#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_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_Chromosome_hg18	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_End_position_hg18	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_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_classification	i_context	i_dataset	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_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_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_type
SERPINF1	5176	genome.wustl.edu	37	17	1674326	1674326	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1332-01	TCGA-04-1332-10	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-04-1332-01	TCGA-04-1332-10	g.chr17:1674326C>T	ENST00000254722.4	+	4	450	c.287C>T	c.(286-288)gCg>gTg	p.A96V	SERPINF1_ENST00000571870.1_3'UTR	NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	96					aging (GO:0007568)|cell proliferation (GO:0008283)|kidney development (GO:0001822)|multicellular organismal development (GO:0007275)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of inflammatory response (GO:0050728)|positive regulation of neurogenesis (GO:0050769)|regulation of proteolysis (GO:0030162)|response to glucocorticoid (GO:0051384)|response to retinoic acid (GO:0032526)|short-term memory (GO:0007614)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A96V(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						CTGGCAGGAGCGGAGCAGCGA	0.517																																																1	Substitution - Missense(1)	ovary(1)	17											132.0	130.0	131.0					17																	1674326		2203	4300	6503	1621076	SO:0001583	missense	5176			M76979	CCDS11012.1	17p13.3	2014-02-18	2005-08-18		ENSG00000132386	ENSG00000132386		"""Serine (or cysteine) peptidase inhibitors"""	8824	protein-coding gene	gene with protein product	"""pigment epithelium-derived factor"", ""proliferation-inducing protein 35"""	172860	"""serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1"""	PEDF		8434014, 24172014	Standard	NM_002615		Approved	EPC-1, PIG35	uc002ftl.3	P36955	OTTHUMG00000090571	ENST00000254722.4:c.287C>T	17.37:g.1674326C>T	ENSP00000254722:p.Ala96Val		1621076	F1T092|Q13236|Q2TU83|Q96CT1|Q96R01|Q9BWA4	Missense_Mutation	SNP	ENST00000254722.4	37	CCDS11012.1	SNP	27	WashU	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519947	0.85495	.	.	ENSG00000132386	ENST00000254722	T	0.56103	0.48	5.21	5.21	0.72293	Serpin domain (3);	0.158164	0.56097	D	0.000039	T	0.66597	0.2805	M	0.78456	2.415	0.80722	D	1	D	0.64830	0.994	P	0.54401	0.751	T	0.72276	-0.4341	10	0.87932	D	0	.	14.4357	0.67279	0.0:0.8528:0.1472:0.0	.	96	P36955	PEDF_HUMAN	V	96	ENSP00000254722:A96V	ENSP00000254722:A96V	A	+	2	0	SERPINF1	1621076	1.000000	0.71417	0.998000	0.56505	0.820000	0.46376	3.588000	0.53964	2.434000	0.82447	0.650000	0.86243	GCG		0.517	SERPINF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207109.4	NM_002615		Missense_Mutation
RANBP6	26953	genome.wustl.edu	37	9	6014609	6014609	+	Silent	SNP	A	A	G			TCGA-04-1332-01	TCGA-04-1332-10	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-04-1332-01	TCGA-04-1332-10	g.chr9:6014609A>G	ENST00000259569.5	-	1	1009	c.999T>C	c.(997-999)gaT>gaC	p.D333D	RANBP6_ENST00000485372.1_Intron	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	333	Ran-GTP binding. {ECO:0000250}.				protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D333D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		CTTCCATTTCATCAGCATTTA	0.403																																																1	Substitution - coding silent(1)	ovary(1)	9											91.0	84.0	86.0					9																	6014609		2203	4300	6503	6004609	SO:0001819	synonymous_variant	26953			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.999T>C	9.37:g.6014609A>G			6004609	Q5T7X4|Q7Z3V2|Q96E78	Silent	SNP	ENST00000259569.5	37	CCDS6467.1	SNP	8	WashU																																																																																				0.403	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		Silent
TP53	7157	genome.wustl.edu	37	17	7578388	7578388	+	Missense_Mutation	SNP	C	C	G	rs397514495		TCGA-04-1332-01	TCGA-04-1332-10	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-04-1332-01	TCGA-04-1332-10	g.chr17:7578388C>G	ENST00000269305.4	-	5	731	c.542G>C	c.(541-543)cGc>cCc	p.R181P	TP53_ENST00000359597.4_Missense_Mutation_p.R181P|TP53_ENST00000420246.2_Missense_Mutation_p.R181P|TP53_ENST00000445888.2_Missense_Mutation_p.R181P|TP53_ENST00000413465.2_Missense_Mutation_p.R181P|TP53_ENST00000455263.2_Missense_Mutation_p.R181P|TP53_ENST00000574684.1_5'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	181	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R181H(21)|p.R181P(14)|p.P177_C182delPHHERC(8)|p.0?(8)|p.R181L(3)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R49P(1)|p.C176fs*65(1)|p.R181C(1)|p.V173fs*23(1)|p.R181>XXXXXXX(1)|p.R88P(1)|p.R81fs*24(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E180_S183del(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATCTGAGCAGCGCTCATGGTG	0.637		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	80	Substitution - Missense(41)|Deletion - In frame(17)|Deletion - Frameshift(13)|Whole gene deletion(8)|Complex - insertion inframe(1)	large_intestine(17)|upper_aerodigestive_tract(14)|ovary(7)|central_nervous_system(6)|lung(6)|bone(5)|breast(5)|oesophagus(4)|urinary_tract(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(2)|liver(2)|pancreas(2)|prostate(2)|kidney(1)|biliary_tract(1)|endometrium(1)	17	GRCh37	CM056067|CM920671|CM942120	TP53	M							47.0	47.0	47.0					17																	7578388		2203	4300	6503	7519113	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.542G>C	17.37:g.7578388C>G	ENSP00000269305:p.Arg181Pro		7519113	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	SNP	27	WashU	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377445	0.61735	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99773	-6.72;-6.72;-6.72;-6.72;-6.72;-6.72;-6.72;-6.72	5.26	4.28	0.50868	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99711	0.9889	M	0.83953	2.67	0.51482	D	0.999922	D;D;D;D;D;D;D	0.76494	0.998;0.996;0.987;0.999;0.992;0.996;0.999	D;D;P;D;D;D;D	0.76575	0.948;0.974;0.839;0.939;0.979;0.988;0.978	D	0.97421	1.0009	10	0.87932	D	0	-14.2374	13.4086	0.60929	0.1583:0.8417:0.0:0.0	.	142;181;181;88;181;181;181	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	P	181;181;181;181;181;181;170;88;49;88;49	ENSP00000410739:R181P;ENSP00000352610:R181P;ENSP00000269305:R181P;ENSP00000398846:R181P;ENSP00000391127:R181P;ENSP00000391478:R181P;ENSP00000425104:R49P;ENSP00000423862:R88P	ENSP00000269305:R181P	R	-	2	0	TP53	7519113	0.764000	0.28473	0.996000	0.52242	0.802000	0.45316	1.201000	0.32259	1.345000	0.45676	0.563000	0.77884	CGC		0.637	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		Missense_Mutation
