#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_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	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_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count
OR5AN1	390195	hgsc.bcm.edu;broad.mit.edu	37	11	59132638	59132638	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr11:59132638C>A	ENST00000313940.2	+	1	754	c.707C>A	c.(706-708)tCc>tAc	p.S236Y		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						AAAGGCAGGTCCAAGGCATTC	0.423																																																0													221.0	204.0	210.0					11																	59132638		2201	4295	6496	SO:0001583	missense	390195			AB065806	CCDS31559.1	11q12.1	2012-08-09			ENSG00000176495	ENSG00000176495		"""GPCR / Class A : Olfactory receptors"""	15255	protein-coding gene	gene with protein product		615702					Standard	NM_001004729		Approved		uc010rks.2	Q8NGI8	OTTHUMG00000167337	ENST00000313940.2:c.707C>A	11.37:g.59132638C>A	ENSP00000320302:p.Ser236Tyr		B9EIS2|Q6IEV4	Missense_Mutation	SNP	ENST00000313940.2	37	CCDS31559.1	.	.	.	.	.	.	.	.	.	.	C	3.318	-0.139379	0.06669	.	.	ENSG00000176495	ENST00000313940	T	0.00158	8.65	4.51	1.5	0.22942	GPCR, rhodopsin-like superfamily (1);	0.130125	0.35772	N	0.002999	T	0.00109	0.0003	N	0.03608	-0.345	0.09310	N	0.999992	D	0.61080	0.989	D	0.67382	0.951	T	0.51188	-0.8737	10	0.12430	T	0.62	-20.5544	1.5965	0.02665	0.1575:0.3525:0.306:0.1839	.	236	Q8NGI8	O5AN1_HUMAN	Y	236	ENSP00000320302:S236Y	ENSP00000320302:S236Y	S	+	2	0	OR5AN1	58889214	0.000000	0.05858	0.982000	0.44146	0.998000	0.95712	-1.667000	0.01961	0.576000	0.29452	0.655000	0.94253	TCC		0.423	OR5AN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394231.1	NM_001004729		11	198	11	198
TRIP4	9325	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	64716294	64716294	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr15:64716294A>T	ENST00000261884.3	+	10	1483	c.1423A>T	c.(1423-1425)Aaa>Taa	p.K475*	RN7SL707P_ENST00000582206.1_RNA	NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	475					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						CACAGCTAAAAAACCCTCCCC	0.448																																																0													95.0	88.0	90.0					15																	64716294		2203	4300	6503	SO:0001587	stop_gained	9325			L40371	CCDS10194.1	15q22.1	2014-02-17			ENSG00000103671	ENSG00000103671		"""-"""	12310	protein-coding gene	gene with protein product	"""zinc finger, C2HC5-type"""	604501				7776974	Standard	NM_016213		Approved	HsT17391, ZC2HC5	uc002anm.3	Q15650	OTTHUMG00000133033	ENST00000261884.3:c.1423A>T	15.37:g.64716294A>T	ENSP00000261884:p.Lys475*		B2RAS0|Q96ED7|Q9UKH0	Nonsense_Mutation	SNP	ENST00000261884.3	37	CCDS10194.1	.	.	.	.	.	.	.	.	.	.	A	38	7.136482	0.98088	.	.	ENSG00000103671	ENST00000261884	.	.	.	5.8	5.8	0.92144	.	0.320370	0.41605	D	0.000849	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.2389	12.0649	0.53581	0.8564:0.1435:0.0:0.0	.	.	.	.	X	475	.	ENSP00000261884:K475X	K	+	1	0	TRIP4	62503347	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.807000	0.75201	2.227000	0.72691	0.460000	0.39030	AAA		0.448	TRIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256635.2	NM_016213		21	45	21	45
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000420246.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|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	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; 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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(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)	GCAGCGCTCATGGTGGGGGCA	0.642		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"""	217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(1)											47.0	47.0	47.0					17																	7578394		2203	4300	6503	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.536A>G	17.37:g.7578394T>C	ENSP00000269305:p.His179Arg		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	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	20	28	20
