#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ZFP69	339559	broad.mit.edu	37	1	40960881	40960881	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr1:40960881A>C	ENST00000372706.1	+	6	1737	c.731A>C	c.(730-732)aAa>aCa	p.K244T	RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Missense_Mutation_p.K244T			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	244					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AGGCACCATAAATATGATACA	0.318																																						ENST00000372706.1																			0											c.(730-732)aAa>aCa		ZFP69 zinc finger protein							55.0	56.0	55.0					1																	40960881		2203	4299	6502	SO:0001583	missense	339559							g.chr1:40960881A>C	AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	24708	protein-coding gene	gene with protein product	"""ZFP69 zinc finger protein A"""		"""zinc finger protein 642"""	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.731A>C	1.37:g.40960881A>C	ENSP00000361791:p.Lys244Thr					RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Missense_Mutation_p.K244T	p.K244T							6	1737	+								Q5SWM5|Q6ZWK8	Missense_Mutation	SNP	ENST00000372706.1	37	c.731A>C	CCDS30686.1	.	.	.	.	.	.	.	.	.	.	A	7.634	0.679422	0.14907	.	.	ENSG00000187815	ENST00000372706;ENST00000372705	T;T	0.16324	2.35;2.35	4.44	4.44	0.53790	.	0.157867	0.30118	N	0.010377	T	0.09642	0.0237	N	0.10782	0.045	0.09310	N	1	B	0.19073	0.033	B	0.17098	0.017	T	0.23226	-1.0194	10	0.30078	T	0.28	-14.4261	12.3151	0.54951	1.0:0.0:0.0:0.0	.	244	Q49AA0	ZN642_HUMAN	T	244	ENSP00000361791:K244T;ENSP00000361790:K244T	ENSP00000361790:K244T	K	+	2	0	ZNF642	40733468	0.000000	0.05858	0.404000	0.26397	0.828000	0.46876	0.926000	0.28804	2.225000	0.72522	0.460000	0.39030	AAA		0.318	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	NM_198494		3	20	0	0	0	1	0	3	20				
ADRA2C	152	broad.mit.edu	37	4	3769634	3769634	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr4:3769634C>G	ENST00000330055.5	+	1	1510	c.1301C>G	c.(1300-1302)cCg>cGg	p.P434R	ADRA2C_ENST00000509482.1_Intron	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	434					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TCGCTCAACCCGGTCATCTAC	0.597																																					Esophageal Squamous(12;454 628 4517 14479)	ENST00000330055.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						c.(1300-1302)cCg>cGg		adrenoceptor alpha 2C	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						28.0	33.0	32.0					4																	3769634		2189	4295	6484	SO:0001583	missense	152				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity	g.chr4:3769634C>G	AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"""GPCR / Class A : Adrenoceptors : alpha"""	283	protein-coding gene	gene with protein product		104250	"""adrenergic, alpha-2C-, receptor"""	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.1301C>G	4.37:g.3769634C>G	ENSP00000386069:p.Pro434Arg					ADRA2C_ENST00000509482.1_Intron	p.P434R	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	1510	+			434					P35369|Q9HB49	Missense_Mutation	SNP	ENST00000330055.5	37	c.1301C>G	CCDS47004.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.992258	0.74703	.	.	ENSG00000184160	ENST00000330055	D	0.98807	-5.15	3.79	3.79	0.43588	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	D	0.99545	0.9837	H	0.99391	4.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97445	1.0024	9	0.87932	D	0	.	14.8908	0.70606	0.0:1.0:0.0:0.0	.	434	P18825	ADA2C_HUMAN	R	434	ENSP00000386069:P434R	ENSP00000386069:P434R	P	+	2	0	ADRA2C	3739432	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.853000	0.75435	1.938000	0.56188	0.650000	0.86243	CCG		0.597	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357607.1	NM_000683		3	43	0	0	0	1	0	3	43				
PTGDR2	11251	broad.mit.edu	37	11	60620871	60620871	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr11:60620871A>G	ENST00000332539.4	-	2	436	c.325T>C	c.(325-327)Tcc>Ccc	p.S109P	RP11-804A23.4_ENST00000538705.1_RNA	NM_004778.2	NP_004769.2	Q9Y5Y4	PD2R2_HUMAN	prostaglandin D2 receptor 2	109					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|calcium-mediated signaling (GO:0019722)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|prostaglandin D receptor activity (GO:0004956)|prostaglandin F receptor activity (GO:0004958)|prostaglandin J receptor activity (GO:0001785)									Indomethacin(DB00328)|Sulindac(DB00605)	AAGAAGATGGAGGAGTGCAGT	0.627																																						ENST00000332539.4																			0											c.(325-327)Tcc>Ccc		prostaglandin D2 receptor 2							29.0	25.0	27.0					11																	60620871		2196	4295	6491	SO:0001583	missense	11251				immune response	integral to plasma membrane	N-formyl peptide receptor activity	g.chr11:60620871A>G	AF118265	CCDS7994.1	11q12-q13.3	2012-08-08	2011-11-11	2011-11-11		ENSG00000183134		"""CD molecules"", ""GPCR / Class A : Prostanoid receptors"""	4502	protein-coding gene	gene with protein product	"""chemoattractant receptor homologous molecule expressed on T helper type 2 cells"""	604837	"""G protein-coupled receptor 44"""	GPR44		10036181	Standard	NM_004778		Approved	CRTH2, CD294, DP2	uc001nqc.2	Q9Y5Y4		ENST00000332539.4:c.325T>C	11.37:g.60620871A>G	ENSP00000332812:p.Ser109Pro						p.S109P	NM_004778.2	NP_004769.2	Q9Y5Y4	GPR44_HUMAN			2	436	-			109					O94765|Q4QRI6	Missense_Mutation	SNP	ENST00000332539.4	37	c.325T>C	CCDS7994.1	.	.	.	.	.	.	.	.	.	.	A	19.65	3.867781	0.72065	.	.	ENSG00000183134	ENST00000332539	T	0.38722	1.12	5.2	5.2	0.72013	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67144	0.2862	M	0.87617	2.895	0.46028	D	0.99882	D	0.89917	1.0	D	0.91635	0.999	T	0.70008	-0.4990	10	0.37606	T	0.19	.	13.0024	0.58683	1.0:0.0:0.0:0.0	.	109	Q9Y5Y4	GPR44_HUMAN	P	109	ENSP00000332812:S109P	ENSP00000332812:S109P	S	-	1	0	GPR44	60377447	0.873000	0.30073	0.997000	0.53966	0.892000	0.51952	1.396000	0.34531	1.973000	0.57446	0.459000	0.35465	TCC		0.627	PTGDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396328.1	NM_004778		2	11	0	0	0	1	0	2	11				
