#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
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	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_header	i_normal_VAF	i_normal_ref_reads	i_normal_var_reads	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_tier	i_title	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_VAF	i_tumor_ref_reads	i_tumor_var_reads	i_type	i_ucsc_cons	i_variant
ACLY	47	genome.wustl.edu	37	17	40027984	40027984	+	Missense_Mutation	SNP	C	C	A	rs387907388		TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr17:40027984C>A	ENST00000352035.2	-	25	3025	c.2895G>T	c.(2893-2895)aaG>aaT	p.K965N	ACLY_ENST00000588779.1_5'Flank|ACLY_ENST00000353196.1_Missense_Mutation_p.K955N|ACLY_ENST00000393896.2_Missense_Mutation_p.K955N|ACLY_ENST00000590151.1_Missense_Mutation_p.K965N|ACLY_ENST00000537919.1_Missense_Mutation_p.K694N	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	965					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GCTTCCCTTCCTTCTTCATCT	0.527																																					Colon(64;807 1396 15971 30971)												0													163.0	139.0	147.0					17																	40027984		2203	4300	6503	SO:0001583	missense	0			X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.2895G>T	17.37:g.40027984C>A	ENSP00000253792:p.Lys965Asn		B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase	p.K965N	ENST00000352035.2	37	c.2895	CCDS11412.1	17	.	.	.	.	.	.	.	.	.	.	c	15.08	2.728178	0.48833	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	D;D;D;D	0.89485	-1.54;-1.54;-2.52;-1.54	5.95	-0.621	0.11564	Citrate synthase-like, small alpha subdomain (1);Citrate synthase-like, core (1);	0.139591	0.64402	D	0.000005	D	0.89322	0.6682	L	0.57536	1.79	0.58432	D	0.999995	D;D;D;B;D	0.61080	0.989;0.989;0.989;0.02;0.966	P;P;P;B;P	0.57679	0.761;0.69;0.825;0.044;0.761	D	0.86718	0.1940	10	0.56958	D	0.05	.	9.0729	0.36504	0.0:0.4555:0.0:0.5445	.	694;1009;1019;955;965	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	N	965;1019;955;694;955	ENSP00000253792:K965N;ENSP00000345398:K955N;ENSP00000445349:K694N;ENSP00000377474:K955N	ENSP00000253792:K965N	K	-	3	2	ACLY	37281510	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	1.081000	0.30791	0.144000	0.18951	-0.215000	0.12644	AAG	ACLY	-	pfam_Citrate_synthase-like,superfamily_Citrate_synthase-like_core,pirsf_ATP-citrate_synthase	ENSG00000131473		0.527	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACLY	HGNC	protein_coding	OTTHUMT00000257465.1	-	0.00	95	0	C	NM_001096		40027984	-1	tier1	-	no_errors	ENST00000352035	ensembl	human	known	74_37	missense	19.40	54	13	SNP	0.998	A
ACOT4	122970	genome.wustl.edu	37	14	74058892	74058892	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr14:74058892C>G	ENST00000326303.4	+	1	483	c.229C>G	c.(229-231)Ccc>Gcc	p.P77A		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	77					acyl-CoA metabolic process (GO:0006637)|dicarboxylic acid catabolic process (GO:0043649)|dicarboxylic acid metabolic process (GO:0043648)|long-chain fatty acid metabolic process (GO:0001676)|saturated monocarboxylic acid metabolic process (GO:0032788)|short-chain fatty acid metabolic process (GO:0046459)|succinyl-CoA metabolic process (GO:0006104)|unsaturated monocarboxylic acid metabolic process (GO:0032789)|very long-chain fatty acid metabolic process (GO:0000038)	peroxisome (GO:0005777)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|succinyl-CoA hydrolase activity (GO:0004778)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GGGACTCGAGCCCATGGGGCT	0.692																																																	0													14.0	15.0	15.0					14																	74058892		2145	4169	6314	SO:0001583	missense	0			BC031799	CCDS9817.1	14q24.1	2011-02-16			ENSG00000177465	ENSG00000177465		"""Acyl CoA thioesterases"""	19748	protein-coding gene	gene with protein product		614314				16103133, 16940157	Standard	NM_152331		Approved	FLJ31235, PTE-Ib, PTE2B	uc001xoo.3	Q8N9L9	OTTHUMG00000169485	ENST00000326303.4:c.229C>G	14.37:g.74058892C>G	ENSP00000323071:p.Pro77Ala		Q17RF4|Q5BKT6|Q86TX0|Q86TX1|Q96N88	Missense_Mutation	SNP	pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain	p.P77A	ENST00000326303.4	37	c.229	CCDS9817.1	14	.	.	.	.	.	.	.	.	.	.	C	31	5.080086	0.94050	.	.	ENSG00000177465	ENST00000326303	T	0.70282	-0.47	4.93	4.93	0.64822	Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase (1);	0.000000	0.85682	D	0.000000	T	0.80019	0.4547	M	0.81802	2.56	0.80722	D	1	P	0.49635	0.926	P	0.50049	0.629	D	0.83564	0.0108	10	0.62326	D	0.03	-14.7993	18.4959	0.90865	0.0:1.0:0.0:0.0	.	77	Q8N9L9	ACOT4_HUMAN	A	77	ENSP00000323071:P77A	ENSP00000323071:P77A	P	+	1	0	ACOT4	73128645	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.348000	0.66004	2.438000	0.82558	0.462000	0.41574	CCC	ACOT4	-	pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain	ENSG00000177465		0.692	ACOT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT4	HGNC	protein_coding	OTTHUMT00000404298.2	-	0.00	39	0	C	NM_152331		74058892	+1	tier1	-	no_errors	ENST00000326303	ensembl	human	known	74_37	missense	35.71	9	5	SNP	1.000	G
ADAM30	11085	genome.wustl.edu	37	1	120437095	120437095	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr1:120437095delT	ENST00000369400.1	-	1	2023	c.1865delA	c.(1864-1866)aatfs	p.N622fs		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	622	Cys-rich.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		ATTGACGCAATTTTTTTTAAA	0.448																																																	0										10,4256		3,4,2126	59.0	61.0	61.0			-3.0	0.0	1		61	10,8244		5,0,4122	no	frameshift	ADAM30	NM_021794.3		8,4,6248	A1A1,A1R,RR		0.1212,0.2344,0.1597			120437095	20,12500	2203	4300	6503	SO:0001589	frameshift_variant	0			AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.1865delA	1.37:g.120437095delT	ENSP00000358407:p.Asn622fs		A8K8W8|Q5T3X6|Q9UKF1	Frame_Shift_Del	DEL	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.N622fs	ENST00000369400.1	37	c.1865	CCDS907.1	1																																																																																			ADAM30	-	smart_ADAM_Cys-rich	ENSG00000134249		0.448	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM30	HGNC	protein_coding	OTTHUMT00000033678.1		0.00	51	0	T	NM_021794		120437095	-1	tier1		no_errors	ENST00000369400	ensembl	human	known	74_37	frame_shift_del	12.00	22	3	DEL	0.000	-
ALKBH8	91801	genome.wustl.edu	37	11	107375398	107375398	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr11:107375398G>A	ENST00000428149.2	-	12	2132	c.1981C>T	c.(1981-1983)Ctt>Ttt	p.L661F	ALKBH8_ENST00000389568.3_Missense_Mutation_p.L661F|ALKBH8_ENST00000429370.1_Intron|ALKBH8_ENST00000417449.2_Missense_Mutation_p.L664F	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	661	Methyltransferase domain.				cellular response to DNA damage stimulus (GO:0006974)|tRNA methylation (GO:0030488)	cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|RNA binding (GO:0003723)|tRNA (uracil) methyltransferase activity (GO:0016300)			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		GCCTTTTGAAGAATCACACAC	0.373																																																	0													38.0	33.0	34.0					11																	107375398		692	1591	2283	SO:0001583	missense	0			AF086489	CCDS8337.2, CCDS73376.1	11q22.3	2013-10-04			ENSG00000137760	ENSG00000137760	2.1.1.229	"""Alkylation repair homologs"", ""RNA binding motif (RRM) containing"""	25189	protein-coding gene	gene with protein product		613306				20123966	Standard	NM_138775		Approved	MGC10235	uc009yxp.3	Q96BT7	OTTHUMG00000157008	ENST00000428149.2:c.1981C>T	11.37:g.107375398G>A	ENSP00000415885:p.Leu661Phe		B1Q2M0|B4DEF6|Q8N989	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_AlkB_hom8_N,pfam_Oxoglu/Fe-dep_dioxygenase,pfam_Methyltransferase-rel	p.L664F	ENST00000428149.2	37	c.1990	CCDS8337.2	11	.	.	.	.	.	.	.	.	.	.	G	7.925	0.739506	0.15642	.	.	ENSG00000137760	ENST00000428149;ENST00000389568;ENST00000417449	T;T;T	0.53857	0.61;0.61;0.6	5.09	4.06	0.47325	.	0.206543	0.42053	D	0.000771	T	0.41926	0.1180	L	0.39020	1.185	0.49915	D	0.999837	B;B	0.29232	0.043;0.238	B;B	0.30855	0.03;0.121	T	0.38090	-0.9677	10	0.41790	T	0.15	-22.4434	11.0021	0.47611	0.1265:0.0:0.8735:0.0	.	661;664	Q96BT7;Q96BT7-4	ALKB8_HUMAN;.	F	661;661;664	ENSP00000415885:L661F;ENSP00000374219:L661F;ENSP00000397673:L664F	ENSP00000374219:L661F	L	-	1	0	ALKBH8	106880608	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.202000	0.42743	2.368000	0.80403	0.650000	0.86243	CTT	ALKBH8	-	NULL	ENSG00000137760		0.373	ALKBH8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALKBH8	HGNC	protein_coding	OTTHUMT00000347071.2		0.00	46	0	G	NM_138775		107375398	-1			no_errors	ENST00000417449	ensembl	human	known	74_37	missense	6.52	43	3	SNP	0.998	A
APOB	338	genome.wustl.edu	37	2	21231540	21231540	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr2:21231540G>T	ENST00000233242.1	-	26	8327	c.8200C>A	c.(8200-8202)Cct>Act	p.P2734T		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2734				Missing (in Ref. 15; AAA51758). {ECO:0000305}.	artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.P2734S(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAAGGTCAGGAACTTGAAAA	0.418																																																	1	Substitution - Missense(1)	skin(1)											187.0	188.0	188.0					2																	21231540		2203	4300	6503	SO:0001583	missense	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8200C>A	2.37:g.21231540G>T	ENSP00000233242:p.Pro2734Thr		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.P2734T	ENST00000233242.1	37	c.8200	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	G	11.84	1.759959	0.31137	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00824	5.65	5.22	2.33	0.28932	.	0.231537	0.30260	N	0.010037	T	0.01029	0.0034	L	0.43152	1.355	0.80722	D	1	B	0.25772	0.134	B	0.23852	0.049	T	0.62671	-0.6805	10	0.36615	T	0.2	.	6.4474	0.21883	0.1529:0.2765:0.5706:0.0	.	2734	P04114	APOB_HUMAN	T	2734	ENSP00000233242:P2734T	ENSP00000233242:P2734T	P	-	1	0	APOB	21085045	1.000000	0.71417	0.838000	0.33150	0.635000	0.38103	0.980000	0.29513	0.173000	0.19788	0.561000	0.74099	CCT	APOB	-	NULL	ENSG00000084674		0.418	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1		0.00	37	0	G			21231540	-1			no_errors	ENST00000233242	ensembl	human	known	74_37	missense	12.50	14	2	SNP	0.994	T
ALMS1P	200420	genome.wustl.edu	37	2	73912287	73912287	+	RNA	SNP	G	G	T			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr2:73912287G>T	ENST00000450720.1	+	0	1185					NR_003683.2		Q96L16	ALM1L_HUMAN	Alstrom syndrome 1 pseudogene						endosomal transport (GO:0016197)|regulation of stress fiber assembly (GO:0051492)												GTCGGGTGGGGGGATTTTCTG	0.483																																																	0																																												0			BC014492		2p13.2	2008-01-31	2008-01-31	2008-01-31	ENSG00000163016	ENSG00000163016			29586	pseudogene	pseudogene			"""Alstrom syndrome 1-like"""	ALMS1L		12477932	Standard	NR_003683		Approved		uc010yrl.2	Q96L16	OTTHUMG00000152773		2.37:g.73912287G>T				RNA	SNP	-	NULL	ENST00000450720.1	37	NULL		2																																																																																			ALMS1P	-	-	ENSG00000163016		0.483	ALMS1P-002	KNOWN	basic	processed_transcript	ALMS1P	HGNC	pseudogene	OTTHUMT00000339824.1		0.00	28	0	G	NR_003683		73912287	+1			no_errors	ENST00000450720	ensembl	human	known	74_37	rna	23.53	13	4	SNP	0.003	T
ARHGEF15	22899	genome.wustl.edu	37	17	8222388	8222388	+	Silent	SNP	G	G	A			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr17:8222388G>A	ENST00000361926.3	+	13	2207	c.2097G>A	c.(2095-2097)ccG>ccA	p.P699P	AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000582060.1_3'UTR|ARHGEF15_ENST00000421050.1_Silent_p.P699P	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	699					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						AGCAGGTTCCGGATCCATCTG	0.622																																																	0													79.0	84.0	82.0					17																	8222388		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.2097G>A	17.37:g.8222388G>A			A8K6G1|Q8N449|Q9H8B4	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	p.P699	ENST00000361926.3	37	c.2097	CCDS11139.1	17																																																																																			ARHGEF15	-	NULL	ENSG00000198844		0.622	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF15	HGNC	protein_coding	OTTHUMT00000226993.2	-	0.00	18	0	G	NM_173728		8222388	+1	tier1	-	no_errors	ENST00000361926	ensembl	human	known	74_37	silent	29.17	17	7	SNP	0.418	A
ASMT	438	genome.wustl.edu	37	X	1748766	1748766	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chrX:1748766G>A	ENST00000381229.4	+	5	532	c.496G>A	c.(496-498)Gtc>Atc	p.V166I	ASMT_ENST00000509780.1_Intron|ASMT_ENST00000381233.3_Missense_Mutation_p.V166I|ASMT_ENST00000381241.3_Missense_Mutation_p.V166I			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	166			V -> I. {ECO:0000269|PubMed:23349736}.		cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Melatonin(DB01065)	GGTCTGGAGCGTCAACGGGAG	0.567													g|||	1	0.000199681	0.0	0.0	5008	,	,		19558	0.0		0.0	False		,,,				2504	0.001																0									ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	441.0	353.0	383.0		496,496,496	-0.5	0.5	X		383	2,8590		0,2,4294	no	missense,missense,missense	ASMT	NM_001171038.1,NM_001171039.1,NM_004043.2	29,29,29	0,2,6497	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign	166/374,166/299,166/374	1748766	2,12996	2203	4296	6499	SO:0001583	missense	0			M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"""Pseudoautosomal regions / PAR1"""	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.496G>A	X.37:g.1748766G>A	ENSP00000370627:p.Val166Ile		B2RC33|Q16598|Q5JQ72|Q5JQ73	Missense_Mutation	SNP	pfam_O_MeTrfase_2,pirsf_COMT	p.V166I	ENST00000381229.4	37	c.496		X	.	.	.	.	.	.	.	.	.	.	g	0.168	-1.074301	0.01903	0.0	2.33E-4	ENSG00000196433	ENST00000381241;ENST00000381229;ENST00000381233	T;T;T	0.21734	1.99;1.99;2.22	1.45	-0.488	0.12056	.	0.126684	0.49305	U	0.000150	T	0.04815	0.0130	N	0.01761	-0.735	0.09310	N	1	B;B	0.17667	0.007;0.023	B;B	0.10450	0.005;0.005	T	0.39683	-0.9602	10	0.06757	T	0.87	.	4.1909	0.10421	0.7359:0.0:0.2641:0.0	.	166;166	P46597-2;P46597-3	.;.	I	166	ENSP00000370639:V166I;ENSP00000370627:V166I;ENSP00000370631:V166I	ENSP00000370627:V166I	V	+	1	0	ASMT	1708766	0.960000	0.32886	0.541000	0.28102	0.244000	0.25665	0.523000	0.22925	0.439000	0.26476	0.100000	0.15512	GTC	ASMT	-	pfam_O_MeTrfase_2,pirsf_COMT	ENSG00000196433		0.567	ASMT-002	KNOWN	basic|appris_principal	protein_coding	ASMT	HGNC	protein_coding	OTTHUMT00000055612.1	-	0.00	203	0	G	NM_004043		1748766	+1	tier1	-	no_errors	ENST00000381241	ensembl	human	known	74_37	missense	14.94	131	23	SNP	0.999	A
ARSF	416	genome.wustl.edu	37	X	3030501	3030501	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chrX:3030501G>C	ENST00000381127.1	+	11	1898	c.1677G>C	c.(1675-1677)agG>agC	p.R559S	ARSF_ENST00000537104.1_Missense_Mutation_p.R559S|ARSF_ENST00000359361.2_Missense_Mutation_p.R559S	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	559					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATCAGGGCAGGACGTGGCTGA	0.502																																																	0													87.0	66.0	73.0					X																	3030501		2203	4300	6503	SO:0001583	missense	0			X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.1677G>C	X.37:g.3030501G>C	ENSP00000370519:p.Arg559Ser		Q8TCC5	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.R559S	ENST00000381127.1	37	c.1677	CCDS14123.1	X	.	.	.	.	.	.	.	.	.	.	G	7.677	0.688161	0.14973	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.89810	-2.57;-2.57;-2.57	2.52	-5.04	0.02964	Alkaline-phosphatase-like, core domain (1);	1.994460	0.02816	N	0.124931	T	0.79305	0.4423	L	0.32530	0.975	0.09310	N	1	B	0.13594	0.008	B	0.13407	0.009	T	0.61700	-0.7009	10	0.30854	T	0.27	.	0.9881	0.01451	0.2455:0.338:0.2104:0.2061	.	559	P54793	ARSF_HUMAN	S	559	ENSP00000370519:R559S;ENSP00000445594:R559S;ENSP00000352319:R559S	ENSP00000352319:R559S	R	+	3	2	ARSF	3040501	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.573000	0.05874	-1.819000	0.01216	0.411000	0.27672	AGG	ARSF	-	superfamily_Alkaline_phosphatase_core	ENSG00000062096		0.502	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSF	HGNC	protein_coding	OTTHUMT00000055652.1	-	0.00	57	0	G			3030501	+1	tier1	-	no_errors	ENST00000359361	ensembl	human	known	74_37	missense	25.71	26	9	SNP	0.000	C
BARHL1	56751	genome.wustl.edu	37	9	135458334	135458334	+	Silent	SNP	G	G	T			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr9:135458334G>T	ENST00000263610.2	+	1	763	c.150G>T	c.(148-150)tcG>tcT	p.S50S	BARHL1_ENST00000542090.1_Silent_p.S50S	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	50					midbrain development (GO:0030901)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		ACTGCTCTTCGCCAGCCTCTC	0.701																																																	0													38.0	45.0	43.0					9																	135458334		2201	4297	6498	SO:0001819	synonymous_variant	0			AJ237816	CCDS6950.1	9q34.13	2011-06-20	2007-07-09		ENSG00000125492	ENSG00000125492		"""Homeoboxes / ANTP class : NKL subclass"""	953	protein-coding gene	gene with protein product		605211	"""BarH (Drosophila)-like 1"""				Standard	NM_020064		Approved		uc004cbp.1	Q9BZE3	OTTHUMG00000020839	ENST00000263610.2:c.150G>T	9.37:g.135458334G>T			Q5T6V2|Q9NY88	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom	p.S50	ENST00000263610.2	37	c.150	CCDS6950.1	9																																																																																			BARHL1	-	NULL	ENSG00000125492		0.701	BARHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARHL1	HGNC	protein_coding	OTTHUMT00000054789.2	-	0.00	64	0	G			135458334	+1	tier1	-	no_errors	ENST00000263610	ensembl	human	known	74_37	silent	15.79	31	6	SNP	0.932	T
C7orf13	129790	genome.wustl.edu	37	7	156432831	156432831	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr7:156432831C>A	ENST00000333319.6	-	1	517	c.518G>T	c.(517-519)gGc>gTc	p.G173V	RNF32_ENST00000405335.1_5'Flank|RNF32_ENST00000432459.2_5'Flank|RNF32_ENST00000317955.5_5'Flank|RNF32_ENST00000392743.2_5'Flank|RNF32_ENST00000311822.8_5'Flank			Q8NI28	CG013_HUMAN	chromosome 7 open reading frame 13	173						integral component of membrane (GO:0016021)											CAGAGAAGGGCCAGGAGTCAC	0.672																																																	0																																										SO:0001583	missense	0					7q36.3	2013-01-15			ENSG00000244291	ENSG00000244291			17126	other	unknown		610242				11890671	Standard	NR_026865		Approved	MY040	uc003wmm.3	Q8NI28	OTTHUMG00000157237	ENST00000333319.6:c.518G>T	7.37:g.156432831C>A	ENSP00000331784:p.Gly173Val			Missense_Mutation	SNP	NULL	p.G173V	ENST00000333319.6	37	c.518		7	.	.	.	.	.	.	.	.	.	.	C	7.068	0.567736	0.13560	.	.	ENSG00000244291	ENST00000333319	.	.	.	1.17	1.17	0.20885	.	.	.	.	.	T	0.56202	0.1969	.	.	.	0.09310	N	1	D	0.76494	0.999	D	0.81914	0.995	T	0.36672	-0.9738	7	0.87932	D	0	.	5.6871	0.17809	0.0:1.0:0.0:0.0	.	173	Q8NI28	CG013_HUMAN	V	173	.	ENSP00000331784:G173V	G	-	2	0	C7orf13	156125592	0.000000	0.05858	0.002000	0.10522	0.051000	0.14879	-0.596000	0.05720	0.942000	0.37525	0.313000	0.20887	GGC	C7orf13	-	NULL	ENSG00000244291		0.672	C7orf13-001	KNOWN	basic|appris_principal	protein_coding	C7orf13	HGNC	protein_coding	OTTHUMT00000348106.1		0.00	38	0	C	NR_026865		156432831	-1			no_errors	ENST00000333319	ensembl	human	known	74_37	missense	10.34	26	3	SNP	0.002	A