MYH2	4620	hgsc.bcm.edu;broad.mit.edu	37	17	10432154	10432154	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr17:10432154C>G	ENST00000245503.5	-	27	3981	c.3597G>C	c.(3595-3597)agG>agC	p.R1199S	MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1199S	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1199					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CATGCTTCTTCCTCAGGGTGG	0.552																																																0													98.0	96.0	97.0					17																	10432154		2203	4300	6503	SO:0001583	missense	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3597G>C	17.37:g.10432154C>G	ENSP00000245503:p.Arg1199Ser		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886852	0.51908	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.84223	-1.82;-1.82	5.18	1.93	0.25924	Myosin tail (1);	0.000000	0.37348	U	0.002129	D	0.93792	0.8015	H	0.96604	3.85	0.43947	D	0.996614	D	0.89917	1.0	D	0.91635	0.999	D	0.93144	0.6544	10	0.87932	D	0	.	9.1627	0.37032	0.0:0.4768:0.383:0.1401	.	1199	Q9UKX2	MYH2_HUMAN	S	1199	ENSP00000245503:R1199S;ENSP00000380367:R1199S	ENSP00000245503:R1199S	R	-	3	2	MYH2	10372879	0.042000	0.20092	1.000000	0.80357	0.943000	0.58893	-0.727000	0.04931	0.765000	0.33221	0.655000	0.94253	AGG		0.552	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		5	101	5	101
UNC45B	146862	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	33475300	33475300	+	Silent	SNP	G	G	A			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr17:33475300G>A	ENST00000268876.5	+	2	115	c.18G>A	c.(16-18)gcG>gcA	p.A6A	UNC45B_ENST00000591048.1_Silent_p.A6A|UNC45B_ENST00000433649.1_Silent_p.A6A|UNC45B_ENST00000378449.1_Silent_p.A6A|UNC45B_ENST00000394570.2_Silent_p.A6A	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	6					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				AGGTGGAAGCGGTACAGCTGA	0.612																																																0													67.0	62.0	64.0					17																	33475300		2203	4300	6503	SO:0001819	synonymous_variant	146862			AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.18G>A	17.37:g.33475300G>A			Q495Q8|Q495Q9	Silent	SNP	ENST00000268876.5	37	CCDS11292.1																																																																																				0.612	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		17	35	17	35
XAB2	56949	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	7686177	7686177	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr19:7686177C>T	ENST00000358368.4	-	13	1661	c.1624G>A	c.(1624-1626)Gag>Aag	p.E542K	XAB2_ENST00000534844.1_Missense_Mutation_p.E539K	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	542					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						ATGCCGCGCTCGTACGCCTGT	0.607								Direct reversal of damage;Nucleotide excision repair (NER)																																								0													59.0	57.0	58.0					19																	7686177		2202	4300	6502	SO:0001583	missense	56949			AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.1624G>A	19.37:g.7686177C>T	ENSP00000351137:p.Glu542Lys		Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	ENST00000358368.4	37	CCDS32892.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.912994	0.92178	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.04119	3.7;3.7	4.27	4.27	0.50696	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.27278	0.0669	H	0.95816	3.725	0.80722	D	1	D	0.69078	0.997	P	0.58130	0.833	T	0.48269	-0.9050	10	0.87932	D	0	-19.1483	15.6255	0.76851	0.0:1.0:0.0:0.0	.	542	Q9HCS7	SYF1_HUMAN	K	542;539	ENSP00000351137:E542K;ENSP00000438225:E539K	ENSP00000351137:E542K	E	-	1	0	XAB2	7592177	1.000000	0.71417	0.975000	0.42487	0.627000	0.37826	7.321000	0.79088	2.205000	0.71048	0.313000	0.20887	GAG		0.607	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		11	38	11	38
