST00000242591 human ensembl 74_37 +1 known missense c.383 p.P128R 1.000 NULL NULL - no_errors IFT81 HGNC ENSG00000122970 48 0 0 48 7 12.7273 PTPN11 0 genome.wustl.edu 37 12 112892407 112892407 + Missense_Mutation SNP T T G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 12 112892407 112892407 T G SNP PTPN11 ENST00000351677 human ensembl 74_37 +1 known missense c.565 p.S189A 1.000 pfam_SH2,smart_SH2,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,prints_SH2 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2 - no_errors PTPN11 HGNC ENSG00000179295 61 0 0 53 5 8.62069 PTPN11 0 genome.wustl.edu 37 12 112892433 112892433 + Nonsense_Mutation SNP T T G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 12 112892433 112892433 T G SNP PTPN11 ENST00000351677 human ensembl 74_37 +1 known nonsense c.591 p.Y197* 1.000 pfam_SH2,smart_SH2,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,prints_SH2 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2 - no_errors PTPN11 HGNC ENSG00000179295 56 0 0 54 5 8.47458 PTPN11 0 genome.wustl.edu 37 12 112892458 112892458 + Silent SNP T T C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 12 112892458 112892458 T C SNP PTPN11 ENST00000351677 human ensembl 74_37 +1 known silent c.616 p.L206 0.000 pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2 - no_errors PTPN11 HGNC ENSG00000179295 58 0 0 48 5 9.43396 LINC00477 0 genome.wustl.edu 37 12 24736185 24736185 + RNA SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 12 24736185 24736185 G C SNP LINC00477 ENST00000483544 human ensembl 74_37 -1 known rna NULL NULL 0.465 - - - no_errors LINC00477 HGNC ENSG00000197503 21 0 0 4 3 42.8571 CACNB3 0 genome.wustl.edu 37 12 49221573 49221573 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 12 49221573 49221573 G C SNP CACNB3 ENST00000301050 human ensembl 74_37 +1 known missense c.1346 p.S449T 1.000 prints_VDCC_L_b3su pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,prints_VDCC_L_bsu,prints_VDCC_L_b3su - no_errors CACNB3 HGNC ENSG00000167535 104 0 0 56 30 34.8837 ASIC1 0 genome.wustl.edu 37 12 50471146 50471146 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 12 50471146 50471146 G A SNP ASIC1 ENST00000228468 human ensembl 74_37 +1 known missense c.709 p.D237N 1.000 pfam_Na+channel_ASC pfam_Na+channel_ASC,prints_Na+channel_ASC - no_errors ASIC1 HGNC ENSG00000110881 59 0 0 30 15 33.3333 CERS5 0 genome.wustl.edu 37 12 50560935 50560935 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 12 50560935 50560935 G C SNP CERS5 ENST00000317551 human ensembl 74_37 -1 known missense c.146 p.S49W 0.400 pirsf_Longevity_assurance_LAG1_LAC1 pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeobox_dom - no_errors CERS5 HGNC ENSG00000139624 31 0 0 9 8 47.0588 SCN8A 0 genome.wustl.edu 37 12 52200766 52200766 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 12 52200766 52200766 G A SNP SCN8A ENST00000354534 human ensembl 74_37 +1 known missense c.5496 p.M1832I 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 117 0 0 53 54 50.4673 HOXC9 0 genome.wustl.edu 37 12 54394041 54394041 + Silent SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 12 54394041 54394041 C T SNP HOXC9 ENST00000303450 human ensembl 74_37 +1 known silent c.69 p.L23 1.000 pfam_Hox9_activation_N,pirsf_Homeobox_Hox9 pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXC9 HGNC ENSG00000180806 105 0 0 54 29 34.9398 ENSG00000258260 0 genome.wustl.edu 37 12 56663790 56663790 + RNA SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 12 56663790 56663790 C G SNP ENSG00000258260 ENST00000546464 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-977G19.14 Clone_based_vega_gene ENSG00000258260 34 0 0 12 7 36.8421 PPP1R12A 0 genome.wustl.edu 37 12 80214680 80214680 + Missense_Mutation SNP T T G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 12 80214680 80214680 T G SNP PPP1R12A ENST00000261207 human ensembl 74_37 -1 known missense c.988 p.N330H 1.000 pirsf_Pase-1_reg_su_12A/B/C_euk pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12A HGNC ENSG00000058272 62 0 0 17 8 32 SACS 0 genome.wustl.edu 37 13 23912295 23912295 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 13 23912295 23912295 C T SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.5720 p.R1907Q 0.958 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 79 0 0 41 24 36.9231 POSTN 0 genome.wustl.edu 37 13 38154009 38154009 + Missense_Mutation SNP T T A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 13 38154009 38154009 T A SNP POSTN ENST00000379747 human ensembl 74_37 -1 known missense c.1649 p.E550V 0.111 pfam_FAS1_domain,superfamily_FAS1_domain,smart_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 76 0 0 33 56 62.9213 HTR2A 0 genome.wustl.edu 37 13 47409208 47409208 + Missense_Mutation SNP A A G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 13 47409208 47409208 A G SNP HTR2A ENST00000378688 human ensembl 74_37 -1 known missense c.1180 p.Y394H 0.999 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2A HGNC ENSG00000102468 85 0 0 105 14 11.7647 SLAIN1 0 genome.wustl.edu 37 13 78318553 78318553 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 13 78318553 78318553 G T SNP SLAIN1 ENST00000466548 human ensembl 74_37 +1 known missense c.836 p.R279L 1.000 NULL NULL - no_errors SLAIN1 HGNC ENSG00000139737 74 0 0 82 31 27.4336 SLITRK1 0 genome.wustl.edu 37 13 84454661 84454661 + Missense_Mutation SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 13 84454661 84454661 C A SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known missense c.982 p.G328C 0.527 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 105 0 0 88 43 32.8244 JAG2 0 genome.wustl.edu 37 14 105609319 105609319 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 14 105609319 105609319 G A SNP JAG2 ENST00000331782 human ensembl 74_37 -1 known missense c.3430 p.H1144Y 0.003 NULL pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom,pfscan_VWF_C - no_errors JAG2 HGNC ENSG00000184916 64 0 0 12 16 57.1429 TEP1 0 genome.wustl.edu 37 14 20845494 20845494 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 14 20845494 20845494 G T SNP TEP1 ENST00000262715 human ensembl 74_37 -1 known missense c.6033 p.F2011L 0.580 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 75 0 0 22 7 24.1379 OR5AU1 0 genome.wustl.edu 37 14 21623524 21623524 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 14 21623524 21623524 C T SNP OR5AU1 ENST00000304418 human ensembl 74_37 -1 known missense c.661 p.G221S 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AU1 HGNC ENSG00000169327 62 0 0 35 15 30 FOXG1 0 genome.wustl.edu 37 14 29237814 29237814 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 14 29237814 29237814 G A SNP FOXG1 ENST00000313071 human ensembl 74_37 +1 known silent c.1329 p.T443 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXG1 HGNC ENSG00000176165 95 0 0 50 30 37.5 HEATR5A 0 genome.wustl.edu 37 14 31819924 31819924 + Splice_Site SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 14 31819924 31819924 C A SNP HEATR5A ENST00000389961 human ensembl 74_37 -1 known splice_site c.2394-1 e16-1 1.000 - - - no_errors HEATR5A HGNC ENSG00000129493 11 0 0 2 4 66.6667 MIPOL1 0 genome.wustl.edu 37 14 37754628 37754628 + Missense_Mutation SNP A A G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 14 37754628 37754628 A G SNP MIPOL1 ENST00000327441 human ensembl 74_37 +1 known missense c.599 p.K200R 0.015 NULL NULL - no_errors MIPOL1 HGNC ENSG00000151338 101 0 0 70 33 32.0388 C14orf166 0 genome.wustl.edu 37 14 52471144 52471144 + Silent SNP A A G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 14 52471144 52471144 A G SNP C14orf166 ENST00000261700 human ensembl 74_37 +1 known silent c.645 p.L215 1.000 pfam_UPF0568 pfam_UPF0568 - no_errors C14orf166 HGNC ENSG00000087302 77 0 0 37 19 33.9286 KIAA0586 0 genome.wustl.edu 37 14 58953857 58953857 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 14 58953857 58953857 C T SNP KIAA0586 ENST00000556134 human ensembl 74_37 +1 known missense c.3232 p.P1078S 0.010 NULL NULL - no_errors KIAA0586 HGNC ENSG00000100578 70 0 0 41 15 26.7857 ZBTB1 0 genome.wustl.edu 37 14 64990077 64990077 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 14 64990077 64990077 C T SNP ZBTB1 ENST00000394712 human ensembl 74_37 +1 known missense c.1855 p.R619C 1.000 smart_Znf_C2H2-like,pfscan_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 ZBTB1 HGNC ENSG00000126804 153 0 0 94 36 27.6923 SPTB 0 genome.wustl.edu 37 14 65268106 65268106 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 14 65268106 65268106 G A SNP SPTB ENST00000389722 human ensembl 74_37 -1 known silent c.660 p.I220 0.349 pirsf_Spectrin_bsu,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTB HGNC ENSG00000070182 53 0 0 41 17 29.3103 TMED8 0 genome.wustl.edu 37 14 77809767 77809767 + Missense_Mutation SNP T T C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 14 77809767 77809767 T C SNP TMED8 ENST00000216468 human ensembl 74_37 -1 known missense c.514 p.K172E 1.000 pfscan_GOLD superfamily_GOLD,pfscan_GOLD - no_errors TMED8 HGNC ENSG00000100580 35 0 0 24 14 36.8421 SAMD15 0 genome.wustl.edu 37 14 77857387 77857387 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 14 77857387 77857387 G A SNP SAMD15 ENST00000216471 human ensembl 74_37 +1 known missense c.1825 p.E609K 1.000 superfamily_SAM/pointed pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD15 HGNC ENSG00000100583 81 0 0 64 25 28.0899 TTC7B 0 genome.wustl.edu 37 14 91044497 91044497 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 14 91044497 91044497 C G SNP TTC7B ENST00000357056 human ensembl 74_37 -1 known missense c.2314 p.E772Q 1.000 pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC7B HGNC ENSG00000165914 41 0 0 5 6 54.5455 OR4F15 0 genome.wustl.edu 37 15 102358635 102358635 + Silent SNP T T C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 15 102358635 102358635 T C SNP OR4F15 ENST00000332238 human ensembl 74_37 +1 known silent c.246 p.I82 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4F15 HGNC ENSG00000182854 168 0 0 77 179 69.9219 SNHG14 0 genome.wustl.edu 37 15 25322132 25322132 + RNA SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 15 25322132 25322132 G A SNP SNHG14 ENST00000383025 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors SNHG14 HGNC ENSG00000224078 51 0 0 18 15 45.4545 TRPM1 0 genome.wustl.edu 37 15 31339349 31339349 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 15 31339349 31339349 G A SNP TRPM1 ENST00000542188 human ensembl 74_37 -1 known missense c.1780 p.R594W 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 123 1 0.806452 57 41 41.8367 KATNBL1 0 genome.wustl.edu 37 15 34440952 34440952 + Splice_Site SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 15 34440952 34440952 C G SNP KATNBL1 ENST00000256544 human ensembl 74_37 -1 known splice_site c.439-1 e4-1 1.000 - - - no_errors KATNBL1 HGNC ENSG00000134152 40 0 0 26 18 40.9091 ACTC1 0 genome.wustl.edu 37 15 35082638 35082638 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 15 35082638 35082638 G C SNP ACTC1 ENST00000290378 human ensembl 74_37 -1 known missense c.1109 p.S370C 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTC1 HGNC ENSG00000159251 126 0 0 46 33 41.7722 FBN1 0 genome.wustl.edu 37 15 48797306 48797306 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 15 48797306 48797306 C G SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.1876 p.G626R 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 122 0 0 67 35 34.3137 CGNL1 0 genome.wustl.edu 37 15 57838432 57838432 + Silent SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 15 57838432 57838432 C T SNP CGNL1 ENST00000281282 human ensembl 74_37 +1 known silent c.3768 p.D1256 0.996 pfam_Myosin_tail pfam_Myosin_tail,prints_Tropomyosin - no_errors CGNL1 HGNC ENSG00000128849 19 0 0 5 3 37.5 TLN2 0 genome.wustl.edu 37 15 63040577 63040577 + Silent SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 15 63040577 63040577 C G SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known silent c.4053 p.L1351 1.000 superfamily_Vinculin/catenin pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN2 HGNC ENSG00000171914 149 0 0 67 37 35.5769 TPM1 0 genome.wustl.edu 37 15 63335135 63335135 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 