CACNA1G	8913	genome.wustl.edu	37	17	48696187	48696187	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr17:48696187C>A	ENST00000359106.5	+	33	5599	c.5599C>A	c.(5599-5601)Cta>Ata	p.L1867I	CACNA1G_ENST00000514079.1_Missense_Mutation_p.L1874I|CACNA1G_ENST00000507609.1_Missense_Mutation_p.L1860I|CACNA1G_ENST00000513689.2_Missense_Mutation_p.L1822I|CACNA1G_ENST00000510366.1_Missense_Mutation_p.L1815I|CACNA1G_ENST00000507336.1_Missense_Mutation_p.L1856I|CACNA1G_ENST00000354983.4_Missense_Mutation_p.L1833I|CACNA1G_ENST00000502264.1_Missense_Mutation_p.L1844I|CACNA1G_ENST00000442258.2_Missense_Mutation_p.L1826I|CACNA1G_ENST00000513964.1_Missense_Mutation_p.L1822I|CACNA1G_ENST00000515411.1_Missense_Mutation_p.L1849I|CACNA1G_ENST00000505165.1_Missense_Mutation_p.L1867I|CACNA1G_ENST00000514717.1_Missense_Mutation_p.L1810I|CACNA1G_ENST00000510115.1_Missense_Mutation_p.L1833I|CACNA1G_ENST00000514181.1_Missense_Mutation_p.L1842I|CACNA1G_ENST00000512389.1_Missense_Mutation_p.L1856I|CACNA1G_ENST00000360761.4_Missense_Mutation_p.L1844I|CACNA1G_ENST00000429973.2_Missense_Mutation_p.L1849I|CACNA1G_ENST00000507896.1_Missense_Mutation_p.L1856I|CACNA1G_ENST00000503485.1_Missense_Mutation_p.L1833I|CACNA1G_ENST00000507510.2_Missense_Mutation_p.L1867I|CACNA1G_ENST00000352832.5_Missense_Mutation_p.L1833I|CACNA1G_ENST00000515765.1_Missense_Mutation_p.L1856I|CACNA1G_ENST00000515165.1_Missense_Mutation_p.L1867I|CACNA1G_ENST00000358244.5_Missense_Mutation_p.L1833I	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1867					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGAGGCCGAGCTAGAGGCTGA	0.652																																																	0													42.0	49.0	47.0					17																	48696187		2143	4239	6382	SO:0001583	missense	0			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.5599C>A	17.37:g.48696187C>A	ENSP00000352011:p.Leu1867Ile		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.L1867I	ENST00000359106.5	37	c.5599	CCDS45730.1	17	.	.	.	.	.	.	.	.	.	.	c	16.23	3.065865	0.55539	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;T;D;D;D;D;D;D;D;T;T;T;D;T;D;D;T;D;D;T;D;T;D;D	0.97016	-4.07;-4.07;0.52;-4.06;-4.09;-4.09;-4.21;-4.16;-4.19;-4.19;0.52;0.52;0.52;-4.02;0.52;-4.09;-4.01;0.52;-4.07;-4.06;0.52;-4.09;0.52;-4.09;-4.09	4.9	3.9	0.45041	.	18.723700	0.00639	U	0.000516	D	0.97492	0.9179	L	0.46157	1.445	0.29330	N	0.866777	B;B;B;D;D;B;B;B;B;B;B;P;B;D;B;D;B;D;D;B;B;P;B;P;P	0.57257	0.133;0.095;0.046;0.979;0.978;0.293;0.163;0.053;0.293;0.053;0.397;0.538;0.095;0.978;0.163;0.978;0.1;0.969;0.978;0.053;0.209;0.901;0.093;0.822;0.51	B;B;B;D;P;B;B;B;B;B;B;B;B;P;B;P;B;P;P;B;B;P;B;P;B	0.74348	0.039;0.119;0.046;0.983;0.656;0.115;0.085;0.144;0.115;0.119;0.113;0.366;0.119;0.591;0.085;0.744;0.126;0.671;0.744;0.144;0.057;0.49;0.113;0.564;0.142	D	0.89522	0.3779	10	0.25751	T	0.34	.	13.6448	0.62275	0.0:0.9236:0.0:0.0764	.	1810;1822;1815;1849;1822;1842;1874;1833;1860;1856;1867;1844;1856;1856;1849;1856;1867;1844;1867;1833;1826;1833;1844;1867;1833	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	I	1844;1833;1833;1826;1844;1856;1822;1810;1815;1833;1867;1856;1822;1860;1833;1867;1842;1856;1874;1833;1867;1849;1849;1867;1856	ENSP00000353990:L1844I;ENSP00000339302:L1833I;ENSP00000347078:L1833I;ENSP00000409759:L1826I;ENSP00000425522:L1844I;ENSP00000426261:L1856I;ENSP00000425451:L1822I;ENSP00000422407:L1810I;ENSP00000426814:L1815I;ENSP00000427238:L1833I;ENSP00000423112:L1867I;ENSP00000420918:L1856I;ENSP00000426172:L1822I;ENSP00000423045:L1860I;ENSP00000427173:L1833I;ENSP00000426098:L1867I;ENSP00000425698:L1842I;ENSP00000426232:L1856I;ENSP00000423317:L1874I;ENSP00000350979:L1833I;ENSP00000352011:L1867I;ENSP00000414388:L1849I;ENSP00000423155:L1849I;ENSP00000422268:L1867I;ENSP00000421518:L1856I	ENSP00000339302:L1833I	L	+	1	2	CACNA1G	46051186	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	1.743000	0.38258	1.044000	0.40200	0.552000	0.68991	CTA	CACNA1G	-	NULL	ENSG00000006283		0.652	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	HGNC	protein_coding	OTTHUMT00000367895.1	-	0.00	77	0	C	NM_018896		48696187	+1	tier1	-	no_errors	ENST00000359106	ensembl	human	known	74_37	missense	11.63	38	5	SNP	1.000	A
CAPSL	133690	genome.wustl.edu	37	5	35921208	35921208	+	Silent	SNP	C	C	T	rs370687666		TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr5:35921208C>T	ENST00000397367.2	-	2	141	c.15G>A	c.(13-15)gcG>gcA	p.A5A	CAPSL_ENST00000514524.1_Silent_p.A5A|CAPSL_ENST00000397366.1_Silent_p.A5A	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	5						cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			GGTCATGGCGCGCTGTCCCTG	0.612																																																	0								C	,	0,4406		0,0,2203	76.0	67.0	70.0		15,15	-9.6	0.5	5		70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CAPSL	NM_001042625.1,NM_144647.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	5/209,5/209	35921208	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			BC017586	CCDS3912.2	5p13.2	2013-01-10			ENSG00000152611	ENSG00000152611		"""EF-hand domain containing"""	28375	protein-coding gene	gene with protein product						12477932	Standard	NM_001042625		Approved	MGC26610	uc003jju.1	Q8WWF8	OTTHUMG00000131109	ENST00000397367.2:c.15G>A	5.37:g.35921208C>T				Silent	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,prints_Recoverin,pfscan_EF_hand_dom	p.A5	ENST00000397367.2	37	c.15	CCDS3912.2	5																																																																																			CAPSL	-	NULL	ENSG00000152611		0.612	CAPSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPSL	HGNC	protein_coding	OTTHUMT00000253772.2	-	0.00	82	0	C	NM_144647		35921208	-1	tier1	-	no_errors	ENST00000397366	ensembl	human	known	74_37	silent	21.74	36	10	SNP	0.097	T
CDC45	8318	genome.wustl.edu	37	22	19496146	19496146	+	Silent	SNP	G	G	A			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr22:19496146G>A	ENST00000407835.1	+	14	1405	c.1149G>A	c.(1147-1149)ttG>ttA	p.L383L	CDC45_ENST00000263201.1_Silent_p.L383L|CDC45_ENST00000437685.2_Silent_p.L415L|CDC45_ENST00000404724.3_Silent_p.L337L			O75419	CDC45_HUMAN	cell division cycle 45	383					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						CCATGTCTTTGATGGAGAGCC	0.547																																																	0													131.0	108.0	116.0					22																	19496146		2203	4300	6503	SO:0001819	synonymous_variant	0			AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"""human CDC45"""	603465	"""CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like"", ""CDC45 cell division cycle 45-like (S. cerevisiae)"", ""cell division cycle 45 homolog (S. cerevisiae)"""	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.1149G>A	22.37:g.19496146G>A			B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Silent	SNP	pfam_CDC45	p.L415	ENST00000407835.1	37	c.1245	CCDS13762.1	22																																																																																			CDC45	-	pfam_CDC45	ENSG00000093009		0.547	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CDC45	HGNC	protein_coding	OTTHUMT00000317903.1	-	0.00	68	0	G	NM_003504		19496146	+1	tier1	-	no_errors	ENST00000437685	ensembl	human	known	74_37	silent	7.14	52	4	SNP	0.999	A
CERK	64781	genome.wustl.edu	37	22	47103869	47103869	+	Nonsense_Mutation	SNP	C	C	A	rs553735922		TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr22:47103869C>A	ENST00000216264.8	-	6	698	c.586G>T	c.(586-588)Gga>Tga	p.G196*	CERK_ENST00000541677.1_5'UTR	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	196	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.|Substrate binding. {ECO:0000250}.				ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ATACCATCTCCGCCGACACAG	0.667																																																	0													35.0	32.0	33.0					22																	47103869		2203	4300	6503	SO:0001587	stop_gained	0			AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.586G>T	22.37:g.47103869C>A	ENSP00000216264:p.Gly196*		A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Nonsense_Mutation	SNP	pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom	p.G196*	ENST00000216264.8	37	c.586	CCDS14077.1	22	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962364	0.92791	.	.	ENSG00000100422	ENST00000216264	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.5194	15.7995	0.78443	0.0:1.0:0.0:0.0	.	.	.	.	X	196	.	ENSP00000216264:G196X	G	-	1	0	CERK	45482533	1.000000	0.71417	0.396000	0.26296	0.042000	0.13812	6.762000	0.74950	2.330000	0.79161	0.655000	0.94253	GGA	CERK	-	pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom	ENSG00000100422		0.667	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CERK	HGNC	protein_coding	OTTHUMT00000317924.2		0.00	86	0	C	NM_022766		47103869	-1			no_errors	ENST00000216264	ensembl	human	known	74_37	nonsense	6.98	40	3	SNP	1.000	A
CKAP5	9793	genome.wustl.edu	37	11	46776437	46776437	+	Splice_Site	SNP	C	C	A			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr11:46776437C>A	ENST00000529230.1	-	36	4916		c.e36+1		MIR5582_ENST00000579697.1_RNA|CKAP5_ENST00000312055.5_Intron|CKAP5_ENST00000354558.3_Intron|CKAP5_ENST00000415402.1_Splice_Site			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5						centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GGTGCCCTTACCGAAATCATG	0.458																																					Ovarian(4;85 273 2202 4844 13323)												0													217.0	195.0	202.0					11																	46776437		2201	4299	6500	SO:0001630	splice_region_variant	0				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.4869+1G>T	11.37:g.46776437C>A			Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Splice_Site	SNP	-	e35+1	ENST00000529230.1	37	c.4869+1	CCDS31477.1	11	.	.	.	.	.	.	.	.	.	.	C	29.1	4.979526	0.92982	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000527333;ENST00000526876	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5633	0.95382	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CKAP5	46733013	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.606000	0.82863	2.612000	0.88384	0.563000	0.77884	.	CKAP5	-	-	ENSG00000175216		0.458	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP5	HGNC	protein_coding	OTTHUMT00000390679.1	-	0.00	91	0	C	NM_014756	Intron	46776437	-1	tier1	-	no_errors	ENST00000415402	ensembl	human	known	74_37	splice_site	14.12	73	12	SNP	1.000	A
CLUH	23277	genome.wustl.edu	37	17	2607801	2607801	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr17:2607801G>A	ENST00000570628.2	-	2	149	c.44C>T	c.(43-45)gCg>gTg	p.A15V	CLUH_ENST00000435359.1_Missense_Mutation_p.A15V|CLUH_ENST00000538975.1_Missense_Mutation_p.A15V			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	15					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											GGCCGCCGCCGCCTCCTTCTT	0.622																																																	0													15.0	19.0	18.0					17																	2607801		1943	4119	6062	SO:0001583	missense	0			AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.44C>T	17.37:g.2607801G>A	ENSP00000458986:p.Ala15Val		Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	superfamily_GSKIP_dom	p.A15V	ENST00000570628.2	37	c.44	CCDS45572.1	17	.	.	.	.	.	.	.	.	.	.	N	11.19	1.567085	0.28003	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	T;T	0.80304	-1.36;-1.36	4.96	3.84	0.44239	.	0.488084	0.19306	N	0.117511	T	0.68952	0.3057	L	0.29908	0.895	0.29001	N	0.887459	B	0.23249	0.082	B	0.16289	0.015	T	0.56649	-0.7944	10	0.32370	T	0.25	.	11.0885	0.48102	0.0:0.0:0.2963:0.7037	.	15	O75153	K0664_HUMAN	V	15	ENSP00000388872:A15V;ENSP00000439628:A15V	ENSP00000320468:A15V	A	-	2	0	KIAA0664	2554551	0.065000	0.20965	0.221000	0.23827	0.032000	0.12392	1.551000	0.36233	0.220000	0.20860	-0.456000	0.05471	GCG	CLUH	-	NULL	ENSG00000132361		0.622	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLUH	HGNC	protein_coding	OTTHUMT00000437807.2		0.00	71	0	G	NM_015229		2607801	-1			no_errors	ENST00000435359	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.915	A
COPS7B	64708	genome.wustl.edu	37	2	232659056	232659056	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr2:232659056A>T	ENST00000350033.3	+	4	463	c.322A>T	c.(322-324)Atg>Ttg	p.M108L	COPS7B_ENST00000410024.1_Missense_Mutation_p.M108L|COPS7B_ENST00000409091.1_Start_Codon_SNP_p.M1L|COPS7B_ENST00000410017.1_Missense_Mutation_p.M108L|COPS7B_ENST00000409295.1_Missense_Mutation_p.M74L|COPS7B_ENST00000373608.3_Missense_Mutation_p.M108L	NM_001282949.1|NM_022730.1	NP_001269878.1|NP_073567.1	Q9H9Q2	CSN7B_HUMAN	COP9 signalosome subunit 7B	108	PCI.				cullin deneddylation (GO:0010388)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)	8		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GGCATCAAGAATGAAGGTACG	0.512																																																	0													160.0	124.0	136.0					2																	232659056		2203	4300	6503	SO:0001583	missense	0			AK022674	CCDS2488.1, CCDS63152.1, CCDS63153.1, CCDS63154.1, CCDS74668.1	2q37.1	2013-03-14	2013-03-14		ENSG00000144524	ENSG00000144524			16760	protein-coding gene	gene with protein product			"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 7B"", ""COP9 constitutive photomorphogenic homolog subunit 7B (Arabidopsis)"""			9707402	Standard	NM_001282950		Approved	CSN7B	uc002vsg.1	Q9H9Q2	OTTHUMG00000133228	ENST00000350033.3:c.322A>T	2.37:g.232659056A>T	ENSP00000272995:p.Met108Leu		Q53S22|Q5BJG3|Q9H7V6	Missense_Mutation	SNP	pfam_PCI_dom,smart_PCI_dom	p.M108L	ENST00000350033.3	37	c.322	CCDS2488.1	2	.	.	.	.	.	.	.	.	.	.	A	14.70	2.613976	0.46631	.	.	ENSG00000144524	ENST00000410024;ENST00000409295;ENST00000409091;ENST00000350033;ENST00000410017;ENST00000373608;ENST00000537799	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	6.17	6.17	0.99709	Proteasome component (PCI) domain (2);	0.042949	0.85682	D	0.000000	T	0.24160	0.0585	N	0.21373	0.66	0.50313	D	0.99986	B;B;B	0.13594	0.001;0.004;0.008	B;B;B	0.17433	0.003;0.018;0.012	T	0.04650	-1.0936	10	0.25106	T	0.35	-0.2698	16.8222	0.85835	1.0:0.0:0.0:0.0	.	108;108;108	Q53GQ2;Q9H9Q2-3;Q9H9Q2	.;.;CSN7B_HUMAN	L	108;74;1;108;108;108;1	ENSP00000386567:M108L;ENSP00000386438:M74L;ENSP00000272995:M108L;ENSP00000386880:M108L;ENSP00000362710:M108L	ENSP00000272995:M108L	M	+	1	0	COPS7B	232367300	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	6.711000	0.74675	2.371000	0.80710	0.533000	0.62120	ATG	COPS7B	-	pfam_PCI_dom,smart_PCI_dom	ENSG00000144524		0.512	COPS7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPS7B	HGNC	protein_coding	OTTHUMT00000256964.2	-	0.00	79	0	A	NM_022730		232659056	+1	tier1	-	no_errors	ENST00000350033	ensembl	human	known	74_37	missense	21.28	37	10	SNP	1.000	T
CORO7	79585	genome.wustl.edu	37	16	4414633	4414633	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr16:4414633C>T	ENST00000251166.4	-	13	1247	c.1102G>A	c.(1102-1104)Gac>Aac	p.D368N	CORO7_ENST00000423908.2_Missense_Mutation_p.D200N|CORO7_ENST00000539968.1_Missense_Mutation_p.D148N|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.D368N|CORO7_ENST00000574025.1_Missense_Mutation_p.D283N|CORO7_ENST00000537233.2_Missense_Mutation_p.D350N	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	368					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CTATGGGGGTCGGTGGCAGGC	0.687																																																	0													12.0	11.0	12.0					16																	4414633		2174	4266	6440	SO:0001583	missense	0			AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.1102G>A	16.37:g.4414633C>T	ENSP00000251166:p.Asp368Asn		B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP	pfam_DUF1900,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D368N	ENST00000251166.4	37	c.1102	CCDS10513.1	16	.	.	.	.	.	.	.	.	.	.	C	5.595	0.294597	0.10567	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968;ENST00000423908	T;T;T	0.29655	1.56;1.56;1.56	5.31	3.14	0.36123	Domain of unknown function DUF1900 (1);	0.969624	0.08501	N	0.936360	T	0.25531	0.0621	L	0.46614	1.455	0.09310	N	1	B;B;B;B;B;B	0.19331	0.035;0.009;0.011;0.009;0.009;0.011	B;B;B;B;B;B	0.13407	0.009;0.003;0.006;0.008;0.005;0.007	T	0.24333	-1.0163	10	0.48119	T	0.1	-15.5008	3.9969	0.09563	0.176:0.5275:0.0:0.2964	.	283;350;148;148;368;349	P57737-2;B4DFD6;B3KSY4;B3KUH7;P57737;B4DKU9	.;.;.;.;CORO7_HUMAN;.	N	368;283;148;200	ENSP00000251166:D368N;ENSP00000446221:D148N;ENSP00000391530:D200N	ENSP00000251166:D368N	D	-	1	0	CORO7	4354634	0.000000	0.05858	0.072000	0.20136	0.276000	0.26787	0.774000	0.26675	1.239000	0.43787	0.455000	0.32223	GAC	CORO7-PAM16	-	pfam_DUF1900	ENSG00000103426		0.687	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO7-PAM16	HGNC	protein_coding	OTTHUMT00000251628.2	-	0.00	44	0	C	NM_024535		4414633	-1	tier1	-	no_errors	ENST00000572467	ensembl	human	known	74_37	missense	19.23	21	5	SNP	0.003	T
CPB2	1361	genome.wustl.edu	37	13	46652979	46652979	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr13:46652979G>C	ENST00000181383.4	-	5	458	c.442C>G	c.(442-444)Cac>Gac	p.H148D	CPB2-AS1_ENST00000606243.1_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.H148D|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606351.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	148					blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		GATCCAATGTGGATTTTTGTA	0.393																																																	0													134.0	137.0	136.0					13																	46652979		2203	4300	6503	SO:0001583	missense	0			M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"""thrombin-activatable fibrinolysis inhibitor"", ""carboxypeptidase U"", ""plasma carboxypeptidase B"", ""carboxypeptidase R"""	603101	"""carboxypeptidase B2 (plasma, carboxypeptidase U)"""			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.442C>G	13.37:g.46652979G>C	ENSP00000181383:p.His148Asp		A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.H148D	ENST00000181383.4	37	c.442	CCDS9401.1	13	.	.	.	.	.	.	.	.	.	.	G	1.706	-0.500407	0.04291	.	.	ENSG00000080618	ENST00000181383;ENST00000439329	T;T	0.10005	2.92;2.92	5.17	3.4	0.38934	Peptidase M14, carboxypeptidase A (2);	0.215951	0.48286	D	0.000189	T	0.07413	0.0187	N	0.15975	0.35	0.33836	D	0.63086	P;B	0.39665	0.682;0.278	B;B	0.44133	0.281;0.442	T	0.34129	-0.9841	10	0.13108	T	0.6	.	9.1691	0.37069	0.1837:0.0:0.8163:0.0	.	148;148	Q96IY4-2;Q96IY4	.;CBPB2_HUMAN	D	148	ENSP00000181383:H148D;ENSP00000400714:H148D	ENSP00000181383:H148D	H	-	1	0	CPB2	45550980	1.000000	0.71417	0.999000	0.59377	0.224000	0.24922	3.193000	0.50997	0.657000	0.30906	0.462000	0.41574	CAC	CPB2	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000080618		0.393	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPB2	HGNC	protein_coding	OTTHUMT00000044803.2	-	0.00	36	0	G	NM_001872		46652979	-1	tier1	-	no_errors	ENST00000181383	ensembl	human	known	74_37	missense	22.22	28	8	SNP	1.000	C