DNAH11	8701	genome.wustl.edu	37	7	21847510	21847510	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1332-01	TCGA-04-1332-10	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-04-1332-01	TCGA-04-1332-10	g.chr7:21847510G>A	ENST00000409508.3	+	63	10206	c.10175G>A	c.(10174-10176)cGc>cAc	p.R3392H	DNAH11_ENST00000328843.6_Missense_Mutation_p.R3399H	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3399	Stalk. {ECO:0000250}.				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)	p.R3399H(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAGAAGATTCGCTGGGGTCAA	0.438									Kartagener syndrome																																							1	Substitution - Missense(1)	ovary(1)	7											68.0	67.0	67.0					7																	21847510		1895	4113	6008	21814035	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.10175G>A	7.37:g.21847510G>A	ENSP00000475939:p.Arg3392His		21814035	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		SNP	38	WashU	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994823	0.93167	.	.	ENSG00000105877	ENST00000328843	T	0.80994	-1.44	6.02	6.02	0.97574	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.89760	0.6808	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90326	0.4348	9	0.87932	D	0	.	14.6737	0.68964	0.0707:0.0:0.9293:0.0	.	3399	Q96DT5	DYH11_HUMAN	H	3399	ENSP00000330671:R3399H	ENSP00000330671:R3399H	R	+	2	0	DNAH11	21814035	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.691000	0.61738	2.865000	0.98341	0.655000	0.94253	CGC		0.438	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		Missense_Mutation
EPHB2	2048	genome.wustl.edu	37	1	23191679	23191679	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1332-01	TCGA-04-1332-10	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-04-1332-01	TCGA-04-1332-10	g.chr1:23191679C>G	ENST00000400191.3	+	5	1295	c.1277C>G	c.(1276-1278)tCt>tGt	p.S426C	EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000544305.1_Missense_Mutation_p.S426C|EPHB2_ENST00000374627.1_Missense_Mutation_p.S420C|EPHB2_ENST00000374630.3_Missense_Mutation_p.S426C|EPHB2_ENST00000374632.3_Missense_Mutation_p.S426C|MIR4253_ENST00000581187.1_RNA	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	426	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)	p.S426C(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CAGTTCGCCTCTGTGAACATC	0.597																																																1	Substitution - Missense(1)	ovary(1)	1											114.0	98.0	103.0					1																	23191679		2203	4300	6503	23064266	SO:0001583	missense	2048			AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.1277C>G	1.37:g.23191679C>G	ENSP00000383053:p.Ser426Cys		23064266	O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37		SNP	32	WashU	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582680	0.86748	.	.	ENSG00000133216	ENST00000374625;ENST00000544305;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54	4.99	4.99	0.66335	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.75148	0.3810	M	0.88105	2.93	0.80722	D	1	B;D;P;P	0.56287	0.204;0.975;0.921;0.952	B;P;P;P	0.61201	0.05;0.687;0.687;0.885	T	0.80792	-0.1224	10	0.87932	D	0	.	17.0002	0.86380	0.0:1.0:0.0:0.0	.	426;426;444;426	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	C	426;426;426;426;426;420	ENSP00000444174:S426C;ENSP00000363761:S426C;ENSP00000383053:S426C;ENSP00000363763:S426C;ENSP00000363758:S420C	ENSP00000363755:S426C	S	+	2	0	EPHB2	23064266	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.651000	0.83577	2.579000	0.87056	0.462000	0.41574	TCT		0.597	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		Missense_Mutation
FRY	10129	genome.wustl.edu	37	13	32835643	32835643	+	Intron	SNP	A	A	G			TCGA-04-1332-01	TCGA-04-1332-10	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-04-1332-01	TCGA-04-1332-10	g.chr13:32835643A>G	ENST00000380250.3	+	52	7912					NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ATGAGGGCCTAAGAGTTAATA	0.368																																																0			13											94.0	93.0	93.0					13																	32835643		876	1991	2867	31733643	SO:0001627	intron_variant	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.7417-110A>G	13.37:g.32835643A>G			31733643	Q9Y3N6	Silent	SNP	ENST00000380250.3	37	CCDS41875.1	SNP	13	WashU																																																																																				0.368	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		Silent
PSTPIP2	9050	genome.wustl.edu	37	18	43578790	43578790	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1332-01	TCGA-04-1332-10	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-04-1332-01	TCGA-04-1332-10	g.chr18:43578790C>T	ENST00000409746.5	-	8	603	c.532G>A	c.(532-534)Gca>Aca	p.A178T	PSTPIP2_ENST00000589328.1_Missense_Mutation_p.A178T|PSTPIP2_ENST00000588801.1_5'UTR	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2	178						cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)		p.A178T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						TTTGAAGTTGCCAGTTTCACA	0.478																																																1	Substitution - Missense(1)	ovary(1)	18											103.0	103.0	103.0					18																	43578790		2203	4300	6503	41832788	SO:0001583	missense	9050				CCDS32820.2	18q12	2008-07-28			ENSG00000152229	ENSG00000152229			9581	protein-coding gene	gene with protein product						9804817	Standard	NM_024430		Approved		uc002lbp.4	Q9H939	OTTHUMG00000152674	ENST00000409746.5:c.532G>A	18.37:g.43578790C>T	ENSP00000387261:p.Ala178Thr		41832788		Missense_Mutation	SNP	ENST00000409746.5	37	CCDS32820.2	SNP	26	WashU	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566606	0.86439	.	.	ENSG00000152229	ENST00000409746;ENST00000360076	T	0.42900	0.96	5.36	5.36	0.76844	.	0.204155	0.43919	D	0.000508	T	0.58395	0.2119	M	0.79475	2.455	0.45261	D	0.99826	D;D	0.65815	0.981;0.995	P;P	0.55923	0.761;0.787	T	0.55842	-0.8077	10	0.15066	T	0.55	.	17.8464	0.88731	0.0:1.0:0.0:0.0	.	178;178	Q9H939-2;Q9H939	.;PPIP2_HUMAN	T	178	ENSP00000387261:A178T	ENSP00000353189:A178T	A	-	1	0	PSTPIP2	41832788	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.326000	0.59241	2.500000	0.84329	0.555000	0.69702	GCA		0.478	PSTPIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327522.1			Missense_Mutation
WDR87	83889	genome.wustl.edu	37	19	38383767	38383767	+	Missense_Mutation	SNP	T	T	G	rs140149327	byFrequency	TCGA-04-1332-01	TCGA-04-1332-10	T	T	G	G	G	G	Unknown	Valid	Germline	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-04-1332-01	TCGA-04-1332-10	g.chr19:38383767T>G	ENST00000303868.5	-	4	2683	c.2459A>C	c.(2458-2460)cAa>cCa	p.Q820P	WDR87_ENST00000447313.2_Missense_Mutation_p.Q859P	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	820										NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						AAAGAATTCTTGAGACCTGTC	0.473													T|||	29	0.00579073	0.0023	0.0029	5008	,	,		21204	0.0		0.0189	False		,,,				2504	0.0051															0			19											94.0	76.0	82.0					19																	38383767		692	1591	2283	43075607	SO:0001583	missense	83889			AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.2459A>C	19.37:g.38383767T>G	ENSP00000368025:p.Gln820Pro		43075607	Q9BWV9	Missense_Mutation	SNP	ENST00000303868.5	37	CCDS46063.1	SNP	63	WashU	234	0.10714285714285714	78	0.15853658536585366	28	0.07734806629834254	37	0.06468531468531469	91	0.12005277044854881	T	0.165	-1.077672	0.01903	.	.	ENSG00000171804	ENST00000447313;ENST00000303868	T;T	0.11169	2.8;2.81	5.82	2.46	0.29980	.	0.629005	0.14090	N	0.342086	T	0.00039	0.0001	L	0.51422	1.61	0.09310	N	1	B;B	0.14805	0.011;0.011	B;B	0.14023	0.01;0.01	T	0.38067	-0.9678	10	0.56958	D	0.05	-0.7968	5.8179	0.18506	0.294:0.0:0.1534:0.5526	.	820;859	Q6ZQQ6;E7ESW6	WDR87_HUMAN;.	P	859;820	ENSP00000405012:Q859P;ENSP00000368025:Q820P	ENSP00000368025:Q820P	Q	-	2	0	WDR87	43075607	0.044000	0.20184	0.001000	0.08648	0.024000	0.10985	1.570000	0.36439	0.084000	0.17077	-0.350000	0.07774	CAA		0.473	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314628.2	XM_940478		Missense_Mutation