15 63335135 63335135 G A SNP TPM1 ENST00000267996 human ensembl 74_37 +1 known missense c.107 p.S36N 1.000 NULL pfam_Tropomyosin,prints_Tropomyosin - no_errors TPM1 HGNC ENSG00000140416 21 0 0 6 8 57.1429 DPP8 0 genome.wustl.edu 37 15 65792991 65792991 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 15 65792991 65792991 C T SNP DPP8 ENST00000341861 human ensembl 74_37 -1 known missense c.547 p.G183S 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom - no_errors DPP8 HGNC ENSG00000074603 176 0 0 116 49 29.697 TBC1D21 0 genome.wustl.edu 37 15 74180816 74180816 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 15 74180816 74180816 G T SNP TBC1D21 ENST00000300504 human ensembl 74_37 +1 known missense c.940 p.A314S 0.003 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D21 HGNC ENSG00000167139 37 0 0 26 9 25.7143 CSPG4P13 0 genome.wustl.edu 37 15 78194530 78194530 + RNA SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 15 78194530 78194530 C A SNP CSPG4P13 ENST00000565545 human ensembl 74_37 +1 known rna NULL NULL 0.611 - - - no_errors CSPG4P13 HGNC ENSG00000260139 42 0 0 49 11 18.3333 MEX3B 0 genome.wustl.edu 37 15 82336071 82336071 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 15 82336071 82336071 G A SNP MEX3B ENST00000329713 human ensembl 74_37 -1 known silent c.1140 p.F380 0.999 NULL pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3B HGNC ENSG00000183496 57 0 0 37 17 31.4815 WHAMM 0 genome.wustl.edu 37 15 83499525 83499525 + Missense_Mutation SNP A A C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 15 83499525 83499525 A C SNP WHAMM ENST00000286760 human ensembl 74_37 +1 known missense c.1816 p.S606R 0.000 NULL superfamily_tRNA-bd_arm,pfscan_WH2_dom - no_errors WHAMM HGNC ENSG00000156232 47 0 0 37 12 24.4898 IGF1R 0 genome.wustl.edu 37 15 99500476 99500476 + Silent SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 15 99500476 99500476 C T SNP IGF1R ENST00000268035 human ensembl 74_37 +1 known silent c.3909 p.V1303 0.970 pirsf_Tyr_kinase_insulin-like_rcpt pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors IGF1R HGNC ENSG00000140443 48 0 0 64 11 14.6667 NOMO1 0 genome.wustl.edu 37 16 14960412 14960412 + Missense_Mutation SNP T T G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 16 14960412 14960412 T G SNP NOMO1 ENST00000287667 human ensembl 74_37 +1 known missense c.1670 p.I557R 0.959 superfamily_Carb-bd-like_fold pfam_DUF2012,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,superfamily_Collagen-bd_Cna_B-typ_dom - no_errors NOMO1 HGNC ENSG00000103512 163 0 0 79 45 36.2903 NOMO1 0 genome.wustl.edu 37 16 14960427 14960427 + Missense_Mutation SNP A A C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 16 14960427 14960427 A C SNP NOMO1 ENST00000287667 human ensembl 74_37 +1 known missense c.1685 p.E562A 1.000 superfamily_Carb-bd-like_fold pfam_DUF2012,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,superfamily_Collagen-bd_Cna_B-typ_dom - no_errors NOMO1 HGNC ENSG00000103512 165 0 0 92 44 32.3529 XYLT1 0 genome.wustl.edu 37 16 17252692 17252692 + Missense_Mutation SNP T T A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 16 17252692 17252692 T A SNP XYLT1 ENST00000261381 human ensembl 74_37 -1 known missense c.1364 p.N455I 1.000 pfam_Glyco_trans_14 pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT1 HGNC ENSG00000103489 103 0 0 52 29 35.8025 SEPT1 0 genome.wustl.edu 37 16 30393094 30393094 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 16 30393094 30393094 C G SNP SEPT1 ENST00000321367 human ensembl 74_37 -1 known missense c.433 p.D145H 1.000 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT1 HGNC ENSG00000180096 162 0 0 66 34 34 GPR114 0 genome.wustl.edu 37 16 57601783 57601783 + Silent SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 16 57601783 57601783 C A SNP GPR114 ENST00000340339 human ensembl 74_37 +1 known silent c.837 p.S279 0.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56 - no_errors GPR114 HGNC ENSG00000159618 38 0 0 5 2 28.5714 GPR97 0 genome.wustl.edu 37 16 57714457 57714457 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 16 57714457 57714457 G A SNP GPR97 ENST00000333493 human ensembl 74_37 +1 known missense c.809 p.R270H 0.142 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56 - no_errors GPR97 HGNC ENSG00000182885 67 0 0 15 15 50 CHTF18 0 genome.wustl.edu 37 16 841339 841339 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 16 841339 841339 G T SNP CHTF18 ENST00000317063 human ensembl 74_37 +1 known missense c.1658 p.G553V 1.000 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors CHTF18 HGNC ENSG00000127586 25 0 0 12 9 42.8571 KCNG4 0 genome.wustl.edu 37 16 84270991 84270991 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 16 84270991 84270991 G A SNP KCNG4 ENST00000308251 human ensembl 74_37 -1 known missense c.101 p.P34L 0.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG4 HGNC ENSG00000168418 85 0 0 14 31 68.8889 ABAT 0 genome.wustl.edu 37 16 8870335 8870335 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 16 8870335 8870335 G A SNP ABAT ENST00000268251 human ensembl 74_37 +1 known silent c.1257 p.L419 1.000 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase,tigrfam_4NH2But_aminotransferase_euk pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase,tigrfam_4NH2But_aminotransferase_euk - no_errors ABAT HGNC ENSG00000183044 30 0 0 20 9 31.0345 GRIN2A 0 genome.wustl.edu 37 16 9862770 9862770 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 16 9862770 9862770 G C SNP GRIN2A ENST00000330684 human ensembl 74_37 -1 known missense c.2533 p.L845V 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 GRIN2A HGNC ENSG00000183454 152 1 0.653595 81 41 33.6066 RAI1 0 genome.wustl.edu 37 17 17698318 17698318 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 17 17698318 17698318 C G SNP RAI1 ENST00000353383 human ensembl 74_37 +1 known missense c.2056 p.L686V 0.881 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 121 0 0 47 28 37.3333 SMG6 0 genome.wustl.edu 37 17 2090057 2090057 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 17 2090057 2090057 G A SNP SMG6 ENST00000263073 human ensembl 74_37 -1 known silent c.3055 p.L1019 1.000 NULL pfam_EST1,smart_PIN_dom - no_errors SMG6 HGNC ENSG00000070366 57 0 0 51 43 45.7447 TBC1D29 0 genome.wustl.edu 37 17 28890301 28890301 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 17 28890301 28890301 G A SNP TBC1D29 ENST00000579181 human ensembl 74_37 +1 known missense c.311 p.S104N 0.904 NULL superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D29 HGNC ENSG00000266733 57 0 0 39 3 7.14286 RAD51D 0 genome.wustl.edu 37 17 33428247 33428247 + Missense_Mutation SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 17 33428247 33428247 C A SNP RAD51D ENST00000590016 human ensembl 74_37 -1 known missense c.936 p.M312I 0.000 superfamily_P-loop_NTPase pfam_DNA_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_DNA_recomb_RecA/RadB_ATP-bd - no_errors RAD51D HGNC ENSG00000185379 154 0 0 206 37 15.2263 SLFN12L 0 genome.wustl.edu 37 17 33806402 33806402 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 17 33806402 33806402 G T SNP SLFN12L ENST00000449046 human ensembl 74_37 -1 known missense c.920 p.T307N 0.000 pfam_ATPase_AAA-4 pfam_ATPase_AAA-4 - no_errors SLFN12L HGNC ENSG00000205045 17 0 0 18 4 18.1818 ENSG00000266956 0 genome.wustl.edu 37 17 34313725 34313725 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 17 34313725 34313725 G C SNP ENSG00000266956 ENST00000591669 human ensembl 74_37 +1 novel missense c.171 p.W57C 0.043 NULL NULL - no_errors CTB-186H2.3 Clone_based_vega_gene ENSG00000266956 30 0 0 40 8 16.6667 KRTAP4-2 0 genome.wustl.edu 37 17 39334306 39334306 + Silent SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 17 39334306 39334306 G T SNP KRTAP4-2 ENST00000377726 human ensembl 74_37 -1 known silent c.111 p.R37 0.097 NULL NULL - no_errors KRTAP4-2 HGNC ENSG00000244537 150 0 0 199 29 12.7193 GAST 0 genome.wustl.edu 37 17 39871710 39871710 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 17 39871710 39871710 G A SNP GAST ENST00000329402 human ensembl 74_37 +1 known missense c.22 p.V8M 0.000 pfam_Gastrin pfam_Gastrin,smart_Gastrin - no_errors GAST HGNC ENSG00000184502 412 0 0 739 159 17.706 KAT2A 0 genome.wustl.edu 37 17 40269797 40269797 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 17 40269797 40269797 C T SNP KAT2A ENST00000225916 human ensembl 74_37 -1 known missense c.1327 p.E443K 1.000 pirsf_Hist_acetylase_PCAF pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom,prints_Bromodomain - no_errors KAT2A HGNC ENSG00000108773 60 0 0 64 16 20 KAT2A 0 genome.wustl.edu 37 17 40272319 40272319 + Missense_Mutation SNP T T A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 17 40272319 40272319 T A SNP KAT2A ENST00000225916 human ensembl 74_37 -1 known missense c.533 p.D178V 1.000 pirsf_Hist_acetylase_PCAF,pfam_PCAF_N pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom,prints_Bromodomain - no_errors KAT2A HGNC ENSG00000108773 104 0 0 176 13 6.87831 BECN1 0 genome.wustl.edu 37 17 40966663 40966663 + Missense_Mutation SNP T T C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 17 40966663 40966663 T C SNP BECN1 ENST00000361523 human ensembl 74_37 -1 known missense c.859 p.N287D 1.000 pfam_Beclin_fam,superfamily_Translin pfam_Beclin_fam,superfamily_Translin - no_errors BECN1 HGNC ENSG00000126581 82 0 0 46 47 50.5376 GIP 0 genome.wustl.edu 37 17 47041686 47041686 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 17 47041686 47041686 C G SNP GIP ENST00000357424 human ensembl 74_37 -1 known missense c.243 p.K81N 1.000 NULL pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP - no_errors GIP HGNC ENSG00000159224 138 0 0 152 48 24 LUC7L3 0 genome.wustl.edu 37 17 48817692 48817692 + Missense_Mutation SNP A A G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 17 48817692 48817692 A G SNP LUC7L3 ENST00000508482 human ensembl 74_37 +1 known missense c.125 p.K42R 1.000 NULL NULL - no_errors LUC7L3 HGNC ENSG00000108848 36 0 0 22 33 60 MRC2 0 genome.wustl.edu 37 17 60765989 60765989 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 17 60765989 60765989 C G SNP MRC2 ENST00000446119 human ensembl 74_37 +1 putative missense c.26 p.P9R 1.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors MRC2 HGNC ENSG00000011028 126 0 0 83 62 42.7586 SCN4A 0 genome.wustl.edu 37 17 62049151 62049151 + Missense_Mutation SNP A A C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 17 62049151 62049151 A C SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known missense c.542 p.F181C 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 36 0 0 26 21 44.6809 SENP3 0 genome.wustl.edu 37 17 7468308 7468308 + Missense_Mutation SNP A A C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 17 7468308 7468308 A C SNP SENP3 ENST00000429205 human ensembl 74_37 +1 known missense c.988 p.S330R 1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP3 HGNC ENSG00000161956 49 0 0 22 19 46.3415 DNAH17 0 genome.wustl.edu 37 17 76503781 76503781 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 17 76503781 76503781 G A SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known missense c.4331 p.T1444M 0.998 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 39 0 0 7 17 70.8333 ENGASE 0 genome.wustl.edu 37 17 77077146 77077146 + Missense_Mutation SNP A A T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 17 77077146 77077146 A T SNP ENGASE ENST00000579016 human ensembl 74_37 +1 known missense c.863 p.Q288L 0.017 pfam_Glyco_hydro_85 pfam_Glyco_hydro_85,pfscan_BRCT_dom - no_errors ENGASE HGNC ENSG00000167280 26 0 0 2 7 77.7778 ALOX12B 0 genome.wustl.edu 37 17 7983200 7983200 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 17 7983200 7983200 C T SNP ALOX12B ENST00000319144 human ensembl 74_37 -1 known missense c.814 p.V272I 0.281 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_C,prints_LipOase_mml - no_errors ALOX12B HGNC ENSG00000179477 42 0 0 25 2 7.40741 CABYR 0 genome.wustl.edu 37 18 21736628 21736628 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 18 21736628 21736628 C G SNP CABYR ENST00000463087 human ensembl 74_37 +1 known missense c.1163 p.S388C 0.012 NULL pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b - no_errors CABYR HGNC