TRPV2	51393	broad.mit.edu	37	17	16335412	16335412	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr17:16335412C>A	ENST00000338560.7	+	12	2186	c.1787C>A	c.(1786-1788)gCc>gAc	p.A596D	TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_Missense_Mutation_p.A166D	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	596					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ATCCTGGAAGCCTCCTTGGAG	0.632																																						ENST00000338560.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(1786-1788)gCc>gAc		transient receptor potential cation channel, subfamily V, member 2							80.0	80.0	80.0					17																	16335412		2203	4300	6503	SO:0001583	missense	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16335412C>A	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.1787C>A	17.37:g.16335412C>A	ENSP00000342222:p.Ala596Asp					TRPV2_ENST00000577397.1_Missense_Mutation_p.A166D|TRPV2_ENST00000583241.1_3'UTR	p.A596D	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	12	2186	+			596					A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	ENST00000338560.7	37	c.1787C>A	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.599944	0.28534	.	.	ENSG00000187688	ENST00000338560	D	0.99143	-5.48	4.81	4.81	0.61882	Ion transport (1);	0.163418	0.56097	D	0.000031	D	0.98868	0.9617	M	0.73962	2.25	0.45914	D	0.99875	D	0.53151	0.958	P	0.60473	0.875	D	0.99035	1.0822	10	0.87932	D	0	-44.8674	10.5267	0.44952	0.0:0.8992:0.0:0.1008	.	596	Q9Y5S1	TRPV2_HUMAN	D	596	ENSP00000342222:A596D	ENSP00000342222:A596D	A	+	2	0	TRPV2	16276137	0.965000	0.33210	0.977000	0.42913	0.497000	0.33675	3.734000	0.55037	2.245000	0.73994	0.449000	0.29647	GCC		0.632	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		7	123	1	0	0.0293803	1	0.0327704	7	123				
ATF6B	1388	broad.mit.edu	37	6	32083517	32083517	+	Silent	SNP	C	C	T			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr6:32083517C>T	ENST00000375203.3	-	18	2143	c.2111G>A	c.(2110-2112)tGa>tAa	p.*704*	ATF6B_ENST00000375201.4_Silent_p.*701*	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	0					response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TGGCAGAGGTCAGGGATGATT	0.617																																						ENST00000375201.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						c.(2101-2103)tGa>tAa		activating transcription factor 6 beta							65.0	73.0	70.0					6																	32083517		2203	4300	6503	SO:0001819	synonymous_variant	1388				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:32083517C>T		CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"""basic leucine zipper proteins"""	2349	protein-coding gene	gene with protein product		600984	"""cAMP responsive element binding protein-like 1"""	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.2111G>A	6.37:g.32083517C>T						ATF6B_ENST00000375203.3_Silent_p.*704*	p.*701*			Q99941	ATF6B_HUMAN			18	2147	-			0					B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Silent	SNP	ENST00000375203.3	37	c.2102G>A	CCDS4737.1																																																																																				0.617	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2			5	161	0	0	0	1	0	5	161				
ENTPD7	57089	broad.mit.edu	37	10	101464346	101464346	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr10:101464346G>A	ENST00000370489.4	+	13	1899	c.1721G>A	c.(1720-1722)cGa>cAa	p.R574Q	CUTC_ENST00000493385.1_Intron	NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	574						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		CGGCTACGCCGAATTCACCAC	0.547																																						ENST00000370489.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18						c.(1720-1722)cGa>cAa		ectonucleoside triphosphate diphosphohydrolase 7							114.0	93.0	101.0					10																	101464346		2203	4300	6503	SO:0001583	missense	57089					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity	g.chr10:101464346G>A	AF269255	CCDS7480.1	10q23-q24	2004-07-01			ENSG00000198018	ENSG00000198018			19745	protein-coding gene	gene with protein product						11278936	Standard	NM_020354		Approved	LALP1, FLJ30978	uc001kqa.4	Q9NQZ7	OTTHUMG00000018888	ENST00000370489.4:c.1721G>A	10.37:g.101464346G>A	ENSP00000359520:p.Arg574Gln					CUTC_ENST00000493385.1_Intron	p.R574Q	NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)	13	1899	+		Colorectal(252;0.234)	574					B2RB83|B3KP21|D3DR64	Missense_Mutation	SNP	ENST00000370489.4	37	c.1721G>A	CCDS7480.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.502855	0.85176	.	.	ENSG00000198018	ENST00000370489	T	0.15834	2.39	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.41143	0.1146	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	T	0.23797	-1.0178	10	0.66056	D	0.02	-9.2121	18.4762	0.90793	0.0:0.0:1.0:0.0	.	574	Q9NQZ7	ENTP7_HUMAN	Q	574	ENSP00000359520:R574Q	ENSP00000359520:R574Q	R	+	2	0	ENTPD7	101454336	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	7.765000	0.85310	2.619000	0.88677	0.561000	0.74099	CGA		0.547	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049809.2	NM_020354		5	44	0	0	0	1	0	5	44				
TMEM255B	348013	broad.mit.edu	37	13	114514803	114514803	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr13:114514803C>T	ENST00000375353.3	+	9	935	c.908C>T	c.(907-909)cCc>cTc	p.P303L	TMEM255B_ENST00000467169.1_3'UTR	NM_182614.2	NP_872420.1	Q8WV15	T255B_HUMAN	transmembrane protein 255B	303	Pro-rich.					integral component of membrane (GO:0016021)											TCTGGGCTTCCCGGCCAGGCT	0.642																																						ENST00000375353.3																			0											c.(907-909)cCc>cTc		transmembrane protein 255B							58.0	70.0	66.0					13																	114514803		2203	4300	6503	SO:0001583	missense	348013							g.chr13:114514803C>T	BC018995	CCDS45071.1	13q34	2012-11-30	2012-11-30	2012-11-30	ENSG00000184497	ENSG00000184497			28297	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member B"""	FAM70B		12477932	Standard	NM_182614		Approved	MGC20579	uc001vuh.3	Q8WV15	OTTHUMG00000017398	ENST00000375353.3:c.908C>T	13.37:g.114514803C>T	ENSP00000364502:p.Pro303Leu					TMEM255B_ENST00000467169.1_3'UTR	p.P303L	NM_182614.2	NP_872420.1					9	935	+									Missense_Mutation	SNP	ENST00000375353.3	37	c.908C>T	CCDS45071.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.958626	0.34565	.	.	ENSG00000184497	ENST00000375353	T	0.49139	0.79	4.72	2.82	0.32997	.	.	.	.	.	T	0.47637	0.1456	L	0.58101	1.795	0.09310	N	1	P	0.41848	0.763	B	0.42422	0.387	T	0.35847	-0.9772	9	0.51188	T	0.08	-4.932	11.8754	0.52544	0.3156:0.6844:0.0:0.0	.	303	Q8WV15	FA70B_HUMAN	L	303	ENSP00000364502:P303L	ENSP00000364502:P303L	P	+	2	0	FAM70B	113599140	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.665000	0.25083	0.944000	0.37579	0.591000	0.81541	CCC		0.642	TMEM255B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045953.4	NM_182614		3	129	0	0	0	1	0	3	129				