PORCN	64840	genome.wustl.edu	37	X	48369686	48369686	+	Missense_Mutation	SNP	T	T	G			TCGA-04-1332-01	TCGA-04-1332-10	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-04-1332-01	TCGA-04-1332-10	g.chrX:48369686T>G	ENST00000326194.6	+	2	183	c.140T>G	c.(139-141)tTg>tGg	p.L47W	AF196972.9_ENST00000445586.1_RNA|PORCN_ENST00000537758.1_Missense_Mutation_p.L47W|PORCN_ENST00000361988.3_Missense_Mutation_p.L47W|PORCN_ENST00000359882.4_Missense_Mutation_p.L47W|PORCN_ENST00000355961.4_Missense_Mutation_p.L47W|PORCN_ENST00000367574.4_Intron|PORCN_ENST00000355092.3_Missense_Mutation_p.L47W|PORCN_ENST00000486272.1_3'UTR	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	47	Leu-rich.				glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)	p.L47W(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCCAAAGGGTTGCCATCCTAC	0.562											OREG0019764	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	X											104.0	90.0	95.0					X																	48369686		2203	4300	6503	48254630	SO:0001583	missense	64840			AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"""dermal hypoplasia, focal"""	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.140T>G	X.37:g.48369686T>G	ENSP00000322304:p.Leu47Trp	954	48254630	B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Missense_Mutation	SNP	ENST00000326194.6	37	CCDS14299.1	SNP	63	WashU	.	.	.	.	.	.	.	.	.	.	T	23.0	4.360522	0.82353	.	.	ENSG00000102312	ENST00000359882;ENST00000537758;ENST00000355961;ENST00000489940;ENST00000361988;ENST00000326194;ENST00000355092	D;D;D;D;D;D;D	0.98060	-3.7;-4.69;-3.71;-2.69;-3.7;-4.69;-3.7	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000002	D	0.98166	0.9394	M	0.68317	2.08	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.998;0.999;0.999;1.0	D;D;D;D;D	0.97110	0.972;0.933;0.972;0.972;1.0	D	0.98368	1.0552	10	0.51188	T	0.08	-6.9954	11.1867	0.48660	0.0:0.0:0.0:1.0	.	47;47;47;47;47	Q9H237-3;Q9H237;Q9H237-4;Q9H237-2;C9JWI5	.;PORCN_HUMAN;.;.;.	W	47	ENSP00000352946:L47W;ENSP00000446401:L47W;ENSP00000348233:L47W;ENSP00000419212:L47W;ENSP00000354978:L47W;ENSP00000322304:L47W;ENSP00000347207:L47W	ENSP00000322304:L47W	L	+	2	0	PORCN	48254630	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	5.160000	0.64929	1.913000	0.55393	0.481000	0.45027	TTG		0.562	PORCN-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356990.1	NM_022825		Missense_Mutation
RELB	5971	genome.wustl.edu	37	19	45537526	45537526	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1332-01	TCGA-04-1332-10	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	TCGA-04-1332-01	TCGA-04-1332-10	g.chr19:45537526G>A	ENST00000221452.8	+	10	1382	c.1232G>A	c.(1231-1233)cGg>cAg	p.R411Q	RELB_ENST00000540120.1_Missense_Mutation_p.R411Q|RELB_ENST00000505236.1_Missense_Mutation_p.R408Q	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	411	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.			R -> A (in Ref. 1; AAA36127). {ECO:0000305}.	antigen processing and presentation (GO:0019882)|circadian regulation of gene expression (GO:0032922)|myeloid dendritic cell differentiation (GO:0043011)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of gene expression (GO:0010628)|T-helper 1 cell differentiation (GO:0045063)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R411Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GACAAGAAGCGGAAACGGGGG	0.498																																																1	Substitution - Missense(1)	ovary(1)	19											54.0	57.0	56.0					19																	45537526		1951	4146	6097	50229366	SO:0001583	missense	5971			M83221	CCDS46110.1	19q13.32	2013-07-09	2013-07-09		ENSG00000104856	ENSG00000104856			9956	protein-coding gene	gene with protein product		604758	"""v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)"""			1531086	Standard	NM_006509		Approved	REL-B	uc021uvp.1	Q01201	OTTHUMG00000162116	ENST00000221452.8:c.1232G>A	19.37:g.45537526G>A	ENSP00000221452:p.Arg411Gln		50229366	Q6GTX7|Q9UEI7	Missense_Mutation	SNP	ENST00000221452.8	37	CCDS46110.1	SNP	39	WashU	.	.	.	.	.	.	.	.	.	.	G	24.7	4.557926	0.86231	.	.	ENSG00000104856	ENST00000221452;ENST00000540120;ENST00000505236	T;T;T	0.38560	1.13;1.13;1.13	4.82	4.82	0.62117	.	0.000000	0.64402	D	0.000008	T	0.66557	0.2801	M	0.87758	2.905	0.48236	D	0.999615	D	0.89917	1.0	D	0.67900	0.954	T	0.72887	-0.4156	10	0.87932	D	0	-8.3957	13.2639	0.60122	0.0:0.0:1.0:0.0	.	408	D6R992	.	Q	411;411;408	ENSP00000221452:R411Q;ENSP00000445542:R411Q;ENSP00000423287:R408Q	ENSP00000221452:R411Q	R	+	2	0	RELB	50229366	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.828000	0.62730	2.501000	0.84356	0.563000	0.77884	CGG		0.498	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000367361.2			Missense_Mutation
ERCC6	2074	genome.wustl.edu	37	10	50708600	50708600	+	Missense_Mutation	SNP	G	G	C	rs115582915	byFrequency	TCGA-04-1332-01	TCGA-04-1332-10	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-04-1332-01	TCGA-04-1332-10	g.chr10:50708600G>C	ENST00000355832.5	-	7	1747	c.1669C>G	c.(1669-1671)Cgt>Ggt	p.R557G	ERCC6_ENST00000542458.1_5'UTR	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	557	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)	p.R557G(1)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTTGAACCACGAGTCCTGATC	0.483								Direct reversal of damage;Nucleotide excision repair (NER)																																								1	Substitution - Missense(1)	ovary(1)	10											157.0	135.0	143.0					10																	50708600		2203	4300	6503	50378606	SO:0001583	missense	2074			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.1669C>G	10.37:g.50708600G>C	ENSP00000348089:p.Arg557Gly		50378606	D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	CCDS7229.1	SNP	37	WashU	.	.	.	.	.	.	.	.	.	.	G	13.41	2.229369	0.39399	.	.	ENSG00000225830	ENST00000355832	D	0.92911	-3.13	5.87	5.87	0.94306	DEAD-like helicase (2);SNF2-related (1);	.	.	.	.	D	0.94739	0.8302	L	0.56280	1.765	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.94512	0.7719	9	0.72032	D	0.01	-9.9561	15.3178	0.74095	0.0:0.0:0.8602:0.1398	.	557	Q03468	ERCC6_HUMAN	G	557	ENSP00000348089:R557G	ENSP00000348089:R557G	R	-	1	0	ERCC6	50378606	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.146000	0.71777	2.941000	0.99782	0.655000	0.94253	CGT		0.483	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		Missense_Mutation
RSPH6A	81492	genome.wustl.edu	37	19	46303754	46303754	+	Silent	SNP	G	G	C			TCGA-04-1332-01	TCGA-04-1332-10	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-04-1332-01	TCGA-04-1332-10	g.chr19:46303754G>C	ENST00000221538.3	-	5	2008	c.1866C>G	c.(1864-1866)gcC>gcG	p.A622A	RSPH6A_ENST00000597055.1_Silent_p.A622A|RSPH6A_ENST00000600188.1_Silent_p.A358A	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	622	Glu-rich.					intracellular (GO:0005622)		p.A622A(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						AGCGCACAACGGCCACTGAGT	0.637																																																1	Substitution - coding silent(1)	ovary(1)	19											51.0	48.0	49.0					19																	46303754		2203	4300	6503	50995594	SO:0001819	synonymous_variant	81492			AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.1866C>G	19.37:g.46303754G>C			50995594	Q53FE2|Q6PEZ9	Silent	SNP	ENST00000221538.3	37	CCDS12675.1	SNP	39	WashU																																																																																				0.637	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			Silent