ENSG00000154040 81 0 0 45 27 37.5 PHLPP1 0 genome.wustl.edu 37 18 60646462 60646462 + Missense_Mutation SNP A A G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 18 60646462 60646462 A G SNP PHLPP1 ENST00000262719 human ensembl 74_37 +1 known missense c.4952 p.Y1651C 1.000 NULL pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom,pfscan_Pleckstrin_homology - no_errors PHLPP1 HGNC ENSG00000081913 11 0 0 4 8 66.6667 GALR1 0 genome.wustl.edu 37 18 74962768 74962768 + Silent SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 18 74962768 74962768 C T SNP GALR1 ENST00000299727 human ensembl 74_37 +1 known silent c.264 p.C88 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Galanin_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GAL1_rcpt,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_NPY_rcpt - no_errors GALR1 HGNC ENSG00000166573 171 0 0 96 48 33.3333 SBNO2 0 genome.wustl.edu 37 19 1109765 1109765 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 19 1109765 1109765 C T SNP SBNO2 ENST00000361757 human ensembl 74_37 -1 known missense c.3040 p.G1014S 0.507 NULL superfamily_P-loop_NTPase - no_errors SBNO2 HGNC ENSG00000064932 41 0 0 37 6 13.9535 ACP5 0 genome.wustl.edu 37 19 11687884 11687884 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 19 11687884 11687884 G A SNP ACP5 ENST00000218758 human ensembl 74_37 -1 known silent c.249 p.D83 1.000 pfam_PEstase_dom pfam_PEstase_dom - no_errors ACP5 HGNC ENSG00000102575 94 0 0 51 31 37.8049 STK11 0 genome.wustl.edu 37 19 1219322 1219322 + Splice_Site SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 19 1219322 1219322 C G SNP STK11 ENST00000326873 human ensembl 74_37 +1 known splice_site c.375-1 e3-1 1.000 - - - no_errors STK11 HGNC ENSG00000118046 12 0 0 6 3 33.3333 KLF1 0 genome.wustl.edu 37 19 12996891 12996891 + Silent SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 19 12996891 12996891 G T SNP KLF1 ENST00000264834 human ensembl 74_37 -1 known silent c.153 p.L51 0.025 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF1 HGNC ENSG00000105610 25 0 0 25 14 35.8974 ENSG00000268032 0 genome.wustl.edu 37 19 18142889 18142889 + RNA SNP A A T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 19 18142889 18142889 A T SNP ENSG00000268032 ENST00000594957 human ensembl 74_37 +1 known rna NULL NULL 0.361 - - - no_errors CTB-52I2.4 Clone_based_vega_gene ENSG00000268032 36 0 0 28 13 31.7073 RAB3A 0 genome.wustl.edu 37 19 18311163 18311163 + Silent SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 19 18311163 18311163 C T SNP RAB3A ENST00000222256 human ensembl 74_37 -1 known silent c.321 p.E107 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB3A HGNC ENSG00000105649 109 0 0 60 44 42.3077 GRAMD1A 0 genome.wustl.edu 37 19 35510135 35510135 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 19 35510135 35510135 C G SNP GRAMD1A ENST00000317991 human ensembl 74_37 +1 known missense c.1254 p.H418Q 1.000 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1A HGNC ENSG00000089351 73 0 0 42 28 40 ARHGAP33 0 genome.wustl.edu 37 19 36273737 36273737 + Missense_Mutation SNP A A C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 19 36273737 36273737 A C SNP ARHGAP33 ENST00000007510 human ensembl 74_37 +1 known missense c.1387 p.N463H 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP33 HGNC ENSG00000004777 35 0 0 15 5 25 ACTN4 0 genome.wustl.edu 37 19 39207941 39207941 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 19 39207941 39207941 G A SNP ACTN4 ENST00000252699 human ensembl 74_37 +1 known silent c.1128 p.E376 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN4 HGNC ENSG00000130402 28 0 0 18 18 50 SPTBN4 0 genome.wustl.edu 37 19 41009957 41009957 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 19 41009957 41009957 G A SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known missense c.1583 p.R528Q 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 89 0 0 81 12 12.9032 LTBP4 0 genome.wustl.edu 37 19 41115559 41115559 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 19 41115559 41115559 G C SNP LTBP4 ENST00000308370 human ensembl 74_37 +1 known missense c.1751 p.R584P 1.000 smart_EG-like_dom,smart_EGF-like_Ca-bd_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP4 HGNC ENSG00000090006 66 0 0 28 19 40.4255 C19orf54 0 genome.wustl.edu 37 19 41250031 41250031 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 19 41250031 41250031 G A SNP C19orf54 ENST00000378313 human ensembl 74_37 -1 known silent c.588 p.G196 0.001 NULL NULL - no_errors C19orf54 HGNC ENSG00000188493 44 0 0 27 2 6.89655 GRIK5 0 genome.wustl.edu 37 19 42510076 42510076 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 19 42510076 42510076 G A SNP GRIK5 ENST00000301218 human ensembl 74_37 -1 known missense c.2062 p.R688C 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt 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 GRIK5 HGNC ENSG00000105737 11 0 0 8 5 38.4615 GSK3A 0 genome.wustl.edu 37 19 42736796 42736796 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 19 42736796 42736796 G A SNP GSK3A ENST00000222330 human ensembl 74_37 -1 known silent c.1137 p.L379 0.999 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 GSK3A HGNC ENSG00000105723 78 0 0 35 16 31.3725 IRGC 0 genome.wustl.edu 37 19 44223739 44223739 + Silent SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 19 44223739 44223739 C G SNP IRGC ENST00000244314 human ensembl 74_37 +1 known silent c.1029 p.V343 0.019 pfam_Interferon-induced_GTPase pfam_Interferon-induced_GTPase,superfamily_P-loop_NTPase - no_errors IRGC HGNC ENSG00000124449 50 0 0 29 14 32.5581 ZNF230 0 genome.wustl.edu 37 19 44514462 44514462 + Missense_Mutation SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 19 44514462 44514462 C A SNP ZNF230 ENST00000429154 human ensembl 74_37 +1 known missense c.271 p.P91T 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF230 HGNC ENSG00000159882 56 0 0 34 12 26.087 ZNF233 0 genome.wustl.edu 37 19 44778486 44778486 + Missense_Mutation SNP A A G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 19 44778486 44778486 A G SNP ZNF233 ENST00000391958 human ensembl 74_37 +1 known missense c.1673 p.H558R 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF233 HGNC ENSG00000159915 95 0 0 40 25 38.4615 ZNF296 0 genome.wustl.edu 37 19 45574995 45574995 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 19 45574995 45574995 C T SNP ZNF296 ENST00000303809 human ensembl 74_37 -1 known missense c.1292 p.R431H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF296 HGNC ENSG00000170684 121 0 0 61 34 35.7895 PPM1N 0 genome.wustl.edu 37 19 46002514 46002514 + Missense_Mutation SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 19 46002514 46002514 C A SNP PPM1N ENST00000451287 human ensembl 74_37 +1 known missense c.784 p.R262S 0.904 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,pfam_PP2C_C,superfamily_PP2C-like_dom,superfamily_PP2C_C,smart_PP2C-like_dom - no_errors PPM1N HGNC ENSG00000213889 67 0 0 61 8 11.5942 CCDC9 0 genome.wustl.edu 37 19 47774720 47774720 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 19 47774720 47774720 C T SNP CCDC9 ENST00000221922 human ensembl 74_37 +1 known missense c.1381 p.P461S 0.066 NULL NULL - no_errors CCDC9 HGNC ENSG00000105321 88 0 0 69 8 10.3896 EHD2 0 genome.wustl.edu 37 19 48244185 48244185 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 19 48244185 48244185 G A SNP EHD2 ENST00000263277 human ensembl 74_37 +1 known silent c.1128 p.P376 0.746 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD2 HGNC ENSG00000024422 63 0 0 42 21 33.3333 MYH14 0 genome.wustl.edu 37 19 50779398 50779398 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 19 50779398 50779398 G A SNP MYH14 ENST00000262269 human ensembl 74_37 +1 known silent c.3618 p.L1206 0.998 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 12 0 0 5 2 28.5714 SIGLEC5 0 genome.wustl.edu 37 19 52149659 52149659 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 19 52149659 52149659 C T SNP SIGLEC5 ENST00000222107 human ensembl 74_37 -1 known missense c.272 p.R91H 0.001 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC5 HGNC ENSG00000105501 52 0 0 18 7 28 PTPRS 0 genome.wustl.edu 37 19 5218806 5218806 + Missense_Mutation SNP T T G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 19 5218806 5218806 T G SNP PTPRS ENST00000357368 human ensembl 74_37 -1 known missense c.3927 p.K1309N 0.994 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 110 0 0 46 18 28.125 ZNF677 0 genome.wustl.edu 37 19 53741187 53741187 + Missense_Mutation SNP A A G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 19 53741187 53741187 A G SNP ZNF677 ENST00000333952 human ensembl 74_37 -1 known missense c.793 p.C265R 0.644 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 ZNF677 HGNC ENSG00000197928 64 0 0 44 21 32.3077 PRKCG 0 genome.wustl.edu 37 19 54409676 54409676 + Nonsense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 19 54409676 54409676 C T SNP PRKCG ENST00000540413 human ensembl 74_37 +1 known nonsense c.1870 p.R624* 0.894 superfamily_Kinase-like_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,prints_DAG/PE-bd,prints_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors PRKCG HGNC ENSG00000126583 11 0 0 6 5 45.4545 TMEM190 0 genome.wustl.edu 37 19 55889085 55889085 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 19 55889085 55889085 C G SNP TMEM190 ENST00000291934 human ensembl 74_37 +1 known missense c.219 p.D73E 0.918 superfamily_P_trefoil superfamily_P_trefoil - no_errors TMEM190 HGNC ENSG00000160472 112 0 0 53 35 39.7727 NLRP4 0 genome.wustl.edu 37 19 56388502 56388502 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 19 56388502 56388502 C T SNP NLRP4 ENST00000301295 human ensembl 74_37 +1 known missense c.2666 p.T889M 0.000 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 NLRP4 HGNC ENSG00000160505 133 0 0 95 50 34.4828 ZSCAN4 0 genome.wustl.edu 37 19 58189625 58189625 + Silent SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 19 58189625 58189625 C T SNP ZSCAN4 ENST00000318203 human ensembl 74_37 +1 known silent c.654 p.S218 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN4 HGNC ENSG00000180532 57 0 0 39 23 37.0968 CCDC74B 0 genome.wustl.edu 37 2 130897829 130897829 + Nonsense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 2 130897829 130897829 G A SNP CCDC74B ENST00000392984 human ensembl 74_37 -1 known nonsense c.1105 p.R369* 0.997 NULL NULL - no_errors CCDC74B HGNC ENSG00000152076 164 0 0 97 65 40.1235 KCNJ3 0 genome.wustl.edu 37 2 155566194 155566194 + Missense_Mutation SNP A A C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 2 155566194 155566194 A C SNP KCNJ3 ENST00000295101 human ensembl 74_37 +1 known missense c.782 p.Q261P 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.1 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.1,prints_K_chnl_inward-rec_Kir - no_errors KCNJ3 HGNC ENSG00000162989 97 0 0 58 42 42 SCN3A 0 genome.wustl.edu 37 2 166026964 166026964 + Missense_Mutation SNP A A C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 2 166026964 166026964 A C SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known missense c.359 p.I120S 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 65 0 0 36 18 33.3333 G6PC2 0 genome.wustl.edu 37 2 169763222 169763222 + Missense_Mutation SNP T T A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 2 169763222 169763222 T A SNP G6PC2 ENST00000375363 human ensembl 74_37 +1 known missense c.489 p.S163R 1.000 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase - no_errors G6PC2 HGNC ENSG00000152254 132 0 0 105 52 33.121 HOXD3 0 genome.wustl.edu 37 2 177036786 177036786 + Silent SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 2 177036786 177036786 C T SNP HOXD3 ENST00000249440 human ensembl 74_37 +1 known silent c.1083 p.N361 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXD3 HGNC ENSG00000128652 31 0 0 20 9 31.0345 TTN 0 genome.wustl.edu 37 2 179470142 179470142 + Missense_Mutation SNP T T A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 2 179470142 179470142 T A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.46176 p.E15392D 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 53 0 0 27 18 40 TTN 0 genome.wustl.edu 37 2 179471976 179471976 + Missense_Mutation SNP A A