DLC1	10395	broad.mit.edu	37	8	12957624	12957624	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr8:12957624C>G	ENST00000276297.4	-	9	2631	c.2222G>C	c.(2221-2223)aGc>aCc	p.S741T	DLC1_ENST00000512044.2_Missense_Mutation_p.S338T|DLC1_ENST00000520226.1_Missense_Mutation_p.S230T|DLC1_ENST00000358919.2_Missense_Mutation_p.S304T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	741	Focal adhesion-targeting (FAT).|Poly-Ser.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTGCTGCTGCTGGTCTGCGT	0.627																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2221-2223)aGc>aCc		deleted in liver cancer 1							56.0	47.0	50.0					8																	12957624		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957624C>G	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2222G>C	8.37:g.12957624C>G	ENSP00000276297:p.Ser741Thr					DLC1_ENST00000512044.2_Missense_Mutation_p.S338T|DLC1_ENST00000358919.2_Missense_Mutation_p.S304T|DLC1_ENST00000520226.1_Missense_Mutation_p.S230T	p.S741T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2631	-			741			Poly-Ser.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.2222G>C	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320479	0.81469	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.07688	3.42;3.19;3.19;3.17	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.31979	0.0814	M	0.80422	2.495	0.80722	D	1	D;B;D	0.65815	0.995;0.103;0.99	P;B;D	0.72982	0.795;0.132;0.979	T	0.09975	-1.0650	10	0.66056	D	0.02	.	17.9274	0.88987	0.0:1.0:0.0:0.0	.	741;338;304	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	T	741;304;338;230	ENSP00000276297:S741T;ENSP00000351797:S304T;ENSP00000422595:S338T;ENSP00000428028:S230T	ENSP00000276297:S741T	S	-	2	0	DLC1	13001995	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.462000	0.80851	2.527000	0.85204	0.561000	0.74099	AGC		0.627	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		4	87	0	0	0	1	0	4	87				
TIMM17A	10440	broad.mit.edu	37	1	201926447	201926447	+	Missense_Mutation	SNP	C	C	T	rs377250405		TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr1:201926447C>T	ENST00000367287.4	+	2	101	c.65C>T	c.(64-66)aCg>aTg	p.T22M		NM_006335.2	NP_006326.1	Q99595	TI17A_HUMAN	translocase of inner mitochondrial membrane 17 homolog A (yeast)	22					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane presequence translocase complex (GO:0005744)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			kidney(1)|lung(3)|stomach(1)	5						GGGGCCTTTACGATGGGTACC	0.418																																						ENST00000367287.4																			0				kidney(1)|lung(3)|stomach(1)	5						c.(64-66)aCg>aTg		translocase of inner mitochondrial membrane 17 homolog A (yeast)		C	MET/THR	0,4406		0,0,2203	201.0	187.0	192.0		65	5.0	0.9	1		192	1,8599	1.2+/-3.3	0,1,4299	no	missense	TIMM17A	NM_006335.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	22/172	201926447	1,13005	2203	4300	6503	SO:0001583	missense	10440				protein targeting to mitochondrion	integral to membrane|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr1:201926447C>T	AF106622	CCDS1417.1	1q32.1	2008-05-23			ENSG00000134375	ENSG00000134375			17315	protein-coding gene	gene with protein product		605057				8893850, 10339406	Standard	NM_006335		Approved	TIM17, TIM17A	uc001gxc.3	Q99595	OTTHUMG00000035806	ENST00000367287.4:c.65C>T	1.37:g.201926447C>T	ENSP00000356256:p.Thr22Met						p.T22M	NM_006335.2	NP_006326.1	Q99595	TI17A_HUMAN			2	101	+			22					B2RDM5|Q9BWF5	Missense_Mutation	SNP	ENST00000367287.4	37	c.65C>T	CCDS1417.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155027	0.78114	0.0	1.16E-4	ENSG00000134375	ENST00000367287	T	0.28666	1.6	5.95	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.41604	0.1166	L	0.31526	0.94	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.21008	-1.0258	10	0.39692	T	0.17	-0.3424	13.0032	0.58687	0.0:0.9222:0.0:0.0778	.	22	Q99595	TI17A_HUMAN	M	22	ENSP00000356256:T22M	ENSP00000356256:T22M	T	+	2	0	TIMM17A	200193070	1.000000	0.71417	0.909000	0.35828	0.982000	0.71751	7.533000	0.81994	1.524000	0.49035	0.655000	0.94253	ACG		0.418	TIMM17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087092.1	NM_006335		3	33	0	0	0	1	0	3	33				
SMARCA5	8467	broad.mit.edu	37	4	144469277	144469277	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr4:144469277A>G	ENST00000283131.3	+	22	3431	c.2969A>G	c.(2968-2970)aAg>aGg	p.K990R		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	990	SANT 2. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					TGGTTTCTTAAGTCCAGAACT	0.373																																						ENST00000283131.3																		EWSR1/SMARCA5(2)	0				endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(2968-2970)aAg>aGg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5							77.0	73.0	74.0					4																	144469277		2203	4300	6503	SO:0001583	missense	8467				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	g.chr4:144469277A>G	AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.2969A>G	4.37:g.144469277A>G	ENSP00000283131:p.Lys990Arg						p.K990R	NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN			22	3431	+	all_hematologic(180;0.158)		990			SANT 2.			Missense_Mutation	SNP	ENST00000283131.3	37	c.2969A>G	CCDS3761.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.118453	0.77323	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	D	0.92099	-2.97	5.93	5.93	0.95920	SANT domain, DNA binding (1);SLIDE (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.89897	0.6848	L	0.42008	1.315	0.58432	D	0.999998	B	0.23442	0.085	B	0.32090	0.14	D	0.86125	0.1571	10	0.26408	T	0.33	0.0047	16.3766	0.83401	1.0:0.0:0.0:0.0	.	990	O60264	SMCA5_HUMAN	R	990;933;933	ENSP00000283131:K990R	ENSP00000283131:K990R	K	+	2	0	SMARCA5	144688727	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.330000	0.96422	2.263000	0.75096	0.533000	0.62120	AAG		0.373	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			2	15	0	0	0	1	0	2	15				