B3GNT2	10678	genome.wustl.edu	37	2	62449866	62449866	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1332-01	TCGA-04-1332-10	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-04-1332-01	TCGA-04-1332-10	g.chr2:62449866G>A	ENST00000301998.4	+	2	763	c.511G>A	c.(511-513)Gca>Aca	p.A171T	B3GNT2_ENST00000405767.1_Missense_Mutation_p.A171T	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	171					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)	p.A171T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			AGAAAGCAACGCAGGGAACCA	0.527																																																1	Substitution - Missense(1)	ovary(1)	2											56.0	58.0	58.0					2																	62449866		2203	4300	6503	62303370	SO:0001583	missense	10678			AB049584	CCDS1870.1	2p15	2013-02-19	2006-04-12	2006-04-12	ENSG00000170340	ENSG00000170340		"""Beta 3-glycosyltransferases"""	15629	protein-coding gene	gene with protein product		605581	"""UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1"""	B3GNT1		9892646, 11042166	Standard	NM_006577		Approved	B3GNT-2, BETA3GNT, B3GN-T2, B3GN-T1	uc002sbs.3	Q9NY97	OTTHUMG00000129444	ENST00000301998.4:c.511G>A	2.37:g.62449866G>A	ENSP00000305595:p.Ala171Thr		62303370	Q54AC1|Q9NQQ9|Q9NQR0|Q9NUT9	Missense_Mutation	SNP	ENST00000301998.4	37	CCDS1870.1	SNP	38	WashU	.	.	.	.	.	.	.	.	.	.	G	0.334	-0.954133	0.02285	.	.	ENSG00000170340	ENST00000301998;ENST00000405767	T;T	0.45668	0.89;0.89	5.74	1.4	0.22301	.	1.244490	0.05367	N	0.534787	T	0.28764	0.0713	L	0.28192	0.835	0.09310	N	1	B	0.22800	0.075	B	0.18871	0.023	T	0.20773	-1.0265	10	0.33940	T	0.23	.	4.4594	0.11659	0.212:0.0861:0.5645:0.1374	.	171	Q9NY97	B3GN2_HUMAN	T	171	ENSP00000305595:A171T;ENSP00000384692:A171T	ENSP00000305595:A171T	A	+	1	0	B3GNT2	62303370	0.000000	0.05858	0.015000	0.15790	0.008000	0.06430	0.105000	0.15333	0.086000	0.17137	-0.813000	0.03139	GCA		0.527	B3GNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251606.2	NM_006577		Missense_Mutation
ADAMTS14	140766	genome.wustl.edu	37	10	72520231	72520231	+	Silent	SNP	G	G	C	rs145472010		TCGA-04-1332-01	TCGA-04-1332-10	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	TCGA-04-1332-01	TCGA-04-1332-10	g.chr10:72520231G>C	ENST00000373207.1	+	22	3294	c.3294G>C	c.(3292-3294)tcG>tcC	p.S1098S	ADAMTS14_ENST00000373208.1_Silent_p.S1101S	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1098					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						AGAAGGCCTCGGGCcccaacc	0.632																																																0			10											55.0	52.0	53.0					10																	72520231		2203	4300	6503	72190237	SO:0001819	synonymous_variant	140766			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.3294G>C	10.37:g.72520231G>C			72190237	Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Silent	SNP	ENST00000373207.1	37	CCDS7306.1	SNP	39	WashU																																																																																				0.632	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		Silent
PAPLN	89932	genome.wustl.edu	37	14	73717706	73717706	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1332-01	TCGA-04-1332-10	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-04-1332-01	TCGA-04-1332-10	g.chr14:73717706C>A	ENST00000554301.1	+	6	720	c.557C>A	c.(556-558)gCa>gAa	p.A186E	PAPLN_ENST00000427855.1_Missense_Mutation_p.A186E|PAPLN_ENST00000555445.1_Missense_Mutation_p.A186E|PAPLN_ENST00000340738.5_Missense_Mutation_p.A186E|PAPLN_ENST00000381166.3_Missense_Mutation_p.A186E			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	186						basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.A186E(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		TACCCCGTCGCAGGCACCTTT	0.637																																																1	Substitution - Missense(1)	ovary(1)	14											99.0	86.0	90.0					14																	73717706		2203	4300	6503	72787459	SO:0001583	missense	89932			BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.557C>A	14.37:g.73717706C>A	ENSP00000451803:p.Ala186Glu		72787459	B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	37		SNP	25	WashU	.	.	.	.	.	.	.	.	.	.	c	10.99	1.507401	0.27036	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	4.33	-0.144	0.13440	ADAM-TS Spacer 1 (1);	.	.	.	.	T	0.34890	0.0913	N	0.04768	-0.165	0.18873	N	0.999986	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.17868	-1.0355	9	0.12766	T	0.61	.	2.1136	0.03708	0.2957:0.3145:0.2889:0.1009	.	186;186;186	O95428-5;O95428;O95428-6	.;PPN_HUMAN;.	E	186	ENSP00000345395:A186E;ENSP00000403403:A186E;ENSP00000370558:A186E;ENSP00000451803:A186E;ENSP00000451729:A186E	ENSP00000216658:A186E	A	+	2	0	PAPLN	72787459	0.667000	0.27484	0.168000	0.22838	0.780000	0.44128	0.641000	0.24720	0.157000	0.19338	0.550000	0.68814	GCA		0.637	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		Missense_Mutation
CFAP70	118491	genome.wustl.edu	37	10	75113461	75113461	+	Missense_Mutation	SNP	C	C	A	rs140163805		TCGA-04-1332-01	TCGA-04-1332-10	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-04-1332-01	TCGA-04-1332-10	g.chr10:75113461C>A	ENST00000310715.3	-	3	223	c.103G>T	c.(103-105)Gca>Tca	p.A35S	TTC18_ENST00000401621.2_Missense_Mutation_p.A35S|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000394865.1_Missense_Mutation_p.A35S|TTC18_ENST00000340329.3_Missense_Mutation_p.A35S	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		35						extracellular vesicular exosome (GO:0070062)		p.A35S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TTGAATTCTGCTCGAATAAAG	0.363																																																1	Substitution - Missense(1)	ovary(1)	10						C	SER/ALA	0,4406		0,0,2203	102.0	93.0	96.0		103	5.2	1.0	10	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	missense	TTC18	NM_145170.3	99	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	benign	35/1122	75113461	1,13005	2203	4300	6503	74783467	SO:0001583	missense	118491																														ENST00000310715.3:c.103G>T	10.37:g.75113461C>A	ENSP00000310829:p.Ala35Ser		74783467	C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Missense_Mutation	SNP	ENST00000310715.3	37	CCDS7324.3	SNP	28	WashU	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899372	0.52227	0.0	1.16E-4	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000340329;ENST00000372928;ENST00000394865;ENST00000394862	T;T;T;T	0.27256	1.68;1.68;1.68;1.68	5.25	5.25	0.73442	.	0.227351	0.44483	D	0.000442	T	0.20780	0.0500	L	0.50333	1.59	0.30165	N	0.801843	P	0.45176	0.852	B	0.34180	0.177	T	0.28554	-1.0040	10	0.48119	T	0.1	0.0932	11.4439	0.50112	0.1801:0.8199:0.0:0.0	.	35	Q5T0N1	TTC18_HUMAN	S	35	ENSP00000310829:A35S;ENSP00000384479:A35S;ENSP00000343650:A35S;ENSP00000378334:A35S	ENSP00000310829:A35S	A	-	1	0	TTC18	74783467	0.998000	0.40836	1.000000	0.80357	0.960000	0.62799	2.991000	0.49409	2.430000	0.82344	0.561000	0.74099	GCA		0.363	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				Missense_Mutation