T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 2 179471976 179471976 A T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.45649 p.W15217R 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 92 0 0 52 18 25.7143 TTN 0 genome.wustl.edu 37 2 179631273 179631273 + Missense_Mutation SNP A A G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 2 179631273 179631273 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.9538 p.Y3180H 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub 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 93 0 0 71 5 6.57895 TTN 0 genome.wustl.edu 37 2 179635333 179635333 + Missense_Mutation SNP T T G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 2 179635333 179635333 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.8186 p.E2729A 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub 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 122 0 0 62 36 36.7347 TFPI 0 genome.wustl.edu 37 2 188343426 188343426 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 2 188343426 188343426 C G SNP TFPI ENST00000339091 human ensembl 74_37 -1 known missense c.733 p.D245H 0.006 NULL pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors TFPI HGNC ENSG00000003436 41 0 0 30 7 18.9189 UNC80 0 genome.wustl.edu 37 2 210641998 210641998 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 2 210641998 210641998 G T SNP UNC80 ENST00000439458 human ensembl 74_37 +1 known missense c.315 p.L105F 0.991 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 110 0 0 81 25 23.5849 LANCL1 0 genome.wustl.edu 37 2 211319933 211319933 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 2 211319933 211319933 C T SNP LANCL1 ENST00000233714 human ensembl 74_37 -1 known missense c.305 p.R102H 0.996 pfam_LANC-like,superfamily_6-hairpin_glycosidase-like pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk,prints_LANC-like - no_errors LANCL1 HGNC ENSG00000115365 114 0 0 68 30 30.6122 SPEG 0 genome.wustl.edu 37 2 220329224 220329224 + Silent SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 2 220329224 220329224 C T SNP SPEG ENST00000396695 human ensembl 74_37 +1 known silent c.399 p.C133 0.983 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 92 0 0 74 4 5.12821 SPEG 0 genome.wustl.edu 37 2 220353257 220353257 + Silent SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 2 220353257 220353257 C A SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel silent c.7896 p.I2632 0.632 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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 SPEG HGNC ENSG00000072195 134 0 0 73 44 37.6068 GIGYF2 0 genome.wustl.edu 37 2 233599885 233599885 + RNA SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 2 233599885 233599885 C G SNP GIGYF2 ENST00000463554 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GIGYF2 HGNC ENSG00000204120 38 0 0 12 16 57.1429 UGT1A4 0 genome.wustl.edu 37 2 234627873 234627873 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 2 234627873 234627873 C T SNP UGT1A4 ENST00000373409 human ensembl 74_37 +1 known missense c.407 p.A136V 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A4 HGNC ENSG00000244474 265 0 0 130 76 36.8932 IQCA1 0 genome.wustl.edu 37 2 237247012 237247012 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 2 237247012 237247012 C T SNP IQCA1 ENST00000409907 human ensembl 74_37 -1 known missense c.1970 p.R657H 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors IQCA1 HGNC ENSG00000132321 73 0 0 42 28 40 ASB1 0 genome.wustl.edu 37 2 239344628 239344628 + Silent SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 2 239344628 239344628 G T SNP ASB1 ENST00000264607 human ensembl 74_37 +1 known silent c.468 p.R156 0.939 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 ASB1 HGNC ENSG00000065802 40 0 0 16 22 57.8947 OTOF 0 genome.wustl.edu 37 2 26699838 26699838 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 2 26699838 26699838 G A SNP OTOF ENST00000272371 human ensembl 74_37 -1 known missense c.2597 p.P866L 1.000 pfam_Ferlin_B-domain pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 48 0 0 17 22 56.4103 KIAA1841 0 genome.wustl.edu 37 2 61310371 61310371 + Missense_Mutation SNP A A C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 2 61310371 61310371 A C SNP KIAA1841 ENST00000356719 human ensembl 74_37 +1 known missense c.812 p.N271T 1.000 pfam_DUF3342 pfam_DUF3342,superfamily_BTB/POZ_fold,superfamily_Homeodomain-like - no_errors KIAA1841 HGNC ENSG00000162929 63 0 0 53 14 20.8955 ZNF638 0 genome.wustl.edu 37 2 71653954 71653954 + Missense_Mutation SNP A A T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 2 71653954 71653954 A T SNP ZNF638 ENST00000264447 human ensembl 74_37 +1 known missense c.4955 p.D1652V 1.000 NULL pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors ZNF638 HGNC ENSG00000075292 92 0 0 77 28 26.6667 DYSF 0 genome.wustl.edu 37 2 71747335 71747335 + Missense_Mutation SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 2 71747335 71747335 C A SNP DYSF ENST00000413539 human ensembl 74_37 +1 known missense c.1027 p.P343T 1.000 pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 140 0 0 171 53 23.6607 DYSF 0 genome.wustl.edu 37 2 71883377 71883377 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 2 71883377 71883377 C T SNP DYSF ENST00000413539 human ensembl 74_37 +1 known missense c.4688 p.T1563M 1.000 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 430 0 0 368 102 21.7021 ALMS1 0 genome.wustl.edu 37 2 73784420 73784420 + Silent SNP A A C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 2 73784420 73784420 A C SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known silent c.10149 p.T3383 0.001 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 97 0 0 65 29 30.8511 TCF7L1 0 genome.wustl.edu 37 2 85536584 85536584 + Silent SNP A A G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 2 85536584 85536584 A G SNP TCF7L1 ENST00000282111 human ensembl 74_37 +1 known silent c.1766 p.*589 1.000 NULL pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TCF7L1 HGNC ENSG00000152284 69 0 0 46 27 36.9863 ASTL 0 genome.wustl.edu 37 2 96789646 96789646 + Silent SNP T T C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 2 96789646 96789646 T C SNP ASTL ENST00000342380 human ensembl 74_37 -1 known silent c.1239 p.P413 0.931 NULL pfam_Peptidase_M12A,smart_Peptidase_Metallo,prints_Peptidase_M12A - no_errors ASTL HGNC ENSG00000188886 104 0 0 60 45 42.8571 ESF1 0 genome.wustl.edu 37 20 13763319 13763319 + Missense_Mutation SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 20 13763319 13763319 C A SNP ESF1 ENST00000202816 human ensembl 74_37 -1 known missense c.468 p.K156N 0.016 NULL pfam_NUC153 - no_errors ESF1 HGNC ENSG00000089048 32 0 0 29 16 35.5556 TGM6 0 genome.wustl.edu 37 20 2384321 2384321 + Silent SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 20 2384321 2384321 C T SNP TGM6 ENST00000202625 human ensembl 74_37 +1 known silent c.1188 p.N396 0.888 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM6 HGNC ENSG00000166948 117 0 0 109 7 6.03448 CBFA2T2 0 genome.wustl.edu 37 20 32224501 32224501 + Silent SNP T T C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 20 32224501 32224501 T C SNP CBFA2T2 ENST00000346541 human ensembl 74_37 +1 known silent c.1311 p.F437 1.000 NULL pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTGR1 - no_errors CBFA2T2 HGNC ENSG00000078699 141 0 0 64 43 40.1869 RALGAPB 0 genome.wustl.edu 37 20 37174983 37174983 + Missense_Mutation SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 20 37174983 37174983 C A SNP RALGAPB ENST00000262879 human ensembl 74_37 +1 known missense c.2812 p.P938T 1.000 NULL superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPB HGNC ENSG00000170471 112 0 0 60 35 36.8421 PTPRT 0 genome.wustl.edu 37 20 40790084 40790084 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 20 40790084 40790084 G T SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.2647 p.Q883K 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 114 0 0 164 34 17.1717 CYP24A1 0 genome.wustl.edu 37 20 52774059 52774059 + Silent SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 20 52774059 52774059 C T SNP CYP24A1 ENST00000216862 human ensembl 74_37 -1 known silent c.1302 p.Q434 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_CYP24A_mit,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP24A1 HGNC ENSG00000019186 120 0 0 127 44 25.731 OPRL1 0 genome.wustl.edu 37 20 62724306 62724306 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 20 62724306 62724306 G T SNP OPRL1 ENST00000336866 human ensembl 74_37 +1 known missense c.233 p.R78M 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Opioid_rcpt,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_X_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt - no_errors OPRL1 HGNC ENSG00000125510 57 0 0 15 37 71.1538 IGHV1OR21-1 0 genome.wustl.edu 37 21 10863003 10863003 + Missense_Mutation SNP T T C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 21 10863003 10863003 T C SNP IGHV1OR21-1 ENST00000559480 human ensembl 74_37 +1 known missense c.299 p.M100T 1.000 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGHV1OR21-1 HGNC ENSG00000169861 616 0 0 439 70 13.7525 DOPEY2 0 genome.wustl.edu 37 21 37617880 37617880 + Missense_Mutation SNP A A T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 21 37617880 37617880 A T SNP DOPEY2 ENST00000399151 human ensembl 74_37 +1 known missense c.3602 p.E1201V 1.000 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 74 0 0 10 25 71.4286 PCNT 0 genome.wustl.edu 37 21 47786946 47786946 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 21 47786946 47786946 G A SNP PCNT ENST00000359568 human ensembl 74_37 +1 known silent c.3057 p.L1019 0.000 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 152 0 0 33 49 59.7561 OR11H1 0 genome.wustl.edu 37 22 16449739 16449739 + Silent SNP A A T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 22 16449739 16449739 A T SNP OR11H1 ENST00000252835 human ensembl 74_37 -1 known silent c.66 p.A22 0.568 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11H1 HGNC ENSG00000130538 15 0 0 15 6 28.5714 IL17RA 0 genome.wustl.edu 37 22 17577950 17577950 + Splice_Site SNP A A T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 22 17577950 17577950 A T SNP IL17RA ENST00000319363 human ensembl 74_37 +1 known splice_site c.139-2 e2-2 1.000 - - - no_errors IL17RA HGNC ENSG00000177663 104 0 0 58 32 35.5556 LZTR1 0 genome.wustl.edu 37 22 21333869 21333869 + RNA SNP T T A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 22 21333869 21333869 T A SNP LZTR1 ENST00000479606 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LZTR1 HGNC ENSG00000099949 123 0 0 83 35 29.661 RIMBP3B 0 genome.wustl.edu 37 22 21742851 21742851 + Silent SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 22 21742851 21742851 G T SNP RIMBP3B ENST00000434111 human ensembl 74_37 +1 known silent c.4704 p.L1568 0.467 superfamily_SH3_domain pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain - no_errors RIMBP3B HGNC ENSG00000196934 38 0 0 15 3 16.6667 APOL5 0 genome.wustl.edu 37 22 36123193 36123193 + Missense_Mutation SNP A A G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 22 36123193 36123193 A G SNP APOL5 ENST00000249044 human ensembl 74_37 +1 known missense c.1078 p.S360G 0.002 NULL pfam_ApoL - no_errors APOL5 HGNC ENSG00000128313 70 0 0 44 31 41.3333 APOL4 0 genome.wustl.edu 37 22 36600758 36600758 + RNA SNP A A T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 22 36600758 36600758 A T SNP APOL4 ENST00000479929 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors APOL4 HGNC ENSG00000100336 10 0 0 6 4 40 CYTH4 0 genome.wustl.edu 37 22 37690712 37690712 + Missense_Mutation SNP T T A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 22 37690712 37690712 T A SNP CYTH4 ENST00000248901 human ensembl 74_37 +1 known missense c.114 p.D38E 0.645 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors CYTH4 HGNC ENSG00000100055 99 0 0 54 42 43.75 MICALL1 0 genome.wustl.edu 37 22 38322052 38322052 + Splice_Site SNP T T C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 22 38322052 38322052 T C SNP MICALL1 ENST00000215957 human ensembl 74_37 +1 known splice_site c.1465+2 e8+2 1.000 - - - no_errors MICALL1 HGNC ENSG00000100139 34 