TYK2	7297	hgsc.bcm.edu;ucsc.edu	37	19	10468453	10468453	+	Missense_Mutation	SNP	C	C	T	rs145437969	byFrequency	TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr19:10468453C>T	ENST00000525621.1	-	17	2934	c.2453G>A	c.(2452-2454)cGc>cAc	p.R818H	TYK2_ENST00000264818.6_Missense_Mutation_p.R818H|TYK2_ENST00000529370.1_Missense_Mutation_p.R818H|TYK2_ENST00000524462.1_Missense_Mutation_p.R633H	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	818	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GGAGGGACTGCGGCTCTGCAG	0.627													c|||	2	0.000399361	0.0015	0.0	5008	,	,		16963	0.0		0.0	False		,,,				2504	0.0															0								C	HIS/ARG	5,4401	9.9+/-24.2	0,5,2198	24.0	23.0	24.0		2453	3.9	0.8	19	dbSNP_134	24	0,8598		0,0,4299	yes	missense	TYK2	NM_003331.4	29	0,5,6497	TT,TC,CC		0.0,0.1135,0.0384	possibly-damaging	818/1188	10468453	5,12999	2203	4299	6502	SO:0001583	missense	7297				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.2453G>A	19.37:g.10468453C>T	ENSP00000431885:p.Arg818His		Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	CCDS12236.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	5.902	0.350604	0.11182	0.001135	0.0	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529370	D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62	4.98	3.93	0.45458	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.48286	D	0.000200	T	0.74627	0.3741	L	0.49699	1.58	0.19300	N	0.999979	B;B	0.32573	0.165;0.376	B;B	0.27715	0.04;0.082	T	0.60692	-0.7213	10	0.19147	T	0.46	-20.1199	11.4301	0.50034	0.0:0.9108:0.0:0.0892	.	818;818	E9PPF2;P29597	.;TYK2_HUMAN	H	633;818;818;565;818	ENSP00000433203:R633H;ENSP00000431885:R818H;ENSP00000264818:R818H;ENSP00000432728:R818H	ENSP00000264818:R818H	R	-	2	0	TYK2	10329453	0.000000	0.05858	0.789000	0.31954	0.003000	0.03518	0.567000	0.23608	1.292000	0.44672	0.655000	0.94253	CGC		0.627	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			10	11	10	11
PIH1D1	55011	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	49954795	49954795	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr19:49954795C>A	ENST00000262265.5	-	1	272	c.37G>T	c.(37-39)Gag>Tag	p.E13*	ALDH16A1_ENST00000455361.2_5'Flank|ALDH16A1_ENST00000293350.4_5'Flank|ALDH16A1_ENST00000540132.1_5'Flank|PIH1D1_ENST00000596049.1_Nonsense_Mutation_p.E13*|ALDH16A1_ENST00000433981.2_5'Flank	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	13					box C/D snoRNP assembly (GO:0000492)|epithelial cell differentiation (GO:0030855)	pre-snoRNP complex (GO:0070761)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		GCCTCCGCCTCGCTTAGCCCC	0.607																																																0													91.0	79.0	83.0					19																	49954795		2203	4300	6503	SO:0001587	stop_gained	55011			AK000650	CCDS12765.1	19q13.33	2012-07-18	2007-01-31	2007-01-31	ENSG00000104872	ENSG00000104872			26075	protein-coding gene	gene with protein product		611480		NOP17		12477932	Standard	NM_017916		Approved	FLJ20643	uc002pns.2	Q9NWS0		ENST00000262265.5:c.37G>T	19.37:g.49954795C>A	ENSP00000262265:p.Glu13*		B4DGN7|B4E2X7|Q9BVL0	Nonsense_Mutation	SNP	ENST00000262265.5	37	CCDS12765.1	.	.	.	.	.	.	.	.	.	.	c	34	5.309442	0.95629	.	.	ENSG00000104872	ENST00000262265	.	.	.	4.72	3.68	0.42216	.	1.655490	0.02783	N	0.121187	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-10.9354	9.0033	0.36094	0.0:0.8989:0.0:0.1011	.	.	.	.	X	13	.	ENSP00000262265:E13X	E	-	1	0	PIH1D1	54646607	0.957000	0.32711	0.779000	0.31741	0.109000	0.19521	3.451000	0.52964	1.350000	0.45770	-0.265000	0.10407	GAG		0.607	PIH1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465389.2	NM_017916		16	36	16	36