AP3B2	8120	genome.wustl.edu	37	15	83331586	83331586	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1332-01	TCGA-04-1332-10	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-04-1332-01	TCGA-04-1332-10	g.chr15:83331586C>T	ENST00000261722.3	-	22	2843	c.2636G>A	c.(2635-2637)cGc>cAc	p.R879H	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.R898H|AP3B2_ENST00000535348.1_Missense_Mutation_p.R847H	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	879					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.R878H(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GAAAGGTTGGCGGCTGAAGGT	0.612																																																1	Substitution - Missense(1)	ovary(1)	15											36.0	43.0	41.0					15																	83331586		2048	4200	6248	81128641	SO:0001583	missense	8120			U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.2636G>A	15.37:g.83331586C>T	ENSP00000261722:p.Arg879His		81128641	A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	ENST00000261722.3	37	CCDS45331.1	SNP	27	WashU	.	.	.	.	.	.	.	.	.	.	C	35	5.449044	0.96205	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	T;T;T	0.37915	1.17;1.17;1.17	6.04	5.12	0.69794	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, gamma-adaptin, appendage (1);	0.000000	0.85682	D	0.000000	T	0.66446	0.2790	M	0.86502	2.82	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;P;P	0.85130	0.997;0.869;0.869	T	0.74456	-0.3659	10	0.87932	D	0	-19.1441	16.8305	0.85943	0.1296:0.8704:0.0:0.0	.	847;898;879	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	H	879;847;898	ENSP00000261722:R879H;ENSP00000438721:R847H;ENSP00000440984:R898H	ENSP00000261722:R879H	R	-	2	0	AP3B2	81128641	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.610000	0.82949	1.551000	0.49450	0.563000	0.77884	CGC		0.612	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			Missense_Mutation
PMPCB	9512	genome.wustl.edu	37	7	102948090	102948090	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1332-01	TCGA-04-1332-10	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-04-1332-01	TCGA-04-1332-10	g.chr7:102948090G>C	ENST00000249269.4	+	7	822	c.784G>C	c.(784-786)Gac>Cac	p.D262H	PMPCB_ENST00000428154.1_Missense_Mutation_p.D262H|PMPCB_ENST00000420236.2_Missense_Mutation_p.D157H	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	262					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.D262H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCATTTCGGTGACTCTTTATG	0.388																																																1	Substitution - Missense(1)	ovary(1)	7											118.0	105.0	109.0					7																	102948090		2203	4300	6503	102735326	SO:0001583	missense	9512			AF054182	CCDS5730.1	7q22.1	2007-07-30			ENSG00000105819	ENSG00000105819			9119	protein-coding gene	gene with protein product		603131				9653160	Standard	XM_005250717		Approved	MPPB, MPPP52	uc003vbl.3	O75439	OTTHUMG00000157205	ENST00000249269.4:c.784G>C	7.37:g.102948090G>C	ENSP00000249269:p.Asp262His		102735326	O60416|Q96FV4	Missense_Mutation	SNP	ENST00000249269.4	37	CCDS5730.1	SNP	45	WashU	.	.	.	.	.	.	.	.	.	.	G	15.52	2.856513	0.51376	.	.	ENSG00000105819	ENST00000249269;ENST00000428154;ENST00000420236	T;T;T	0.09538	2.97;2.97;2.97	5.92	4.94	0.65067	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.184813	0.56097	D	0.000030	T	0.12475	0.0303	L	0.37800	1.135	0.34643	D	0.720849	B;P;B;B;B;B;B	0.38617	0.068;0.64;0.035;0.035;0.014;0.014;0.432	B;P;B;B;B;B;B	0.51055	0.174;0.657;0.035;0.035;0.035;0.035;0.424	T	0.24012	-1.0172	10	0.16896	T	0.51	.	3.934	0.09298	0.3172:0.0:0.6828:0.0	.	157;157;262;262;253;262;262	E7ERZ4;B4DM90;A8K1E9;B3KM34;Q96CP5;O75439;G3V0E4	.;.;.;.;.;MPPB_HUMAN;.	H	262;262;157	ENSP00000249269:D262H;ENSP00000390035:D262H;ENSP00000410393:D157H	ENSP00000249269:D262H	D	+	1	0	PMPCB	102735326	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.555000	0.53727	2.809000	0.96659	0.655000	0.94253	GAC		0.388	PMPCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347913.1	NM_004279		Missense_Mutation
CENPE	1062	genome.wustl.edu	37	4	104055002	104055002	+	Silent	SNP	G	G	A			TCGA-04-1332-01	TCGA-04-1332-10	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-04-1332-01	TCGA-04-1332-10	g.chr4:104055002G>A	ENST00000265148.3	-	41	6659	c.6570C>T	c.(6568-6570)tcC>tcT	p.S2190S	CENPE_ENST00000380026.3_Silent_p.S2069S	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2190	Kinetochore-binding domain.			S -> C (in Ref. 1; CAA78727). {ECO:0000305}.	antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.S2153S(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ATTTATTGATGGATTCATGTT	0.279																																																1	Substitution - coding silent(1)	ovary(1)	4											111.0	105.0	107.0					4																	104055002		2201	4298	6499	104274451	SO:0001819	synonymous_variant	1062			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.6570C>T	4.37:g.104055002G>A			104274451	A6NKY9|A8K2U7|Q4LE75	Silent	SNP	ENST00000265148.3	37	CCDS34042.1	SNP	47	WashU																																																																																				0.279	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				Silent
AP4B1	10717	genome.wustl.edu	37	1	114442771	114442771	+	Missense_Mutation	SNP	C	C	T	rs564262237	byFrequency	TCGA-04-1332-01	TCGA-04-1332-10	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-04-1332-01	TCGA-04-1332-10	g.chr1:114442771C>T	ENST00000369569.1	-	5	1149	c.869G>A	c.(868-870)cGt>cAt	p.R290H	AP4B1_ENST00000256658.4_Missense_Mutation_p.R290H|AP4B1_ENST00000369566.3_Missense_Mutation_p.R197H|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000462591.1_5'Flank|AP4B1_ENST00000369567.1_Missense_Mutation_p.R122H	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	290					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.R290H(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGAGCTCACGGCTCTCTGA	0.448													C|||	2	0.000399361	0.0	0.0	5008	,	,		21041	0.0		0.0	False		,,,				2504	0.002															2	Substitution - Missense(2)	ovary(1)|endometrium(1)	1											75.0	82.0	80.0					1																	114442771		2203	4300	6503	114244294	SO:0001583	missense	10717			AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.869G>A	1.37:g.114442771C>T	ENSP00000358582:p.Arg290His		114244294	B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	CCDS865.1	SNP	19	WashU	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887464	0.33348	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369564;ENST00000432415	T;T;T;T;T;T	0.26067	1.76;1.76;1.76;2.63;1.76;1.76	5.09	5.09	0.68999	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.046077	0.85682	D	0.000000	T	0.26738	0.0654	L	0.31065	0.9	0.58432	D	0.999994	B;P;D;P	0.89917	0.295;0.68;1.0;0.513	B;B;D;B	0.72075	0.19;0.19;0.976;0.069	T	0.02144	-1.1206	10	0.49607	T	0.09	.	12.2549	0.54619	0.0:0.9216:0.0:0.0784	.	197;122;290;191	B7Z4X3;B1ALD0;Q9Y6B7;B4DTG3	.;.;AP4B1_HUMAN;.	H	122;290;290;197;215;122	ENSP00000358580:R122H;ENSP00000358582:R290H;ENSP00000256658:R290H;ENSP00000358579:R197H;ENSP00000358577:R215H;ENSP00000393622:R122H	ENSP00000256658:R290H	R	-	2	0	AP4B1	114244294	1.000000	0.71417	0.842000	0.33263	0.741000	0.42261	4.392000	0.59659	2.520000	0.84964	0.561000	0.74099	CGT		0.448	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		Missense_Mutation