CRYZL1	9946	genome.wustl.edu	37	21	35003857	35003857	+	Start_Codon_SNP	SNP	T	T	C			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr21:35003857T>C	ENST00000381554.3	-	2	86	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	CRYZL1_ENST00000381540.3_Start_Codon_SNP_p.M1V|CRYZL1_ENST00000413017.2_Start_Codon_SNP_p.M1V|CRYZL1_ENST00000445393.1_Start_Codon_SNP_p.M1V|CRYZL1_ENST00000290244.5_Start_Codon_SNP_p.M1V|CRYZL1_ENST00000361534.2_Missense_Mutation_p.M25V|AP000304.12_ENST00000429238.1_Intron	NM_145858.2	NP_665857.2	O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	1					quinone metabolic process (GO:1901661)	cytosol (GO:0005829)	NADP binding (GO:0050661)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270)			lung(1)|prostate(1)|urinary_tract(1)	3						AAGCCTTTCATAGTCACCtaa	0.269																																																	0													34.0	39.0	37.0					21																	35003857		2178	4262	6440	SO:0001582	initiator_codon_variant	0			AF029689	CCDS13633.2	21q22.1	2008-07-31			ENSG00000205758	ENSG00000205758			2420	protein-coding gene	gene with protein product	"""quinone reductase-like 1"""	603920				10191096	Standard	NM_145858		Approved	QOH-1, 4P11	uc021wio.1	O95825	OTTHUMG00000065954	ENST00000381554.3:c.1A>G	21.37:g.35003857T>C	ENSP00000370966:p.Met1Val		B2RDX1|B3KQ77|Q96DY0|Q9NVY7	Missense_Mutation	SNP	pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	p.M1V	ENST00000381554.3	37	c.1	CCDS13633.2	21	.	.	.	.	.	.	.	.	.	.	T	18.05	3.536691	0.65085	.	.	ENSG00000205758	ENST00000381554;ENST00000290244;ENST00000381540;ENST00000445393;ENST00000361534;ENST00000452332;ENST00000431177;ENST00000413017;ENST00000438788	T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.3	5.3	0.74995	GroES-like (1);	0.000000	0.85682	D	0.000000	T	0.67674	0.2918	.	.	.	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.78314	0.991;0.991;0.991	T	0.72033	-0.4412	9	0.87932	D	0	-7.9772	11.9198	0.52785	0.0:0.0:0.0:1.0	.	1;1;25	O95825;A6NND8;A6NHJ8	QORL1_HUMAN;.;.	V	1;1;1;1;25;1;1;1;1	ENSP00000370966:M1V;ENSP00000290244:M1V;ENSP00000370951:M1V;ENSP00000399730:M1V;ENSP00000355075:M25V;ENSP00000405510:M1V;ENSP00000389209:M1V	ENSP00000290244:M1V	M	-	1	0	CRYZL1	33925727	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	3.787000	0.55439	2.136000	0.66102	0.467000	0.42956	ATG	CRYZL1	-	superfamily_GroES-like	ENSG00000205758		0.269	CRYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYZL1	HGNC	protein_coding	OTTHUMT00000141282.2	-	0.00	46	0	T	NM_145858	Missense_Mutation	35003857	-1	tier1	-	no_errors	ENST00000381554	ensembl	human	known	74_37	missense	33.33	24	12	SNP	1.000	C
CSPG4	1464	genome.wustl.edu	37	15	75970175	75970175	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr15:75970175C>A	ENST00000308508.5	-	9	5095	c.5003G>T	c.(5002-5004)tGg>tTg	p.W1668L	AC105020.1_ENST00000435356.1_5'Flank|CTD-2026K11.1_ENST00000569467.1_RNA	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1668	Cysteine-containing.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ATGGGCCTCCCAAAAGGGCTC	0.622																																																	0													48.0	50.0	49.0					15																	75970175		2196	4294	6490	SO:0001583	missense	0			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.5003G>T	15.37:g.75970175C>A	ENSP00000312506:p.Trp1668Leu		D3DW77|Q92675	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	p.W1668L	ENST00000308508.5	37	c.5003	CCDS10284.1	15	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600777	0.87055	.	.	ENSG00000173546	ENST00000308508	T	0.20881	2.04	4.87	4.87	0.63330	.	0.000000	0.64402	D	0.000018	T	0.49830	0.1580	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.55560	-0.8122	10	0.62326	D	0.03	.	16.6339	0.85041	0.0:1.0:0.0:0.0	.	1668	Q6UVK1	CSPG4_HUMAN	L	1668	ENSP00000312506:W1668L	ENSP00000312506:W1668L	W	-	2	0	CSPG4	73757230	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.087000	0.76893	2.267000	0.75376	0.485000	0.47835	TGG	CSPG4	-	NULL	ENSG00000173546		0.622	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG4	HGNC	protein_coding	OTTHUMT00000286472.1	-	0.00	66	0	C	NM_001897		75970175	-1	tier1	-	no_errors	ENST00000308508	ensembl	human	known	74_37	missense	16.67	30	6	SNP	1.000	A
DHRS2	10202	genome.wustl.edu	37	14	24111042	24111043	+	Intron	INS	-	-	A			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr14:24111042_24111043insA	ENST00000250383.6	+	5	896				DHRS2_ENST00000344777.7_Intron|DHRS2_ENST00000553896.1_3'UTR	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2						C21-steroid hormone metabolic process (GO:0008207)|cellular response to oxidative stress (GO:0034599)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	carbonyl reductase (NADPH) activity (GO:0004090)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		TTGGGGGGTGGAAAAAACAGTG	0.5																																																	0																																										SO:0001627	intron_variant	0				CCDS9604.1, CCDS41927.1	14q11.2	2011-09-14			ENSG00000100867	ENSG00000100867		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18349	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 1"""	615194				7556196, 11944995, 16685466, 19027726	Standard	NM_182908		Approved	HEP27, SDR25C1	uc001wkt.4	Q13268	OTTHUMG00000028771	ENST00000250383.6:c.421-1318->A	14.37:g.24111048_24111048dupA			D3DS54|Q53GS4|Q7Z789|Q9H2R2	RNA	INS	-	NULL	ENST00000250383.6	37	NULL	CCDS9604.1	14																																																																																			DHRS2	-	-	ENSG00000100867		0.500	DHRS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DHRS2	HGNC	protein_coding	OTTHUMT00000071842.2		0.00	32	0	-	NM_182908		24111043	+1	tier1		no_errors	ENST00000553896	ensembl	human	known	74_37	rna	15.38	11	2	INS	0.001:0.001	A
DHX15	1665	genome.wustl.edu	37	4	24531252	24531252	+	Silent	SNP	G	G	T			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr4:24531252G>T	ENST00000336812.4	-	13	2398	c.2242C>A	c.(2242-2244)Cgg>Agg	p.R748R	DHX15_ENST00000508032.1_5'UTR	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	748					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				GTACATGTCCGGATGTAATTC	0.388																																																	0													156.0	140.0	145.0					4																	24531252		2203	4300	6503	SO:0001819	synonymous_variant	0			AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"""DEAH-boxes"""	2738	protein-coding gene	gene with protein product		603403	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 15"""	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.2242C>A	4.37:g.24531252G>T			Q9NQT7	Silent	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R748	ENST00000336812.4	37	c.2242	CCDS33966.1	4																																																																																			DHX15	-	pfam_DUF1605	ENSG00000109606		0.388	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX15	HGNC	protein_coding	OTTHUMT00000360143.1	-	0.00	68	0	G	NM_001358		24531252	-1	tier1	-	no_errors	ENST00000336812	ensembl	human	known	74_37	silent	5.71	66	4	SNP	1.000	T
DLL3	10683	genome.wustl.edu	37	19	39994766	39994766	+	Silent	SNP	A	A	G			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr19:39994766A>G	ENST00000205143.4	+	5	715	c.708A>G	c.(706-708)gaA>gaG	p.E236E	DLL3_ENST00000356433.5_Silent_p.E236E	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	236	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				compartment pattern specification (GO:0007386)|negative regulation of neurogenesis (GO:0050768)|Notch signaling pathway (GO:0007219)|paraxial mesoderm development (GO:0048339)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)	integral component of membrane (GO:0016021)	Notch binding (GO:0005112)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGCCCGGTGAATGCCGATGCC	0.642																																																	0													74.0	71.0	72.0					19																	39994766		2203	4300	6503	SO:0001819	synonymous_variant	0			AF241373	CCDS12537.1, CCDS12538.1	19q13.2	2008-05-14	2001-12-03			ENSG00000090932			2909	protein-coding gene	gene with protein product		602768	"""delta (Drosophila)-like 3"""			10364530, 10742114	Standard	NM_203486		Approved	SCDO1	uc002olx.2	Q9NYJ7		ENST00000205143.4:c.708A>G	19.37:g.39994766A>G			E9PFG2|Q8NBS4	Silent	SNP	pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.E236	ENST00000205143.4	37	c.708	CCDS12538.1	19																																																																																			DLL3	-	pfam_EGF_extracell,smart_EG-like_dom	ENSG00000090932		0.642	DLL3-002	KNOWN	basic|CCDS	protein_coding	DLL3	HGNC	protein_coding	OTTHUMT00000464958.1	-	0.00	53	0	A			39994766	+1	tier1	-	no_errors	ENST00000205143	ensembl	human	known	74_37	silent	15.62	27	5	SNP	0.934	G
DNAH10	196385	genome.wustl.edu	37	12	124352662	124352662	+	Silent	SNP	G	G	T			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr12:124352662G>T	ENST00000409039.3	+	42	7186	c.7161G>T	c.(7159-7161)ctG>ctT	p.L2387L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2387					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTGGGGAACTGCCAGGTGGGA	0.458																																																	0													37.0	38.0	38.0					12																	124352662		1872	4111	5983	SO:0001819	synonymous_variant	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.7161G>T	12.37:g.124352662G>T			C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.L2387	ENST00000409039.3	37	c.7161	CCDS9255.2	12																																																																																			DNAH10	-	NULL	ENSG00000197653		0.458	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3		0.00	68	0	G			124352662	+1			no_errors	ENST00000409039	ensembl	human	known	74_37	silent	7.89	35	3	SNP	0.984	T
DNAJA2	10294	genome.wustl.edu	37	16	46992949	46992949	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr16:46992949G>T	ENST00000317089.5	-	8	1228	c.1013C>A	c.(1012-1014)cCt>cAt	p.P338H		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	338					positive regulation of cell proliferation (GO:0008284)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				GTTGTTTTCAGGAAACTGCAC	0.383																																																	0													90.0	86.0	87.0					16																	46992949		2203	4300	6503	SO:0001583	missense	0			AF116720	CCDS10726.1	16q12.1	2011-09-02			ENSG00000069345	ENSG00000069345		"""Heat shock proteins / DNAJ (HSP40)"""	14884	protein-coding gene	gene with protein product		611322				9710638, 11147971	Standard	NM_005880		Approved	HIRIP4, DNAJ, CPR3, DNJ3	uc002eeo.2	O60884	OTTHUMG00000133104	ENST00000317089.5:c.1013C>A	16.37:g.46992949G>T	ENSP00000314030:p.Pro338His		B2R7L7|O14711	Missense_Mutation	SNP	pfam_DnaJ_C,pfam_DnaJ_domain,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain	p.P338H	ENST00000317089.5	37	c.1013	CCDS10726.1	16	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956822	0.73902	.	.	ENSG00000069345	ENST00000317089	T	0.70045	-0.45	5.73	5.73	0.89815	Chaperone DnaJ, C-terminal (1);HSP40/DnaJ peptide-binding (1);	0.105435	0.64402	D	0.000002	D	0.90397	0.6994	H	0.99600	4.65	0.80722	D	1	D	0.69078	0.997	D	0.69142	0.962	D	0.94213	0.7460	10	0.87932	D	0	-24.9779	19.9704	0.97284	0.0:0.0:1.0:0.0	.	338	O60884	DNJA2_HUMAN	H	338	ENSP00000314030:P338H	ENSP00000314030:P338H	P	-	2	0	DNAJA2	45550450	1.000000	0.71417	1.000000	0.80357	0.291000	0.27294	9.865000	0.99609	2.722000	0.93159	0.650000	0.86243	CCT	DNAJA2	-	pfam_DnaJ_C,superfamily_HSP40/DnaJ_pept-bd	ENSG00000069345		0.383	DNAJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJA2	HGNC	protein_coding	OTTHUMT00000256769.2		0.00	37	0	G			46992949	-1			no_errors	ENST00000317089	ensembl	human	known	74_37	missense	15.38	11	2	SNP	1.000	T
DOK4	55715	genome.wustl.edu	37	16	57507333	57507333	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr16:57507333G>T	ENST00000340099.4	-	9	1308	c.937C>A	c.(937-939)Ccc>Acc	p.P313T	DOK4_ENST00000566936.1_Missense_Mutation_p.P352T|DOK4_ENST00000561918.1_5'Flank|DOK4_ENST00000569548.1_Missense_Mutation_p.P313T	NM_018110.3	NP_060580.2	Q8TEW6	DOK4_HUMAN	docking protein 4	313					MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						CCCTGGCTGGGCTTTGGCTTT	0.632																																																	0													117.0	93.0	101.0					16																	57507333		2198	4300	6498	SO:0001583	missense	0			BC003541	CCDS10783.1	16q13	2013-01-10			ENSG00000125170	ENSG00000125170		"""Pleckstrin homology (PH) domain containing"""	19868	protein-coding gene	gene with protein product		608333				10493829	Standard	NM_018110		Approved	FLJ10488	uc002elv.4	Q8TEW6	OTTHUMG00000133460	ENST00000340099.4:c.937C>A	16.37:g.57507333G>T	ENSP00000344277:p.Pro313Thr		O75209|Q9BTP2|Q9NVV3	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.P313T	ENST00000340099.4	37	c.937	CCDS10783.1	16	.	.	.	.	.	.	.	.	.	.	G	9.028	0.986683	0.18889	.	.	ENSG00000125170	ENST00000340099	D	0.91686	-2.89	5.4	-6.13	0.02118	.	0.724125	0.12306	N	0.480700	T	0.82001	0.4942	N	0.25647	0.755	0.21147	N	0.999775	B	0.13594	0.008	B	0.08055	0.003	T	0.66248	-0.5971	10	0.35671	T	0.21	-2.6358	8.3639	0.32374	0.4938:0.195:0.3112:0.0	.	313	Q8TEW6	DOK4_HUMAN	T	313	ENSP00000344277:P313T	ENSP00000344277:P313T	P	-	1	0	DOK4	56064834	0.984000	0.35163	0.876000	0.34364	0.993000	0.82548	0.027000	0.13621	-0.891000	0.03940	-0.136000	0.14681	CCC	DOK4	-	NULL	ENSG00000125170		0.632	DOK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOK4	HGNC	protein_coding	OTTHUMT00000257335.3		0.00	91	0	G			57507333	-1			no_errors	ENST00000340099	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.009	T
DPF3	8110	genome.wustl.edu	37	14	73181155	73181155	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr14:73181155delG	ENST00000556509.1	-	6	579	c.580delC	c.(580-582)cacfs	p.H194fs	DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000546183.1_Frame_Shift_Del_p.H204fs|DPF3_ENST00000541685.1_Frame_Shift_Del_p.H194fs	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	194					chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GGTTTGTCGTGGTCTTCCTGA	0.622																																																	0													91.0	105.0	101.0					14																	73181155		2099	4206	6305	SO:0001589	frameshift_variant	0			U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"""Zinc fingers, PHD-type"""	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.580delC	14.37:g.73181155delG	ENSP00000450518:p.His194fs		A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Frame_Shift_Del	DEL	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H249fs	ENST00000556509.1	37	c.745		14																																																																																			DPF3	-	NULL	ENSG00000205683		0.622	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	DPF3	HGNC	protein_coding	OTTHUMT00000413152.2		0.00	51	0	G			73181155	-1	tier1		no_errors	ENST00000366353	ensembl	human	known	74_37	frame_shift_del	11.76	15	2	DEL	0.998	-
MYO1E	4643	genome.wustl.edu	37	15	59443246	59443246	+	Intron	SNP	A	A	G			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr15:59443246A>G	ENST00000288235.4	-	26	3480				AC092757.1_ENST00000408169.1_RNA	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE						actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		acacacacacacacGCGCGCG	0.542																																																	0																																										SO:0001627	intron_variant	0			U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.3080+2542T>C	15.37:g.59443246A>G			Q14778	RNA	SNP	-	NULL	ENST00000288235.4	37	NULL	CCDS32254.1	15																																																																																			AC092757.1	-	-	ENSG00000221096		0.542	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000221096	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000416024.1	-	0.00	19	0	A	NM_004998		59443246	-1	tier1	-	no_errors	ENST00000408169	ensembl	human	novel	74_37	rna	46.15	7	6	SNP	0.001	G
RP11-451O13.1	0	genome.wustl.edu	37	1	157899339	157899339	+	RNA	SNP	G	G	A	rs189731624		TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr1:157899339G>A	ENST00000452528.1	+	0	90																											ACCAAAGTCCGTTTGATTAAT	0.488																																																	0																																												0																															1.37:g.157899339G>A				RNA	SNP	-	NULL	ENST00000452528.1	37	NULL		1																																																																																			RP11-451O13.1	-	-	ENSG00000236957		0.488	RP11-451O13.1-002	KNOWN	basic	processed_transcript	ENSG00000236957	Clone_based_vega_gene	pseudogene	OTTHUMT00000432264.1		0.00	66	0	G			157899339	+1			no_errors	ENST00000422062	ensembl	human	known	74_37	rna	8.11	34	3	SNP	0.002	A
RP11-77P16.4	0	genome.wustl.edu	37	3	129838380	129838383	+	lincRNA	DEL	AGAA	AGAA	-	rs2624642|rs113139497	byFrequency	TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	AGAA	AGAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr3:129838380_129838383delAGAA	ENST00000504808.2	+	0	566_569																											catcagagagagaaagagagaCCG	0.559														1520	0.303514	0.2035	0.3559	5008	,	,		16899	0.244		0.4115	False		,,,				2504	0.3517																0																																												0																															3.37:g.129838380_129838383delAGAA				RNA	DEL	-	NULL	ENST00000504808.2	37	NULL		3																																																																																			RP11-77P16.4	-	-	ENSG00000249846		0.559	RP11-77P16.4-003	KNOWN	basic|exp_conf	lincRNA	ENSG00000249846	Clone_based_vega_gene	lincRNA	OTTHUMT00000358310.2		0.00	15	0	AGAA			129838383	+1	tier1		no_errors	ENST00000504808	ensembl	human	known	74_37	rna	57.14	3	4	DEL	0.016:0.012:0.011:0.011	-
ERN2	10595	genome.wustl.edu	37	16	23707240	23707240	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr16:23707240C>T	ENST00000457008.2	-	13	1467	c.1429G>A	c.(1429-1431)Ggg>Agg	p.G477R	ERN2_ENST00000256797.4_Missense_Mutation_p.G577R					endoplasmic reticulum to nucleus signaling 2									p.G577W(1)		large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CCGCCTGCCCCGCGGCCCAGC	0.632																																																	1	Substitution - Missense(1)	lung(1)											39.0	38.0	39.0					16																	23707240		2197	4300	6497	SO:0001583	missense	0			AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.1429G>A	16.37:g.23707240C>T	ENSP00000413812:p.Gly477Arg			Missense_Mutation	SNP	pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom	p.G577R	ENST00000457008.2	37	c.1729		16	.	.	.	.	.	.	.	.	.	.	C	33	5.216532	0.95104	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	D;D	0.96365	-3.99;-3.99	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.99055	0.9676	H	0.98918	4.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99100	1.0843	10	0.87932	D	0	.	17.8792	0.88835	0.0:1.0:0.0:0.0	.	477;529	E7ETG2;A5YM65	.;.	R	577;477	ENSP00000256797:G577R;ENSP00000413812:G477R	ENSP00000256797:G577R	G	-	1	0	ERN2	23614741	1.000000	0.71417	0.994000	0.49952	0.963000	0.63663	6.986000	0.76200	2.825000	0.97269	0.655000	0.94253	GGG	ERN2	-	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	ENSG00000134398		0.632	ERN2-002	NOVEL	basic|exp_conf	protein_coding	ERN2	HGNC	protein_coding	OTTHUMT00000434886.1	-	0.00	87	0	C			23707240	-1	tier1	-	no_errors	ENST00000256797	ensembl	human	known	74_37	missense	25.81	46	16	SNP	0.999	T
FAM124B	79843	genome.wustl.edu	37	2	225265849	225265849	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr2:225265849C>A	ENST00000409685.3	-	1	902	c.637G>T	c.(637-639)Ggc>Tgc	p.G213C	FAM124B_ENST00000389874.3_Missense_Mutation_p.G213C|FAM124B_ENST00000243806.2_Missense_Mutation_p.G213C	NM_001122779.1	NP_001116251.1	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	213										endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		ACTAACTGGCCGATCTCTTGA	0.537																																																	0													73.0	65.0	68.0					2																	225265849		2203	4300	6503	SO:0001583	missense	0			AK075126	CCDS2461.1, CCDS46527.1	2q36.2	2008-02-05			ENSG00000124019	ENSG00000124019			26224	protein-coding gene	gene with protein product						12477932	Standard	NM_001122779		Approved	FLJ22746	uc002vnx.3	Q9H5Z6	OTTHUMG00000133168	ENST00000409685.3:c.637G>T	2.37:g.225265849C>A	ENSP00000386895:p.Gly213Cys		A6NNC7|Q8NBZ4|Q8TAV7	Missense_Mutation	SNP	NULL	p.G213C	ENST00000409685.3	37	c.637	CCDS46527.1	2	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934441	0.92458	.	.	ENSG00000124019	ENST00000389874;ENST00000409685;ENST00000243806	T;T;T	0.59364	0.27;0.27;0.27	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.79678	0.4487	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81953	-0.0697	10	0.87932	D	0	-28.3372	19.7174	0.96129	0.0:1.0:0.0:0.0	.	213;213	Q9H5Z6;Q9H5Z6-2	F124B_HUMAN;.	C	213	ENSP00000374524:G213C;ENSP00000386895:G213C;ENSP00000243806:G213C	ENSP00000243806:G213C	G	-	1	0	FAM124B	224974093	1.000000	0.71417	0.990000	0.47175	0.877000	0.50540	7.487000	0.81328	2.653000	0.90120	0.655000	0.94253	GGC	FAM124B	-	NULL	ENSG00000124019		0.537	FAM124B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM124B	HGNC	protein_coding	OTTHUMT00000330873.1	-	0.00	45	0	C	NM_024785		225265849	-1	tier1	-	no_errors	ENST00000409685	ensembl	human	known	74_37	missense	17.14	29	6	SNP	1.000	A