CEP104	9731	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	3740070	3740070	+	Silent	SNP	G	G	A	rs189791331		TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr1:3740070G>A	ENST00000378230.3	-	19	2745	c.2421C>T	c.(2419-2421)gaC>gaT	p.D807D		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	807						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TTCCAAACCCGTCTTTTTTGT	0.493																																																0													180.0	160.0	167.0					1																	3740070		2203	4300	6503	SO:0001819	synonymous_variant	9731			AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.2421C>T	1.37:g.3740070G>A			Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Silent	SNP	ENST00000378230.3	37	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	G	0.046	-1.267072	0.01433	.	.	ENSG00000116198	ENST00000438539	.	.	.	5.68	-4.62	0.03370	.	.	.	.	.	T	0.29588	0.0738	.	.	.	0.19300	N	0.999972	.	.	.	.	.	.	T	0.37663	-0.9696	4	.	.	.	.	9.2701	0.37666	0.5851:0.1068:0.3081:0.0	.	.	.	.	M	104	.	.	T	-	2	0	CEP104	3729930	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.628000	0.05515	-0.709000	0.05008	-0.140000	0.14226	ACG		0.493	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704		33	63	33	63
PCSK9	255738	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	55523126	55523126	+	Silent	SNP	C	C	T	rs139683719		TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr1:55523126C>T	ENST00000302118.5	+	7	1409	c.1119C>T	c.(1117-1119)agC>agT	p.S373S	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Silent_p.S173S	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	373	Peptidase S8.				apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GTGCCTCCAGCGACTGCAGCA	0.617																																					Pancreas(137;1454 1827 5886 22361 42375)											0								C		0,4406		0,0,2203	71.0	59.0	63.0		1119	-0.2	1.0	1	dbSNP_134	63	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PCSK9	NM_174936.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		373/693	55523126	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	255738			AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"""hypercholesterolemia, autosomal dominant 3"""	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.1119C>T	1.37:g.55523126C>T			A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Silent	SNP	ENST00000302118.5	37	CCDS603.1																																																																																				0.617	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		7	26	7	26
AMPD2	271	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	110170831	110170831	+	Missense_Mutation	SNP	C	C	T	rs373128067		TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr1:110170831C>T	ENST00000256578.3	+	10	1729	c.1369C>T	c.(1369-1371)Cgg>Tgg	p.R457W	AMPD2_ENST00000358729.4_Missense_Mutation_p.R382W|AMPD2_ENST00000528667.1_Missense_Mutation_p.R457W|AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000342115.4_Missense_Mutation_p.R376W|AMPD2_ENST00000528454.1_Missense_Mutation_p.R339W|AMPD2_ENST00000393688.3_Missense_Mutation_p.R338W	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	457					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		ACAGACGCTGCGGGAGGTCTT	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		19990	0.001		0.0	False		,,,				2504	0.0															0								C	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	72.0	71.0	71.0		1369,1126,1012	3.1	1.0	1		71	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	AMPD2	NM_004037.6,NM_139156.2,NM_203404.1	