GPRC6A	222545	genome.wustl.edu	37	6	117113364	117113364	+	Silent	SNP	T	T	G			TCGA-04-1332-01	TCGA-04-1332-10	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-04-1332-01	TCGA-04-1332-10	g.chr6:117113364T>G	ENST00000310357.3	-	6	2743	c.2722A>C	c.(2722-2724)Agg>Cgg	p.R908R	GPRC6A_ENST00000368549.3_Silent_p.R837R|GPRC6A_ENST00000530250.1_Silent_p.R733R	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	908					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R908R(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GCATTTTCCCTGCATATGTGT	0.423																																																1	Substitution - coding silent(1)	ovary(1)	6											157.0	159.0	159.0					6																	117113364		2203	4300	6503	117220057	SO:0001819	synonymous_variant	222545			AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.2722A>C	6.37:g.117113364T>G			117220057	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Silent	SNP	ENST00000310357.3	37	CCDS5112.1	SNP	55	WashU																																																																																				0.423	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			Silent
TUBB4BP6	100996306	genome.wustl.edu	37	9	121526217	121526217	+	IGR	SNP	G	G	C			TCGA-04-1332-01	TCGA-04-1332-10	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-04-1332-01	TCGA-04-1332-10	g.chr9:121526217G>C								RP11-127L21.1 (18627 upstream) : BRINP1 (389518 downstream)																							CTACCTAATGGCAGCTCCCAT	0.488																																																0			9																																								120566038	SO:0001628	intergenic_variant	442434																															9.37:g.121526217G>C			120566038		Missense_Mutation	SNP		37		SNP	42	WashU																																																																																			0	0.488									Missense_Mutation
OR10G7	390265	genome.wustl.edu	37	11	123909234	123909234	+	Missense_Mutation	SNP	T	T	C	rs201972627	byFrequency	TCGA-04-1332-01	TCGA-04-1332-10	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-04-1332-01	TCGA-04-1332-10	g.chr11:123909234T>C	ENST00000330487.5	-	1	483	c.475A>G	c.(475-477)Acc>Gcc	p.T159A		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T159A(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GTCAATATGGTCTGGACAGCA	0.577													T|||	4	0.000798722	0.0	0.0	5008	,	,		20775	0.004		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	11						T	ALA/THR	0,4400		0,0,2200	146.0	141.0	143.0		475	2.1	0.8	11		143	1,8589	1.2+/-3.3	0,1,4294	no	missense	OR10G7	NM_001004463.1	58	0,1,6494	CC,CT,TT		0.0116,0.0,0.0077	benign	159/312	123909234	1,12989	2200	4295	6495	123414444	SO:0001583	missense	390265			AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.475A>G	11.37:g.123909234T>C	ENSP00000329689:p.Thr159Ala		123414444	Q6IFE8	Missense_Mutation	SNP	ENST00000330487.5	37	CCDS31705.1	SNP	58	WashU	11	0.005036630036630037	0	0.0	3	0.008287292817679558	6	0.01048951048951049	2	0.002638522427440633	T	8.660	0.900292	0.17686	0.0	1.16E-4	ENSG00000182634	ENST00000330487	T	0.00256	8.42	3.24	2.11	0.27256	GPCR, rhodopsin-like superfamily (1);	0.139097	0.33075	N	0.005307	T	0.00144	0.0004	L	0.49126	1.545	0.30208	N	0.79798	B	0.19073	0.033	B	0.34385	0.181	T	0.03761	-1.1006	10	0.46703	T	0.11	.	7.9741	0.30145	0.0:0.1027:0.0:0.8973	.	159	Q8NGN6	O10G7_HUMAN	A	159	ENSP00000329689:T159A	ENSP00000329689:T159A	T	-	1	0	OR10G7	123414444	0.000000	0.05858	0.840000	0.33206	0.416000	0.31233	0.059000	0.14322	0.466000	0.27193	0.374000	0.22700	ACC		0.577	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		Missense_Mutation
TPK1	27010	genome.wustl.edu	37	7	144288554	144288554	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1332-01	TCGA-04-1332-10	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-04-1332-01	TCGA-04-1332-10	g.chr7:144288554T>C	ENST00000360057.3	-	7	565	c.463A>G	c.(463-465)Ata>Gta	p.I155V	TPK1_ENST00000549981.1_Missense_Mutation_p.I38V|TPK1_ENST00000378099.3_Intron|TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000538212.2_Intron	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	155					small molecule metabolic process (GO:0044281)|thiamine diphosphate biosynthetic process (GO:0009229)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|thiamine binding (GO:0030975)|thiamine diphosphokinase activity (GO:0004788)	p.I155V(1)		large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	TCTTGGATTATTATAATTGGA	0.448																																					Ovarian(45;88 1034 2073 5829 28455)											1	Substitution - Missense(1)	ovary(1)	7											133.0	133.0	133.0					7																	144288554		2203	4300	6503	143919487	SO:0001583	missense	27010			AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511			17358	protein-coding gene	gene with protein product	"""placental protein 20"", ""thiamine pyrophosphokinase 1"", ""thiamine kinase"", ""thiamine diphosphokinase"""	606370				11342111	Standard	NM_022445		Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000360057.3:c.463A>G	7.37:g.144288554T>C	ENSP00000353165:p.Ile155Val		143919487	A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	Missense_Mutation	SNP	ENST00000360057.3	37	CCDS5888.1	SNP	52	WashU	.	.	.	.	.	.	.	.	.	.	T	9.814	1.183964	0.21870	.	.	ENSG00000196511	ENST00000360057;ENST00000549981;ENST00000552881	D;D	0.82526	-1.62;-1.62	5.78	4.64	0.57946	Thiamin pyrophosphokinase, catalytic domain (2);Thiamin pyrophosphokinase, vitamin B1-binding domain (1);	0.307243	0.39146	N	0.001445	T	0.68604	0.3019	N	0.16201	0.385	0.43103	D	0.994792	B	0.11235	0.004	B	0.15484	0.013	T	0.65813	-0.6077	10	0.46703	T	0.11	-6.926	9.3118	0.37910	0.0:0.0833:0.0:0.9167	.	155	Q9H3S4	TPK1_HUMAN	V	155;38;155	ENSP00000353165:I155V;ENSP00000448655:I155V	ENSP00000353165:I155V	I	-	1	0	TPK1	143919487	1.000000	0.71417	0.892000	0.35008	0.685000	0.39939	1.235000	0.32671	2.220000	0.72140	0.533000	0.62120	ATA		0.448	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327777.1	NM_022445		Missense_Mutation
HPS3	84343	genome.wustl.edu	37	3	148877851	148877851	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1332-01	TCGA-04-1332-10	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-04-1332-01	TCGA-04-1332-10	g.chr3:148877851G>T	ENST00000296051.2	+	11	2031	c.1891G>T	c.(1891-1893)Gtt>Ttt	p.V631F	HPS3_ENST00000460120.1_Missense_Mutation_p.V466F	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	631					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)		p.V631F(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AGCAAAAGTGGTTCAGATGTT	0.393									Hermansky-Pudlak syndrome																																							1	Substitution - Missense(1)	ovary(1)	3											146.0	142.0	143.0					3																	148877851		2203	4300	6503	150360541	SO:0001583	missense	84343	Familial Cancer Database	HPS, HPS1-8	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.1891G>T	3.37:g.148877851G>T	ENSP00000296051:p.Val631Phe		150360541	A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	CCDS3140.1	SNP	44	WashU	.	.	.	.	.	.	.	.	.	.	G	14.27	2.485054	0.44147	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.66460	-0.21;-0.21	5.41	3.23	0.37069	.	0.417145	0.25823	N	0.028080	T	0.53206	0.1782	L	0.29908	0.895	0.09310	N	0.999993	P;P	0.43519	0.809;0.809	P;P	0.45971	0.499;0.499	T	0.41466	-0.9507	10	0.35671	T	0.21	-6.2554	4.2147	0.10528	0.3037:0.2482:0.4481:0.0	.	466;631	G5E9V4;Q969F9	.;HPS3_HUMAN	F	631;466	ENSP00000296051:V631F;ENSP00000418230:V466F	ENSP00000296051:V631F	V	+	1	0	HPS3	150360541	0.922000	0.31269	0.883000	0.34634	0.997000	0.91878	0.999000	0.29757	1.429000	0.47314	0.563000	0.77884	GTT		0.393	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		Missense_Mutation
