#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
TTN	7273	broad.mit.edu	37	2	179611913	179611913	+	Intron	SNP	T	T	G			TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr2:179611913T>G	ENST00000591111.1	-	46	10585				TTN_ENST00000360870.5_Silent_p.R5072R|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGGAGTATCTCTCTAGAGTC	0.532																																						ENST00000360870.5																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(15214-15216)Aga>Cga		titin							71.0	75.0	74.0					2																	179611913		2203	4300	6503	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179611913T>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-5265A>C	2.37:g.179611913T>G						TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron	p.R5072R	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	15436	-			1179			Ig-like 31.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.15214A>C																																																																																					0.532	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	79	0	0	0	1	0	4	79				
LIPK	643414	broad.mit.edu	37	10	90490787	90490787	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr10:90490787A>G	ENST00000404190.1	+	3	271	c.271A>G	c.(271-273)Agt>Ggt	p.S91G		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	91					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		TGCATCTGCCAGTAACTGGAT	0.458																																						ENST00000404190.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12						c.(271-273)Agt>Ggt		lipase, family member K							72.0	72.0	72.0					10																	90490787		2027	4226	6253	SO:0001583	missense	643414				lipid catabolic process	extracellular region	hydrolase activity	g.chr10:90490787A>G		CCDS44455.1	10q23.31	2008-02-04	2007-02-27	2007-02-27	ENSG00000204021	ENSG00000204021			23444	protein-coding gene	gene with protein product		613922	"""lipase-like, ab-hydrolase domain containing 2"""	LIPL2			Standard	NM_001080518		Approved	bA186O14.2	uc010qmv.2	Q5VXJ0	OTTHUMG00000018693	ENST00000404190.1:c.271A>G	10.37:g.90490787A>G	ENSP00000383900:p.Ser91Gly						p.S91G	NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)	3	271	+		Colorectal(252;0.0381)	91					A7KIH8	Missense_Mutation	SNP	ENST00000404190.1	37	c.271A>G	CCDS44455.1	.	.	.	.	.	.	.	.	.	.	A	13.89	2.370814	0.42003	.	.	ENSG00000204021	ENST00000404190	D	0.85484	-1.99	5.45	4.32	0.51571	Partial AB-hydrolase lipase domain (1);	0.268970	0.32935	N	0.005471	T	0.79112	0.4391	L	0.46885	1.475	0.37198	D	0.90425	B	0.06786	0.001	B	0.17979	0.02	T	0.75439	-0.3317	10	0.41790	T	0.15	-8.8012	8.2988	0.32001	0.8413:0.0:0.1587:0.0	.	91	Q5VXJ0	LIPK_HUMAN	G	91	ENSP00000383900:S91G	ENSP00000383900:S91G	S	+	1	0	LIPK	90480767	0.005000	0.15991	0.860000	0.33809	0.983000	0.72400	1.965000	0.40471	1.090000	0.41315	0.533000	0.62120	AGT		0.458	LIPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049253.2	XM_061222		4	6	0	0	0	1	0	4	6				
PHLPP1	23239	broad.mit.edu	37	18	60645971	60645971	+	Silent	SNP	C	C	T			TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr18:60645971C>T	ENST00000262719.5	+	17	4695	c.4461C>T	c.(4459-4461)agC>agT	p.S1487S	PHLPP1_ENST00000400316.4_Silent_p.S975S			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1487					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						CTGAGATGAGCAGCGAGGTGG	0.642																																						ENST00000400316.4																			0				endometrium(2)|kidney(2)|lung(13)	17						c.(2923-2925)agC>agT		PH domain and leucine rich repeat protein phosphatase 1							29.0	32.0	31.0					18																	60645971		2077	4202	6279	SO:0001819	synonymous_variant	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60645971C>T	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.4461C>T	18.37:g.60645971C>T						PHLPP1_ENST00000262719.5_Silent_p.S1487S	p.S975S	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN			17	4706	+			1487					A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Silent	SNP	ENST00000262719.5	37	c.2925C>T	CCDS45881.2																																																																																				0.642	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		3	19	0	0	0	1	0	3	19				