101,101,101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	457/880,376/799,338/761	110170831	2,13004	2203	4300	6503	SO:0001583	missense	271			S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"""AMPD isoform L"""	102771	"""adenosine monophosphate deaminase 2 (isoform L)"""			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.1369C>T	1.37:g.110170831C>T	ENSP00000256578:p.Arg457Trp		B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	ENST00000256578.3	37	CCDS805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.14|18.14	3.558187|3.558187	0.65538|0.65538	0.0|0.0	2.33E-4|2.33E-4	ENSG00000116337|ENSG00000116337	ENST00000369840|ENST00000342115;ENST00000528667;ENST00000256578;ENST00000358729;ENST00000528454;ENST00000393688	.|D;D;D;D;D;D	.|0.84298	.|-1.83;-1.83;-1.83;-1.83;-1.83;-1.83	5.04|5.04	3.13|3.13	0.36017|0.36017	.|Adenosine/AMP deaminase (1);	.|0.182497	.|0.45867	.|D	.|0.000340	D|D	0.85483|0.85483	0.5707|0.5707	M|M	0.78916|0.78916	2.43|2.43	0.31269|0.31269	N|N	0.692021|0.692021	.|D;D;D;D	.|0.76494	.|0.966;0.982;0.999;0.982	.|B;P;P;P	.|0.55749	.|0.332;0.559;0.783;0.559	D|D	0.83654|0.83654	0.0157|0.0157	5|10	.|0.87932	.|D	.|0	-35.2044|-35.2044	12.6585|12.6585	0.56801|0.56801	0.4249:0.5751:0.0:0.0|0.4249:0.5751:0.0:0.0	.|.	.|382;338;457;376	.|Q01433-4;Q01433-3;Q01433;Q01433-2	.|.;.;AMPD2_HUMAN;.	V|W	427|376;457;457;382;339;338	.|ENSP00000345498:R376W;ENSP00000436541:R457W;ENSP00000256578:R457W;ENSP00000351573:R382W;ENSP00000437164:R339W;ENSP00000377292:R338W	.|ENSP00000256578:R457W	A|R	+|+	2|1	0|2	AMPD2|AMPD2	109972354|109972354	0.987000|0.987000	0.35691|0.35691	0.999000|0.999000	0.59377|0.59377	0.952000|0.952000	0.60782|0.60782	2.191000|2.191000	0.42640|0.42640	0.685000|0.685000	0.31468|0.31468	-0.314000|-0.314000	0.08810|0.08810	GCG|CGG		0.602	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1			14	20	14	20
CR2	1380	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	207648381	207648381	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr1:207648381C>T	ENST00000367058.3	+	13	2548	c.2359C>T	c.(2359-2361)Cgc>Tgc	p.R787C	CR2_ENST00000367057.3_Missense_Mutation_p.R846C|CR2_ENST00000458541.2_Missense_Mutation_p.R760C|CR2_ENST00000367059.3_Missense_Mutation_p.R787C	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	787	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.			PPVTR -> L (in Ref. 3; AAA35784). {ECO:0000305}.	B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.R846S(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TCCTGTGACTCGCTGCCCTAA	0.463																																																1	Substitution - Missense(1)	lung(1)											145.0	137.0	140.0					1																	207648381		2203	4300	6503	SO:0001583	missense	1380			M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.2359C>T	1.37:g.207648381C>T	ENSP00000356025:p.Arg787Cys		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	C	2.706	-0.269774	0.05716	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	4.7	1.78	0.24846	Complement control module (1);Sushi/SCR/CCP (1);	.	.	.	.	T	0.64494	0.2603	L	0.38733	1.17	0.09310	N	1	D;D;D	0.69078	0.966;0.995;0.997	B;B;P	0.46049	0.306;0.288;0.502	T	0.53099	-0.8486	9	0.37606	T	0.19	.	6.753	0.23497	0.1467:0.6791:0.0:0.1742	.	787;787;846	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	C	787;846;787;760	ENSP00000356025:R787C;ENSP00000356024:R846C;ENSP00000356026:R787C;ENSP00000404222:R760C	ENSP00000356024:R846C	R	+	1	0	CR2	205715004	0.009000	0.17119	0.014000	0.15608	0.001000	0.01503	0.457000	0.21875	0.032000	0.15435	-1.966000	0.00469	CGC		0.463	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		29	82	29	82