LELP1	149018	genome.wustl.edu	37	1	153177462	153177462	+	Silent	SNP	C	C	T			TCGA-04-1332-01	TCGA-04-1332-10	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-04-1332-01	TCGA-04-1332-10	g.chr1:153177462C>T	ENST00000368747.1	+	2	389	c.279C>T	c.(277-279)ccC>ccT	p.P93P		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	93	Cys/Pro-rich.							p.P93P(2)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCCACCTCCCTGCCCTCCCC	0.632																																																2	Substitution - coding silent(2)	ovary(1)|endometrium(1)	1											58.0	49.0	52.0					1																	153177462		2203	4300	6503	151444086	SO:0001819	synonymous_variant	149018				CCDS30869.1	1q21.3	2008-02-05			ENSG00000203784	ENSG00000203784			32046	protein-coding gene	gene with protein product		611042					Standard	NM_001010857		Approved		uc001fbl.4	Q5T871	OTTHUMG00000013935	ENST00000368747.1:c.279C>T	1.37:g.153177462C>T			151444086	A1L4E1	Silent	SNP	ENST00000368747.1	37	CCDS30869.1	SNP	24	WashU																																																																																				0.632	LELP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039104.1	NM_001010857		Silent
IL6R	3570	genome.wustl.edu	37	1	154407116	154407116	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1332-01	TCGA-04-1332-10	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-04-1332-01	TCGA-04-1332-10	g.chr1:154407116G>A	ENST00000368485.3	+	4	1017	c.580G>A	c.(580-582)Gtc>Atc	p.V194I	IL6R_ENST00000344086.4_Missense_Mutation_p.V194I	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	194	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)	p.V194I(1)	IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	GTCCATGTGCGTCGCCAGTAG	0.532																																																1	Substitution - Missense(1)	ovary(1)	1											110.0	113.0	112.0					1																	154407116		2203	4300	6503	152673740	SO:0001583	missense	3570			X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.580G>A	1.37:g.154407116G>A	ENSP00000357470:p.Val194Ile		152673740	A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Missense_Mutation	SNP	ENST00000368485.3	37	CCDS1067.1	SNP	40	WashU	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332759	0.41297	.	.	ENSG00000160712	ENST00000368485;ENST00000344086	D;D	0.85629	-2.01;-2.01	4.83	2.89	0.33648	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.420518	0.20773	N	0.085921	T	0.72374	0.3452	L	0.36672	1.1	0.09310	N	1	P;P	0.50272	0.933;0.8	P;P	0.51453	0.573;0.67	T	0.65051	-0.6262	10	0.52906	T	0.07	-26.9414	6.4766	0.22039	0.0988:0.1838:0.7174:0.0	.	194;194	P08887-2;P08887	.;IL6RA_HUMAN	I	194	ENSP00000357470:V194I;ENSP00000340589:V194I	ENSP00000340589:V194I	V	+	1	0	IL6R	152673740	0.266000	0.24112	0.021000	0.16686	0.034000	0.12701	1.384000	0.34396	0.701000	0.31803	0.655000	0.94253	GTC		0.532	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087911.1	NM_000565		Missense_Mutation
TTN	7273	genome.wustl.edu	37	2	179437666	179437666	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1332-01	TCGA-04-1332-10	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-04-1332-01	TCGA-04-1332-10	g.chr2:179437666C>T	ENST00000591111.1	-	276	68494	c.68270G>A	c.(68269-68271)cGc>cAc	p.R22757H	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R15525H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R24398H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R15458H|TTN_ENST00000460472.2_Missense_Mutation_p.R15333H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R21830H|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22757	Fibronectin type-III 65. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)	p.R15333H(1)|p.R21828H(1)		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)			GGCATAGATGCGGATCTTATA	0.483																																																2	Substitution - Missense(2)	ovary(2)	2											83.0	85.0	84.0					2																	179437666		1974	4148	6122	179145912	SO:0001583	missense	7273			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.68270G>A	2.37:g.179437666C>T	ENSP00000465570:p.Arg22757His		179145912	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	ENST00000591111.1	37		SNP	27	WashU	.	.	.	.	.	.	.	.	.	.	C	11.23	1.576681	0.28092	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.91	5.04	0.67666	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73783	0.3631	H	0.98936	4.375	0.32327	N	0.561567	B;B;B;B	0.17268	0.021;0.021;0.021;0.021	B;B;B;B	0.15484	0.013;0.013;0.013;0.013	T	0.78974	-0.1992	9	0.87932	D	0	.	11.3974	0.49849	0.0:0.8617:0.0:0.1383	.	15333;15458;15525;22757	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	21830;15333;15525;15458;15331	ENSP00000343764:R21830H;ENSP00000434586:R15333H;ENSP00000340554:R15525H;ENSP00000352154:R15458H	ENSP00000340554:R15525H	R	-	2	0	TTN	179145912	0.999000	0.42202	1.000000	0.80357	0.936000	0.57629	3.702000	0.54800	1.520000	0.48965	0.655000	0.94253	CGC		0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		Missense_Mutation
TTN	7273	genome.wustl.edu	37	2	179477126	179477126	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1332-01	TCGA-04-1332-10	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-04-1332-01	TCGA-04-1332-10	g.chr2:179477126T>C	ENST00000591111.1	-	216	45427	c.45203A>G	c.(45202-45204)aAg>aGg	p.K15068R	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K7836R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K16709R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K7769R|TTN_ENST00000460472.2_Missense_Mutation_p.K7644R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K14141R			Q8WZ42	TITIN_HUMAN	titin	15068	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)	p.K7644R(1)|p.K14141R(1)		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)			GACTGTGCACTTGGTGTCCTT	0.493																																																2	Substitution - Missense(2)	ovary(2)	2											105.0	97.0	99.0					2																	179477126		1970	4144	6114	179185371	SO:0001583	missense	7273			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.45203A>G	2.37:g.179477126T>C	ENSP00000465570:p.Lys15068Arg		179185371	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	ENST00000591111.1	37		SNP	56	WashU	.	.	.	.	.	.	.	.	.	.	T	11.96	1.793698	0.31685	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.71	5.71	0.89125	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.60856	0.2301	N	0.25992	0.78	0.47183	D	0.999342	D;D;D;D	0.71674	0.996;0.996;0.996;0.998	D;D;D;D	0.69307	0.933;0.933;0.933;0.963	T	0.65479	-0.6158	9	0.87932	D	0	.	15.9771	0.80076	0.0:0.0:0.0:1.0	.	7644;7769;7836;15068	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	14141;7644;7836;7769;7644	ENSP00000343764:K14141R;ENSP00000434586:K7644R;ENSP00000340554:K7836R;ENSP00000352154:K7769R	ENSP00000340554:K7836R	K	-	2	0	TTN	179185371	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.978000	0.63799	2.178000	0.69098	0.460000	0.39030	AAG		0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		Missense_Mutation