ANKRD20A11P	391267	broad.mit.edu	37	21	15352025	15352025	+	RNA	SNP	G	G	T			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr21:15352025G>T	ENST00000344693.5	-	0	733					NR_027270.1				ankyrin repeat domain 20 family, member A11, pseudogene																		CCCGCTACCTGTGCTGCTTGT	0.711																																						ENST00000344693.5																			0																																																			0							g.chr21:15352025G>T			21q11.2	2011-11-23			ENSG00000215559	ENSG00000215559			42024	pseudogene	pseudogene			"""chromosome 21 open reading frame 81"""	C21orf81			Standard	NR_027270		Approved		uc002yjj.4		OTTHUMG00000074237		21.37:g.15352025G>T								NR_027270.1						0	733	-									RNA	SNP	ENST00000344693.5	37																																																																																						0.711	ANKRD20A11P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157750.1			5	57	1	0	5.18039e-06	1	6.5318e-06	5	57				
FLG2	388698	broad.mit.edu	37	1	152328035	152328035	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr1:152328035A>C	ENST00000388718.5	-	3	2299	c.2227T>G	c.(2227-2229)Tct>Gct	p.S743A	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	743	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAAAGCCAGAGGACTGACCT	0.507																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(2227-2229)Tct>Gct		filaggrin family member 2							292.0	285.0	288.0					1																	152328035		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152328035A>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2227T>G	1.37:g.152328035A>C	ENSP00000373370:p.Ser743Ala					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.S743A	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2299	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		743			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.2227T>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	A	9.348	1.064785	0.20067	.	.	ENSG00000143520	ENST00000388718	T	0.22134	1.97	4.64	4.64	0.57946	.	.	.	.	.	T	0.20251	0.0487	M	0.69185	2.1	0.26074	N	0.981184	D	0.61080	0.989	P	0.57679	0.825	T	0.08932	-1.0698	9	0.14252	T	0.57	-0.8615	12.053	0.53518	1.0:0.0:0.0:0.0	.	743	Q5D862	FILA2_HUMAN	A	743	ENSP00000373370:S743A	ENSP00000373370:S743A	S	-	1	0	FLG2	150594659	0.002000	0.14202	0.081000	0.20488	0.509000	0.34042	1.013000	0.29937	1.959000	0.56917	0.496000	0.49642	TCT		0.507	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		6	412	0	0	0	1	0	6	412				
SPOP	8405	broad.mit.edu	37	17	47696426	47696426	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr17:47696426A>G	ENST00000393328.2	-	6	762	c.397T>C	c.(397-399)Ttc>Ctc	p.F133L	SPOP_ENST00000347630.2_Missense_Mutation_p.F133L|SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000393331.3_Missense_Mutation_p.F133L|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F133V(4)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AATTTCTTGAATCCCCAGTCT	0.448										Prostate(2;0.17)																												ENST00000393331.3																			4	Substitution - Missense(4)	p.F133V(4)	prostate(4)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)Ttc>Ctc		speckle-type POZ protein							119.0	121.0	120.0					17																	47696426		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696426A>G	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.397T>C	17.37:g.47696426A>G	ENSP00000377001:p.Phe133Leu	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000393328.2_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L	p.F133L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	867	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.397T>C	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.927916	0.92389	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.60274	0.2256	M	0.80847	2.515	0.80722	D	1	P	0.52692	0.955	P	0.55087	0.768	T	0.63310	-0.6666	10	0.44086	T	0.13	-9.6576	15.258	0.73599	1.0:0.0:0.0:0.0	.	133	O43791	SPOP_HUMAN	L	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133L;ENSP00000377004:F133L;ENSP00000240327:F133L;ENSP00000425905:F133L;ENSP00000420908:F133L;ENSP00000426986:F133L;ENSP00000420960:F133L;ENSP00000426262:F133L;ENSP00000424119:F133L	ENSP00000240327:F133L	F	-	1	0	SPOP	45051425	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.131000	0.94446	2.261000	0.74972	0.460000	0.39030	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		5	79	0	0	0	1	0	5	79				
FLG	2312	broad.mit.edu	37	1	152285852	152285852	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr1:152285852A>G	ENST00000368799.1	-	3	1545	c.1510T>C	c.(1510-1512)Tcc>Ccc	p.S504P	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	504	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAATGCCTGGAGCTGTCTCGT	0.607									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(1510-1512)Tcc>Ccc		filaggrin							313.0	300.0	305.0					1																	152285852		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152285852A>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1510T>C	1.37:g.152285852A>G	ENSP00000357789:p.Ser504Pro					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S504P	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1545	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		504			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.1510T>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	11.49	1.654873	0.29425	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.03772	3.81	3.54	-3.24	0.05094	.	.	.	.	.	T	0.06234	0.0161	M	0.81682	2.555	0.09310	N	1	D	0.69078	0.997	D	0.81914	0.995	T	0.10268	-1.0637	9	0.49607	T	0.09	.	1.427	0.02325	0.378:0.3448:0.1089:0.1683	.	504	P20930	FILA_HUMAN	P	504;36	ENSP00000357789:S504P	ENSP00000357789:S504P	S	-	1	0	FLG	150552476	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.621000	0.05559	-0.723000	0.04915	0.414000	0.27820	TCC		0.607	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		28	648	0	0	0	1	0	28	648				