FHOD3	80206	genome.wustl.edu	37	18	34092450	34092450	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr18:34092450G>T	ENST00000359247.4	+	5	455	c.455G>T	c.(454-456)tGt>tTt	p.C152F	FHOD3_ENST00000445677.1_Missense_Mutation_p.C152F|FHOD3_ENST00000257209.4_Missense_Mutation_p.C152F|FHOD3_ENST00000590592.1_Missense_Mutation_p.C152F	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	152	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GGTCTGACATGTTTGATCAAG	0.478																																																	0													143.0	124.0	130.0					18																	34092450		2203	4300	6503	SO:0001583	missense	0			AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.455G>T	18.37:g.34092450G>T	ENSP00000352186:p.Cys152Phe		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin	p.C152F	ENST00000359247.4	37	c.455		18	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518215	0.85495	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.24908	1.83;1.83;1.83	6.17	6.17	0.99709	GTPase-binding/formin homology 3 (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56337	0.1978	M	0.80616	2.505	0.58432	D	0.999995	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.99;0.999;0.989	T	0.56944	-0.7895	10	0.87932	D	0	.	18.3732	0.90420	0.0:0.0:1.0:0.0	.	152;152;152	Q2V2M9;Q2V2M9-3;E5F5Q0	FHOD3_HUMAN;.;.	F	152	ENSP00000257209:C152F;ENSP00000352186:C152F;ENSP00000411430:C152F	ENSP00000257209:C152F	C	+	2	0	FHOD3	32346448	1.000000	0.71417	0.992000	0.48379	0.936000	0.57629	9.405000	0.97313	2.941000	0.99782	0.655000	0.94253	TGT	FHOD3	-	superfamily_ARM-type_fold	ENSG00000134775		0.478	FHOD3-001	PUTATIVE	basic	protein_coding	FHOD3	HGNC	protein_coding	OTTHUMT00000460884.1	-	0.00	87	0	G	XM_371114		34092450	+1	tier1	-	no_errors	ENST00000257209	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T
FMN2	56776	genome.wustl.edu	37	1	240255442	240255442	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr1:240255442C>A	ENST00000319653.9	+	1	263	c.33C>A	c.(31-33)agC>agA	p.S11R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	11					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.S154R(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGAAGAGGAGCGCAGGTGATG	0.701																																																	1	Substitution - Missense(1)	kidney(1)											6.0	7.0	7.0					1																	240255442		2063	4058	6121	SO:0001583	missense	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.33C>A	1.37:g.240255442C>A	ENSP00000318884:p.Ser11Arg		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.S11R	ENST00000319653.9	37	c.33	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.313517	0.23908	.	.	ENSG00000155816	ENST00000319653	T	0.27402	1.67	3.88	2.95	0.34219	.	0.253757	0.33591	N	0.004741	T	0.19765	0.0475	L	0.51422	1.61	0.80722	D	1	P	0.35844	0.524	B	0.27608	0.081	T	0.08554	-1.0716	10	0.51188	T	0.08	.	2.6227	0.04921	0.2491:0.514:0.0:0.2369	.	11	Q9NZ56	FMN2_HUMAN	R	11	ENSP00000318884:S11R	ENSP00000318884:S11R	S	+	3	2	FMN2	238322065	0.882000	0.30256	1.000000	0.80357	0.910000	0.53928	0.587000	0.23909	0.944000	0.37579	0.313000	0.20887	AGC	FMN2	-	NULL	ENSG00000155816		0.701	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	-	0.00	53	0	C	XM_371352		240255442	+1	tier1	-	no_errors	ENST00000319653	ensembl	human	known	74_37	missense	28.57	15	6	SNP	0.999	A
GGT5	2687	genome.wustl.edu	37	22	24622685	24622685	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr22:24622685C>T	ENST00000327365.4	-	7	1368	c.952G>A	c.(952-954)Gtg>Atg	p.V318M	GGT5_ENST00000398292.3_Missense_Mutation_p.V318M|GGT5_ENST00000263112.7_Missense_Mutation_p.V286M|GGT5_ENST00000418439.2_Missense_Mutation_p.V241M	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	318					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						TGGTGGTACACGTTCACCCTC	0.587																																																	0													142.0	124.0	130.0					22																	24622685		2203	4300	6503	SO:0001583	missense	0			M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"""Gamma-glutamyltransferases"""	4260	protein-coding gene	gene with protein product		137168	"""gamma-glutamyltransferase-like activity 1"""	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.952G>A	22.37:g.24622685C>T	ENSP00000330080:p.Val318Met		Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Missense_Mutation	SNP	pfam_GGT_peptidase,prints_GGT_peptidase	p.V318M	ENST00000327365.4	37	c.952	CCDS13825.1	22	.	.	.	.	.	.	.	.	.	.	C	2.513	-0.312507	0.05422	.	.	ENSG00000099998	ENST00000327365;ENST00000263112;ENST00000438024;ENST00000398292;ENST00000418439	T;T;T;T	0.06608	3.28;3.28;3.28;3.28	3.19	-4.33	0.03677	.	0.418027	0.25411	N	0.030877	T	0.01835	0.0058	N	0.03608	-0.345	0.20307	N	0.999918	B;B;B;B;B	0.29886	0.26;0.001;0.001;0.007;0.001	B;B;B;B;B	0.22152	0.038;0.004;0.013;0.028;0.013	T	0.39078	-0.9631	10	0.32370	T	0.25	-11.4797	5.0089	0.14302	0.1594:0.3931:0.0:0.4476	.	241;286;318;318;318	E7EUG3;P36269-2;Q53XM9;Q6GMP0;P36269	.;.;.;.;GGT5_HUMAN	M	318;286;233;318;241	ENSP00000330080:V318M;ENSP00000263112:V286M;ENSP00000381340:V318M;ENSP00000392146:V241M	ENSP00000263112:V286M	V	-	1	0	GGT5	22952685	0.013000	0.17824	0.463000	0.27130	0.321000	0.28281	-0.071000	0.11505	-1.198000	0.02669	-1.462000	0.01023	GTG	GGT5	-	pfam_GGT_peptidase	ENSG00000099998		0.587	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GGT5	HGNC	protein_coding	OTTHUMT00000320119.1	-	0.00	79	0	C	NM_004121		24622685	-1	tier1	-	no_errors	ENST00000398292	ensembl	human	known	74_37	missense	40.43	28	19	SNP	0.766	T
GOLGA8H	728498	genome.wustl.edu	37	15	30906600	30906600	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr15:30906600G>C	ENST00000566740.1	+	19	1735	c.1735G>C	c.(1735-1737)Gtg>Ctg	p.V579L	RP11-932O9.9_ENST00000602594.1_lincRNA|RN7SL628P_ENST00000473920.2_RNA|RP11-932O9.7_ENST00000501830.2_RNA|AC026150.1_ENST00000408431.1_RNA			P0CJ92	GOG8H_HUMAN	golgin A8 family, member H	579						Golgi apparatus (GO:0005794)											TCTTTGTGAGGTGAGCCTCAC	0.622																																																	0																																										SO:0001583	missense	0				CCDS61576.1	15q13.2	2012-10-05			ENSG00000261794	ENSG00000261794			37443	protein-coding gene	gene with protein product	"""golgi autoantigen, golgin subfamily a, 6-like 11"""						Standard	NM_001282490		Approved	GOLGA6L11		P0CJ92	OTTHUMG00000175654	ENST00000566740.1:c.1735G>C	15.37:g.30906600G>C	ENSP00000456894:p.Val579Leu			Missense_Mutation	SNP	NULL	p.V579L	ENST00000566740.1	37	c.1735		15																																																																																			GOLGA8H	-	NULL	ENSG00000261794		0.622	GOLGA8H-001	NOVEL	basic|appris_principal	protein_coding	GOLGA8H	HGNC	protein_coding	OTTHUMT00000430724.1	-	0.00	54	0	G	XM_001724395		30906600	+1	tier1	-	no_errors	ENST00000566740	ensembl	human	novel	74_37	missense	34.62	17	9	SNP	0.912	C
GVINP1	387751	genome.wustl.edu	37	11	6740462	6740462	+	RNA	SNP	G	G	C	rs10839604	byFrequency	TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr11:6740462G>C	ENST00000526769.3	-	0	2742					NR_003945.1		Q7Z2Y8	GVIN1_HUMAN	GTPase, very large interferon inducible pseudogene 1							cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										ACGTCTTATAGATGAGATGGA	0.423													G|||	828	0.165335	0.0779	0.3631	5008	,	,		20534	0.2331		0.1203	False		,,,				2504	0.1196																0																																												0			BX538318		11p15.4	2014-03-18	2010-09-28	2010-09-28	ENSG00000254838	ENSG00000254838			25813	pseudogene	pseudogene	"""very large inducible GTPase 1"""		"""GTPase, very large interferon inducible 1"", ""GTPase, very large interferon inducible 1, pseudogene"""	GVIN1, GVIN1P		12874213, 19369598	Standard	NR_003945		Approved	VLIG-1, FLJ13373, VLIG1	uc001meo.4	Q7Z2Y8	OTTHUMG00000165506		11.37:g.6740462G>C			A6NFL2|Q9H8N5	RNA	SNP	-	NULL	ENST00000526769.3	37	NULL		11																																																																																			GVINP1	-	-	ENSG00000254838		0.423	GVINP1-002	KNOWN	basic|exp_conf	processed_transcript	GVINP1	HGNC	pseudogene	OTTHUMT00000386960.3		0.00	81	0	G	NR_003945		6740462	-1			no_errors	ENST00000526769	ensembl	human	known	74_37	rna	6.52	43	3	SNP	0.006	C
HMCN1	83872	genome.wustl.edu	37	1	185950197	185950197	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr1:185950197C>A	ENST00000271588.4	+	17	2883	c.2654C>A	c.(2653-2655)aCc>aAc	p.T885N	HMCN1_ENST00000367492.2_Missense_Mutation_p.T885N|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	885					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTAACAGTGACCGGACTTGGT	0.378																																																	0													131.0	133.0	132.0					1																	185950197		2203	4300	6503	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.2654C>A	1.37:g.185950197C>A	ENSP00000271588:p.Thr885Asn		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.T885N	ENST00000271588.4	37	c.2654	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974231	0.74246	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.30182	1.54;1.54	5.72	5.72	0.89469	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.50000	0.1590	L	0.49778	1.585	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.73380	0.921;0.98	T	0.17319	-1.0373	10	0.18710	T	0.47	.	19.869	0.96843	0.0:1.0:0.0:0.0	.	269;885	Q96RW7-3;Q96RW7	.;HMCN1_HUMAN	N	885	ENSP00000271588:T885N;ENSP00000356462:T885N	ENSP00000271588:T885N	T	+	2	0	HMCN1	184216820	1.000000	0.71417	1.000000	0.80357	0.467000	0.32768	7.294000	0.78760	2.709000	0.92574	0.591000	0.81541	ACC	HMCN1	-	smart_Ig_sub	ENSG00000143341		0.378	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0.00	33	0	C	NM_031935		185950197	+1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	missense	25.64	29	10	SNP	1.000	A
HSPA1L	3305	genome.wustl.edu	37	6	31778675	31778675	+	Missense_Mutation	SNP	G	G	A	rs529670905		TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr6:31778675G>A	ENST00000375654.4	-	2	1264	c.1075C>T	c.(1075-1077)Cgt>Tgt	p.R359C	HSPA1L_ENST00000417199.3_Missense_Mutation_p.R359C	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	359					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TTGAGATCACGTCCATTGAAG	0.527																																																	0													65.0	61.0	62.0					6																	31778675		2203	4300	6503	SO:0001583	missense	0			D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.1075C>T	6.37:g.31778675G>A	ENSP00000364805:p.Arg359Cys		A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.R359C	ENST00000375654.4	37	c.1075	CCDS34413.1	6	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822052	0.50739	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653	T;T	0.01165	5.24;5.24	5.4	3.49	0.39957	.	0.231889	0.22372	N	0.060940	T	0.03263	0.0095	M	0.90759	3.145	0.48696	D	0.999698	D	0.76494	0.999	D	0.66351	0.943	T	0.06197	-1.0840	10	0.87932	D	0	-7.3322	6.1005	0.20045	0.0927:0.0:0.6415:0.2658	.	359	P34931	HS71L_HUMAN	C	359;359;304	ENSP00000364805:R359C;ENSP00000387691:R359C	ENSP00000364804:R304C	R	-	1	0	HSPA1L	31886654	0.941000	0.31946	0.674000	0.29902	0.959000	0.62525	4.433000	0.59929	1.522000	0.49001	-0.237000	0.12165	CGT	HSPA1L	-	pfam_Hsp_70_fam,pfam_MreB_Mrl	ENSG00000204390		0.527	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA1L	HGNC	protein_coding	OTTHUMT00000076416.2	-	0.00	104	0	G			31778675	-1	tier1	-	no_errors	ENST00000375654	ensembl	human	known	74_37	missense	21.67	47	13	SNP	0.998	A
IQSEC3	440073	genome.wustl.edu	37	12	247762	247762	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr12:247762delG	ENST00000538872.1	+	4	1351	c.1233delG	c.(1231-1233)aagfs	p.K411fs	IQSEC3_ENST00000326261.4_Frame_Shift_Del_p.K411fs|IQSEC3_ENST00000382841.2_Frame_Shift_Del_p.K108fs|RP11-598F7.4_ENST00000505893.2_RNA|RP11-598F7.4_ENST00000508953.2_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	411					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CCCTGGCCAAGTCCATCGACG	0.697																																																	0													26.0	22.0	23.0					12																	247762		2198	4300	6498	SO:0001589	frameshift_variant	0			AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.1233delG	12.37:g.247762delG	ENSP00000437554:p.Lys411fs		A6NIF2|A6NKV9|Q8TB43	Frame_Shift_Del	DEL	pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom	p.K411fs	ENST00000538872.1	37	c.1233	CCDS53728.1	12																																																																																			IQSEC3	-	NULL	ENSG00000120645		0.697	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IQSEC3	HGNC	protein_coding	OTTHUMT00000397382.3		0.00	37	0	G	XM_495902		247762	+1	tier1		no_errors	ENST00000326261	ensembl	human	known	74_37	frame_shift_del	18.18	9	2	DEL	1.000	-
KRBA1	84626	genome.wustl.edu	37	7	149420836	149420836	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr7:149420836G>A	ENST00000485033.2	+	7	784	c.784G>A	c.(784-786)Gcg>Acg	p.A262T	KRBA1_ENST00000319551.8_Missense_Mutation_p.A262T|KRBA1_ENST00000255992.10_Missense_Mutation_p.A262T|KRBA1_ENST00000479560.1_3'UTR			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	262										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GAAGACCGAGGCGGTTTCAGG	0.557																																																	0													49.0	54.0	52.0					7																	149420836		1951	4134	6085	SO:0001583	missense	0			AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.784G>A	7.37:g.149420836G>A	ENSP00000420112:p.Ala262Thr		A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Missense_Mutation	SNP	NULL	p.A262T	ENST00000485033.2	37	c.784		7	.	.	.	.	.	.	.	.	.	.	G	19.48	3.836286	0.71373	.	.	ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033	T;T;T	0.41758	1.02;0.99;0.99	5.26	-0.553	0.11815	.	0.560412	0.15045	N	0.283636	T	0.25680	0.0625	L	0.34521	1.04	0.09310	N	1	B	0.19331	0.035	B	0.16289	0.015	T	0.13282	-1.0515	10	0.39692	T	0.17	-2.7739	4.9248	0.13887	0.3636:0.0:0.4933:0.1431	.	262	A5PL33	KRBA1_HUMAN	T	262	ENSP00000255992:A262T;ENSP00000317165:A262T;ENSP00000420112:A262T	ENSP00000255992:A262T	A	+	1	0	KRBA1	149051769	0.054000	0.20591	0.096000	0.21009	0.525000	0.34531	-0.031000	0.12287	-0.029000	0.13827	0.655000	0.94253	GCG	KRBA1	-	NULL	ENSG00000133619		0.557	KRBA1-004	PUTATIVE	basic	protein_coding	KRBA1	HGNC	protein_coding	OTTHUMT00000349841.3	-	0.00	230	0	G	NM_032534		149420836	+1	tier1	-	no_errors	ENST00000255992	ensembl	human	known	74_37	missense	24.86	136	45	SNP	0.013	A
KRT16P2	400578	genome.wustl.edu	37	17	16735593	16735593	+	RNA	SNP	G	G	T			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr17:16735593G>T	ENST00000579062.1	-	0	295									keratin 16 pseudogene 2																		GATCTCACTGGGCCGCTGCCT	0.592																																																	0																																												0					17p11.2	2010-02-25			ENSG00000227300	ENSG00000227300			37807	pseudogene	pseudogene							Standard	NR_029392		Approved		uc010vwr.1		OTTHUMG00000059177		17.37:g.16735593G>T				RNA	SNP	-	NULL	ENST00000579062.1	37	NULL		17																																																																																			KRT16P2	-	-	ENSG00000227300		0.592	KRT16P2-002	KNOWN	basic	processed_transcript	KRT16P2	HGNC	pseudogene	OTTHUMT00000444288.2	-	0.00	152	0	G	NR_029392		16735593	-1	tier1	-	no_errors	ENST00000579062	ensembl	human	known	74_37	rna	20.39	82	21	SNP	0.432	T
LEMD3	23592	genome.wustl.edu	37	12	65634751	65634751	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr12:65634751T>C	ENST00000308330.2	+	9	2215	c.2189T>C	c.(2188-2190)gTt>gCt	p.V730A		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	730	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		GAGTCTAGAGTTCGCACGGAA	0.398																																																	0													146.0	133.0	137.0					12																	65634751		2203	4300	6503	SO:0001583	missense	0			AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.2189T>C	12.37:g.65634751T>C	ENSP00000308369:p.Val730Ala		Q9NT47|Q9NYA5	Missense_Mutation	SNP	pfam_Inner-Nucl-membr_MAN1,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom	p.V730A	ENST00000308330.2	37	c.2189	CCDS8972.1	12	.	.	.	.	.	.	.	.	.	.	T	23.6	4.435458	0.83885	.	.	ENSG00000174106	ENST00000308330	T	0.60299	0.2	5.3	5.3	0.74995	Inner nuclear membrane protein MAN1 (1);	0.057540	0.64402	D	0.000002	T	0.74306	0.3699	M	0.71036	2.16	0.80722	D	1	D	0.57257	0.979	D	0.72075	0.976	T	0.75187	-0.3406	9	.	.	.	-11.7869	15.5485	0.76129	0.0:0.0:0.0:1.0	.	730	Q9Y2U8	MAN1_HUMAN	A	730	ENSP00000308369:V730A	.	V	+	2	0	LEMD3	63921018	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	7.841000	0.86834	2.130000	0.65690	0.477000	0.44152	GTT	LEMD3	-	pfam_Inner-Nucl-membr_MAN1	ENSG00000174106		0.398	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEMD3	HGNC	protein_coding	OTTHUMT00000401312.2		0.00	72	0	T			65634751	+1			no_errors	ENST00000308330	ensembl	human	known	74_37	missense	7.69	228	19	SNP	1.000	C
LMF1	64788	genome.wustl.edu	37	16	920852	920852	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr16:920852G>T	ENST00000262301.11	-	8	1127	c.1109C>A	c.(1108-1110)tCg>tAg	p.S370*	LMF1_ENST00000399843.2_Nonsense_Mutation_p.S370*|LMF1_ENST00000543238.1_Nonsense_Mutation_p.S133*|LMF1_ENST00000568897.1_Nonsense_Mutation_p.S153*|LMF1_ENST00000568268.1_5'UTR	NM_022773.2	NP_073610.2	Q96S06	LMF1_HUMAN	lipase maturation factor 1	370					chylomicron remnant clearance (GO:0034382)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of lipoprotein lipase activity (GO:0051006)|protein glycosylation in Golgi (GO:0033578)|protein maturation (GO:0051604)|protein secretion (GO:0009306)|regulation of cholesterol metabolic process (GO:0090181)|regulation of triglyceride metabolic process (GO:0090207)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				GACGCCCAGCGAGACGTTGGC	0.657																																																	0													50.0	57.0	55.0					16																	920852		2132	4254	6386	SO:0001587	stop_gained	0			AK022743	CCDS45373.1	16p13.3	2008-02-05	2007-11-29	2007-11-29	ENSG00000103227	ENSG00000103227			14154	protein-coding gene	gene with protein product		611761	"""chromosome 16 open reading frame 26"", ""transmembrane protein 112"""	C16orf26, TMEM112		11157797, 17994020	Standard	NM_022773		Approved	FLJ12681, JFP11, FLJ22302, TMEM112A	uc021tae.1	Q96S06	OTTHUMG00000047848	ENST00000262301.11:c.1109C>A	16.37:g.920852G>T	ENSP00000262301:p.Ser370*		Q68CJ3|Q96FJ4|Q9H6G4|Q9H9K7	Nonsense_Mutation	SNP	pfam_LMF	p.S370*	ENST00000262301.11	37	c.1109	CCDS45373.1	16	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989928	0.93106	.	.	ENSG00000103227	ENST00000262301;ENST00000399843;ENST00000540070;ENST00000545827;ENST00000543238	.	.	.	5.48	3.5	0.40072	.	0.321137	0.34879	N	0.003614	.	.	.	.	.	.	0.38497	D	0.948118	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1858	11.1025	0.48184	0.155:0.0:0.845:0.0	.	.	.	.	X	370;370;153;124;133	.	ENSP00000262301:S370X	S	-	2	0	LMF1	860853	0.921000	0.31238	0.002000	0.10522	0.046000	0.14306	3.842000	0.55858	1.329000	0.45376	0.561000	0.74099	TCG	LMF1	-	pfam_LMF	ENSG00000103227		0.657	LMF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LMF1	HGNC	protein_coding	OTTHUMT00000109071.3		0.00	62	0	G	NM_022773		920852	-1			no_errors	ENST00000262301	ensembl	human	known	74_37	nonsense	5.00	38	2	SNP	0.015	T