0 0 25 8 24.2424 PHF21B 0 genome.wustl.edu 37 22 45312274 45312274 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 22 45312274 45312274 G A SNP PHF21B ENST00000313237 human ensembl 74_37 -1 known silent c.450 p.Y150 0.994 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21B HGNC ENSG00000056487 40 0 0 18 13 41.9355 GPR128 0 genome.wustl.edu 37 3 100362456 100362456 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 3 100362456 100362456 G A SNP GPR128 ENST00000273352 human ensembl 74_37 +1 known missense c.925 p.V309I 0.753 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR128 HGNC ENSG00000144820 67 0 0 40 26 39.3939 TRAT1 0 genome.wustl.edu 37 3 108557837 108557837 + RNA SNP A A C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 3 108557837 108557837 A C SNP TRAT1 ENST00000478830 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors TRAT1 HGNC ENSG00000163519 79 0 0 44 18 29.0323 ARHGAP31 0 genome.wustl.edu 37 3 119133205 119133205 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 3 119133205 119133205 C G SNP ARHGAP31 ENST00000264245 human ensembl 74_37 +1 known missense c.2429 p.S810C 0.001 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 101 0 0 46 22 32.3529 COL6A6 0 genome.wustl.edu 37 3 130279257 130279257 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 3 130279257 130279257 G C SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.49 p.V17L 0.340 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 64 0 0 33 16 32.6531 CEP70 0 genome.wustl.edu 37 3 138248274 138248274 + Missense_Mutation SNP T T G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 3 138248274 138248274 T G SNP CEP70 ENST00000264982 human ensembl 74_37 -1 known missense c.723 p.E241D 0.999 NULL pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CEP70 HGNC ENSG00000114107 104 0 0 57 39 40.625 FOXL2 0 genome.wustl.edu 37 3 138665218 138665218 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 3 138665218 138665218 G T SNP FOXL2 ENST00000330315 human ensembl 74_37 -1 known missense c.347 p.P116Q 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXL2 HGNC ENSG00000183770 73 0 0 37 26 41.2698 ATR 0 genome.wustl.edu 37 3 142188342 142188342 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 3 142188342 142188342 G C SNP ATR ENST00000350721 human ensembl 74_37 -1 known missense c.6389 p.T2130R 1.000 pfscan_PIK_FAT pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 91 0 0 51 34 40 GRIP2 0 genome.wustl.edu 37 3 14545116 14545116 + RNA SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 3 14545116 14545116 G A SNP GRIP2 ENST00000273083 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors GRIP2 HGNC ENSG00000144596 20 0 0 12 7 36.8421 AADACL2 0 genome.wustl.edu 37 3 151463297 151463297 + Missense_Mutation SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 3 151463297 151463297 C A SNP AADACL2 ENST00000356517 human ensembl 74_37 +1 known missense c.432 p.D144E 0.956 pfam_AB_hydrolase_3,pfam_CarbesteraseB,pfam_Steryl_acetyl_hydrolase,pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pfam_CarbesteraseB,pfam_Steryl_acetyl_hydrolase,pirsf_Arylacetamide_deacetylase - no_errors AADACL2 HGNC ENSG00000197953 230 0 0 153 64 29.4931 USP13 0 genome.wustl.edu 37 3 179459996 179459996 + Silent SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 3 179459996 179459996 C T SNP USP13 ENST00000263966 human ensembl 74_37 +1 known silent c.1392 p.I464 0.027 pfam_Peptidase_C19/C67,pirsf_Ubiquitinyl_hydrolase,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP13 HGNC ENSG00000058056 56 0 0 30 16 34.7826 VPS8 0 genome.wustl.edu 37 3 184573502 184573502 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 3 184573502 184573502 G T SNP VPS8 ENST00000287546 human ensembl 74_37 +1 known missense c.1039 p.D347Y 1.000 superfamily_Quinonprotein_ADH-like_supfam superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors VPS8 HGNC ENSG00000156931 142 0 0 68 62 47.6923 ATP13A5 0 genome.wustl.edu 37 3 193031864 193031864 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 3 193031864 193031864 G A SNP ATP13A5 ENST00000342358 human ensembl 74_37 -1 known silent c.2277 p.T759 0.998 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A5 HGNC ENSG00000187527 170 0 0 75 54 41.8605 TNK2 0 genome.wustl.edu 37 3 195594114 195594114 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 3 195594114 195594114 C T SNP TNK2 ENST00000333602 human ensembl 74_37 -1 known missense c.2908 p.V970M 1.000 superfamily_UBA-like pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TNK2 HGNC ENSG00000061938 68 0 0 53 7 11.6667 TGFBR2 0 genome.wustl.edu 37 3 30713543 30713543 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 3 30713543 30713543 G A SNP TGFBR2 ENST00000359013 human ensembl 74_37 +1 known missense c.943 p.E315K 1.000 pirsf_Transform_growth_fac-b_typ-2,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,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,prints_TGFB_receptor,pfscan_Prot_kinase_dom - no_errors TGFBR2 HGNC ENSG00000163513 119 0 0 27 43 61.4286 RBM5 0 genome.wustl.edu 37 3 50148182 50148182 + Silent SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 3 50148182 50148182 C G SNP RBM5 ENST00000347869 human ensembl 74_37 +1 known silent c.1434 p.L478 0.841 NULL pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM5 HGNC ENSG00000003756 54 0 0 44 4 8.33333 ITIH1 0 genome.wustl.edu 37 3 52813616 52813616 + Missense_Mutation SNP T T A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 3 52813616 52813616 T A SNP ITIH1 ENST00000480409 human ensembl 74_37 +1 known missense c.579 p.D193E 0.000 NULL pfam_VIT,smart_VIT - no_errors ITIH1 HGNC ENSG00000055957 79 0 0 25 25 50 ATXN7 0 genome.wustl.edu 37 3 63968005 63968005 + Missense_Mutation SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 3 63968005 63968005 C A SNP ATXN7 ENST00000398590 human ensembl 74_37 +1 known missense c.896 p.T299N 1.000 NULL pfam_SCA7_dom - no_errors ATXN7 HGNC ENSG00000163635 65 0 0 36 24 40 LMCD1 0 genome.wustl.edu 37 3 8590314 8590314 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 3 8590314 8590314 G A SNP LMCD1 ENST00000157600 human ensembl 74_37 +1 known missense c.448 p.A150T 0.995 pfam_PET_domain pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMCD1 HGNC ENSG00000071282 146 0 0 74 28 27.451 TTLL3 0 genome.wustl.edu 37 3 9859368 9859368 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 3 9859368 9859368 G C SNP TTLL3 ENST00000426895 human ensembl 74_37 +1 known missense c.784 p.D262H 1.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL3 HGNC ENSG00000214021 167 0 0 107 62 36.6864 IL17RE 0 genome.wustl.edu 37 3 9948410 9948410 + Missense_Mutation SNP T T A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 3 9948410 9948410 T A SNP IL17RE ENST00000383815 human ensembl 74_37 +1 known missense c.371 p.V124D 0.000 NULL NULL - no_errors IL17RE HGNC ENSG00000163701 160 0 0 87 55 38.7324 TNIP3 0 genome.wustl.edu 37 4 122053661 122053661 + RNA SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 4 122053661 122053661 C A SNP TNIP3 ENST00000511909 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TNIP3 HGNC ENSG00000050730 12 0 0 3 6 66.6667 ADAD1 0 genome.wustl.edu 37 4 123336756 123336756 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 4 123336756 123336756 G T SNP ADAD1 ENST00000296513 human ensembl 74_37 +1 known missense c.1472 p.G491V 1.000 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADAD1 HGNC ENSG00000164113 140 1 0.70922 75 39 34.2105 INTU 0 genome.wustl.edu 37 4 128632186 128632186 + Nonsense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 4 128632186 128632186 C T SNP INTU ENST00000335251 human ensembl 74_37 +1 known nonsense c.2488 p.Q830* 1.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors INTU HGNC ENSG00000164066 64 0 0 33 28 45.9016 HSPA4L 0 genome.wustl.edu 37 4 128725170 128725170 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 4 128725170 128725170 C G SNP HSPA4L ENST00000439123 human ensembl 74_37 +1 known missense c.1006 p.Q336E 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA4L HGNC ENSG00000164070 76 0 0 46 21 31.3433 BOD1L1 0 genome.wustl.edu 37 4 13606144 13606144 + Missense_Mutation SNP T T A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 4 13606144 13606144 T A SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known missense c.2380 p.R794W 0.977 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 12 0 0 18 10 35.7143 INPP4B 0 genome.wustl.edu 37 4 143191883 143191883 + Missense_Mutation SNP A A G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 4 143191883 143191883 A G SNP INPP4B ENST00000509777 human ensembl 74_37 -1 known missense c.548 p.V183A 0.857 NULL superfamily_C2_dom - no_errors INPP4B HGNC ENSG00000109452 125 0 0 32 42 56.7568 GABRB1 0 genome.wustl.edu 37 4 47427764 47427764 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 4 47427764 47427764 C G SNP GABRB1 ENST00000295454 human ensembl 74_37 +1 known missense c.1154 p.T385R 0.054 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB1 HGNC ENSG00000163288 110 0 0 68 30 30.6122 MIR1269A 0 genome.wustl.edu 37 4 67142636 67142636 + RNA SNP T T C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 4 67142636 67142636 T C SNP MIR1269A ENST00000408636 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors MIR1269A HGNC ENSG00000221563 53 0 0 18 8 30.7692 UGT2B4 0 genome.wustl.edu 37 4 70346533 70346533 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 4 70346533 70346533 C T SNP UGT2B4 ENST00000305107 human ensembl 74_37 -1 known missense c.1406 p.R469H 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B4 HGNC ENSG00000156096 180 0 0 120 60 33.3333 SULT1B1 0 genome.wustl.edu 37 4 70596360 70596360 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 4 70596360 70596360 C T SNP SULT1B1 ENST00000310613 human ensembl 74_37 -1 known missense c.637 p.E213K 0.982 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1B1 HGNC ENSG00000173597 40 0 0 23 18 43.9024 ARHGAP24 0 genome.wustl.edu 37 4 86491782 86491782 + Nonsense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 4 86491782 86491782 G T SNP ARHGAP24 ENST00000395184 human ensembl 74_37 +1 known nonsense c.88 p.G30* 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP24 HGNC ENSG00000138639 84 0 0 66 11 14.2857 HERC5 0 genome.wustl.edu 37 4 89385112 89385112 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 4 89385112 89385112 G A SNP HERC5 ENST00000264350 human ensembl 74_37 +1 known missense c.887 p.R296K 0.071 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_RCC1/BLIP-II,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC5 HGNC ENSG00000138646 81 0 0 56 38 40.4255 ST8SIA4 0 genome.wustl.edu 37 5 100191819 100191819 + Missense_Mutation SNP T T G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 5 100191819 100191819 T G SNP ST8SIA4 ENST00000231461 human ensembl 74_37 -1 known missense c.785 p.H262P 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA4 HGNC ENSG00000113532 78 0 0 36 3 7.69231 FER 0 genome.wustl.edu 37 5 108521949 108521949 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 5 108521949 108521949 G C SNP FER ENST00000281092 human ensembl 74_37 +1 known missense c.2252 p.W751S 1.000 pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors FER HGNC ENSG00000151422 183 0 0 34 61 64.2105 PDLIM4 0 genome.wustl.edu 37 5 131607543 131607543 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 5 131607543 131607543 G C SNP PDLIM4 ENST00000253754 human ensembl 74_37 +1 known missense c.730 p.A244P 0.025 NULL pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM4 HGNC ENSG00000131435 38 0 0 12 10 45.4545 CTNNA1 0 genome.wustl.edu 37 5 138269667 138269667 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 5 138269667 138269667 G A SNP CTNNA1 ENST00000302763 human ensembl 74_37 +1 known silent c.2610 p.V870 1.000 prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA1 HGNC ENSG00000044115 82 0 0 37 16 30.1887 CTNNA1 0 genome.wustl.edu 37 5 138269676 138269676 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 5 138269676 138269676 G C SNP CTNNA1 ENST00000302763 human ensembl 74_37 +1 known missense c.2619 p.E873D 1.000 prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA1 HGNC ENSG00000044115 80 0 0 36 19 34.5455 PCDHGA2 0 genome.wustl.edu 