CSRP2BP	57325	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	18139760	18139760	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr20:18139760C>T	ENST00000435364.3	+	4	874	c.533C>T	c.(532-534)gCa>gTa	p.A178V	CSRP2BP_ENST00000489634.2_Missense_Mutation_p.A50V|CSRP2BP_ENST00000377681.3_Missense_Mutation_p.A178V	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	178					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						AGCACCGTGGCAGGTTGCCTC	0.468																																																0													72.0	70.0	71.0					20																	18139760		2203	4300	6503	SO:0001583	missense	57325			AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.533C>T	20.37:g.18139760C>T	ENSP00000392318:p.Ala178Val		A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	ENST00000435364.3	37	CCDS13133.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.750037	0.89753	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364;ENST00000489634	T;T;T;T	0.18502	2.37;2.38;2.37;2.21	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.38772	0.1053	L	0.52573	1.65	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.77557	0.99;0.978	T	0.01045	-1.1470	10	0.40728	T	0.16	-15.2157	20.0149	0.97475	0.0:1.0:0.0:0.0	.	50;178	Q9H8E8-2;Q9H8E8	.;CSR2B_HUMAN	V	178;178;178;50	ENSP00000278816:A178V;ENSP00000366909:A178V;ENSP00000392318:A178V;ENSP00000425909:A50V	ENSP00000278816:A178V	A	+	2	0	CSRP2BP	18087760	1.000000	0.71417	0.279000	0.24732	0.557000	0.35523	7.347000	0.79356	2.793000	0.96121	0.650000	0.86243	GCA		0.468	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536		18	35	18	35
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)											79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			17	72	17	72
NFKBIZ	64332	hgsc.bcm.edu;broad.mit.edu	37	3	101576203	101576203	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr3:101576203C>A	ENST00000326172.5	+	11	2118	c.2003C>A	c.(2002-2004)gCt>gAt	p.A668D	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.A546D|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.A568D	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	668	Interaction with NFKB1/p50. {ECO:0000250}.				inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CAATTAGATGCTGTCCGCCTG	0.502																																																0													97.0	85.0	89.0					3																	101576203		2203	4300	6503	SO:0001583	missense	64332			AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"""Ankyrin repeat domain containing"""	29805	protein-coding gene	gene with protein product	"""IL-1 inducible nuclear ankyrin-repeat protein"""	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.2003C>A	3.37:g.101576203C>A	ENSP00000325663:p.Ala668Asp		B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	ENST00000326172.5	37	CCDS2946.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.162775|4.162775	0.78226|0.78226	.|.	.|.	ENSG00000144802|ENSG00000144802	ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172|ENST00000477601	T;T;T;T|.	0.66280|.	-0.16;-0.16;-0.2;-0.2|.	5.98|5.98	5.98|5.98	0.97165|0.97165	Ankyrin repeat-containing domain (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84732|0.84732	0.5537|0.5537	M|M	0.87456|0.87456	2.885|2.885	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.995|.	D|D	0.85139|0.85139	0.0979|0.0979	10|5	0.72032|.	D|.	0.01|.	-12.0083|-12.0083	20.452|20.452	0.99131|0.99131	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	546;668|.	Q9BYH8-3;Q9BYH8|.	.;IKBZ_HUMAN|.	D|M	568;568;546;668|80	ENSP00000419800:A568D;ENSP00000377618:A568D;ENSP00000325593:A546D;ENSP00000325663:A668D|.	ENSP00000325593:A546D|.	A|L	+|+	2|1	0|2	NFKBIZ|NFKBIZ	103058893|103058893	1.000000|1.000000	0.71417|0.71417	0.907000|0.907000	0.35723|0.35723	0.325000|0.325000	0.28411|0.28411	7.445000|7.445000	0.80570|0.80570	2.838000|2.838000	0.97847|0.97847	0.591000|0.591000	0.81541|0.81541	GCT|CTG		0.502	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	NM_031419		5	64	5	64