TIMP2	7077	genome.wustl.edu	37	17	76887813	76887813	+	Intron	SNP	G	G	T			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr17:76887813G>T	ENST00000262768.7	-	2	429				TIMP2_ENST00000536189.2_Intron|DDC8_ENST00000322630.2_Missense_Mutation_p.A258D	NM_003255.4	NP_003246.1	P16035	TIMP2_HUMAN	TIMP metallopeptidase inhibitor 2						aging (GO:0007568)|cellular response to organic substance (GO:0071310)|central nervous system development (GO:0007417)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of proteolysis (GO:0045861)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|regulation of Rap protein signal transduction (GO:0032487)|response to cytokine (GO:0034097)|response to drug (GO:0042493)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)			TCCCACAGCAGCCACGAGTGG	0.597																																																	0																																										SO:0001627	intron_variant	0				CCDS11758.1	17q25	2008-07-18	2005-08-08		ENSG00000035862	ENSG00000035862			11821	protein-coding gene	gene with protein product		188825	"""tissue inhibitor of metalloproteinase 2"""			1427908	Standard	NM_003255		Approved	CSC-21K	uc002jwf.3	P16035	OTTHUMG00000154517	ENST00000262768.7:c.131-17812C>A	17.37:g.76887813G>T			Q16121|Q93006|Q9UDF7	Missense_Mutation	SNP	NULL	p.A258D	ENST00000262768.7	37	c.773	CCDS11758.1	17	.	.	.	.	.	.	.	.	.	.	G	13.25	2.182303	0.38511	.	.	ENSG00000178404	ENST00000322630	T	0.29655	1.56	3.65	0.3	0.15776	.	0.508869	0.14707	N	0.303200	T	0.18002	0.0432	.	.	.	0.09310	N	1	B	0.21753	0.06	B	0.17722	0.019	T	0.16070	-1.0415	9	0.44086	T	0.13	-6.2994	4.4277	0.11511	0.1196:0.0:0.412:0.4684	.	258	Q96MC4	.	D	258	ENSP00000312767:A258D	ENSP00000312767:A258D	A	-	2	0	AC100788.1	74399408	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.384000	0.07389	0.088000	0.17205	-0.244000	0.11960	GCT	DDC8	-	NULL	ENSG00000178404		0.597	TIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100653515	Uniprot_gn	protein_coding	OTTHUMT00000335662.1	-	0.00	44	0	G	NM_003255		76887813	-1	tier1	-	no_errors	ENST00000322630	ensembl	human	putative	74_37	missense	11.76	30	4	SNP	0.000	T
LRIT1	26103	genome.wustl.edu	37	10	85992508	85992508	+	Silent	SNP	C	C	T	rs560573358		TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr10:85992508C>T	ENST00000372105.3	-	4	1068	c.1047G>A	c.(1045-1047)ccG>ccA	p.P349P		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	349						integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						CTGTGGAAGTCGGTGGCTCAG	0.562													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21732	0.0		0.0	False		,,,				2504	0.0																0													57.0	48.0	51.0					10																	85992508		2203	4300	6503	SO:0001819	synonymous_variant	0			AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.1047G>A	10.37:g.85992508C>T			Q0QD41|Q9Y4N7	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P349	ENST00000372105.3	37	c.1047	CCDS7373.1	10																																																																																			LRIT1	-	NULL	ENSG00000148602		0.562	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT1	HGNC	protein_coding	OTTHUMT00000049109.1	-	0.00	32	0	C	NM_015613		85992508	-1	tier1	-	no_errors	ENST00000372105	ensembl	human	known	74_37	silent	20.00	12	3	SNP	0.000	T
MDGA1	266727	genome.wustl.edu	37	6	37623625	37623625	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr6:37623625G>A	ENST00000434837.3	-	4	1608	c.430C>T	c.(430-432)Cga>Tga	p.R144*	MDGA1_ENST00000297153.7_Nonsense_Mutation_p.R144*|MDGA1_ENST00000505425.1_Nonsense_Mutation_p.R144*	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	144	Ig-like 2.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)		p.R144*(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						AAGTTGCCTCGCACATCGCTC	0.607																																																	1	Substitution - Nonsense(1)	large_intestine(1)											46.0	48.0	47.0					6																	37623625		2125	4222	6347	SO:0001587	stop_gained	0			AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.430C>T	6.37:g.37623625G>A	ENSP00000402584:p.Arg144*		A6NHG0|Q8NBE3	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like_dom	p.R144*	ENST00000434837.3	37	c.430	CCDS47417.1	6	.	.	.	.	.	.	.	.	.	.	G	46	12.517085	0.99674	.	.	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425;ENST00000515437	.	.	.	5.8	4.92	0.64577	.	0.000000	0.42821	D	0.000658	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	15.3632	0.74499	0.0:0.0:0.8595:0.1405	.	.	.	.	X	144;144;144;88	.	ENSP00000297153:R144X	R	-	1	2	MDGA1	37731603	0.964000	0.33143	0.708000	0.30435	0.691000	0.40173	2.602000	0.46257	1.443000	0.47586	0.655000	0.94253	CGA	MDGA1	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000112139		0.607	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDGA1	HGNC	protein_coding	OTTHUMT00000040419.3	-	0.00	41	0	G			37623625	-1	tier1	-	no_errors	ENST00000297153	ensembl	human	known	74_37	nonsense	14.71	29	5	SNP	0.953	A
MGST3	4259	genome.wustl.edu	37	1	165619133	165619133	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr1:165619133G>T	ENST00000367889.3	+	2	489	c.49G>T	c.(49-51)Gcc>Tcc	p.A17S	MGST3_ENST00000367884.2_Missense_Mutation_p.A17S|MGST3_ENST00000367886.2_Missense_Mutation_p.A31S|MGST3_ENST00000367883.1_Missense_Mutation_p.A31S|MGST3_ENST00000367885.1_Missense_Mutation_p.A31S|MGST3_ENST00000367888.4_Missense_Mutation_p.A17S	NM_004528.3	NP_004519.1	O14880	MGST3_HUMAN	microsomal glutathione S-transferase 3	17					glutathione derivative biosynthetic process (GO:1901687)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|peroxidase activity (GO:0004601)			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Glutathione(DB00143)	AACTGGTGCTGCCAGCTTTAT	0.517																																																	0													159.0	142.0	148.0					1																	165619133		2203	4300	6503	SO:0001583	missense	0			AF026977	CCDS1249.1	1q23	2012-06-21			ENSG00000143198	ENSG00000143198	2.5.1.18	"""Glutathione S-transferases / Microsomal"""	7064	protein-coding gene	gene with protein product	"""microsomal glutathione S-transferase III"", ""microsomal GST-3"", ""microsomal GST-III"""	604564				9278457	Standard	NM_004528		Approved	GST-III	uc001gdf.3	O14880	OTTHUMG00000034627	ENST00000367889.3:c.49G>T	1.37:g.165619133G>T	ENSP00000356864:p.Ala17Ser		B2R592|Q6ICN4	Missense_Mutation	SNP	pfam_Membr-assoc_MAPEG	p.A31S	ENST00000367889.3	37	c.91	CCDS1249.1	1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.519852	0.64634	.	.	ENSG00000143198	ENST00000367889;ENST00000367888;ENST00000367885;ENST00000404549;ENST00000367884;ENST00000367883;ENST00000367886	T;T;T;T;T;T;T	0.60299	0.2;0.2;0.2;0.2;0.2;0.2;0.2	5.67	5.67	0.87782	Membrane associated eicosanoid/glutathione metabolism-like domain (1);	0.000000	0.85682	D	0.000000	T	0.42517	0.1206	L	0.52823	1.66	0.80722	D	1	P;B	0.38250	0.624;0.201	B;B	0.39465	0.3;0.199	T	0.34800	-0.9814	10	0.16896	T	0.51	-15.7393	17.2648	0.87083	0.0:0.0:1.0:0.0	.	31;17	Q5VV89;O14880	.;MGST3_HUMAN	S	17;17;31;31;17;31;31	ENSP00000356864:A17S;ENSP00000356863:A17S;ENSP00000356860:A31S;ENSP00000384372:A31S;ENSP00000356859:A17S;ENSP00000356858:A31S;ENSP00000356861:A31S	ENSP00000356858:A31S	A	+	1	0	MGST3	163885757	1.000000	0.71417	0.987000	0.45799	0.915000	0.54546	8.622000	0.90953	2.676000	0.91093	0.650000	0.86243	GCC	MGST3	-	pfam_Membr-assoc_MAPEG	ENSG00000143198		0.517	MGST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGST3	HGNC	protein_coding	OTTHUMT00000083797.3	-	0.00	61	0	G	NM_004528		165619133	+1	tier1	-	no_errors	ENST00000367886	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	T
MPI	4351	genome.wustl.edu	37	15	75190056	75190056	+	Silent	SNP	C	C	T			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr15:75190056C>T	ENST00000352410.4	+	8	1324	c.1257C>T	c.(1255-1257)gcC>gcT	p.A419A	MPI_ENST00000323744.6_Silent_p.A358A|CTD-2235H24.2_ENST00000564692.1_RNA|MPI_ENST00000563786.1_Silent_p.A399A|MPI_ENST00000566377.1_3'UTR|MPI_ENST00000535694.1_Silent_p.A369A			P34949	MPI_HUMAN	mannose phosphate isomerase	419					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	mannose-6-phosphate isomerase activity (GO:0004476)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						TATTCCGTGCCTGCTGTCTGC	0.587																																																	0													138.0	122.0	128.0					15																	75190056		2197	4295	6492	SO:0001819	synonymous_variant	0				CCDS10272.1, CCDS73756.1, CCDS73757.1, CCDS73758.1	15q24.1	2013-09-19			ENSG00000178802	ENSG00000178802	5.3.1.8		7216	protein-coding gene	gene with protein product	"""mannose-6-phosphate isomerase"""	154550					Standard	NM_002435		Approved		uc002azc.1	P34949	OTTHUMG00000142826	ENST00000352410.4:c.1257C>T	15.37:g.75190056C>T			A8K8K9|Q96AB0	Silent	SNP	pfam_Man6P_Isoase-1,superfamily_RmlC_Cupin,pirsf_Mannose-6-P_Isomerase,prints_Mannose-6-P_Isomerase,tigrfam_Man6P_Isoase-1	p.A419	ENST00000352410.4	37	c.1257	CCDS10272.1	15																																																																																			MPI	-	superfamily_RmlC_Cupin,pirsf_Mannose-6-P_Isomerase	ENSG00000178802		0.587	MPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPI	HGNC	protein_coding	OTTHUMT00000286418.4	-	0.00	83	0	C			75190056	+1	tier1	-	no_errors	ENST00000352410	ensembl	human	known	74_37	silent	14.29	36	6	SNP	1.000	T
MS4A15	219995	genome.wustl.edu	37	11	60543107	60543107	+	Silent	SNP	C	C	T			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr11:60543107C>T	ENST00000405633.3	+	7	721	c.642C>T	c.(640-642)agC>agT	p.S214S	MS4A15_ENST00000528170.1_Silent_p.S173S|MS4A15_ENST00000337911.4_Silent_p.S121S	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	214						integral component of membrane (GO:0016021)				breast(1)|large_intestine(2)|lung(3)	6						ACGCCTTCAGCGCAGACTTCA	0.582											OREG0020991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													143.0	146.0	145.0					11																	60543107		2203	4300	6503	SO:0001819	synonymous_variant	0			AY584608	CCDS7991.1, CCDS44617.1, CCDS60802.1	11q12.2	2008-03-25							28573	protein-coding gene	gene with protein product							Standard	NM_001098835		Approved		uc009ynf.1	Q8N5U1		ENST00000405633.3:c.642C>T	11.37:g.60543107C>T		1046	A9UJY6|A9UJY7|F2Z2J5	Silent	SNP	pfam_CD20-like	p.S214	ENST00000405633.3	37	c.642	CCDS44617.1	11																																																																																			MS4A15	-	NULL	ENSG00000166961		0.582	MS4A15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MS4A15	HGNC	protein_coding	OTTHUMT00000395618.1	-	0.00	64	0	C			60543107	+1	tier1	-	no_errors	ENST00000405633	ensembl	human	known	74_37	silent	34.15	27	14	SNP	0.996	T
NBPF1	55672	genome.wustl.edu	37	1	16921146	16921146	+	5'UTR	SNP	T	T	C	rs1759165	byFrequency	TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr1:16921146T>C	ENST00000430580.2	-	0	511					NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCGGGCTCCTTCCAAGGCTCC	0.527																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.-377A>G	1.37:g.16921146T>C			Q8N4E8|Q9C0H0	RNA	SNP	-	NULL	ENST00000430580.2	37	NULL		1																																																																																			NBPF1	-	-	ENSG00000219481		0.527	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	NBPF1	HGNC	protein_coding	OTTHUMT00000106436.3	-	0.00	11	0	T	NM_017940		16921146	-1	tier1	rs1759165	no_errors	ENST00000420513	ensembl	human	known	74_37	rna	57.14	3	4	SNP	0.001	C
MSH4	4438	genome.wustl.edu	37	1	76280729	76280729	+	Silent	SNP	A	A	G			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr1:76280729A>G	ENST00000263187.3	+	5	827	c.723A>G	c.(721-723)caA>caG	p.Q241Q		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	241					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						CTACTATCCAAAGGAAATACT	0.343								Mismatch excision repair (MMR)																																									0													72.0	75.0	74.0					1																	76280729		2203	4296	6499	SO:0001819	synonymous_variant	0			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.723A>G	1.37:g.76280729A>G			Q5T4U6|Q8NEB3|Q9UNP8	Silent	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.Q241	ENST00000263187.3	37	c.723	CCDS670.1	1																																																																																			MSH4	-	pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mmatch_repair_MutS_con_dom	ENSG00000057468		0.343	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH4	HGNC	protein_coding	OTTHUMT00000026983.1	-	0.00	62	0	A	NM_002440		76280729	+1	tier1	-	no_errors	ENST00000263187	ensembl	human	known	74_37	silent	18.75	26	6	SNP	1.000	G
NBPF22P	285622	genome.wustl.edu	37	5	85589080	85589080	+	RNA	SNP	C	C	A			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr5:85589080C>A	ENST00000590707.1	+	0	1311					NR_003719.2				neuroblastoma breakpoint family, member 22, pseudogene																		TGAAGATCATCAAAAGAAGAC	0.507																																																	0																																												0			BC050328		5q14.3	2013-01-17	2011-04-15		ENSG00000205449	ENSG00000205449		"""neuroblastoma breakpoint family"""	28731	pseudogene	pseudogene						16079250	Standard	NR_003719		Approved	MGC48637	uc003kiq.3		OTTHUMG00000162585		5.37:g.85589080C>A				RNA	SNP	-	NULL	ENST00000590707.1	37	NULL		5																																																																																			NBPF22P	-	-	ENSG00000205449		0.507	NBPF22P-004	KNOWN	basic	processed_transcript	NBPF22P	HGNC	pseudogene	OTTHUMT00000453100.1		0.00	98	0	C	XM_208333		85589080	+1			no_errors	ENST00000590707	ensembl	human	known	74_37	rna	6.06	62	4	SNP	0.004	A
NELL1	4745	genome.wustl.edu	37	11	20968944	20968944	+	Silent	SNP	C	C	T			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr11:20968944C>T	ENST00000357134.5	+	11	1286	c.1134C>T	c.(1132-1134)caC>caT	p.H378H	NELL1_ENST00000532434.1_Silent_p.H378H|NELL1_ENST00000298925.5_Silent_p.H406H|NELL1_ENST00000325319.5_Silent_p.H321H	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	378					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AAAAGGATCACATTCTTCCTG	0.483																																																	0													137.0	130.0	132.0					11																	20968944		2203	4300	6503	SO:0001819	synonymous_variant	0			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1134C>T	11.37:g.20968944C>T			B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Silent	SNP	pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.H378	ENST00000357134.5	37	c.1134	CCDS7855.1	11																																																																																			NELL1	-	smart_VWF_C	ENSG00000165973		0.483	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL1	HGNC	protein_coding	OTTHUMT00000387588.1	-	0.00	43	0	C	NM_006157		20968944	+1	tier1	-	no_errors	ENST00000357134	ensembl	human	known	74_37	silent	15.79	16	3	SNP	0.953	T
NRG3	10718	genome.wustl.edu	37	10	84745037	84745037	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr10:84745037G>T	ENST00000404547.1	+	10	1839	c.1839G>T	c.(1837-1839)atG>atT	p.M613I	NRG3_ENST00000556918.1_Missense_Mutation_p.M419I|NRG3_ENST00000372142.2_Missense_Mutation_p.M392I|NRG3_ENST00000372141.2_Missense_Mutation_p.M589I|NRG3_ENST00000537893.1_Missense_Mutation_p.M239I|NRG3_ENST00000545131.1_Missense_Mutation_p.M239I|NRG3_ENST00000404576.2_Missense_Mutation_p.M393I			P56975	NRG3_HUMAN	neuregulin 3	613					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GCCTGCAAATGCCAGGGATTT	0.468																																																	0													98.0	99.0	99.0					10																	84745037		2203	4300	6503	SO:0001583	missense	0			AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.1839G>T	10.37:g.84745037G>T	ENSP00000384796:p.Met613Ile		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	pfscan_EG-like_dom	p.M613I	ENST00000404547.1	37	c.1839	CCDS31233.1	10	.	.	.	.	.	.	.	.	.	.	G	13.06	2.123268	0.37436	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.46063	1.49;1.42;1.43;0.88;1.45;0.94;0.94	5.95	5.95	0.96441	.	0.127823	0.56097	D	0.000032	T	0.34250	0.0891	L	0.43152	1.355	0.37903	D	0.931094	P;P;B;P	0.38370	0.458;0.628;0.052;0.628	B;B;B;B	0.34489	0.125;0.184;0.052;0.184	T	0.39375	-0.9617	10	0.66056	D	0.02	-37.1506	11.1947	0.48707	0.0824:0.0:0.9176:0.0	.	588;613;392;589	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	I	589;613;588;392;393;419;239;239	ENSP00000361214:M589I;ENSP00000384796:M613I;ENSP00000361215:M392I;ENSP00000385804:M393I;ENSP00000451376:M419I;ENSP00000441201:M239I;ENSP00000440377:M239I	ENSP00000361214:M589I	M	+	3	0	NRG3	84735017	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.988000	0.56951	2.827000	0.97445	0.650000	0.86243	ATG	NRG3	-	NULL	ENSG00000185737		0.468	NRG3-005	KNOWN	basic|CCDS	protein_coding	NRG3	HGNC	protein_coding	OTTHUMT00000412262.1	-	0.00	51	0	G	XM_166086		84745037	+1	tier1	-	no_errors	ENST00000404547	ensembl	human	known	74_37	missense	12.82	34	5	SNP	1.000	T
PCNXL4	64430	genome.wustl.edu	37	14	60591065	60591065	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr14:60591065A>T	ENST00000406854.1	+	9	2730	c.2176A>T	c.(2176-2178)Aca>Tca	p.T726S	PCNXL4_ENST00000535349.1_5'UTR|PCNXL4_ENST00000406949.1_Missense_Mutation_p.T492S|PCNXL4_ENST00000404681.2_Missense_Mutation_p.T726S|PCNXL4_ENST00000317623.4_Missense_Mutation_p.T492S			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	726						integral component of membrane (GO:0016021)											AAATGTCTTGACACCCTGTAC	0.363																																																	0													74.0	67.0	70.0					14																	60591065		2203	4300	6503	SO:0001583	missense	0			AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.2176A>T	14.37:g.60591065A>T	ENSP00000384801:p.Thr726Ser		A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	pfam_Pecanex	p.T726S	ENST00000406854.1	37	c.2176		14	.	.	.	.	.	.	.	.	.	.	A	20.5	3.997995	0.74818	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681	T;T;T;T	0.25749	1.79;1.83;1.78;1.83	5.71	5.71	0.89125	.	0.092281	0.85682	D	0.000000	T	0.50633	0.1627	M	0.75447	2.3	0.80722	D	1	D;D	0.76494	0.991;0.999	P;D	0.78314	0.815;0.991	T	0.45205	-0.9277	10	0.28530	T	0.3	.	15.9876	0.80174	1.0:0.0:0.0:0.0	.	726;492	Q63HM2;B5MC47	CN135_HUMAN;.	S	492;726;492;726	ENSP00000317396:T492S;ENSP00000384801:T726S;ENSP00000385201:T492S;ENSP00000385713:T726S	ENSP00000317396:T492S	T	+	1	0	C14orf135	59660818	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.730000	0.91510	2.180000	0.69256	0.528000	0.53228	ACA	PCNXL4	-	NULL	ENSG00000126773		0.363	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	PCNXL4	HGNC	protein_coding	OTTHUMT00000317847.1	-	0.00	71	0	A	NM_022495		60591065	+1	tier1	-	no_errors	ENST00000404681	ensembl	human	known	74_37	missense	44.90	27	22	SNP	1.000	T
PDE11A	50940	genome.wustl.edu	37	2	178762828	178762828	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr2:178762828C>T	ENST00000286063.6	-	4	1576	c.1259G>A	c.(1258-1260)tGt>tAt	p.C420Y	PDE11A_ENST00000449286.2_Missense_Mutation_p.C62Y|PDE11A_ENST00000358450.4_Missense_Mutation_p.C170Y|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000409504.1_Missense_Mutation_p.C62Y	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	420	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	ACAGCGTTCACATTTCAGCAG	0.388									Primary Pigmented Nodular Adrenocortical Disease, Familial																																								0													141.0	133.0	136.0					2																	178762828		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1259G>A	2.37:g.178762828C>T	ENSP00000286063:p.Cys420Tyr		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.C420Y	ENST00000286063.6	37	c.1259	CCDS33334.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.070490|5.070490	0.93950|0.93950	.|.	.|.	ENSG00000128655|ENSG00000128655	ENST00000286063;ENST00000358450;ENST00000409504;ENST00000431253;ENST00000449286|ENST00000433879	T;T;T;T|.	0.69685|.	-0.42;-0.42;-0.42;-0.42|.	5.89|5.89	5.89|5.89	0.94794|0.94794	GAF (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83681|0.83681	0.5307|0.5307	M|M	0.84846|0.84846	2.72|2.72	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.87578|.	0.98;0.998|.	D|D	0.83983|0.83983	0.0333|0.0333	10|5	0.87932|.	D|.	0|.	.|.	20.2576|20.2576	0.98430|0.98430	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	170;420|.	Q9HCR9-2;Q9HCR9|.	.;PDE11_HUMAN|.	Y|M	420;170;62;95;62|59	ENSP00000286063:C420Y;ENSP00000351232:C170Y;ENSP00000386539:C62Y;ENSP00000390599:C62Y|.	ENSP00000286063:C420Y|.	C|V	-|-	2|1	0|0	PDE11A|PDE11A	178471074|178471074	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.792000|7.792000	0.85828|0.85828	2.783000|2.783000	0.95769|0.95769	0.655000|0.655000	0.94253|0.94253	TGT|GTG	PDE11A	-	pfam_GAF,smart_GAF	ENSG00000128655		0.388	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE11A	HGNC	protein_coding	OTTHUMT00000334313.2	-	0.00	85	0	C			178762828	-1	tier1	-	no_errors	ENST00000286063	ensembl	human	known	74_37	missense	30.00	49	21	SNP	1.000	T