PCED1B	91523	broad.mit.edu	37	12	47471984	47471984	+	5'Flank	SNP	G	G	T			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr12:47471984G>T	ENST00000546455.1	+	0	0				AMIGO2_ENST00000429635.1_Missense_Mutation_p.H268N|AMIGO2_ENST00000266581.4_Missense_Mutation_p.H268N|AMIGO2_ENST00000321382.3_Missense_Mutation_p.H268N|AMIGO2_ENST00000550413.1_Missense_Mutation_p.H268N			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)	p.H268N(2)									TGACGCGAGTGCCTGGAGTCA	0.478																																						ENST00000266581.4																			2	Substitution - Missense(2)	p.H268N(2)	endometrium(1)|kidney(1)	endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(802-804)Cac>Aac		adhesion molecule with Ig-like domain 2							82.0	80.0	81.0					12																	47471984		2203	4300	6503	SO:0001631	upstream_gene_variant	347902				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		g.chr12:47471984G>T	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617		12.37:g.47471984G>T	Exception_encountered					AMIGO2_ENST00000429635.1_Missense_Mutation_p.H268N|AMIGO2_ENST00000550413.1_Missense_Mutation_p.H268N|AMIGO2_ENST00000321382.3_Missense_Mutation_p.H268N	p.H268N	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN			2	1268	-	Renal(347;0.138)|Lung SC(27;0.192)		268			LRRCT.		Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.802C>A	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	G	3.540	-0.093947	0.07053	.	.	ENSG00000139211	ENST00000266581;ENST00000550413;ENST00000429635;ENST00000321382	T;T;T;T	0.02345	4.33;4.33;4.33;4.33	4.66	1.51	0.23008	Cysteine-rich flanking region, C-terminal (1);	1.248050	0.05130	N	0.492435	T	0.02455	0.0075	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.48703	-0.9012	10	0.19590	T	0.45	-0.839	2.3375	0.04252	0.0966:0.2332:0.3903:0.2799	.	268	Q86SJ2	AMGO2_HUMAN	N	268	ENSP00000266581:H268N;ENSP00000449034:H268N;ENSP00000406020:H268N;ENSP00000320848:H268N	ENSP00000266581:H268N	H	-	1	0	AMIGO2	45758251	0.025000	0.19082	0.013000	0.15412	0.911000	0.54048	1.657000	0.37366	0.631000	0.30412	0.555000	0.69702	CAC		0.478	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		5	42	1	0	1	1	1	5	42				
PLA2G6	8398	broad.mit.edu	37	22	38509530	38509530	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr22:38509530A>C	ENST00000332509.3	-	15	2349	c.2166T>G	c.(2164-2166)ttT>ttG	p.F722L	PLA2G6_ENST00000335539.3_Missense_Mutation_p.F668L|PLA2G6_ENST00000402064.1_Missense_Mutation_p.F668L|BAIAP2L2_ENST00000381669.3_5'Flank|BAIAP2L2_ENST00000332536.5_5'Flank	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	722					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CCTTGGCCCCAAAAACAGTCT	0.622																																						ENST00000332509.3																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(2164-2166)ttT>ttG		phospholipase A2, group VI (cytosolic, calcium-independent)	Quinacrine(DB01103)						121.0	108.0	112.0					22																	38509530		2203	4300	6503	SO:0001583	missense	8398				cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane		g.chr22:38509530A>C	AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"""Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing"""	9039	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 2"""	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.2166T>G	22.37:g.38509530A>C	ENSP00000333142:p.Phe722Leu					PLA2G6_ENST00000335539.3_Missense_Mutation_p.F668L|PLA2G6_ENST00000402064.1_Missense_Mutation_p.F668L	p.F722L	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN			15	2349	-	Melanoma(58;0.045)		722					A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	37	c.2166T>G	CCDS13967.1	.	.	.	.	.	.	.	.	.	.	A	15.18	2.756638	0.49362	.	.	ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064	T;T;T	0.75477	-0.94;-0.94;-0.94	4.54	1.15	0.20763	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.314743	0.30151	N	0.010289	T	0.57710	0.2072	L	0.32530	0.975	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.39781	-0.9597	10	0.39692	T	0.17	-2.5192	5.8135	0.18479	0.7061:0.1409:0.153:0.0	.	668;722	O60733-2;O60733	.;PA2G6_HUMAN	L	722;583;668;668	ENSP00000333142:F722L;ENSP00000335149:F668L;ENSP00000386100:F668L	ENSP00000333142:F722L	F	-	3	2	PLA2G6	36839476	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	1.679000	0.37597	-0.127000	0.11661	0.459000	0.35465	TTT		0.622	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426		3	137	0	0	0	1	0	3	137				
PDZRN4	29951	broad.mit.edu	37	12	41966530	41966530	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr12:41966530G>A	ENST00000402685.2	+	10	1957	c.1949G>A	c.(1948-1950)aGc>aAc	p.S650N	PDZRN4_ENST00000539469.2_Missense_Mutation_p.S392N|PDZRN4_ENST00000298919.7_Missense_Mutation_p.S390N	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	650				S -> G (in Ref. 1 and 2; BAD18688). {ECO:0000305}.			ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TACTCAAGCAGCACAATTGAA	0.438																																						ENST00000298919.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(1168-1170)aGc>aAc		PDZ domain containing ring finger 4							119.0	108.0	112.0					12																	41966530		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41966530G>A	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.1949G>A	12.37:g.41966530G>A	ENSP00000384197:p.Ser650Asn					PDZRN4_ENST00000402685.2_Missense_Mutation_p.S650N|PDZRN4_ENST00000539469.2_Missense_Mutation_p.S392N	p.S390N			Q6ZMN7	PZRN4_HUMAN			10	1557	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	650					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.1169G>A	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.460724	0.26248	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.72942	-0.7;3.77;3.77	4.49	4.49	0.54785	.	0.203086	0.43579	D	0.000548	T	0.71151	0.3306	M	0.69823	2.125	0.58432	D	0.999998	P;B;B	0.40144	0.704;0.008;0.144	B;B;B	0.38378	0.272;0.055;0.224	T	0.75422	-0.3323	10	0.45353	T	0.12	-15.3968	18.0664	0.89392	0.0:0.0:1.0:0.0	.	650;390;392	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	N	650;392;390	ENSP00000384197:S650N;ENSP00000439990:S392N;ENSP00000298919:S390N	ENSP00000298919:S390N	S	+	2	0	PDZRN4	40252797	1.000000	0.71417	0.997000	0.53966	0.487000	0.33371	6.602000	0.74141	2.455000	0.83008	0.650000	0.86243	AGC		0.438	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		3	65	0	0	0	1	0	3	65				