37 5 140719889 140719889 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 5 140719889 140719889 G A SNP PCDHGA2 ENST00000394576 human ensembl 74_37 +1 known missense c.1351 p.A451T 0.000 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 122 0 0 46 35 43.2099 SH3RF2 0 genome.wustl.edu 37 5 145439568 145439568 + Silent SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 5 145439568 145439568 C T SNP SH3RF2 ENST00000359120 human ensembl 74_37 +1 known silent c.1695 p.A565 0.000 NULL pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_SH3_domain - no_errors SH3RF2 HGNC ENSG00000156463 95 0 0 68 28 29.1667 CSNK1A1 0 genome.wustl.edu 37 5 148885058 148885058 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 5 148885058 148885058 G C SNP CSNK1A1 ENST00000515768 human ensembl 74_37 -1 known missense c.1042 p.Q348E 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors CSNK1A1 HGNC ENSG00000113712 107 0 0 54 31 36.4706 NUDCD2 0 genome.wustl.edu 37 5 162880981 162880981 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 5 162880981 162880981 C G SNP NUDCD2 ENST00000302764 human ensembl 74_37 -1 known missense c.466 p.E156Q 1.000 NULL pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors NUDCD2 HGNC ENSG00000170584 60 0 0 66 26 28.2609 TMED9 0 genome.wustl.edu 37 5 177022391 177022391 + Missense_Mutation SNP T T G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 5 177022391 177022391 T G SNP TMED9 ENST00000332598 human ensembl 74_37 +1 known missense c.682 p.F228V 1.000 pfam_GOLD pfam_GOLD,pfscan_GOLD - no_errors TMED9 HGNC ENSG00000184840 102 0 0 52 32 38.0952 CDH18 0 genome.wustl.edu 37 5 19721493 19721493 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 5 19721493 19721493 G A SNP CDH18 ENST00000274170 human ensembl 74_37 -1 known silent c.606 p.L202 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH18 HGNC ENSG00000145526 103 0 0 66 50 43.1034 GOLPH3 0 genome.wustl.edu 37 5 32135789 32135789 + Missense_Mutation SNP T T C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 5 32135789 32135789 T C SNP GOLPH3 ENST00000265070 human ensembl 74_37 -1 known missense c.361 p.I121V 1.000 pfam_GPP34 pfam_GPP34 - no_errors GOLPH3 HGNC ENSG00000113384 55 0 0 33 27 45 PRLR 0 genome.wustl.edu 37 5 35086401 35086401 + Missense_Mutation SNP A A G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 5 35086401 35086401 A G SNP PRLR ENST00000382002 human ensembl 74_37 -1 known missense c.112 p.S38P 1.000 pfam_Growth/epo_recpt_lig-bind,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 104 0 0 53 35 39.7727 ISL1 0 genome.wustl.edu 37 5 50687164 50687164 + Missense_Mutation SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 5 50687164 50687164 C A SNP ISL1 ENST00000230658 human ensembl 74_37 +1 known missense c.822 p.D274E 0.754 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors ISL1 HGNC ENSG00000016082 51 0 0 39 7 15.2174 TRAPPC13 0 genome.wustl.edu 37 5 64946672 64946672 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 5 64946672 64946672 G C SNP TRAPPC13 ENST00000545191 human ensembl 74_37 +1 known missense c.464 p.G155A 1.000 pfam_DUF974 pfam_DUF974 - no_errors TRAPPC13 HGNC ENSG00000113597 38 0 0 28 3 9.67742 MAP1B 0 genome.wustl.edu 37 5 71495728 71495728 + Silent SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 5 71495728 71495728 C T SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known silent c.6546 p.D2182 1.000 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 176 0 0 94 57 37.7483 SLC35F1 0 genome.wustl.edu 37 6 118556701 118556701 + Nonsense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 6 118556701 118556701 C T SNP SLC35F1 ENST00000360388 human ensembl 74_37 +1 known nonsense c.379 p.R127* 0.996 pfam_SLC35_F1/F2/F6,pfam_DMT pfam_SLC35_F1/F2/F6,pfam_DMT - no_errors SLC35F1 HGNC ENSG00000196376 73 0 0 47 16 25.3968 SAMD3 0 genome.wustl.edu 37 6 130465893 130465893 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 6 130465893 130465893 G C SNP SAMD3 ENST00000368134 human ensembl 74_37 -1 known missense c.1335 p.C445W 0.978 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD3 HGNC ENSG00000164483 60 0 0 95 13 12.037 TNFAIP3 0 genome.wustl.edu 37 6 138192409 138192409 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 6 138192409 138192409 G T SNP TNFAIP3 ENST00000237289 human ensembl 74_37 +1 known missense c.45 p.M15I 1.000 NULL pfam_Znf_A20,pfam_OTU,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors TNFAIP3 HGNC ENSG00000118503 107 0 0 121 26 17.6871 UTRN 0 genome.wustl.edu 37 6 144749929 144749929 + Missense_Mutation SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 6 144749929 144749929 C A SNP UTRN ENST00000367545 human ensembl 74_37 +1 known missense c.594 p.S198R 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pirsf_Dystrophin/utrophin,pfscan_CH-domain pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 39 0 0 40 12 23.0769 UTRN 0 genome.wustl.edu 37 6 144749936 144749936 + Missense_Mutation SNP A A G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 6 144749936 144749936 A G SNP UTRN ENST00000367545 human ensembl 74_37 +1 known missense c.601 p.K201E 0.962 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pirsf_Dystrophin/utrophin,pfscan_CH-domain pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 43 0 0 44 10 18.5185 AKAP12 0 genome.wustl.edu 37 6 151670624 151670624 + Silent SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 6 151670624 151670624 C T SNP AKAP12 ENST00000253332 human ensembl 74_37 +1 known silent c.1098 p.H366 0.000 NULL pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ENSG00000131016 108 0 0 116 53 31.3609 MAS1 0 genome.wustl.edu 37 6 160328818 160328818 + Silent SNP T T A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 6 160328818 160328818 T A SNP MAS1 ENST00000252660 human ensembl 74_37 +1 known silent c.831 p.P277 0.879 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Proto-oncogene_Mas,prints_GPCR_Rhodpsn - no_errors MAS1 HGNC ENSG00000130368 150 0 0 85 49 36.5672 ATXN1 0 genome.wustl.edu 37 6 16326666 16326666 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 6 16326666 16326666 C T SNP ATXN1 ENST00000244769 human ensembl 74_37 -1 known missense c.1876 p.V626M 0.995 pfam_Ataxin-1_HBP1,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1 HGNC ENSG00000124788 90 0 0 56 22 28.2051 T 0 genome.wustl.edu 37 6 166580155 166580155 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 6 166580155 166580155 G T SNP T ENST00000296946 human ensembl 74_37 -1 known missense c.396 p.F132L 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_Brachyury,prints_TF_T-box,pfscan_TF_T-box - no_errors T HGNC ENSG00000164458 107 0 0 67 33 33 SCAND3 0 genome.wustl.edu 37 6 28543077 28543077 + Missense_Mutation SNP T T A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 6 28543077 28543077 T A SNP SCAND3 ENST00000452236 human ensembl 74_37 -1 known missense c.1405 p.S469C 0.722 pfam_Integrase_cat-core,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 89 0 0 87 28 24.3478 ABCF1 0 genome.wustl.edu 37 6 30554043 30554043 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 6 30554043 30554043 G C SNP ABCF1 ENST00000326195 human ensembl 74_37 +1 known missense c.1846 p.D616H 0.032 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF1 HGNC ENSG00000204574 89 0 0 83 19 18.6275 DXO 0 genome.wustl.edu 37 6 31938570 31938570 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 6 31938570 31938570 C T SNP DXO ENST00000337523 human ensembl 74_37 -1 known missense c.625 p.E209K 1.000 NULL pfam_RAI1 - no_errors DXO HGNC ENSG00000204348 61 0 0 46 12 20.6897 BRPF3 0 genome.wustl.edu 37 6 36181868 36181868 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 6 36181868 36181868 G C SNP BRPF3 ENST00000357641 human ensembl 74_37 +1 known missense c.2694 p.L898F 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF3 HGNC ENSG00000096070 188 0 0 177 71 28.629 C6orf89 0 genome.wustl.edu 37 6 36882162 36882162 + Missense_Mutation SNP T T A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 6 36882162 36882162 T A SNP C6orf89 ENST00000355190 human ensembl 74_37 +1 known missense c.527 p.L176Q 0.013 NULL NULL - no_errors C6orf89 HGNC ENSG00000198663 120 0 0 102 14 12.069 RNF8 0 genome.wustl.edu 37 6 37336407 37336407 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 6 37336407 37336407 G C SNP RNF8 ENST00000373479 human ensembl 74_37 +1 known missense c.388 p.E130Q 1.000 superfamily_SMAD_FHA_domain,pirsf_E3_Ub_ligase_RNF8 pfam_FHA_dom,pfam_Znf_C3HC4_RING-type,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Znf_RING,pirsf_E3_Ub_ligase_RNF8,pfscan_FHA_dom,pfscan_Znf_RING - no_errors RNF8 HGNC ENSG00000112130 111 0 0 97 27 21.7742 DNAH8 0 genome.wustl.edu 37 6 38705010 38705010 + Missense_Mutation SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 6 38705010 38705010 C A SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.279 p.N93K 0.980 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 51 0 0 51 4 7.27273 C6orf223 0 genome.wustl.edu 37 6 43970920 43970920 + RNA SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 6 43970920 43970920 G T SNP C6orf223 ENST00000448947 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C6orf223 HGNC ENSG00000181577 14 0 0 3 5 62.5 C6orf223 0 genome.wustl.edu 37 6 43970921 43970921 + RNA SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 6 43970921 43970921 C T SNP C6orf223 ENST00000448947 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C6orf223 HGNC ENSG00000181577 14 0 0 3 4 57.1429 CD2AP 0 genome.wustl.edu 37 6 47575752 47575752 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 6 47575752 47575752 C G SNP CD2AP ENST00000359314 human ensembl 74_37 +1 known missense c.1620 p.C540W 0.267 NULL pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors CD2AP HGNC ENSG00000198087 57 0 0 38 24 38.7097 ANKRD6 0 genome.wustl.edu 37 6 90333683 90333683 + Silent SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 6 90333683 90333683 C T SNP ANKRD6 ENST00000339746 human ensembl 74_37 +1 known silent c.1125 p.N375 0.959 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 ANKRD6 HGNC ENSG00000135299 62 0 0 35 16 31.3725 LSMEM1 0 genome.wustl.edu 37 7 112126942 112126942 + RNA SNP A A G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 7 112126942 112126942 A G SNP LSMEM1 ENST00000471030 human ensembl 74_37 +1 putative rna NULL NULL 0.004 - - - no_errors LSMEM1 HGNC ENSG00000181016 59 0 0 32 23 41.8182 PTN 0 genome.wustl.edu 37 7 136939673 136939673 + Silent SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 7 136939673 136939673 G T SNP PTN ENST00000348225 human ensembl 74_37 -1 known silent c.48 p.A16 0.997 NULL pfam_PTN/MK_C_dom,pfam_PTN/MK_N_dom,superfamily_PTN/MK_diS,smart_Midkine_heparin-bd_GF,prints_Midkine_heparin-bd_GF - no_errors PTN HGNC ENSG00000105894 46 0 0 24 17 41.4634 TAS2R38 0 genome.wustl.edu 37 7 141673474 141673474 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 7 141673474 141673474 G C SNP TAS2R38 ENST00000547270 human ensembl 74_37 -1 known missense c.16 p.R6G 0.000 NULL pfam_TAS2_rcpt - no_errors TAS2R38 HGNC ENSG00000257138 119 0 0 80 41 33.8843 REPIN1 0 genome.wustl.edu 37 7 150068727 150068727 + Silent SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 7 150068727 150068727 C T SNP REPIN1 ENST00000489432 human ensembl 74_37 +1 known silent c.568 p.L190 0.026 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors REPIN1 HGNC ENSG00000214022 28 0 0 6 10 62.5 GALNTL5 0 genome.wustl.edu 37 7 151711795 151711795 + Missense_Mutation SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 7 151711795 151711795 C A SNP GALNTL5 ENST00000392800 human ensembl 74_37 +1 known missense c.1093 p.Q365K 0.000 NULL pfam_Glyco_trans_2 - no_errors GALNTL5 HGNC ENSG00000106648 106 0 0 61 25 29.0698 KMT2C 0 genome.wustl.edu 37 7 151845953 151845953 + Missense_Mutation SNP T T G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 7 151845953 151845953 T G SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.13230 p.R4410S 0.997 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 52 0 0 38 12 24 PTPRN2 0 genome.wustl.edu 37 7 157369463 157369463 + Silent SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 7 157369463 157369463 C A SNP PTPRN2 ENST00000404321 human ensembl 74_37 -1 known