PDGFA	5154	genome.wustl.edu	37	7	550549	550549	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr7:550549A>G	ENST00000354513.5	-	4	742	c.350T>C	c.(349-351)tTc>tCc	p.F117S	PDGFA_ENST00000402802.3_Missense_Mutation_p.F117S|PDGFA_ENST00000426681.2_5'Flank	NM_002607.5	NP_002598.4	P04085	PDGFA_HUMAN	platelet-derived growth factor alpha polypeptide	117					actin cytoskeleton organization (GO:0030036)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell activation (GO:0001775)|cell projection assembly (GO:0030031)|cell-cell signaling (GO:0007267)|embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|lung alveolus development (GO:0048286)|negative chemotaxis (GO:0050919)|negative regulation of phosphatidylinositol biosynthetic process (GO:0010512)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling (GO:0060683)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of smooth muscle cell migration (GO:0014910)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|microvillus (GO:0005902)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|growth factor activity (GO:0008083)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)		CCAGATCAGGAAGTTGGCGGA	0.652																																																	0													69.0	52.0	58.0					7																	550549		2203	4300	6503	SO:0001583	missense	0				CCDS34578.1, CCDS47524.1	7p22	2008-07-18			ENSG00000197461	ENSG00000197461			8799	protein-coding gene	gene with protein product	"""PDGF A-chain"", ""platelet-derived growth factor alpha chain"""	173430				1505216, 2536956	Standard	NM_002607		Approved	PDGF1, PDGF-A	uc003sir.3	P04085	OTTHUMG00000151412	ENST00000354513.5:c.350T>C	7.37:g.550549A>G	ENSP00000346508:p.Phe117Ser		B5BU73	Missense_Mutation	SNP	pfam_PDGF/VEGF_dom,pfam_PDGF_N,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom	p.F117S	ENST00000354513.5	37	c.350	CCDS34578.1	7	.	.	.	.	.	.	.	.	.	.	a	18.88	3.718348	0.68844	.	.	ENSG00000197461	ENST00000402802;ENST00000354513	T;T	0.50548	0.75;0.74	4.69	4.69	0.59074	Platelet-derived growth factor (PDGF) (3);	0.000000	0.85682	D	0.000000	T	0.71921	0.3397	M	0.86502	2.82	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.995;0.999	T	0.77882	-0.2422	10	0.66056	D	0.02	-23.4479	14.1852	0.65601	1.0:0.0:0.0:0.0	.	131;117;117	Q32M96;P04085-2;P04085	.;.;PDGFA_HUMAN	S	117	ENSP00000383889:F117S;ENSP00000346508:F117S	ENSP00000346508:F117S	F	-	2	0	PDGFA	517075	1.000000	0.71417	1.000000	0.80357	0.318000	0.28184	8.267000	0.89874	1.750000	0.51863	0.456000	0.33151	TTC	PDGFA	-	pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom	ENSG00000197461		0.652	PDGFA-002	KNOWN	basic|CCDS	protein_coding	PDGFA	HGNC	protein_coding	OTTHUMT00000322534.1	-	0.00	68	0	A			550549	-1	tier1	-	no_errors	ENST00000354513	ensembl	human	known	74_37	missense	17.82	83	18	SNP	1.000	G
PLCH1	23007	genome.wustl.edu	37	3	155212209	155212209	+	Silent	SNP	G	G	T			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr3:155212209G>T	ENST00000340059.7	-	15	1955	c.1956C>A	c.(1954-1956)ctC>ctA	p.L652L	PLCH1_ENST00000460012.1_Silent_p.L634L|PLCH1_ENST00000414191.1_Silent_p.L634L|PLCH1_ENST00000447496.2_Silent_p.L652L|PLCH1_ENST00000334686.6_Silent_p.L634L|PLCH1_ENST00000494598.1_Silent_p.L652L	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	652	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.L634L(1)|p.L652L(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AAATCCTCGTGAGTTGCTTTT	0.453																																																	2	Substitution - coding silent(2)	kidney(2)											169.0	158.0	162.0					3																	155212209		2203	4300	6503	SO:0001819	synonymous_variant	0			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1956C>A	3.37:g.155212209G>T			Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.L652	ENST00000340059.7	37	c.1956	CCDS46939.1	3																																																																																			PLCH1	-	pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	ENSG00000114805		0.453	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1		0.00	58	0	G	NM_014996		155212209	-1			no_errors	ENST00000340059	ensembl	human	known	74_37	silent	5.13	37	2	SNP	0.984	T
PRDM9	56979	genome.wustl.edu	37	5	23527050	23527050	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr5:23527050G>T	ENST00000296682.3	+	11	2035	c.1853G>T	c.(1852-1854)aGc>aTc	p.S618I		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	618					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CGGGGCTTTAGCCGGCAGTCA	0.622										HNSCC(3;0.000094)																																							0													25.0	26.0	26.0					5																	23527050		1603	3435	5038	SO:0001583	missense	0			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1853G>T	5.37:g.23527050G>T	ENSP00000296682:p.Ser618Ile		B4DX22|Q27Q50	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.S618I	ENST00000296682.3	37	c.1853	CCDS43307.1	5	.	.	.	.	.	.	.	.	.	.	G	3.369	-0.128834	0.06753	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.37058	1.22	1.89	0.98	0.19750	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.908086	0.09085	N	0.850775	T	0.36303	0.0962	N	0.26130	0.795	0.09310	N	1	P	0.43519	0.809	P	0.51701	0.677	T	0.32929	-0.9888	10	0.62326	D	0.03	-0.2426	8.0933	0.30813	0.0:0.6433:0.3567:0.0	.	618	Q9NQV7	PRDM9_HUMAN	I	618;384	ENSP00000296682:S618I	ENSP00000253473:S384I	S	+	2	0	PRDM9	23562807	0.000000	0.05858	0.240000	0.24138	0.071000	0.16799	-4.747000	0.00191	0.315000	0.23110	0.455000	0.32223	AGC	PRDM9	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000164256		0.622	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1	-	0.00	72	0	G	NM_020227		23527050	+1	tier1	-	no_errors	ENST00000296682	ensembl	human	known	74_37	missense	11.36	39	5	SNP	0.042	T
PRPS2	5634	genome.wustl.edu	37	X	12837707	12837707	+	Silent	SNP	G	G	T			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chrX:12837707G>T	ENST00000380668.5	+	5	740	c.612G>T	c.(610-612)cgG>cgT	p.R204R	PRPS2_ENST00000398491.2_Silent_p.R207R	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	204					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|AMP biosynthetic process (GO:0006167)|nucleobase-containing compound metabolic process (GO:0006139)|organ regeneration (GO:0031100)	extracellular vesicular exosome (GO:0070062)|ribose phosphate diphosphokinase complex (GO:0002189)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|carbohydrate binding (GO:0030246)|GDP binding (GO:0019003)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						AAGTGGACCGGATGGTCCTGG	0.532																																																	0													259.0	227.0	238.0					X																	12837707		2203	4300	6503	SO:0001819	synonymous_variant	0			Y00971	CCDS14150.1, CCDS43918.1	Xp22.2	2012-10-02			ENSG00000101911	ENSG00000101911	2.7.6.1		9465	protein-coding gene	gene with protein product	"""PRS II"", ""ribose-phosphate diphosphokinase 2"""	311860				1962753	Standard	NM_002765		Approved		uc004cva.3	P11908	OTTHUMG00000021139	ENST00000380668.5:c.612G>T	X.37:g.12837707G>T			Q0VDH9|Q0VDI0|Q15245|Q2TAK7	Silent	SNP	pfam_PRibTrfase_dom,tigrfam_Rib-P_diPkinase	p.R207	ENST00000380668.5	37	c.621	CCDS14150.1	X																																																																																			PRPS2	-	pfam_PRibTrfase_dom,tigrfam_Rib-P_diPkinase	ENSG00000101911		0.532	PRPS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRPS2	HGNC	protein_coding	OTTHUMT00000055772.2	-	0.00	76	0	G	NM_002765		12837707	+1	tier1	-	no_errors	ENST00000398491	ensembl	human	known	74_37	silent	6.90	54	4	SNP	1.000	T
PTPRZ1	5803	genome.wustl.edu	37	7	121652125	121652125	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr7:121652125G>T	ENST00000393386.2	+	12	3436	c.3025G>T	c.(3025-3027)Gac>Tac	p.D1009Y	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1009					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TCTTTTACCTGACACAGATGG	0.433																																																	0													119.0	118.0	118.0					7																	121652125		2203	4300	6503	SO:0001583	missense	0			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.3025G>T	7.37:g.121652125G>T	ENSP00000377047:p.Asp1009Tyr		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.D1009Y	ENST00000393386.2	37	c.3025	CCDS34740.1	7	.	.	.	.	.	.	.	.	.	.	G	15.12	2.737880	0.49045	.	.	ENSG00000106278	ENST00000393386	T	0.56611	0.45	5.47	3.66	0.41972	.	0.235349	0.37530	N	0.002051	T	0.68403	0.2997	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.69822	-0.5041	10	0.87932	D	0	.	11.6645	0.51366	0.1436:0.0:0.8564:0.0	.	1009	P23471	PTPRZ_HUMAN	Y	1009	ENSP00000377047:D1009Y	ENSP00000377047:D1009Y	D	+	1	0	PTPRZ1	121439361	1.000000	0.71417	0.927000	0.36925	0.998000	0.95712	3.709000	0.54853	0.676000	0.31285	0.650000	0.86243	GAC	PTPRZ1	-	NULL	ENSG00000106278		0.433	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	HGNC	protein_coding	OTTHUMT00000347288.1		0.00	36	0	G	NM_002851		121652125	+1			no_errors	ENST00000393386	ensembl	human	known	74_37	missense	16.67	25	5	SNP	1.000	T
PYHIN1	149628	genome.wustl.edu	37	1	158912089	158912089	+	Missense_Mutation	SNP	C	C	A	rs143141886		TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr1:158912089C>A	ENST00000368140.1	+	5	1147	c.902C>A	c.(901-903)cCa>cAa	p.P301Q	PYHIN1_ENST00000392252.3_Missense_Mutation_p.P292Q|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Missense_Mutation_p.P292Q|PYHIN1_ENST00000392254.2_Missense_Mutation_p.P301Q	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	301	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					TTTGAGGTTCCAAAGGACATC	0.353																																																	0													51.0	52.0	51.0					1																	158912089		2203	4300	6503	SO:0001583	missense	0			AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.902C>A	1.37:g.158912089C>A	ENSP00000357122:p.Pro301Gln		Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x	p.P301Q	ENST00000368140.1	37	c.902	CCDS1178.1	1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244955	0.39697	.	.	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	2.85	2.85	0.33270	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.55369	0.1916	M	0.78049	2.395	0.23496	N	0.997557	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.997	T	0.38887	-0.9640	9	0.87932	D	0	.	9.2705	0.37668	0.0:1.0:0.0:0.0	.	292;301;292;301	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9	.;.;.;IFIX_HUMAN	Q	301;292;301;292	ENSP00000357122:P301Q;ENSP00000357120:P292Q;ENSP00000376083:P301Q;ENSP00000376082:P292Q	ENSP00000357120:P292Q	P	+	2	0	PYHIN1	157178713	0.002000	0.14202	0.002000	0.10522	0.045000	0.14185	1.620000	0.36976	1.577000	0.49804	0.655000	0.94253	CCA	PYHIN1	-	pfam_HIN200/IF120x,pfscan_HIN200/IF120x	ENSG00000163564		0.353	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PYHIN1	HGNC	protein_coding	OTTHUMT00000090110.1		0.00	32	0	C	NM_152501		158912089	+1			no_errors	ENST00000368140	ensembl	human	known	74_37	missense	13.04	20	3	SNP	0.004	A
RFX6	222546	genome.wustl.edu	37	6	117243304	117243304	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr6:117243304G>T	ENST00000332958.2	+	13	1443	c.1427G>T	c.(1426-1428)aGa>aTa	p.R476I		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	476					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GTAGAACAGAGAGTTATTAAG	0.383																																																	0													103.0	104.0	104.0					6																	117243304		2203	4300	6503	SO:0001583	missense	0			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1427G>T	6.37:g.117243304G>T	ENSP00000332208:p.Arg476Ile		Q5T6B3	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.R476I	ENST00000332958.2	37	c.1427	CCDS5113.1	6	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363063	0.41902	.	.	ENSG00000185002	ENST00000332958	T	0.55413	0.52	5.53	4.65	0.58169	.	0.135299	0.64402	D	0.000002	T	0.26340	0.0643	L	0.27053	0.805	0.58432	D	0.999999	P	0.44006	0.824	B	0.40375	0.327	T	0.14952	-1.0454	10	0.52906	T	0.07	-13.0267	10.0525	0.42225	0.1495:0.0:0.8505:0.0	.	476	Q8HWS3	RFX6_HUMAN	I	476	ENSP00000332208:R476I	ENSP00000332208:R476I	R	+	2	0	RFX6	117349997	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.040000	0.64191	2.618000	0.88619	0.585000	0.79938	AGA	RFX6	-	NULL	ENSG00000185002		0.383	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX6	HGNC	protein_coding	OTTHUMT00000041970.2		0.00	46	0	G	NM_173560		117243304	+1			no_errors	ENST00000332958	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T
RFX7	64864	genome.wustl.edu	37	15	56390553	56390553	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr15:56390553G>A	ENST00000559447.2	-	8	813	c.542C>T	c.(541-543)cCt>cTt	p.P181L	RFX7_ENST00000422057.1_Missense_Mutation_p.P181L|RFX7_ENST00000423270.1_Missense_Mutation_p.P278L|RFX7_ENST00000317318.6_Missense_Mutation_p.P278L			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	181					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AAAAGCAGAAGGCTGGGTAAT	0.383																																																	0													34.0	32.0	33.0					15																	56390553		1821	4067	5888	SO:0001583	missense	0					15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.542C>T	15.37:g.56390553G>A	ENSP00000453281:p.Pro181Leu		Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.P278L	ENST00000559447.2	37	c.833		15	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958463	0.53400	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.52526	0.66;0.67;0.67	5.64	4.72	0.59763	.	0.160288	0.43919	D	0.000502	T	0.33789	0.0875	N	0.14661	0.345	0.45239	D	0.998246	B;B	0.15141	0.012;0.003	B;B	0.14023	0.01;0.006	T	0.12218	-1.0556	10	0.66056	D	0.02	-8.9693	15.161	0.72785	0.0:0.0:0.8581:0.1419	.	181;181	Q2KHR2;C9JU50	RFX7_HUMAN;.	L	181;278;278	ENSP00000387504:P181L;ENSP00000313299:P278L;ENSP00000397644:P278L	ENSP00000313299:P278L	P	-	2	0	RFX7	54177845	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.337000	0.59310	1.364000	0.46038	0.655000	0.94253	CCT	RFX7	-	NULL	ENSG00000181827		0.383	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	RFX7	HGNC	protein_coding	OTTHUMT00000418841.3	-	0.00	40	0	G	NM_022841		56390553	-1	tier1	-	no_errors	ENST00000423270	ensembl	human	known	74_37	missense	68.42	6	13	SNP	1.000	A
RTEL1	51750	genome.wustl.edu	37	20	62321468	62321468	+	Silent	SNP	C	C	T			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr20:62321468C>T	ENST00000360203.5	+	25	2495	c.2170C>T	c.(2170-2172)Ctg>Ttg	p.L724L	RTEL1_ENST00000318100.4_Silent_p.L724L|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.L724L|RTEL1_ENST00000370003.1_5'UTR|RTEL1_ENST00000370018.3_Silent_p.L724L|RTEL1_ENST00000508582.2_Silent_p.L748L					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			AAGAGCCCAACTGCCCTCCTG	0.617																																																	0													92.0	82.0	85.0					20																	62321468		2202	4300	6502	SO:0001819	synonymous_variant	0			AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.2170C>T	20.37:g.62321468C>T				Silent	SNP	pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.L724	ENST00000360203.5	37	c.2170		20																																																																																			RTEL1	-	tigrfam_DNA_helicase_DNA-repair_Rad3	ENSG00000258366		0.617	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	RTEL1	HGNC	protein_coding	OTTHUMT00000289781.1		0.00	37	0	C	NM_032957		62321468	+1			no_errors	ENST00000318100	ensembl	human	known	74_37	silent	10.53	17	2	SNP	1.000	T
SIGMAR1	10280	genome.wustl.edu	37	9	34637400	34637400	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr9:34637400delC	ENST00000277010.4	-	2	242	c.169delG	c.(169-171)gccfs	p.A57fs	SIGMAR1_ENST00000461426.1_5'UTR|SIGMAR1_ENST00000378892.1_5'UTR|SIGMAR1_ENST00000477726.1_Frame_Shift_Del_p.A57fs	NM_001282208.1|NM_005866.2	NP_001269137.1|NP_005857.1	Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	57					cell death (GO:0008219)|lipid transport (GO:0006869)|nervous system development (GO:0007399)|regulation of neuron apoptotic process (GO:0043523)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lipid particle (GO:0005811)|nuclear envelope (GO:0005635)	drug binding (GO:0008144)|opioid receptor activity (GO:0004985)			large_intestine(1)|lung(1)	2					Amitriptyline(DB00321)|Dextromethorphan(DB00514)|Nortriptyline(DB00540)|Pentazocine(DB00652)|Remoxipride(DB00409)	CGAGAGAAGGCCAGCTCGTGG	0.697																																																	0													15.0	20.0	18.0					9																	34637400		2200	4298	6498	SO:0001589	frameshift_variant	0			BC004899	CCDS6562.1, CCDS6563.1	9p13.3	2008-12-18	2008-12-18	2008-12-18	ENSG00000147955	ENSG00000147955			8157	protein-coding gene	gene with protein product		601978	"""opioid receptor, sigma 1"""	OPRS1		8954936, 9453537	Standard	NM_005866		Approved	SR-BP1	uc003zvb.3	Q99720	OTTHUMG00000019829	ENST00000277010.4:c.169delG	9.37:g.34637400delC	ENSP00000277010:p.Ala57fs		D3DRM7|O00673|O00725|Q0Z9W6|Q153Z1|Q2TSD1|Q53GN2|Q7Z653|Q8N7H3|Q9NYX0	Frame_Shift_Del	DEL	pfam_ERG2_sigma1_rcpt-like	p.A57fs	ENST00000277010.4	37	c.169	CCDS6562.1	9																																																																																			SIGMAR1	-	pfam_ERG2_sigma1_rcpt-like	ENSG00000147955		0.697	SIGMAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGMAR1	HGNC	protein_coding	OTTHUMT00000052204.1		0.00	19	0	C	NM_005866		34637400	-1	tier1		no_errors	ENST00000277010	ensembl	human	known	74_37	frame_shift_del	40.00	3	2	DEL	1.000	-