ACSL1	2180	hgsc.bcm.edu;broad.mit.edu	37	4	185679015	185679015	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr4:185679015C>G	ENST00000515030.1	-	19	2167	c.1842G>C	c.(1840-1842)aaG>aaC	p.K614N	ACSL1_ENST00000281455.2_Missense_Mutation_p.K614N|ACSL1_ENST00000513317.1_Missense_Mutation_p.K614N|ACSL1_ENST00000437665.3_Missense_Mutation_p.K443N|ACSL1_ENST00000504342.1_Missense_Mutation_p.K614N|ACSL1_ENST00000507295.1_Missense_Mutation_p.K580N|ACSL1_ENST00000454703.2_Missense_Mutation_p.K443N			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	614					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CAAATCCTCTCTTTTGGGCCC	0.408																																																0													180.0	175.0	177.0					4																	185679015		2203	4300	6503	SO:0001583	missense	2180			BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.1842G>C	4.37:g.185679015C>G	ENSP00000422607:p.Lys614Asn		B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Missense_Mutation	SNP	ENST00000515030.1	37	CCDS3839.1	.	.	.	.	.	.	.	.	.	.	C	7.932	0.740977	0.15642	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000503407;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317	T;T;T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27	5.69	4.86	0.63082	.	0.137036	0.64402	D	0.000003	T	0.15003	0.0362	L	0.45698	1.435	0.58432	D	0.999995	B;B;B;B	0.16166	0.011;0.005;0.009;0.016	B;B;B;B	0.17979	0.006;0.009;0.009;0.02	T	0.05818	-1.0862	10	0.45353	T	0.12	-12.0217	6.9069	0.24313	0.0:0.7096:0.0:0.2904	.	580;614;614;604	E7EPM6;B7Z452;P33121;P33121-2	.;.;ACSL1_HUMAN;.	N	443;614;210;614;580;443;614;614	ENSP00000407165:K443N;ENSP00000422607:K614N;ENSP00000425098:K210N;ENSP00000281455:K614N;ENSP00000426244:K580N;ENSP00000405687:K443N;ENSP00000425006:K614N;ENSP00000426150:K614N	ENSP00000281455:K614N	K	-	3	2	ACSL1	185916009	0.996000	0.38824	0.871000	0.34182	0.162000	0.22319	0.719000	0.25881	1.418000	0.47098	0.655000	0.94253	AAG		0.408	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995		8	141	8	141
OR2B6	26212	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	27925799	27925799	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr6:27925799C>T	ENST00000244623.1	+	1	781	c.781C>T	c.(781-783)Caa>Taa	p.Q261*		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGTGTACCTGCAACCACCTTC	0.448																																																0													146.0	139.0	141.0					6																	27925799		2203	4300	6503	SO:0001587	stop_gained	26212			U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657		"""GPCR / Class A : Olfactory receptors"""	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5		9500546	Standard	NM_012367		Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.781C>T	6.37:g.27925799C>T	ENSP00000244623:p.Gln261*		O43883|Q6IF89|Q9H5B0	Nonsense_Mutation	SNP	ENST00000244623.1	37	CCDS4642.1	.	.	.	.	.	.	.	.	.	.	c	8.260	0.811046	0.16537	.	.	ENSG00000124657	ENST00000244623	.	.	.	3.82	3.82	0.43975	.	0.267649	0.18833	U	0.129910	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	9.4117	0.38496	0.2132:0.7868:0.0:0.0	.	.	.	.	X	261	.	ENSP00000244623:Q261X	Q	+	1	0	OR2B6	28033778	0.006000	0.16342	0.085000	0.20634	0.110000	0.19582	2.148000	0.42235	2.044000	0.60594	0.591000	0.81541	CAA		0.448	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040165.1			24	135	24	135