CADM1	23705	broad.mit.edu	37	11	115047194	115047194	+	Nonstop_Mutation	SNP	C	C	A			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr11:115047194C>A	ENST00000452722.3	-	10	1349	c.1329G>T	c.(1327-1329)taG>taT	p.*443Y	CADM1_ENST00000537140.1_Intron|CADM1_ENST00000542447.2_Nonstop_Mutation_p.*415Y|CADM1_ENST00000536727.1_Nonstop_Mutation_p.*444Y|CADM1_ENST00000331581.6_Nonstop_Mutation_p.*472Y|CADM1_ENST00000537058.1_Nonstop_Mutation_p.*454Y	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		AAAGGCTGATCTAGATGAAGT	0.418																																						ENST00000542447.2																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(1243-1245)taG>taT		cell adhesion molecule 1							259.0	239.0	246.0					11																	115047194		2201	4296	6497	SO:0001578	stop_lost	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115047194C>A	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1329G>T	11.37:g.115047194C>A						CADM1_ENST00000331581.6_Nonstop_Mutation_p.*472Y|CADM1_ENST00000452722.2_Nonstop_Mutation_p.*443Y|CADM1_ENST00000536727.1_Nonstop_Mutation_p.*444Y|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000537058.1_Nonstop_Mutation_p.*454Y	p.*415Y	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	9	1373	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	0						Nonstop_Mutation	SNP	ENST00000452722.3	37	c.1245G>T	CCDS8373.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.224554	0.39300	.	.	ENSG00000182985	ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581;ENST00000541325	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.277	0.94036	0.0:1.0:0.0:0.0	.	.	.	.	Y	415;443;454;444;374;472;128	.	.	X	-	3	2	CADM1	114552404	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.866000	0.48420	2.782000	0.95742	0.655000	0.94253	TAG		0.418	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		7	74	1	0	6.40141e-05	1	7.73504e-05	7	74				
KIAA2018	205717	broad.mit.edu	37	3	113378681	113378681	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr3:113378681A>T	ENST00000478658.1	-	5	1865	c.1848T>A	c.(1846-1848)aaT>aaA	p.N616K	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.N616K			Q68DE3	K2018_HUMAN	KIAA2018	616						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GCACTGAATTATTAGACCCTA	0.448																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(1846-1848)aaT>aaA		KIAA2018							134.0	130.0	131.0					3																	113378681		1916	4129	6045	SO:0001583	missense	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113378681A>T	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.1848T>A	3.37:g.113378681A>T	ENSP00000420721:p.Asn616Lys					KIAA2018_ENST00000478658.1_Missense_Mutation_p.N616K|KIAA2018_ENST00000491165.1_Intron	p.N616K	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	2258	-			616					Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	c.1848T>A	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	A	10.01	1.233570	0.22626	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.13420	2.59;2.59	5.26	2.91	0.33838	.	0.689875	0.14781	N	0.298798	T	0.06050	0.0157	N	0.19112	0.55	0.25415	N	0.988324	B	0.24823	0.112	B	0.16722	0.016	T	0.39761	-0.9598	10	0.06236	T	0.91	-3.7844	3.8717	0.09039	0.5569:0.0:0.2892:0.1539	.	616	Q68DE3	K2018_HUMAN	K	616	ENSP00000320794:N616K;ENSP00000420721:N616K	ENSP00000320794:N616K	N	-	3	2	KIAA2018	114861371	0.592000	0.26832	1.000000	0.80357	0.994000	0.84299	1.957000	0.40392	0.830000	0.34757	0.528000	0.53228	AAT		0.448	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		5	35	0	0	0	1	0	5	35				
TSC2	7249	broad.mit.edu	37	16	2111921	2111921	+	Missense_Mutation	SNP	C	C	A	rs137854007		TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr16:2111921C>A	ENST00000219476.3	+	12	1799	c.1169C>A	c.(1168-1170)aCg>aAg	p.T390K	TSC2_ENST00000568454.1_Missense_Mutation_p.T401K|TSC2_ENST00000439673.2_Missense_Mutation_p.T353K|TSC2_ENST00000382538.6_Missense_Mutation_p.T341K|TSC2_ENST00000353929.4_Missense_Mutation_p.T390K|TSC2_ENST00000350773.4_Missense_Mutation_p.T390K|TSC2_ENST00000401874.2_Missense_Mutation_p.T390K	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	390	Required for interaction with TSC1.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CTGTTGACCACGGTGGAGGAG	0.587			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"""D, Mis, N, F, S"""	tuberous sclerosis 2 gene			"""E, O"""		"""hamartoma, renal cell"""			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(1168-1170)aCg>aAg		tuberous sclerosis 2							126.0	106.0	113.0					16																	2111921		2198	4300	6498	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2111921C>A	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.1169C>A	16.37:g.2111921C>A	ENSP00000219476:p.Thr390Lys					TSC2_ENST00000401874.2_Missense_Mutation_p.T390K|TSC2_ENST00000353929.4_Missense_Mutation_p.T390K|TSC2_ENST00000568454.1_Missense_Mutation_p.T401K|TSC2_ENST00000350773.4_Missense_Mutation_p.T390K|TSC2_ENST00000439673.2_Missense_Mutation_p.T353K|TSC2_ENST00000382538.6_Missense_Mutation_p.T341K	p.T390K	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			12	1799	+		Hepatocellular(780;0.0202)	390			Required for interaction with TSC1.		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.1169C>A	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	.	27.7	4.854839	0.91355	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	T;T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35;-1.35	5.29	5.29	0.74685	Armadillo-like helical (1);Armadillo-type fold (1);Tuberin, N-terminal (1);	0.050707	0.85682	D	0.000000	D	0.87386	0.6164	L	0.56769	1.78	0.80722	D	1	D;D;D;D;D;D	0.76494	0.99;0.994;0.986;0.997;0.998;0.999	D;D;P;D;D;D	0.87578	0.949;0.954;0.653;0.975;0.979;0.998	D	0.83516	0.0083	10	0.17832	T	0.49	-14.9829	18.9134	0.92494	0.0:1.0:0.0:0.0	.	341;353;390;390;390;390	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	K	390;390;390;353;341;390	ENSP00000219476:T390K;ENSP00000384468:T390K;ENSP00000248099:T390K;ENSP00000399232:T353K;ENSP00000371978:T341K;ENSP00000344383:T390K	ENSP00000219476:T390K	T	+	2	0	TSC2	2051922	1.000000	0.71417	0.994000	0.49952	0.929000	0.56500	5.436000	0.66538	2.471000	0.83476	0.561000	0.74099	ACG		0.587	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		3	126	1	0	0.00909568	1	0.010551	3	126				
PRDM7	11105	broad.mit.edu	37	16	90126823	90126823	+	Missense_Mutation	SNP	T	T	G	rs376401117	byFrequency	TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr16:90126823T>G	ENST00000449207.2	-	9	1178	c.1159A>C	c.(1159-1161)Atg>Ctg	p.M387L	PRDM7_ENST00000325921.6_Intron|PRDM7_ENST00000407825.1_Intron	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	387					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCATCCCCATACCAGACCAG	0.522													.|||	3	0.000599042	0.0	0.0	5008	,	,		19711	0.002		0.0	False		,,,				2504	0.001					ENST00000449207.2																			0				lung(2)|ovary(2)|stomach(1)	5						c.