SIRT2	22933	genome.wustl.edu	37	19	39390226	39390226	+	5'UTR	SNP	C	C	T			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr19:39390226C>T	ENST00000249396.7	-	0	237				NFKBIB_ENST00000313582.5_5'Flank|NFKBIB_ENST00000572515.1_5'Flank|SIRT2_ENST00000358931.5_5'UTR|SIRT2_ENST00000392081.2_5'UTR|NFKBIB_ENST00000392079.3_5'Flank|SIRT2_ENST00000481381.1_5'UTR	NM_012237.3	NP_036369.2	Q8IXJ6	SIR2_HUMAN	sirtuin 2						autophagy (GO:0006914)|cellular lipid catabolic process (GO:0044242)|cellular response to caloric restriction (GO:0061433)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to hypoxia (GO:0071456)|cellular response to molecule of bacterial origin (GO:0071219)|cellular response to oxidative stress (GO:0034599)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|chromatin silencing at telomere (GO:0006348)|gene silencing (GO:0016458)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|innate immune response (GO:0045087)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|myelination in peripheral nervous system (GO:0022011)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)|negative regulation of defense response to bacterium (GO:1900425)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of oligodendrocyte progenitor proliferation (GO:0070446)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cell division (GO:0051781)|positive regulation of DNA binding (GO:0043388)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of meiosis (GO:0045836)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)|protein kinase B signaling (GO:0043491)|regulation of cell cycle (GO:0051726)|regulation of exit from mitosis (GO:0007096)|regulation of myelination (GO:0031641)|regulation of phosphorylation (GO:0042325)|response to redox state (GO:0051775)|ripoptosome assembly involved in necroptotic process (GO:1901026)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)	centriole (GO:0005814)|centrosome (GO:0005813)|chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|glial cell projection (GO:0097386)|juxtaparanode region of axon (GO:0044224)|lateral loop (GO:0043219)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|myelin sheath (GO:0043209)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|spindle (GO:0005819)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|NAD-dependent protein deacetylase activity (GO:0034979)|protein deacetylase activity (GO:0033558)|transcription factor binding (GO:0008134)|tubulin deacetylase activity (GO:0042903)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			ACCACTGTGTCCCGTCACCGA	0.622																																																	0													18.0	22.0	21.0					19																	39390226		691	1591	2282	SO:0001623	5_prime_UTR_variant	0			AF083107	CCDS12523.1, CCDS46069.1, CCDS74361.1	19q13	2010-06-25	2010-06-25		ENSG00000068903	ENSG00000068903			10886	protein-coding gene	gene with protein product		604480	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 2"", ""sirtuin (silent mating type information regulation 2 homolog) 2 (S. cerevisiae)"""	SIR2L		10393250, 10381378	Standard	NM_012237		Approved		uc002ojt.2	Q8IXJ6	OTTHUMG00000150480	ENST00000249396.7:c.-65G>A	19.37:g.39390226C>T			A8K3V1|B2RB45|O95889|Q924Y7|Q9P0G8|Q9UNT0|Q9Y6E9|U5TP13	RNA	SNP	-	NULL	ENST00000249396.7	37	NULL	CCDS12523.1	19																																																																																			SIRT2	-	-	ENSG00000068903		0.622	SIRT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIRT2	HGNC	protein_coding	OTTHUMT00000318278.1	-	0.00	91	0	C			39390226	-1	tier1	-	no_errors	ENST00000481381	ensembl	human	known	74_37	rna	9.43	48	5	SNP	0.891	T
SLC22A2	6582	genome.wustl.edu	37	6	160679544	160679544	+	Silent	SNP	G	G	A			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr6:160679544G>A	ENST00000366953.3	-	1	504	c.246C>T	c.(244-246)ggC>ggT	p.G82G	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366952.1_Silent_p.G61G	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	82					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	GGGAGGCTTCGCCCGCAGGTC	0.677																																																	0													53.0	58.0	57.0					6																	160679544		2203	4300	6503	SO:0001819	synonymous_variant	0			X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.246C>T	6.37:g.160679544G>A			Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.G82	ENST00000366953.3	37	c.246	CCDS5276.1	6																																																																																			SLC22A2	-	pfscan_MFS_dom,tigrfam_Orgcat_transp	ENSG00000112499		0.677	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A2	HGNC	protein_coding	OTTHUMT00000042943.1	-	0.00	139	0	G	NM_003058		160679544	-1	tier1	-	no_errors	ENST00000366953	ensembl	human	known	74_37	silent	32.14	38	18	SNP	0.055	A
SMEK1	55671	genome.wustl.edu	37	14	91932626	91932626	+	Intron	SNP	C	C	T			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr14:91932626C>T	ENST00000554943.1	-	11	1776				SMEK1_ENST00000555462.1_Intron|SMEK1_ENST00000337238.4_Intron|SMEK1_ENST00000554684.1_Intron|SMEK1_ENST00000428424.2_Intron|SMEK1_ENST00000555718.1_5'UTR			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)						positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		ACATCGTCTTCGGTTGGCAAG	0.363																																																	0																																										SO:0001627	intron_variant	0			AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"""KIAA2010"""	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.1661-863G>A	14.37:g.91932626C>T			Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	RNA	SNP	-	NULL	ENST00000554943.1	37	NULL		14																																																																																			SMEK1	-	-	ENSG00000100796		0.363	SMEK1-007	KNOWN	basic	protein_coding	SMEK1	HGNC	protein_coding	OTTHUMT00000411665.1	-	0.00	154	0	C	NM_032560		91932626	-1	tier1	-	no_errors	ENST00000555718	ensembl	human	known	74_37	rna	35.63	56	31	SNP	1.000	T
SPATA6	54558	genome.wustl.edu	37	1	48850999	48850999	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr1:48850999G>T	ENST00000371847.3	-	9	1055	c.891C>A	c.(889-891)tgC>tgA	p.C297*	SPATA6_ENST00000371843.3_Nonsense_Mutation_p.C297*|SPATA6_ENST00000396199.3_Nonsense_Mutation_p.C225*	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	297					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CCTTGGGTCGGCAGCAGCCAA	0.303																																																	0													76.0	75.0	75.0					1																	48850999		2203	4296	6499	SO:0001587	stop_gained	0			AK000869	CCDS551.1, CCDS65535.1, CCDS72787.1	1p32.3	2012-03-15			ENSG00000132122	ENSG00000132122			18309	protein-coding gene	gene with protein product	"""spermatogenesis-related factor-1"""	613947					Standard	XM_005270948		Approved	SRF1, FLJ10007, SRF-1	uc001crr.2	Q9NWH7	OTTHUMG00000007794	ENST00000371847.3:c.891C>A	1.37:g.48850999G>T	ENSP00000360913:p.Cys297*		Q5T3N7|Q8WUE6	Nonsense_Mutation	SNP	NULL	p.C297*	ENST00000371847.3	37	c.891	CCDS551.1	1	.	.	.	.	.	.	.	.	.	.	G	38	7.055990	0.98032	.	.	ENSG00000132122	ENST00000371847;ENST00000371843;ENST00000396199;ENST00000371841	.	.	.	5.09	2.21	0.28008	.	0.738703	0.13498	N	0.383479	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	6.9389	0.24483	0.2821:0.0:0.7179:0.0	.	.	.	.	X	297;297;225;138	.	ENSP00000360907:C138X	C	-	3	2	SPATA6	48623586	0.427000	0.25514	0.240000	0.24138	0.910000	0.53928	1.801000	0.38843	0.418000	0.25898	0.555000	0.69702	TGC	SPATA6	-	NULL	ENSG00000132122		0.303	SPATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA6	HGNC	protein_coding	OTTHUMT00000021347.1	-	0.00	75	0	G	NM_019073		48850999	-1	tier1	-	no_errors	ENST00000371847	ensembl	human	known	74_37	nonsense	7.27	50	4	SNP	0.701	T
SOAT1	6646	genome.wustl.edu	37	1	179308616	179308616	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr1:179308616T>C	ENST00000367619.3	+	6	576	c.433T>C	c.(433-435)Ttt>Ctt	p.F145L	SOAT1_ENST00000540564.1_Missense_Mutation_p.F87L|SOAT1_ENST00000539888.1_Missense_Mutation_p.F80L|SOAT1_ENST00000535686.1_5'UTR	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	145					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	ATATCACATGTTTATTGCCCT	0.343																																																	0													193.0	183.0	187.0					1																	179308616		2203	4300	6503	SO:0001583	missense	0			L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"""acyl-Coenzyme A: cholesterol acyltransferase"""	102642	"""sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"""	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.433T>C	1.37:g.179308616T>C	ENSP00000356591:p.Phe145Leu		A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Missense_Mutation	SNP	pfam_MBOAT_fam	p.F145L	ENST00000367619.3	37	c.433	CCDS1330.1	1	.	.	.	.	.	.	.	.	.	.	T	33	5.206804	0.95033	.	.	ENSG00000057252	ENST00000539888;ENST00000540564;ENST00000367619;ENST00000426956	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	5.67	5.67	0.87782	.	0.097141	0.64402	D	0.000001	T	0.42585	0.1209	M	0.75777	2.31	0.80722	D	1	D;D	0.67145	0.97;0.996	P;P	0.53401	0.601;0.725	T	0.39583	-0.9607	10	0.51188	T	0.08	-16.4372	13.8621	0.63566	0.0:0.0:0.0:1.0	.	87;145	A8K3P4;P35610	.;SOAT1_HUMAN	L	80;87;145;145	ENSP00000441356:F80L;ENSP00000445315:F87L;ENSP00000356591:F145L;ENSP00000411309:F145L	ENSP00000356591:F145L	F	+	1	0	SOAT1	177575239	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.857000	0.86963	2.141000	0.66446	0.533000	0.62120	TTT	SOAT1	-	NULL	ENSG00000057252		0.343	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOAT1	HGNC	protein_coding	OTTHUMT00000085286.2	-	0.00	61	0	T	NM_003101		179308616	+1	tier1	-	no_errors	ENST00000367619	ensembl	human	known	74_37	missense	16.00	21	4	SNP	1.000	C
SRPK2	6733	genome.wustl.edu	37	7	104787088	104787088	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr7:104787088A>C	ENST00000393651.3	-	8	726	c.639T>G	c.(637-639)gaT>gaG	p.D213E	SRPK2_ENST00000357311.3_Missense_Mutation_p.D202E|SRPK2_ENST00000489828.1_Missense_Mutation_p.D202E	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						TGTGTAAGTAATCTAACCCTT	0.328																																																	0													118.0	105.0	109.0					7																	104787088		2203	4300	6503	SO:0001583	missense	0			U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.639T>G	7.37:g.104787088A>C	ENSP00000377262:p.Asp213Glu			Missense_Mutation	SNP	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	p.D213E	ENST00000393651.3	37	c.639	CCDS34724.1	7	.	.	.	.	.	.	.	.	.	.	A	18.58	3.655162	0.67472	.	.	ENSG00000135250	ENST00000393651;ENST00000357311;ENST00000489828	T;T;T	0.20332	2.08;2.08;2.08	5.2	1.4	0.22301	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.23133	0.0559	N	0.12831	0.26	0.58432	D	0.999998	D;D	0.61697	0.99;0.98	D;D	0.72982	0.975;0.979	T	0.02075	-1.1218	10	0.48119	T	0.1	-25.2478	9.2406	0.37493	0.789:0.0:0.211:0.0	.	213;202	P78362-2;P78362	.;SRPK2_HUMAN	E	213;202;202	ENSP00000377262:D213E;ENSP00000349863:D202E;ENSP00000419791:D202E	ENSP00000349863:D202E	D	-	3	2	SRPK2	104574324	1.000000	0.71417	0.999000	0.59377	0.935000	0.57460	3.068000	0.50018	0.061000	0.16311	0.459000	0.35465	GAT	SRPK2	-	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	ENSG00000135250		0.328	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRPK2	HGNC	protein_coding	OTTHUMT00000348723.1	-	0.00	45	0	A	NM_182691		104787088	-1	tier1	-	no_errors	ENST00000393651	ensembl	human	known	74_37	missense	22.92	37	11	SNP	1.000	C
SSTR1	6751	genome.wustl.edu	37	14	38678867	38678867	+	Silent	SNP	G	G	T			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr14:38678867G>T	ENST00000267377.2	+	3	890	c.273G>T	c.(271-273)acG>acT	p.T91T		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	91					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	AGATGAAGACGGCCACCAACA	0.547																																																	0													184.0	167.0	173.0					14																	38678867		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"""GPCR / Class A : Somatostatin receptors"""	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.273G>T	14.37:g.38678867G>T				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_1,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt,prints_Neuropept_B/W_rcpt	p.T91	ENST00000267377.2	37	c.273	CCDS9666.1	14																																																																																			SSTR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Opioid_rcpt,prints_NPY_rcpt	ENSG00000139874		0.547	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR1	HGNC	protein_coding	OTTHUMT00000409930.2		0.00	72	0	G			38678867	+1			no_errors	ENST00000267377	ensembl	human	known	74_37	silent	5.88	32	2	SNP	0.998	T
SYT10	341359	genome.wustl.edu	37	12	33529826	33529826	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr12:33529826C>T	ENST00000228567.3	-	7	1807	c.1511G>A	c.(1510-1512)cGg>cAg	p.R504Q	SYT10_ENST00000535526.1_Missense_Mutation_p.R323Q	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	504					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					ACTGGTCGCCCGGCCAGGTAA	0.393																																																	0													107.0	105.0	105.0					12																	33529826		2203	4300	6503	SO:0001583	missense	0			AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.1511G>A	12.37:g.33529826C>T	ENSP00000228567:p.Arg504Gln		Q495U2	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom	p.R504Q	ENST00000228567.3	37	c.1511	CCDS8732.1	12	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345663	0.61073	.	.	ENSG00000110975	ENST00000228567;ENST00000535526	T;T	0.50001	0.82;0.76	4.83	4.83	0.62350	.	0.000000	0.37178	U	0.002207	T	0.37945	0.1022	L	0.51422	1.61	0.53005	D	0.999967	B	0.31100	0.308	B	0.20384	0.029	T	0.20405	-1.0276	10	0.33141	T	0.24	.	11.3394	0.49525	0.0:0.9153:0.0:0.0847	.	504	Q6XYQ8	SYT10_HUMAN	Q	504;323	ENSP00000228567:R504Q;ENSP00000438691:R323Q	ENSP00000228567:R504Q	R	-	2	0	SYT10	33421093	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.776000	0.47709	2.596000	0.87737	0.655000	0.94253	CGG	SYT10	-	NULL	ENSG00000110975		0.393	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SYT10	HGNC	protein_coding	OTTHUMT00000403222.1	-	0.00	35	0	C	NM_198992		33529826	-1	tier1	-	no_errors	ENST00000228567	ensembl	human	known	74_37	missense	27.78	13	5	SNP	1.000	T
SYTL4	94121	genome.wustl.edu	37	X	99930886	99930887	+	3'UTR	INS	-	-	AC	rs10623103		TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chrX:99930886_99930887insAC	ENST00000372989.1	-	0	2485_2486				SYTL4_ENST00000276141.6_3'UTR|SYTL4_ENST00000491602.1_5'UTR|RP11-524D16__A.3_ENST00000568809.1_RNA|SYTL4_ENST00000455616.1_3'UTR|SYTL4_ENST00000454200.2_3'UTR	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TACATGTTTGTacacatacaca	0.351																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"""granuphilin-a"", ""exophilin-2"""	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.*139->GT	X.37:g.99930889_99930890dupAC			Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	RNA	INS	-	NULL	ENST00000372989.1	37	NULL	CCDS14472.1	X																																																																																			SYTL4	-	-	ENSG00000102362		0.351	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL4	HGNC	protein_coding	OTTHUMT00000057488.1		0.00	18	0	-	NM_080737		99930887	-1	tier1		no_errors	ENST00000491602	ensembl	human	known	74_37	rna	71.43	2	5	INS	0.041:0.081	AC
TADA2B	93624	genome.wustl.edu	37	4	7056555	7056555	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr4:7056555C>T	ENST00000310074.7	+	2	1226	c.1037C>T	c.(1036-1038)cCa>cTa	p.P346L	TADA2B_ENST00000515646.1_Missense_Mutation_p.P254L|TADA2B_ENST00000512388.1_Missense_Mutation_p.P271L	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	346					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						GAGAACCTTCCAGGCTTCGAG	0.512																																																	0													66.0	73.0	70.0					4																	7056555		1961	4148	6109	SO:0001583	missense	0			AK026299	CCDS47007.1	4p16.1	2009-10-02			ENSG00000173011	ENSG00000173011			30781	protein-coding gene	gene with protein product		608790				12972612, 18936164	Standard	NM_152293		Approved	MGC21874	uc003gjw.4	Q86TJ2	OTTHUMG00000159983	ENST00000310074.7:c.1037C>T	4.37:g.7056555C>T	ENSP00000308022:p.Pro346Leu		A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Missense_Mutation	SNP	pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom	p.P346L	ENST00000310074.7	37	c.1037	CCDS47007.1	4	.	.	.	.	.	.	.	.	.	.	C	12.57	1.976314	0.34848	.	.	ENSG00000173011	ENST00000310074;ENST00000512388;ENST00000515646	T;T;T	0.60424	0.19;0.19;0.19	4.72	4.72	0.59763	Homeodomain-like (1);	.	.	.	.	T	0.56891	0.2016	L	0.58583	1.82	0.51233	D	0.999916	B;B	0.18741	0.03;0.018	B;B	0.16722	0.015;0.016	T	0.56914	-0.7900	9	0.48119	T	0.1	-18.2771	17.7216	0.88353	0.0:1.0:0.0:0.0	.	271;346	Q86TJ2-2;Q86TJ2	.;TAD2B_HUMAN	L	346;271;254	ENSP00000308022:P346L;ENSP00000423947:P271L;ENSP00000423181:P254L	ENSP00000308022:P346L	P	+	2	0	TADA2B	7107456	0.992000	0.36948	0.207000	0.23584	0.246000	0.25737	5.541000	0.67212	2.189000	0.69895	0.561000	0.74099	CCA	TADA2B	-	superfamily_Homeodomain-like,pirsf_Transcriptional_adaptor_2	ENSG00000173011		0.512	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA2B	HGNC	protein_coding	OTTHUMT00000358687.2	-	0.00	27	0	C	NM_152293		7056555	+1	tier1	-	no_errors	ENST00000310074	ensembl	human	known	74_37	missense	36.36	7	4	SNP	0.793	T
TG	7038	genome.wustl.edu	37	8	133899255	133899255	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr8:133899255G>T	ENST00000220616.4	+	9	1678	c.1638G>T	c.(1636-1638)aaG>aaT	p.K546N	TG_ENST00000377869.1_Missense_Mutation_p.K546N	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	546					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.K546K(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTATGAATAAGCCAACTGTGG	0.448																																																	1	Substitution - coding silent(1)	large_intestine(1)											69.0	68.0	69.0					8																	133899255		2203	4300	6503	SO:0001583	missense	0			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.1638G>T	8.37:g.133899255G>T	ENSP00000220616:p.Lys546Asn		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.K546N	ENST00000220616.4	37	c.1638	CCDS34944.1	8	.	.	.	.	.	.	.	.	.	.	G	5.014	0.188241	0.09547	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	T;T	0.66460	-0.21;-0.2	5.29	2.43	0.29744	.	0.547506	0.17662	N	0.166300	T	0.55721	0.1938	L	0.57536	1.79	0.09310	N	1	P	0.34462	0.454	B	0.26770	0.073	T	0.53272	-0.8462	10	0.72032	D	0.01	.	7.3538	0.26706	0.4128:0.0:0.5872:0.0	.	546	P01266	THYG_HUMAN	N	546	ENSP00000367100:K546N;ENSP00000220616:K546N	ENSP00000220616:K546N	K	+	3	2	TG	133968437	0.247000	0.23920	0.012000	0.15200	0.068000	0.16541	1.080000	0.30779	0.774000	0.33427	0.557000	0.71058	AAG	TG	-	pirsf_Thyroglobulin	ENSG00000042832		0.448	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1		0.00	48	0	G	NM_003235		133899255	+1			no_errors	ENST00000220616	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.010	T
TMEM246	84302	genome.wustl.edu	37	9	104238319	104238319	+	Silent	SNP	G	G	T			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr9:104238319G>T	ENST00000374851.1	-	4	2203	c.1056C>A	c.(1054-1056)tcC>tcA	p.S352S	RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374848.3_Silent_p.S352S|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374847.1_Silent_p.S352S			Q9BRR3	TM246_HUMAN	transmembrane protein 246	352						integral component of membrane (GO:0016021)											AGTACACTTGGGACAGGTAGG	0.607																																																	0													64.0	60.0	61.0					9																	104238319		2203	4300	6503	SO:0001819	synonymous_variant	0			BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 125"""	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.1056C>A	9.37:g.104238319G>T			Q49AQ4	Silent	SNP	NULL	p.S352	ENST00000374851.1	37	c.1056	CCDS6757.1	9																																																																																			TMEM246	-	NULL	ENSG00000165152		0.607	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM246	HGNC	protein_coding	OTTHUMT00000053444.1		0.00	75	0	G	NM_032342		104238319	-1			no_errors	ENST00000374847	ensembl	human	known	74_37	silent	5.17	55	3	SNP	0.962	T