MAP3K13	9175	genome.wustl.edu	37	3	185184670	185184670	+	Missense_Mutation	SNP	G	G	A	rs188669013		TCGA-04-1332-01	TCGA-04-1332-10	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-04-1332-01	TCGA-04-1332-10	g.chr3:185184670G>A	ENST00000265026.3	+	10	1896	c.1562G>A	c.(1561-1563)cGt>cAt	p.R521H	MAP3K13_ENST00000535426.1_Missense_Mutation_p.R377H|MAP3K13_ENST00000446828.1_Missense_Mutation_p.R314H|MAP3K13_ENST00000443863.1_Missense_Mutation_p.R377H|MAP3K13_ENST00000424227.1_Missense_Mutation_p.R521H	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13									p.R521H(1)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CACCCTGTTCGTCCTATCATC	0.488													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18127	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	3											150.0	120.0	130.0					3																	185184670		2203	4300	6503	186667364	SO:0001583	missense	9175			BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.1562G>A	3.37:g.185184670G>A	ENSP00000265026:p.Arg521His		186667364		Missense_Mutation	SNP	ENST00000265026.3	37	CCDS3270.1	SNP	40	WashU	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	21.4	4.138601	0.77775	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85	5.56	4.68	0.58851	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.32675	0.0837	L	0.32530	0.975	0.80722	D	1	P;D;P	0.56287	0.89;0.975;0.915	B;P;P	0.53035	0.329;0.716;0.475	T	0.06954	-1.0798	10	0.52906	T	0.07	.	16.1016	0.81175	0.0:0.0:0.865:0.135	.	377;314;521	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	H	314;521;377;377;521	ENSP00000411483:R314H;ENSP00000399910:R521H;ENSP00000409325:R377H;ENSP00000439257:R377H;ENSP00000265026:R521H	ENSP00000265026:R521H	R	+	2	0	MAP3K13	186667364	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.695000	0.98691	1.453000	0.47775	0.655000	0.94253	CGT		0.488	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		Missense_Mutation
NCL	4691	genome.wustl.edu	37	2	232320317	232320317	+	Silent	SNP	G	G	A			TCGA-04-1332-01	TCGA-04-1332-10	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	TCGA-04-1332-01	TCGA-04-1332-10	g.chr2:232320317G>A	ENST00000322723.4	-	13	2091	c.1851C>T	c.(1849-1851)ttC>ttT	p.F617F	SNORA75_ENST00000384158.1_RNA|SNORD20_ENST00000384550.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	617	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)	p.F617F(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		CCTCACTGTTGAAGTCTACAA	0.448																																																1	Substitution - coding silent(1)	ovary(1)	2											152.0	162.0	158.0					2																	232320317		2203	4300	6503	232028561	SO:0001819	synonymous_variant	4691				CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.1851C>T	2.37:g.232320317G>A			232028561	Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Silent	SNP	ENST00000322723.4	37	CCDS33397.1	SNP	45	WashU																																																																																				0.448	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381		Silent
UGT1A9	54600	genome.wustl.edu	37	2	234581345	234581345	+	Silent	SNP	G	G	A			TCGA-04-1332-01	TCGA-04-1332-10	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-04-1332-01	TCGA-04-1332-10	g.chr2:234581345G>A	ENST00000354728.4	+	1	847	c.765G>A	c.(763-765)acG>acA	p.T255T	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Silent_p.T255T			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	255					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)	p.T255T(2)		breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	TGTTGCGAACGGACTTTGTTT	0.433																																																2	Substitution - coding silent(2)	ovary(1)|lung(1)	2											237.0	228.0	231.0					2																	234581345		2203	4298	6501	234246084	SO:0001819	synonymous_variant	54600			AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"""UDP glucuronosyltransferases"""	12541	other	complex locus constituent		606434	"""UDP glycosyltransferase 1 family, polypeptide A9"""			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.765G>A	2.37:g.234581345G>A			234246084	B8K285|P36509|Q9HAX0	Silent	SNP	ENST00000354728.4	37	CCDS2505.1	SNP	39	WashU																																																																																				0.433	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027		Silent
TCHH	7062	genome.wustl.edu	37	1	152081608	152081608	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1332-01	TCGA-04-1332-10	A	A	A	T	A	A	Unknown	Valid	Somatic	PhaseIII	Capture	none	1	dbGAP	Illumina GAIIx	TCGA-04-1332-01	TCGA-04-1332-10	g.chr1:152081608A>T	ENST00000368804.1	-	2	4084	c.4085T>A	c.(4084-4086)tTc>tAc	p.F1362Y		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1362	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.F1362Y(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTTCGCGGAATTTTCTGTC	0.567																																																1	Substitution - Missense(1)	ovary(1)	1											133.0	137.0	136.0					1																	152081608		1873	4100	5973	150348232	SO:0001583	missense	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4085T>A	1.37:g.152081608A>T	ENSP00000357794:p.Phe1362Tyr		150348232	Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	CCDS41396.1	SNP	9	WashU	.	.	.	.	.	.	.	.	.	.	A	10.99	1.506750	0.26949	.	.	ENSG00000159450	ENST00000368804	T	0.07114	3.22	3.42	-0.874	0.10631	.	.	.	.	.	T	0.01421	0.0046	L	0.55481	1.735	0.09310	N	1	B	0.17852	0.024	B	0.10450	0.005	T	0.48658	-0.9016	9	0.02654	T	1	0.0228	2.2965	0.04152	0.3375:0.0:0.2625:0.3999	.	1362	Q07283	TRHY_HUMAN	Y	1362	ENSP00000357794:F1362Y	ENSP00000357794:F1362Y	F	-	2	0	TCHH	150348232	0.018000	0.18449	0.001000	0.08648	0.277000	0.26821	-0.265000	0.08644	0.052000	0.16007	0.172000	0.16884	TTC		0.567	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		Missense_Mutation
KCNT1	57582	genome.wustl.edu	37	9	138642853	138642853	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1332-01	TCGA-04-1332-10	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-04-1332-01	TCGA-04-1332-10	g.chr9:138642853G>A	ENST00000263604.3	+	4	343	c.343G>A	c.(343-345)Gtc>Atc	p.V115I	KCNT1_ENST00000491806.2_Missense_Mutation_p.V101I|KCNT1_ENST00000488444.2_Missense_Mutation_p.V115I|KCNT1_ENST00000371757.2_Missense_Mutation_p.V134I|KCNT1_ENST00000298480.5_Missense_Mutation_p.V134I|KCNT1_ENST00000486577.2_Missense_Mutation_p.V95I|KCNT1_ENST00000487664.1_Missense_Mutation_p.V86I|KCNT1_ENST00000490355.2_Missense_Mutation_p.V115I			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	115					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.V134I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CATTGTGCGCGTCCTGCTCGA	0.706																																																1	Substitution - Missense(1)	ovary(1)	9											90.0	82.0	85.0					9																	138642853		2203	4300	6503	137782674	SO:0001583	missense	57582			AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.343G>A	9.37:g.138642853G>A	ENSP00000263604:p.Val115Ile		137782674	B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37		SNP	40	WashU	.	.	.	.	.	.	.	.	.	.	.	18.56	3.651277	0.67472	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000473941;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T;T	0.55234	1.54;1.41;1.4;0.53;1.49	4.68	4.68	0.58851	.	0.000000	0.64402	D	0.000002	T	0.71626	0.3362	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.68192	0.905;0.956	T	0.76405	-0.2971	10	0.72032	D	0.01	-45.2578	16.5626	0.84570	0.0:0.0:1.0:0.0	.	134;86	B9EGP2;G5E9V0	.;.	I	86;134;134;81;95;101;115;115;115	ENSP00000417851:V86I;ENSP00000298480:V134I;ENSP00000360822:V134I;ENSP00000420764:V81I;ENSP00000263604:V115I	ENSP00000263604:V115I	V	+	1	0	KCNT1	137782674	1.000000	0.71417	0.771000	0.31576	0.006000	0.05464	9.291000	0.96070	2.149000	0.67028	0.561000	0.74099	GTC		0.706	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		Missense_Mutation