HSPA1L	3305	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	31778479	31778479	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr6:31778479G>T	ENST00000375654.4	-	2	1460	c.1271C>A	c.(1270-1272)aCc>aAc	p.T424N	HSPA1L_ENST00000417199.3_Missense_Mutation_p.T424N	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	424				T -> P (in Ref. 1; AAA63228). {ECO:0000305}.	binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TGTCTGCTTGGTGGGGATGGT	0.602																																																0													112.0	110.0	111.0					6																	31778479		2203	4300	6503	SO:0001583	missense	3305			D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.1271C>A	6.37:g.31778479G>T	ENSP00000364805:p.Thr424Asn		A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.021842	0.35701	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653	T;T	0.04917	3.53;3.53	5.2	5.2	0.72013	.	0.000000	0.35772	N	0.002993	T	0.25494	0.0620	H	0.95470	3.675	0.53005	D	0.999963	D	0.76494	0.999	D	0.91635	0.999	T	0.12091	-1.0561	10	0.87932	D	0	-19.2255	9.6113	0.39665	0.0923:0.0:0.9077:0.0	.	424	P34931	HS71L_HUMAN	N	424;424;369	ENSP00000364805:T424N;ENSP00000387691:T424N	ENSP00000364804:T369N	T	-	2	0	HSPA1L	31886458	1.000000	0.71417	1.000000	0.80357	0.027000	0.11550	7.859000	0.86982	2.704000	0.92352	0.585000	0.79938	ACC		0.602	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			17	123	17	123
LGSN	51557	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	63990534	63990534	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr6:63990534A>G	ENST00000370657.4	-	4	955	c.922T>C	c.(922-924)Ttt>Ctt	p.F308L	LGSN_ENST00000370658.5_Intron			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	308					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GAATCACAAAATCCAGTCTCA	0.428																																																0													72.0	72.0	72.0					6																	63990534		2203	4300	6503	SO:0001583	missense	51557			AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.922T>C	6.37:g.63990534A>G	ENSP00000359691:p.Phe308Leu		A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	A	0.030	-1.338411	0.01287	.	.	ENSG00000146166	ENST00000370657	D	0.84873	-1.91	5.5	1.78	0.24846	Glutamine synthetase, catalytic domain (1);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.293960	0.41938	N	0.000781	T	0.59459	0.2195	L	0.36672	1.1	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.56721	-0.7932	10	0.72032	D	0.01	-2.293	1.7712	0.03012	0.5776:0.1406:0.147:0.1348	.	308	Q5TDP6	LGSN_HUMAN	L	308	ENSP00000359691:F308L	ENSP00000359691:F308L	F	-	1	0	LGSN	64048493	0.867000	0.29959	0.884000	0.34674	0.003000	0.03518	1.667000	0.37471	0.067000	0.16545	-0.250000	0.11733	TTT		0.428	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		10	58	10	58
IL22RA1	58985	broad.mit.edu;ucsc.edu	37	1	24447958	24447958	+	Silent	SNP	G	G	A			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr1:24447958G>A	ENST00000270800.1	-	7	1100	c.1062C>T	c.(1060-1062)aaC>aaT	p.N354N		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	354					cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)	integral component of membrane (GO:0016021)	interferon receptor activity (GO:0004904)			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		CAGGGGCAGCGTTTGGGGCAT	0.607																																																0													99.0	105.0	103.0					1																	24447958		2203	4300	6503	SO:0001819	synonymous_variant	58985			AF286095	CCDS247.1	1p36.11	2009-10-06	2002-12-02	2002-12-06	ENSG00000142677	ENSG00000142677		"""Interleukins and interleukin receptors"""	13700	protein-coding gene	gene with protein product		605457	"""interleukin 22 receptor"""	IL22R		10875937	Standard	NM_021258		Approved	CRF2-9	uc001biq.2	Q8N6P7	OTTHUMG00000003041	ENST00000270800.1:c.1062C>T	1.37:g.24447958G>A			A8K839|B2R9Y9|Q9HB22	Silent	SNP	ENST00000270800.1	37	CCDS247.1																																																																																				0.607	IL22RA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008412.1			49	70	49	70