TP53I11	9537	genome.wustl.edu	37	11	44956472	44956472	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr11:44956472T>C	ENST00000533940.1	-	10	1137	c.533A>G	c.(532-534)tAc>tGc	p.Y178C	TP53I11_ENST00000395648.3_Missense_Mutation_p.Y178C|TP53I11_ENST00000531130.2_5'Flank|TP53I11_ENST00000308212.5_Missense_Mutation_p.Y178C|TP53I11_ENST00000525680.1_Missense_Mutation_p.Y178C	NM_001258320.1	NP_001245249.1	O14683	P5I11_HUMAN	tumor protein p53 inducible protein 11	178	Poly-Tyr.				negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5						TTGGTAATAGTAGTAAATGCT	0.627																																																	0													94.0	93.0	93.0					11																	44956472		2203	4299	6502	SO:0001583	missense	0			AF010315	CCDS7911.1	11p11.2	2005-09-22				ENSG00000175274			16842	protein-coding gene	gene with protein product						9305847	Standard	NM_006034		Approved	PIG11	uc001myk.3	O14683		ENST00000533940.1:c.533A>G	11.37:g.44956472T>C	ENSP00000436152:p.Tyr178Cys		Q3ZCS0	Missense_Mutation	SNP	NULL	p.Y178C	ENST00000533940.1	37	c.533	CCDS7911.1	11	.	.	.	.	.	.	.	.	.	.	T	20.7	4.041158	0.75732	.	.	ENSG00000175274	ENST00000395648;ENST00000308212;ENST00000308220;ENST00000533940;ENST00000525680	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	T	0.69097	0.3073	M	0.65975	2.015	0.53688	D	0.999977	D;D	0.89917	1.0;0.997	D;P	0.63192	0.912;0.873	T	0.72520	-0.4268	8	0.87932	D	0	.	9.2351	0.37461	0.1615:0.0:0.0:0.8385	.	125;178	Q8N8U5;O14683	.;P5I11_HUMAN	C	178;178;125;178;178	.	ENSP00000309532:Y178C	Y	-	2	0	TP53I11	44913048	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.970000	0.63742	1.932000	0.55993	0.454000	0.30748	TAC	TP53I11	-	NULL	ENSG00000175274		0.627	TP53I11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TP53I11	HGNC	protein_coding	OTTHUMT00000389909.1	-	0.00	61	0	T	NM_006034		44956472	-1	tier1	-	no_errors	ENST00000308212	ensembl	human	known	74_37	missense	16.67	20	4	SNP	1.000	C
TRPC3	7222	genome.wustl.edu	37	4	122854046	122854046	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr4:122854046C>T	ENST00000379645.3	-	2	440	c.367G>A	c.(367-369)Ggc>Agc	p.G123S	TRPC3_ENST00000264811.5_Missense_Mutation_p.G50S|TRPC3_ENST00000513531.1_Missense_Mutation_p.G50S	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	38					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GGGATGTTGCCGTACTCGGCG	0.667																																																	0													55.0	53.0	54.0					4																	122854046		2203	4300	6503	SO:0001583	missense	0			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.367G>A	4.37:g.122854046C>T	ENSP00000368966:p.Gly123Ser		A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.G123S	ENST00000379645.3	37	c.367	CCDS47130.1	4	.	.	.	.	.	.	.	.	.	.	C	36	5.833684	0.97003	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531;ENST00000502968	T;T;T;T	0.72835	-0.69;-0.69;-0.69;0.87	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.87720	0.6248	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88754	0.3252	10	0.87932	D	0	-37.2766	20.3932	0.98965	0.0:1.0:0.0:0.0	.	50;123	E9PCJ9;Q5G1L5	.;.	S	50;123;50;50	ENSP00000264811:G50S;ENSP00000368966:G123S;ENSP00000426899:G50S;ENSP00000422214:G50S	ENSP00000264811:G50S	G	-	1	0	TRPC3	123073496	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.755000	0.85180	2.824000	0.97209	0.655000	0.94253	GGC	TRPC3	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	ENSG00000138741		0.667	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC3	HGNC	protein_coding	OTTHUMT00000364252.1	-	0.00	77	0	C	NM_003305		122854046	-1	tier1	-	no_errors	ENST00000379645	ensembl	human	known	74_37	missense	20.41	39	10	SNP	1.000	T
TTC39C	125488	genome.wustl.edu	37	18	21708871	21708871	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr18:21708871C>T	ENST00000317571.3	+	11	1678	c.1442C>T	c.(1441-1443)tCa>tTa	p.S481L	TTC39C_ENST00000540918.2_Missense_Mutation_p.S174L|TTC39C_ENST00000304621.6_Missense_Mutation_p.S420L	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	481										breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						GTGGATGACTCATCTGTTGTT	0.393																																																	0													214.0	193.0	200.0					18																	21708871		2203	4300	6503	SO:0001583	missense	0			AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"""Tetratricopeptide (TTC) repeat domain containing"""	26595	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 17"""	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.1442C>T	18.37:g.21708871C>T	ENSP00000323645:p.Ser481Leu		B7WP63|J3QRR1|Q0VAJ2|Q8N284	Missense_Mutation	SNP	pfam_OMP_IML2_mit/TPR_39,pfam_Cohesin_loading_factor	p.S481L	ENST00000317571.3	37	c.1442	CCDS45839.1	18	.	.	.	.	.	.	.	.	.	.	C	17.33	3.363567	0.61513	.	.	ENSG00000168234	ENST00000304621;ENST00000317571;ENST00000540918	T;T;T	0.45276	0.9;0.9;0.9	5.81	5.81	0.92471	.	0.669582	0.15664	N	0.250729	T	0.41789	0.1174	L	0.43152	1.355	0.41453	D	0.987995	B	0.26602	0.154	B	0.31101	0.124	T	0.16364	-1.0405	10	0.27785	T	0.31	-0.2055	18.2644	0.90048	0.0:1.0:0.0:0.0	.	481	Q8N584	TT39C_HUMAN	L	420;481;174	ENSP00000306598:S420L;ENSP00000323645:S481L;ENSP00000443016:S174L	ENSP00000306598:S420L	S	+	2	0	TTC39C	19962869	0.226000	0.23696	0.944000	0.38274	0.934000	0.57294	4.357000	0.59436	2.741000	0.93983	0.655000	0.94253	TCA	TTC39C	-	pfam_OMP_IML2_mit/TPR_39	ENSG00000168234		0.393	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC39C	HGNC	protein_coding	OTTHUMT00000446107.1	-	0.00	110	0	C	NM_153211		21708871	+1	tier1	-	no_errors	ENST00000317571	ensembl	human	known	74_37	missense	27.08	70	26	SNP	0.999	T
TTN	7273	genome.wustl.edu	37	2	179600781	179600781	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr2:179600781G>A	ENST00000591111.1	-	48	13665	c.13441C>T	c.(13441-13443)Ctc>Ttc	p.L4481F	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L4798F|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.L3554F|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12236	Ig-like 25.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTCTGGAGAGAAAGGTTGGT	0.423																																																	0													56.0	54.0	55.0					2																	179600781		1895	4122	6017	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.13441C>T	2.37:g.179600781G>A	ENSP00000465570:p.Leu4481Phe		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	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	p.L3554F	ENST00000591111.1	37	c.10660		2	.	.	.	.	.	.	.	.	.	.	G	10.57	1.387588	0.25031	.	.	ENSG00000155657	ENST00000342992	T	0.46819	0.86	5.93	-2.59	0.06209	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.49338	0.1551	M	0.79693	2.465	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.53143	-0.8480	9	0.87932	D	0	.	15.3424	0.74309	0.0763:0.1871:0.7366:0.0	.	4481	Q8WZ42	TITIN_HUMAN	F	3554	ENSP00000343764:L3554F	ENSP00000343764:L3554F	L	-	1	0	TTN	179309026	1.000000	0.71417	0.389000	0.26208	0.904000	0.53231	1.105000	0.31086	-0.610000	0.05716	0.655000	0.94253	CTC	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,pfscan_Ig-like_dom	ENSG00000155657		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	46	0	G	NM_133378		179600781	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.989	A
TYR	7299	genome.wustl.edu	37	11	88911367	88911367	+	Silent	SNP	C	C	T	rs139926589		TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr11:88911367C>T	ENST00000263321.5	+	1	748	c.246C>T	c.(244-246)tcC>tcT	p.S82S	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	82					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	CGTGGCCTTCCGTCTTTTATA	0.507																																																	0								C		0,4402		0,0,2201	46.0	43.0	44.0		246	-12.1	0.0	11	dbSNP_134	44	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	TYR	NM_000372.4		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		82/530	88911367	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	0			M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.246C>T	11.37:g.88911367C>T			Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Silent	SNP	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.S82	ENST00000263321.5	37	c.246	CCDS8284.1	11																																																																																			TYR	-	superfamily_Unchr_di-copper_centre	ENSG00000077498		0.507	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYR	HGNC	protein_coding	OTTHUMT00000394045.2	-	0.00	28	0	C	NM_000372		88911367	+1	tier1	rs139926589	no_errors	ENST00000263321	ensembl	human	known	74_37	silent	21.74	18	5	SNP	0.004	T
USP51	158880	genome.wustl.edu	37	X	55515360	55515360	+	Silent	SNP	G	G	T			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chrX:55515360G>T	ENST00000500968.3	-	2	95	c.13C>A	c.(13-15)Cga>Aga	p.R5R	USP51_ENST00000586165.1_5'Flank	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	5					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						GAAGTTTCTCGAACCTGGGCC	0.577																																																	0													11.0	8.0	9.0					X																	55515360		2132	4187	6319	SO:0001819	synonymous_variant	0			BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.13C>A	X.37:g.55515360G>T			Q8IWJ8	Silent	SNP	pfam_Peptidase_C19/C67,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.R5	ENST00000500968.3	37	c.13	CCDS14370.1	X																																																																																			USP51	-	NULL	ENSG00000247746		0.577	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP51	HGNC	protein_coding	OTTHUMT00000056871.2		0.00	45	0	G	NM_201286		55515360	-1			no_errors	ENST00000500968	ensembl	human	known	74_37	silent	17.65	14	3	SNP	0.909	T
VAV1	7409	genome.wustl.edu	37	19	6826687	6826687	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr19:6826687G>T	ENST00000602142.1	+	9	974	c.892G>T	c.(892-894)Gcc>Tcc	p.A298S	VAV1_ENST00000596764.1_Missense_Mutation_p.A266S|VAV1_ENST00000599806.1_Missense_Mutation_p.A243S|VAV1_ENST00000539284.1_Missense_Mutation_p.A201S|VAV1_ENST00000304076.2_Missense_Mutation_p.A298S	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	298	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GGACCGTGTGGCCGCAGCCCG	0.672																																																	0													55.0	43.0	47.0					19																	6826687		2174	4259	6433	SO:0001583	missense	0				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.892G>T	19.37:g.6826687G>T	ENSP00000472929:p.Ala298Ser		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin	p.A298S	ENST00000602142.1	37	c.892	CCDS12174.1	19	.	.	.	.	.	.	.	.	.	.	G	8.585	0.883307	0.17467	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.61158	0.13;0.13	5.26	5.26	0.73747	Dbl homology (DH) domain (5);	0.061993	0.64402	D	0.000004	T	0.32406	0.0828	N	0.04018	-0.295	0.43183	D	0.995009	B;B;B;B	0.15930	0.01;0.015;0.0;0.002	B;B;B;B	0.24541	0.023;0.054;0.009;0.013	T	0.22730	-1.0208	10	0.09338	T	0.73	.	11.4556	0.50181	0.0:0.0:0.82:0.18	.	201;298;243;298	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	S	298;201	ENSP00000302269:A298S;ENSP00000443242:A201S	ENSP00000302269:A298S	A	+	1	0	VAV1	6777687	0.811000	0.29063	0.810000	0.32431	0.329000	0.28539	1.904000	0.39868	2.465000	0.83290	0.561000	0.74099	GCC	VAV1	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000141968		0.672	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAV1	HGNC	protein_coding	OTTHUMT00000458475.1	-	0.00	59	0	G			6826687	+1	tier1	-	no_errors	ENST00000602142	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.991	T
VWDE	221806	genome.wustl.edu	37	7	12414816	12414816	+	Silent	SNP	G	G	T			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr7:12414816G>T	ENST00000275358.3	-	8	1250	c.1062C>A	c.(1060-1062)tcC>tcA	p.S354S		NM_001135924.1	NP_001129396.1	Q8N2E2	VWDE_HUMAN	von Willebrand factor D and EGF domains	354						extracellular region (GO:0005576)				breast(4)|endometrium(2)|kidney(1)|skin(1)	8						CCACATGACAGGAAGACAGTG	0.388																																																	0													89.0	76.0	80.0					7																	12414816		692	1590	2282	SO:0001819	synonymous_variant	0				CCDS47544.1	7p21.3	2008-09-23			ENSG00000146530	ENSG00000146530			21897	protein-coding gene	gene with protein product						14702039, 16303743	Standard	NM_001135924		Approved	FLJ14712	uc003ssj.2	Q8N2E2	OTTHUMG00000152315	ENST00000275358.3:c.1062C>A	7.37:g.12414816G>T			B7ZM77|Q96SQ3	Silent	SNP	pfam_VWF_type-D,superfamily_Cadherin-like,smart_VWF_type-D,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.S354	ENST00000275358.3	37	c.1062	CCDS47544.1	7																																																																																			VWDE	-	NULL	ENSG00000146530		0.388	VWDE-001	NOVEL	basic|appris_principal|CCDS	protein_coding	VWDE	HGNC	protein_coding	OTTHUMT00000325870.3	-	0.00	42	0	G	XM_371878		12414816	-1	tier1	-	no_errors	ENST00000452576	ensembl	human	known	74_37	silent	30.00	28	12	SNP	0.990	T
YWHAH	7533	genome.wustl.edu	37	22	32353392	32353392	+	3'UTR	DEL	T	T	-			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr22:32353392delT	ENST00000248975.5	+	0	1627				YWHAH_ENST00000397492.1_3'UTR|YWHAH_ENST00000471374.1_3'UTR	NM_003405.3	NP_003396.1	Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta						apoptotic process (GO:0006915)|glucocorticoid catabolic process (GO:0006713)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular protein transport (GO:0006886)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane depolarization during action potential (GO:0086010)|membrane organization (GO:0061024)|negative regulation of dendrite morphogenesis (GO:0050774)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of sodium ion transport (GO:0002028)|regulation of synaptic plasticity (GO:0048167)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|glucocorticoid receptor binding (GO:0035259)|insulin-like growth factor receptor binding (GO:0005159)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						TACTTGTAACTTTTTTTTTTT	0.353																																					Ovarian(98;460 2060 9263 44007)												0																																										SO:0001624	3_prime_UTR_variant	0			X78138	CCDS13901.1	22q12.1-q13.1	2013-12-03	2013-12-03		ENSG00000128245	ENSG00000128245			12853	protein-coding gene	gene with protein product	"""14-3-3 eta"""	113508	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide"""	YWHA1			Standard	NM_003405		Approved		uc003alz.3	Q04917	OTTHUMG00000030833	ENST00000248975.5:c.*613T>-	22.37:g.32353392delT				RNA	DEL	-	NULL	ENST00000248975.5	37	NULL	CCDS13901.1	22																																																																																			YWHAH	-	-	ENSG00000128245		0.353	YWHAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YWHAH	HGNC	protein_coding	OTTHUMT00000075721.2		0.00	41	0	T	NM_003405		32353392	+1	tier1		no_errors	ENST00000471374	ensembl	human	known	74_37	rna	16.67	25	5	DEL	1.000	-
ZNF157	7712	genome.wustl.edu	37	X	47269756	47269756	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chrX:47269756C>A	ENST00000377073.3	+	2	240	c.154C>A	c.(154-156)Cac>Aac	p.H52N		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	52	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GAGGACCATGCACAAGGATGT	0.527																																																	0													180.0	122.0	142.0					X																	47269756		2203	4300	6503	SO:0001583	missense	0			U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"""Zinc fingers, C2H2-type"", ""-"""	12942	protein-coding gene	gene with protein product		300024	"""zinc finger protein 157 (HZF22)"""			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.154C>A	X.37:g.47269756C>A	ENSP00000366273:p.His52Asn		Q96LE9	Missense_Mutation	SNP	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	p.H52N	ENST00000377073.3	37	c.154	CCDS14278.1	X	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962723	0.53507	.	.	ENSG00000147117	ENST00000377073	T	0.01725	4.67	2.76	1.89	0.25635	Krueppel-associated box (4);	.	.	.	.	T	0.03520	0.0101	L	0.45352	1.415	0.23376	N	0.997808	D	0.58268	0.982	P	0.54856	0.762	T	0.44922	-0.9296	9	0.87932	D	0	.	4.4173	0.11463	0.0:0.675:0.0:0.3249	.	52	P51786	ZN157_HUMAN	N	52	ENSP00000366273:H52N	ENSP00000366273:H52N	H	+	1	0	ZNF157	47154700	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	2.200000	0.42724	0.597000	0.29811	0.423000	0.28283	CAC	ZNF157	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000147117		0.527	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF157	HGNC	protein_coding	OTTHUMT00000056415.1	-	0.00	198	0	C	NM_003446		47269756	+1	tier1	-	no_errors	ENST00000377073	ensembl	human	known	74_37	missense	8.24	245	22	SNP	1.000	A
ZNF544	27300	genome.wustl.edu	37	19	58772365	58772365	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr19:58772365G>T	ENST00000596652.1	+	6	627	c.393G>T	c.(391-393)caG>caT	p.Q131H	ZNF544_ENST00000599953.1_5'UTR|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000269829.4_Missense_Mutation_p.Q131H|ZNF544_ENST00000600220.1_Missense_Mutation_p.Q103H|ZNF544_ENST00000599227.1_3'UTR|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000600044.1_Missense_Mutation_p.Q103H|ZNF544_ENST00000415203.2_Missense_Mutation_p.Q103H			Q6NX49	ZN544_HUMAN	zinc finger protein 544	131					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		AGAGCAACCAGTTAAGGGAAC	0.502																																																	0													97.0	90.0	92.0					19																	58772365		2203	4300	6503	SO:0001583	missense	0			AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.393G>T	19.37:g.58772365G>T	ENSP00000469635:p.Gln131His		A8K6J1|Q9UEX4	Missense_Mutation	SNP	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	p.Q131H	ENST00000596652.1	37	c.393	CCDS12973.1	19	.	.	.	.	.	.	.	.	.	.	G	4.351	0.064558	0.08388	.	.	ENSG00000198131	ENST00000269829;ENST00000415203	T;T	0.08546	3.12;3.08	3.12	-5.19	0.02832	.	.	.	.	.	T	0.03608	0.0103	N	0.19112	0.55	0.09310	N	1	B;B;B	0.13145	0.006;0.006;0.007	B;B;B	0.10450	0.005;0.005;0.0	T	0.44390	-0.9331	9	0.23302	T	0.38	.	0.8238	0.01116	0.3461:0.1506:0.3306:0.1726	.	103;103;131	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	H	131;103	ENSP00000269829:Q131H;ENSP00000394341:Q103H	ENSP00000269829:Q131H	Q	+	3	2	ZNF544	63464177	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-1.109000	0.02996	-1.047000	0.02352	CAG	ZNF544	-	NULL	ENSG00000198131		0.502	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF544	HGNC	protein_coding	OTTHUMT00000466754.1	-	0.00	47	0	G	NM_014480		58772365	+1	tier1	-	no_errors	ENST00000269829	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.000	T
ZNF81	347344	genome.wustl.edu	37	X	47775628	47775628	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chrX:47775628G>T	ENST00000376954.1	+	6	1951	c.1583G>T	c.(1582-1584)tGt>tTt	p.C528F	ZNF81_ENST00000338637.7_Missense_Mutation_p.C528F			P51508	ZNF81_HUMAN	zinc finger protein 81	528					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				TCTTATATATGTGCTGAATGT	0.433																																																	0													58.0	57.0	57.0					X																	47775628		2146	4264	6410	SO:0001583	missense	0			AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"""Zinc fingers, C2H2-type"", ""-"""	13156	protein-coding gene	gene with protein product		314998	"""zinc finger protein 81 (HFZ20)"", ""mental retardation, X-linked 45"""	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.1583G>T	X.37:g.47775628G>T	ENSP00000366153:p.Cys528Phe		Q6RX22|Q96QH6	Missense_Mutation	SNP	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	p.C528F	ENST00000376954.1	37	c.1583	CCDS43933.1	X	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271097	0.59540	.	.	ENSG00000197779	ENST00000376954;ENST00000338637	D;D	0.85088	-1.94;-1.94	4.32	4.32	0.51571	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44097	D	0.000494	D	0.95027	0.8390	H	0.98111	4.15	0.41567	D	0.988662	D	0.89917	1.0	D	0.97110	1.0	D	0.96486	0.9360	10	0.87932	D	0	.	13.723	0.62740	0.0:0.0:1.0:0.0	.	528	P51508	ZNF81_HUMAN	F	528	ENSP00000366153:C528F;ENSP00000341151:C528F	ENSP00000341151:C528F	C	+	2	0	ZNF81	47660572	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.894000	0.92506	2.408000	0.81797	0.544000	0.68410	TGT	ZNF81	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197779		0.433	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF81	HGNC	protein_coding	OTTHUMT00000056455.2	-	0.00	71	0	G	NM_007137		47775628	+1	tier1	-	no_errors	ENST00000338637	ensembl	human	known	74_37	missense	26.83	60	22	SNP	1.000	T