(1159-1161)Atg>Ctg		PR domain containing 7		T	LEU/MET,	0,3874		0,0,1937	115.0	114.0	115.0		1159,	2.2	1.0	16		115	1,8265		0,1,4132	no	missense,intron	PRDM7	NM_001098173.1,NM_052996.2	15,	0,1,6069	GG,GT,TT		0.0121,0.0,0.0082	benign,	387/493,	90126823	1,12139	1937	4133	6070	SO:0001583	missense	11105					chromosome|nucleus	nucleic acid binding	g.chr16:90126823T>G	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.1159A>C	16.37:g.90126823T>G	ENSP00000396732:p.Met387Leu					PRDM7_ENST00000325921.6_Intron|PRDM7_ENST00000407825.1_Intron	p.M387L	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	9	1178	-		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	387					A4Q9G8|Q08EM4|Q9NQW4	Missense_Mutation	SNP	ENST00000449207.2	37	c.1159A>C	CCDS45557.1	.	.	.	.	.	.	.	.	.	.	.	7.534	0.659380	0.14645	0.0	1.21E-4	ENSG00000126856	ENST00000449207	T	0.10960	2.82	2.22	2.22	0.28083	.	.	.	.	.	T	0.05364	0.0142	N	0.14661	0.345	0.80722	D	1	B	0.13594	0.008	B	0.04013	0.001	T	0.34700	-0.9818	8	.	.	.	-8.2214	6.7211	0.23330	0.0:0.0:0.0:1.0	.	387	Q9NQW5	PRDM7_HUMAN	L	387	ENSP00000396732:M387L	.	M	-	1	0	PRDM7	88654324	0.994000	0.37717	0.991000	0.47740	0.589000	0.36550	3.111000	0.50360	0.995000	0.38917	0.392000	0.25879	ATG		0.522	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420560.1			3	87	0	0	0	1	0	3	87				
OR4C6	219432	broad.mit.edu	37	11	55432916	55432916	+	Missense_Mutation	SNP	C	C	G	rs200621615		TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr11:55432916C>G	ENST00000314259.3	+	1	303	c.274C>G	c.(274-276)Ctc>Gtc	p.L92V		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TACCATCTCTCTCAAAGGCTG	0.502																																						ENST00000314259.3																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(274-276)Ctc>Gtc		olfactory receptor, family 4, subfamily C, member 6							144.0	130.0	135.0					11																	55432916		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55432916C>G	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.274C>G	11.37:g.55432916C>G	ENSP00000324769:p.Leu92Val						p.L92V	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	303	+			92					B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.274C>G	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	C	5.154	0.214046	0.09810	.	.	ENSG00000181903	ENST00000314259	T	0.01981	4.52	3.83	-1.64	0.08318	GPCR, rhodopsin-like superfamily (1);	0.302718	0.18248	N	0.147040	T	0.01730	0.0055	N	0.25380	0.74	0.09310	N	1	P	0.42203	0.773	B	0.41332	0.354	T	0.48080	-0.9066	10	0.54805	T	0.06	.	4.625	0.12474	0.0:0.1874:0.3185:0.4942	.	92	Q8NH72	OR4C6_HUMAN	V	92	ENSP00000324769:L92V	ENSP00000324769:L92V	L	+	1	0	OR4C6	55189492	0.000000	0.05858	0.197000	0.23402	0.011000	0.07611	0.239000	0.18023	0.079000	0.16929	0.543000	0.68304	CTC		0.502	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		6	52	0	0	0	1	0	6	52				
PKHD1L1	93035	broad.mit.edu	37	8	110437366	110437366	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr8:110437366C>A	ENST00000378402.5	+	24	2854	c.2750C>A	c.(2749-2751)cCa>cAa	p.P917Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	917					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AATAATTGGCCAGGCGAGTCA	0.338										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(2749-2751)cCa>cAa		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							50.0	49.0	49.0					8																	110437366		1831	4089	5920	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110437366C>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.2750C>A	8.37:g.110437366C>A	ENSP00000367655:p.Pro917Gln	HNSCC(38;0.096)					p.P917Q	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		24	2854	+			917					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.2750C>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367472	0.61513	.	.	ENSG00000205038	ENST00000378402	D	0.85629	-2.01	5.16	5.16	0.70880	.	0.307930	0.27749	N	0.018016	D	0.87665	0.6234	L	0.50333	1.59	0.27431	N	0.954004	D	0.71674	0.998	P	0.62382	0.901	T	0.79422	-0.1810	10	0.15499	T	0.54	.	14.4958	0.67685	0.0:1.0:0.0:0.0	.	917	Q86WI1	PKHL1_HUMAN	Q	917	ENSP00000367655:P917Q	ENSP00000367655:P917Q	P	+	2	0	PKHD1L1	110506542	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.814000	0.55643	2.547000	0.85894	0.557000	0.71058	CCA		0.338	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		2	6	1	0	1	1	1	2	6				
BAGE2	85319	broad.mit.edu	37	21	11098839	11098839	+	RNA	SNP	C	C	T	rs376595723		TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr21:11098839C>T	ENST00000470054.1	-	0	86							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		agacgagccacggtgttacag	0.617																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11098839C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098839C>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	86	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.617	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	49	0	0	0	1	0	4	49				
LARP1	23367	broad.mit.edu	37	5	154181822	154181822	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr5:154181822delG	ENST00000336314.4	+	11	1765	c.1741delG	c.(1741-1743)gggfs	p.G582fs		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	659					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCGGCACCCAGGGGGGGACCG	0.547																																						ENST00000336314.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1741-1743)ggfs		La ribonucleoprotein domain family, member 1							79.0	76.0	77.0					5																	154181822		2203	4300	6503	SO:0001589	frameshift_variant	23367						protein binding|RNA binding	g.chr5:154181822delG	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1741delG	5.37:g.154181822delG	ENSP00000336721:p.Gly582fs						p.G582fs	NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		11	1765	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	659					O94836|Q8N4M2|Q8NB73|Q9UFD7	Frame_Shift_Del	DEL	ENST00000336314.4	37	c.1741delG	CCDS4328.1																																																																																				0.547	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		7	223						7	223	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149518533	149518533	+	RNA	DEL	C	C	-	rs11353848		TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr7:149518533delC	ENST00000378016.2	+	0	12602							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GAGGAGCAGTCCCAGAGCCAG	0.711																																						ENST00000378016.2																			0													SCO-spondin				326,3200		64,198,1501	4.0	5.0	5.0			3.0	1.0	7	dbSNP_120	5	1295,6157		261,773,2692	no	frameshift	SSPO	NM_198455.2		325,971,4193	A1A1,A1R,RR		17.3779,9.2456,14.7659			149518533	1621,9357	1809	3718	5527			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149518533delC	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149518533delC										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	12602	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	DEL	ENST00000378016.2	37																																																																																						0.711	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				9	1						9	1	---	---	---	---