silent c.2694 p.L898 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,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 - no_errors PTPRN2 HGNC ENSG00000155093 16 0 0 9 4 30.7692 GPNMB 0 genome.wustl.edu 37 7 23309691 23309691 + Silent SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 7 23309691 23309691 G C SNP GPNMB ENST00000381990 human ensembl 74_37 +1 known silent c.1362 p.V454 0.990 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors GPNMB HGNC ENSG00000136235 134 0 0 97 36 27.0677 NOD1 0 genome.wustl.edu 37 7 30491602 30491602 + Silent SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 7 30491602 30491602 G C SNP NOD1 ENST00000222823 human ensembl 74_37 -1 known silent c.1431 p.V477 0.995 pfscan_NACHT_NTPase pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD1 HGNC ENSG00000106100 85 0 0 53 28 34.5679 SFRP4 0 genome.wustl.edu 37 7 37947099 37947099 + Silent SNP T T C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 7 37947099 37947099 T C SNP SFRP4 ENST00000436072 human ensembl 74_37 -1 known silent c.1023 p.T341 0.010 NULL pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors SFRP4 HGNC ENSG00000106483 172 0 0 95 62 39.4904 INHBA 0 genome.wustl.edu 37 7 41729775 41729775 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 7 41729775 41729775 C T SNP INHBA ENST00000242208 human ensembl 74_37 -1 known missense c.754 p.A252T 1.000 pfam_TGF-b_N,prints_Inhibin_betaA pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu - no_errors INHBA HGNC ENSG00000122641 60 0 0 20 13 39.3939 LOC100506895 0 genome.wustl.edu 37 7 43548495 43548495 + RNA SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 7 43548495 43548495 G C SNP LOC100506895 ENST00000436105 human ensembl 74_37 -1 known rna NULL NULL 0.751 - - - no_errors AC011738.4 Clone_based_vega_gene ENSG00000231638 108 0 0 70 46 39.6552 AUTS2 0 genome.wustl.edu 37 7 70227930 70227930 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 7 70227930 70227930 G T SNP AUTS2 ENST00000342771 human ensembl 74_37 +1 known missense c.817 p.G273C 1.000 NULL prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 241 1 0.413223 113 55 32.7381 AUTS2 0 genome.wustl.edu 37 7 70228154 70228154 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 7 70228154 70228154 G T SNP AUTS2 ENST00000342771 human ensembl 74_37 +1 known missense c.1041 p.E347D 0.996 NULL prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 64 0 0 29 31 51.6667 CYP51A1 0 genome.wustl.edu 37 7 91752481 91752481 + Nonsense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 7 91752481 91752481 G A SNP CYP51A1 ENST00000003100 human ensembl 74_37 -1 known nonsense c.1039 p.Q347* 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP51A1 HGNC ENSG00000001630 136 0 0 99 34 25.5639 TECPR1 0 genome.wustl.edu 37 7 97863002 97863002 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 7 97863002 97863002 C G SNP TECPR1 ENST00000379795 human ensembl 74_37 -1 known missense c.1403 p.R468T 0.000 NULL pfam_Beta-propeller_rpt_TECPR,superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin - no_errors TECPR1 HGNC ENSG00000205356 50 0 0 57 7 10.9375 LAMTOR4 0 genome.wustl.edu 37 7 99753485 99753485 + RNA SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 7 99753485 99753485 G C SNP LAMTOR4 ENST00000490633 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LAMTOR4 HGNC ENSG00000188186 39 0 0 28 12 30 GAL3ST4 0 genome.wustl.edu 37 7 99757827 99757827 + Silent SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 7 99757827 99757827 C T SNP GAL3ST4 ENST00000360039 human ensembl 74_37 -1 known silent c.1185 p.E395 0.606 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST4 HGNC ENSG00000197093 176 0 0 156 9 5.45455 FAM86B1 0 genome.wustl.edu 37 8 12043996 12043996 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 8 12043996 12043996 G C SNP FAM86B1 ENST00000448228 human ensembl 74_37 -1 known missense c.505 p.L169V 0.934 pfam_Nicotinamide_N-MeTfrase-like pfam_Nicotinamide_N-MeTfrase-like - no_errors FAM86B1 HGNC ENSG00000186523 90 0 0 67 6 8.21918 ZHX2 0 genome.wustl.edu 37 8 123966231 123966231 + Silent SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 8 123966231 123966231 C T SNP ZHX2 ENST00000314393 human ensembl 74_37 +1 known silent c.2481 p.S827 0.026 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZHX2 HGNC ENSG00000178764 44 0 0 42 20 32.2581 FAM83A 0 genome.wustl.edu 37 8 124219604 124219604 + Missense_Mutation SNP T T G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 8 124219604 124219604 T G SNP FAM83A ENST00000318462 human ensembl 74_37 +1 known missense c.981 p.S327R 0.024 NULL pfam_DUF1669 - no_errors FAM83A HGNC ENSG00000147689 33 0 0 56 4 6.66667 ATAD2 0 genome.wustl.edu 37 8 124359446 124359446 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 8 124359446 124359446 C T SNP ATAD2 ENST00000287394 human ensembl 74_37 -1 known missense c.2098 p.A700T 1.000 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 145 1 0.684932 158 48 23.301 ZC3H3 0 genome.wustl.edu 37 8 144620387 144620387 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 8 144620387 144620387 G A SNP ZC3H3 ENST00000262577 human ensembl 74_37 -1 known missense c.1150 p.P384S 0.986 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H3 HGNC ENSG00000014164 122 0 0 116 39 25.1613 POLB 0 genome.wustl.edu 37 8 42202482 42202482 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 8 42202482 42202482 C G SNP POLB ENST00000265421 human ensembl 74_37 +1 known missense c.131 p.S44C 1.000 superfamily_DNA_pol_b-like_N,smart_DNA-dir_DNA_pol_X pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA_pol_b-like_N,superfamily_DNA_pol_lambd_fingers_domain,smart_DNA-dir_DNA_pol_X,smart_Hlx-hairpin-Hlx_DNA-bd_motif,prints_DNA_pol_X_beta-like,prints_DNA_pol_X - no_errors POLB HGNC ENSG00000070501 108 0 0 69 42 37.8378 ST18 0 genome.wustl.edu 37 8 53062442 53062442 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 8 53062442 53062442 G T SNP ST18 ENST00000276480 human ensembl 74_37 -1 known missense c.1902 p.N634K 0.000 pfam_Myelin_TF pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 90 0 0 87 13 13 RRS1 0 genome.wustl.edu 37 8 67342340 67342340 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 8 67342340 67342340 G C SNP RRS1 ENST00000320270 human ensembl 74_37 +1 known missense c.974 p.G325A 1.000 NULL pfam_Ribosom_reg - no_errors RRS1 HGNC ENSG00000179041 75 0 0 35 23 39.6552 STK3 0 genome.wustl.edu 37 8 99761538 99761538 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 8 99761538 99761538 G A SNP STK3 ENST00000419617 human ensembl 74_37 -1 known missense c.317 p.S106F 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Mst1_SARAH_domain,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SARAH_dom,pfscan_Prot_kinase_dom - no_errors STK3 HGNC ENSG00000104375 92 0 0 100 43 30.0699 GRIN3A 0 genome.wustl.edu 37 9 104433073 104433073 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 9 104433073 104433073 G T SNP GRIN3A ENST00000361820 human ensembl 74_37 -1 known missense c.1621 p.Q541K 1.000 NULL pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC ENSG00000198785 103 0 0 42 56 57.1429 PTGR1 0 genome.wustl.edu 37 9 114348359 114348359 + Missense_Mutation SNP C C G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 9 114348359 114348359 C G SNP PTGR1 ENST00000309195 human ensembl 74_37 -1 known missense c.296 p.G99A 1.000 superfamily_GroES-like,smart_PKS_ER,tigrfam_B4_12hDH pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER,tigrfam_B4_12hDH - no_errors PTGR1 HGNC ENSG00000106853 134 0 0 121 43 26.2195 PHF19 0 genome.wustl.edu 37 9 123620386 123620386 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 9 123620386 123620386 C T SNP PHF19 ENST00000373896 human ensembl 74_37 -1 known missense c.1579 p.E527K 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD - no_errors PHF19 HGNC ENSG00000119403 138 0 0 65 42 39.2523 PHF19 0 genome.wustl.edu 37 9 123620439 123620439 + Missense_Mutation SNP A A T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 9 123620439 123620439 A T SNP PHF19 ENST00000373896 human ensembl 74_37 -1 known missense c.1526 p.V509D 0.989 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD - no_errors PHF19 HGNC ENSG00000119403 102 0 0 41 28 40.5797 LHX2 0 genome.wustl.edu 37 9 126794769 126794769 + Missense_Mutation SNP A A T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 9 126794769 126794769 A T SNP LHX2 ENST00000373615 human ensembl 74_37 +1 known missense c.1004 p.K335M 1.000 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX2 HGNC ENSG00000106689 101 0 0 21 63 75 MAPKAP1 0 genome.wustl.edu 37 9 128246724 128246724 + Missense_Mutation SNP A A G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 9 128246724 128246724 A G SNP MAPKAP1 ENST00000265960 human ensembl 74_37 -1 known missense c.1205 p.L402P 1.000 pfam_SIN1 pfam_SIN1 - no_errors MAPKAP1 HGNC ENSG00000119487 39 0 0 47 38 44.7059 CERCAM 0 genome.wustl.edu 37 9 131186865 131186865 + Silent SNP C C A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 9 131186865 131186865 C A SNP CERCAM ENST00000372838 human ensembl 74_37 +1 known silent c.738 p.I246 0.838 NULL pfam_Glyco_trans_25 - no_errors CERCAM HGNC ENSG00000167123 156 0 0 106 70 39.7727 C9orf78 0 genome.wustl.edu 37 9 132597529 132597529 + RNA SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 9 132597529 132597529 C T SNP C9orf78 ENST00000461349 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors C9orf78 HGNC ENSG00000136819 60 0 0 53 56 51.3761 POMT1 0 genome.wustl.edu 37 9 134386923 134386923 + RNA SNP A A C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 9 134386923 134386923 A C SNP POMT1 ENST00000485278 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors POMT1 HGNC ENSG00000130714 30 0 0 23 25 52.0833 GTF3C5 0 genome.wustl.edu 37 9 135932246 135932246 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 9 135932246 135932246 G A SNP GTF3C5 ENST00000372108 human ensembl 74_37 +1 known silent c.1365 p.R455 0.936 NULL pfam_TF_IIIC_su-5 - no_errors GTF3C5 HGNC ENSG00000148308 123 0 0 191 18 8.61244 FCN2 0 genome.wustl.edu 37 9 137778399 137778399 + Missense_Mutation SNP A A T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 9 137778399 137778399 A T SNP FCN2 ENST00000291744 human ensembl 74_37 +1 known missense c.683 p.E228V 0.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FCN2 HGNC ENSG00000160339 134 0 0 216 36 14.2857 CAMSAP1 0 genome.wustl.edu 37 9 138712788 138712788 + Missense_Mutation SNP T T G TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 9 138712788 138712788 T G SNP CAMSAP1 ENST00000409386 human ensembl 74_37 -1 known missense c.3752 p.D1251A 0.998 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC ENSG00000130559 74 0 0 61 12 16.4384 UBAC1 0 genome.wustl.edu 37 9 138825266 138825266 + Nonsense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 9 138825266 138825266 G A SNP UBAC1 ENST00000371756 human ensembl 74_37 -1 known nonsense c.1198 p.Q400* 1.000 NULL pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAC1 HGNC ENSG00000130560 110 0 0 227 40 14.9813 MAN1B1 0 genome.wustl.edu 37 9 139995507 139995507 + Missense_Mutation SNP G G T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 9 139995507 139995507 G T SNP MAN1B1 ENST00000371589 human ensembl 74_37 +1 known missense c.967 p.D323Y 0.953 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1B1 HGNC ENSG00000177239 133 0 0 160 17 9.60452 PNPLA7 0 genome.wustl.edu 37 9 140435144 140435144 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 9 140435144 140435144 G A SNP PNPLA7 ENST00000406427 human ensembl 74_37 -1 known silent c.697 p.L233 0.994 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA7 HGNC ENSG00000130653 28 0 0 38 6 13.6364 SH3GL2 0 genome.wustl.edu 37 9 17795579 17795579 + Silent SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 9 17795579 17795579 C T SNP SH3GL2 ENST00000380607 human ensembl 74_37 +1 known silent c.897 p.Y299 0.992 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3 pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,pfam_BAR_dom-cont,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3GL2 HGNC ENSG00000107295 61 0 0 11 14 56 CDC37L1 0 genome.wustl.edu 37 9 4697116 4697116 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 9 4697116 4697116 G C SNP CDC37L1 ENST00000381854 human ensembl 74_37 +1 known missense c.529 p.D177H 1.000 pfam_Cdc37_Hsp90-bd pfam_Cdc37_Hsp90-bd - no_errors CDC37L1 HGNC ENSG00000106993 51 0 0 80 28 25.9259 RANBP6 0 genome.wustl.edu 37 9 6013104 6013104 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 9 6013104 6013104 G C SNP RANBP6 ENST00000259569 human ensembl 74_37 -1 known missense c.2504 p.S835C 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors RANBP6 HGNC ENSG00000137040 126 0 0 108 91 45.7286 SPATA31D5P 0 genome.wustl.edu 37 9 84531479 84531479 + RNA SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 9 84531479 84531479 C T SNP SPATA31D5P ENST00000527857 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors SPATA31D5P HGNC ENSG00000240632 18 0 0 4 14 77.7778 ARHGAP6 0 genome.wustl.edu 37 X 11162130 11162130 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 X 11162130 11162130 C T SNP ARHGAP6 ENST00000337414 human ensembl 74_37 -1 known missense c.2146 p.E716K 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ENSG00000047648 185 0 0 39 214 84.585 AFF2 0 genome.wustl.edu 37 X 148037909 148037909 + Missense_Mutation SNP T T A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 X 148037909 148037909 T A SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known missense c.2334 p.F778L 0.221 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 47 0 0 55 4 6.77966 IL1RAPL1 0 genome.wustl.edu 37 X 29301315 29301315 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 X 29301315 29301315 C T SNP IL1RAPL1 ENST00000302196 human ensembl 74_37 +1 known missense c.343 p.L115F 0.960 smart_Ig_sub,pfscan_Ig-like_dom pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom - no_errors IL1RAPL1 HGNC ENSG00000169306 64 0 0 14 37 72.549 WDR13 0 genome.wustl.edu 37 X 48460231 48460231 + Silent SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 X 48460231 48460231 G A SNP WDR13 ENST00000218056 human ensembl 74_37 +1 known silent c.891 p.K297 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR13 HGNC ENSG00000101940 39 0 0 11 11 50 GATA1 0 genome.wustl.edu 37 X 48651642 48651642 + Missense_Mutation SNP C C T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 X 48651642 48651642 C T SNP GATA1 ENST00000376670 human ensembl 74_37 +1 known missense c.808 p.R270W 0.999 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA1 HGNC ENSG00000102145 49 0 0 7 22 75.8621 PGK1 0 genome.wustl.edu 37 X 77378856 77378856 + Silent SNP A A T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 X 77378856 77378856 A T SNP PGK1 ENST00000373316 human ensembl 74_37 +1 known silent c.921 p.I307 1.000 pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase - no_errors PGK1 HGNC ENSG00000102144 17 0 0 7 13 65 CYLC1 0 genome.wustl.edu 37 X 83129174 83129174 + Missense_Mutation SNP G G A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 X 83129174 83129174 G A SNP CYLC1 ENST00000329312 human ensembl 74_37 +1 known missense c.1458 p.M486I 0.014 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 25 0 0 4 14 77.7778 ZNF711 0 genome.wustl.edu 37 X 84526498 84526498 + Missense_Mutation SNP G G C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 X 84526498 84526498 G C SNP ZNF711 ENST00000395402 human ensembl 74_37 +1 known missense c.1974 p.R658S 0.956 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF711 HGNC ENSG00000147180 38 0 0 11 32 74.4186 FAM9B 0 genome.wustl.edu 37 X 8995918 8995918 + Silent SNP T T C TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 X 8995918 8995918 T C SNP FAM9B ENST00000327220 human ensembl 74_37 -1 known silent c.483 p.Q161 0.020 pfam_Cor1/Xlr/Xmr pfam_Cor1/Xlr/Xmr - no_errors FAM9B HGNC ENSG00000177138 55 0 0 61 28 31.4607 FAM72A 0 genome.wustl.edu 37 1 206154011 206154024 + Frame_Shift_Del DEL AAGATGTGTTAAAT AAGATGTGTTAAAT - TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 AAGATGTGTTAAAT AAGATGTGTTAAAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 206154011 206154024 AAGATGTGTTAAAT - DEL FAM72A ENST00000367128 human ensembl 74_37 +1 known frame_shift_del c.410_423 p.E137fs 1.000:1.000:1.000:0.966:0.821:0.626:0.629:0.714:0.864:0.971:0.997:1.000:1.000:0.998 NULL NULL - no_errors FAM72A HGNC ENSG00000196550 109 0 0 93 9 8.82353 GNL2 0 genome.wustl.edu 37 1 38042010 38042013 + RNA DEL CACC CACC - TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 CACC CACC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 38042010 38042013 CACC - DEL GNL2 ENST00000469191 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.002:0.000 - - - no_errors GNL2 HGNC ENSG00000134697 119 0 0 172 20 10.4167 MACF1 0 genome.wustl.edu 37 1 39801326 39801342 + Frame_Shift_Del DEL AAGTGAAAAAGGGAAAG AAGTGAAAAAGGGAAAG - TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 AAGTGAAAAAGGGAAAG AAGTGAAAAAGGGAAAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 1 39801326 39801342 AAGTGAAAAAGGGAAAG - DEL MACF1 ENST00000567887 human ensembl 74_37 +1 putative frame_shift_del c.9177_9193 p.E3061fs 0.001:0.008:0.062:0.530:0.767:0.772:0.733:0.585:0.001:0.000:0.000:0.000:0.021:0.433:0.966:0.977:0.985 superfamily_RNaseH-like_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 82 0 0 100 7 6.54206 RCN1 0 genome.wustl.edu 37 11 32124954 32124972 + Frame_Shift_Del DEL GATCCTCCCTCAAGATTAT GATCCTCCCTCAAGATTAT - TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 GATCCTCCCTCAAGATTAT GATCCTCCCTCAAGATTAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 11 32124954 32124972 GATCCTCCCTCAAGATTAT - DEL RCN1 ENST00000054950 human ensembl 74_37 +1 known frame_shift_del c.816_834 p.L274fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.014:0.995:0.994:0.687:1.000:1.000:1.000:1.000:1.000:0.363 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors RCN1 HGNC ENSG00000049449 152 0 0 64 26 28.8889 INHBC 0 genome.wustl.edu 37 12 57828874 57828875 + Frame_Shift_Del DEL AG AG - TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 12 57828874 57828875 AG - DEL INHBC ENST00000309668 human ensembl 74_37 +1 known frame_shift_del c.205_206 p.R69fs 0.972:0.967 pfam_TGF-b_N,prints_Inhibin_betaC pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaC - no_errors INHBC HGNC ENSG00000175189 108 0 0 78 20 20.4082 BRCA2 0 genome.wustl.edu 37 13 32913836 32913837 + Frame_Shift_Ins INS - - A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 13 32913836 32913837 - A INS BRCA2 ENST00000380152 human ensembl 74_37 +1 known frame_shift_ins c.5344_5345 p.N1784fs 0.000:0.000 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 73 0 0 68 10 12.8205 KIAA0100 0 genome.wustl.edu 37 17 26960977 26960983 + Frame_Shift_Del DEL AAGCCCC AAGCCCC - TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 AAGCCCC AAGCCCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 17 26960977 26960983 AAGCCCC - DEL KIAA0100 ENST00000528896 human ensembl 74_37 -1 known frame_shift_del c.3198_3192 p.L1064fs 0.578:0.562:0.567:0.452:1.000:1.000:1.000 pfam_FMP27_GFWDK_dom pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 108 0 0 60 12 16.6667 RNF43 0 genome.wustl.edu 37 17 56440698 56440720 + Frame_Shift_Del DEL CCATCAGCTTCTCAGCGTCATTA CCATCAGCTTCTCAGCGTCATTA - TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 CCATCAGCTTCTCAGCGTCATTA CCATCAGCTTCTCAGCGTCATTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 17 56440698 56440720 CCATCAGCTTCTCAGCGTCATTA - DEL RNF43 ENST00000407977 human ensembl 74_37 -1 known frame_shift_del c.520_498 p.N167fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.002:1.000:1.000:0.893:0.971:0.971:0.000:0.000:0.000:0.016 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 158 0 0 41 22 34.9206 ZNF44 0 genome.wustl.edu 37 19 12384018 12384024 + Frame_Shift_Del DEL GAACCAG GAACCAG - TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 GAACCAG GAACCAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 19 12384018 12384024 GAACCAG - DEL ZNF44 ENST00000393337 human ensembl 74_37 -1 known frame_shift_del c.1196_1190 p.P397fs 0.001:0.000:0.001:0.000:0.000:0.000:0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF44 HGNC ENSG00000197857 162 0 0 92 35 27.5591 MYT1L 0 genome.wustl.edu 37 2 1926074 1926075 + Frame_Shift_Ins INS - - T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 2 1926074 1926075 - T INS MYT1L ENST00000399161 human ensembl 74_37 -1 known frame_shift_ins c.1467_1466 p.P490fs 1.000:1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 60 0 0 13 28 68.2927 HDLBP 0 genome.wustl.edu 37 2 242186471 242186472 + Frame_Shift_Ins INS - - T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 2 242186471 242186472 - T INS HDLBP ENST00000310931 human ensembl 74_37 -1 known frame_shift_ins c.1818_1817 p.I607fs 1.000:1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 57 0 0 43 10 18.8679 RSPH1 0 genome.wustl.edu 37 21 43916250 43916257 + Frame_Shift_Del DEL TCATTCTC TCATTCTC - TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 TCATTCTC TCATTCTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 21 43916250 43916257 TCATTCTC - DEL RSPH1 ENST00000291536 human ensembl 74_37 -1 known frame_shift_del c.47_40 p.E14fs 0.190:0.184:0.182:0.361:0.915:0.985:0.996:0.999 NULL pfam_MORN,smart_MORN - no_errors RSPH1 HGNC ENSG00000160188 114 0 0 27 24 47.0588 OR11H1 0 genome.wustl.edu 37 22 16448951 16448952 + Frame_Shift_Ins INS - - T TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 22 16448951 16448952 - T INS OR11H1 ENST00000252835 human ensembl 74_37 -1 known frame_shift_ins c.854_853 p.M285fs 0.001:0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11H1 HGNC ENSG00000130538 321 0 0 305 21 6.44172 MROH2B 0 genome.wustl.edu 37 5 41033142 41033143 + Frame_Shift_Ins INS - - CAAT TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 5 41033142 41033143 - CAAT INS MROH2B ENST00000399564 human ensembl 74_37 -1 known frame_shift_ins c.2362_2361 p.D787fs 1.000:1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 39 0 0 36 13 26.5306 UNC93A 0 genome.wustl.edu 37 6 167728713 167728728 + Frame_Shift_Del DEL GCCTTCGCCAATTACC GCCTTCGCCAATTACC - TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 GCCTTCGCCAATTACC GCCTTCGCCAATTACC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 6 167728713 167728728 GCCTTCGCCAATTACC - DEL UNC93A ENST00000230256 human ensembl 74_37 +1 known frame_shift_del c.1147_1162 p.F384fs 1.000:1.000:0.975:1.000:1.000:0.995:1.000:1.000:1.000:1.000:1.000:0.998:1.000:1.000:1.000:1.000 superfamily_MFS_dom_general_subst_transpt pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93A HGNC ENSG00000112494 229 0 0 181 12 6.21762 NUP153 0 genome.wustl.edu 37 6 17675805 17675822 + In_Frame_Del DEL ATCATGCTGAGAGGTAGA ATCATGCTGAGAGGTAGA - TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 ATCATGCTGAGAGGTAGA ATCATGCTGAGAGGTAGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 6 17675805 17675822 ATCATGCTGAGAGGTAGA - DEL NUP153 ENST00000537253 human ensembl 74_37 -1 known in_frame_del c.531_514 p.STSQHD172in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 pfam_Nucleoporin_Nup153 pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors NUP153 HGNC ENSG00000124789 97 0 0 55 15 21.4286 LY6G6C 0 genome.wustl.edu 37 6 31686911 31686912 + Frame_Shift_Ins INS - - A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 6 31686911 31686912 - A INS LY6G6C ENST00000375819 human ensembl 74_37 -1 known frame_shift_ins c.340_339 p.T113fs 0.912:0.779 NULL NULL - no_errors LY6G6C HGNC ENSG00000204421 121 0 0 145 15 9.375 ANKMY2 0 genome.wustl.edu 37 7 16676082 16676083 + Splice_Site INS - - A TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 7 16676082 16676083 - A INS ANKMY2 ENST00000306999 human ensembl 74_37 -1 known splice_site_ins c.68-3_68-2 e2-2 0.833:0.000 - - - no_errors ANKMY2 HGNC ENSG00000106524 34 0 0 33 2 5.71429 TRPS1 0 genome.wustl.edu 37 8 116616365 116616373 + In_Frame_Del DEL AGAGTGCAC AGAGTGCAC - TCGA-D7-A4YT-01A-11D-A25D-08 TCGA-D7-A4YT-10A-01D-A25E-08 AGAGTGCAC AGAGTGCAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f16cadc2-52ef-49b2-8cec-8929f4719d95 1cfe678d-c4cf-457a-8958-7c915f02eef7 8 116616365 116616373 AGAGTGCAC - DEL TRPS1 ENST00000395715 human ensembl 74_37 -1 known in_frame_del c.1831_1823 p.CAL608in_frame_del 1.000:1.000:1.000:1.000:0.985:1.000:1.000:1.000:1.000 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 109 0 0 49 25 33.7838