CRB2	286204	broad.mit.edu	37	9	126136215	126136216	+	Intron	INS	-	-	G	rs534788085	byFrequency	TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr9:126136215_126136216insG	ENST00000373631.3	+	10	3390				CRB2_ENST00000373629.2_Intron|CRB2_ENST00000359999.3_Frame_Shift_Ins_p.G1136fs	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2						cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						ATGGCTGGGCAGGGGGGTGGGC	0.698													GGgGGG|GGGGGG|GGGGGGG|insertion	14	0.00279553	0.0015	0.0072	5008	,	,		12110	0.0		0.003	False		,,,				2504	0.0041					ENST00000359999.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						c.(3403-3408)gcggggfs		crumbs homolog 2 (Drosophila)				13,1767		4,5,881						-3.4	0.0			2	44,3766		11,22,1872	no	intron	CRB2	NM_173689.5		15,27,2753	A1A1,A1R,RR		1.1549,0.7303,1.0197				57,5533				SO:0001627	intron_variant	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126136215_126136216insG	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.3389+16->G	9.37:g.126136221_126136221dupG						CRB2_ENST00000373631.3_Intron|CRB2_ENST00000373629.2_Intron	p.AG1135fs			Q5IJ48	CRUM2_HUMAN			10	3496_3497	+			909			EGF-like 14.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Frame_Shift_Ins	INS	ENST00000373631.3	37	c.3405_3406insG	CCDS6852.2																																																																																				0.698	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		3	5						3	5	---	---	---	---
NLK	51701	broad.mit.edu	37	17	26370029	26370031	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr17:26370029_26370031delCAC	ENST00000407008.3	+	1	848_850	c.130_132delCAC	c.(130-132)cacdel	p.H48del	NLK_ENST00000582037.1_In_Frame_Del_p.H48del|NLK_ENST00000583517.1_Intron	NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	48	Poly-His.|Required for interaction with TAB2. {ECO:0000250}.|Sufficient for interaction with DAPK3.				intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of Wnt signaling pathway (GO:0030178)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|serine phosphorylation of STAT3 protein (GO:0033136)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|SH2 domain binding (GO:0042169)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TCCTCACCTGCACCACCACCACC	0.611																																						ENST00000407008.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14						c.(130-132)del		nemo-like kinase				19,0,4177		0,0,19,0,0,2079						-0.9	1.0			101	28,4,8132		1,0,26,0,4,4051	no	codingComplex	NLK	NM_016231.4		1,0,45,0,4,6130	A1A1,A1A2,A1R,A2A2,A2R,RR		0.392,0.4528,0.4126				47,4,12309				SO:0001651	inframe_deletion	51701				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding	g.chr17:26370029_26370031delCAC	AF197898	CCDS11224.2	17q11.2	2005-12-22	2005-12-22		ENSG00000087095	ENSG00000087095			29858	protein-coding gene	gene with protein product		609476	"""nemo like kinase"""			9448268, 10863097	Standard	NM_016231		Approved		uc010crj.3	Q9UBE8	OTTHUMG00000132451	ENST00000407008.3:c.130_132delCAC	17.37:g.26370038_26370040delCAC	ENSP00000384625:p.His48del					NLK_ENST00000582037.1_In_Frame_Del_p.H48del|NLK_ENST00000583517.1_Intron	p.H48del	NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	1	848_850	+	all_lung(13;0.000343)|Lung NSC(42;0.00184)		48			Poly-His.		B2RCX1|Q2PNI9|Q6P2A3	In_Frame_Del	DEL	ENST00000407008.3	37	c.130_132delCAC	CCDS11224.2																																																																																				0.611	NLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255607.3	NM_016231		2	4						2	4	---	---	---	---
NCAN	1463	broad.mit.edu	37	19	19360601	19360603	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr19:19360601_19360603delCAC	ENST00000252575.6	+	15	3946_3948	c.3847_3849delCAC	c.(3847-3849)cacdel	p.H1287del	NCAN_ENST00000538881.1_In_Frame_Del_p.H738del	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1287					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	GATGCGGCGAcaccaccaccacc	0.596																																						ENST00000252575.5																			0				breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(3847-3849)del		neurocan																																				SO:0001651	inframe_deletion	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19360601_19360603delCAC	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3847_3849delCAC	19.37:g.19360610_19360612delCAC	ENSP00000252575:p.His1287del					NCAN_ENST00000538881.1_In_Frame_Del_p.H738del	p.H1287del	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		15	3890_3892	+			1287					Q9UPK6	In_Frame_Del	DEL	ENST00000252575.6	37	c.3847_3849delCAC	CCDS12397.1																																																																																				0.596	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		9	105						9	105	---	---	---	---
DGCR5	26220	broad.mit.edu	37	22	19010768	19010768	+	RNA	DEL	G	G	-	rs143029475	byFrequency	TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr22:19010768delG	ENST00000440005.2	+	0	838				DGCR10_ENST00000609839.1_RNA					DiGeorge syndrome critical region gene 5 (non-protein coding)																		CCCTCTCCCTGCCCCCTGCCC	0.672													|||unknown(LONG_INSERTION)	776	0.154952	0.2307	0.1816	5008	,	,		11861	0.1032		0.1332	False		,,,				2504	0.1094					ENST00000440005.2																			0																																																			0							g.chr22:19010768delG	X91348		22q11	2012-10-16	2008-08-13		ENSG00000237517	ENSG00000237517		"""Long non-coding RNAs"""	16757	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 37"", ""long intergenic non-protein coding RNA 37"""					8659529	Standard	NR_002733		Approved	NCRNA00037, LINC00037	uc021wku.1		OTTHUMG00000149977		22.37:g.19010768delG														0	838	+									RNA	DEL	ENST00000440005.2	37																																																																																						0.672	DGCR5-001	KNOWN	basic	antisense	antisense	OTTHUMT00000314911.3	NR_002733		3	3						3	3	---	---	---	---