GRIA4	2893	broad.mit.edu	37	11	105732820	105732820	+	Silent	SNP	G	G	T			TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr11:105732820G>T	ENST00000530497.1	+	4	558	c.558G>T	c.(556-558)gtG>gtT	p.V186V	GRIA4_ENST00000428631.2_Silent_p.V186V|GRIA4_ENST00000393125.2_Silent_p.V186V|GRIA4_ENST00000282499.5_Silent_p.V186V|GRIA4_ENST00000393127.2_Silent_p.V186V|GRIA4_ENST00000525187.1_Silent_p.V186V			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	186					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		CTATATGTGTGGAAAATTTTA	0.358																																						ENST00000393127.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(556-558)gtG>gtT		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						89.0	88.0	88.0					11																	105732820		2202	4298	6500	SO:0001819	synonymous_variant	0				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105732820G>T	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.558G>T	11.37:g.105732820G>T						GRIA4_ENST00000530497.1_Silent_p.V186V|GRIA4_ENST00000282499.5_Silent_p.V186V|GRIA4_ENST00000525187.1_Silent_p.V186V|GRIA4_ENST00000428631.2_Silent_p.V186V|GRIA4_ENST00000393125.2_Silent_p.V186V	p.V186V	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	5	1004	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	186					Q86XE8	Silent	SNP	ENST00000530497.1	37	c.558G>T	CCDS8333.1																																																																																				0.358	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			10	31	1	0	5.50884e-06	1	5.9169e-06	10	31				
PRB4	5545	broad.mit.edu	37	12	11461589	11461589	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr12:11461589A>G	ENST00000535904.1	-	3	361	c.328T>C	c.(328-330)Tcc>Ccc	p.S110P	PRB4_ENST00000279575.1_Missense_Mutation_p.S110P|PRB4_ENST00000445719.2_Missense_Mutation_p.S110P			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	131	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GTACCTTGGGACTGGTTTCCT	0.602										HNSCC(22;0.051)																												ENST00000279575.1																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						c.(328-330)Tcc>Ccc		proline-rich protein BstNI subfamily 4							166.0	175.0	172.0					12																	11461589		2202	4300	6502	SO:0001583	missense	5545					extracellular region		g.chr12:11461589A>G		CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.328T>C	12.37:g.11461589A>G	ENSP00000442834:p.Ser110Pro	HNSCC(22;0.051)				PRB4_ENST00000445719.2_Missense_Mutation_p.S110P|PRB4_ENST00000535904.1_Missense_Mutation_p.S110P	p.S110P	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN			3	361	-			152			9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP	ENST00000535904.1	37	c.328T>C	CCDS8641.1	.	.	.	.	.	.	.	.	.	.	.	0.007	-1.945176	0.00479	.	.	ENSG00000230657	ENST00000279575;ENST00000535904;ENST00000445719	T;T;T	0.04706	3.57;3.57;3.57	0.678	-1.36	0.09085	.	.	.	.	.	T	0.02380	0.0073	N	0.15975	0.35	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43669	-0.9377	8	0.32370	T	0.25	.	.	.	.	.	110	E9PAL0	.	P	110	ENSP00000279575:S110P;ENSP00000442834:S110P;ENSP00000412740:S110P	ENSP00000279575:S110P	S	-	1	0	PRB4	11352856	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.351000	0.02622	-3.181000	0.00222	-3.255000	0.00050	TCC		0.602	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723		6	366	0	0	0	1	0	6	366				
RIMS1	22999	broad.mit.edu	37	6	73110295	73110295	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr6:73110295T>A	ENST00000521978.1	+	34	4958	c.4958T>A	c.(4957-4959)aTc>aAc	p.I1653N	RIMS1_ENST00000538414.1_Missense_Mutation_p.I459N|RIMS1_ENST00000348717.5_Missense_Mutation_p.I1436N|RIMS1_ENST00000491071.2_Missense_Mutation_p.I1442N|RIMS1_ENST00000517960.1_Missense_Mutation_p.I1436N|RIMS1_ENST00000518273.1_Missense_Mutation_p.I1332N|RIMS1_ENST00000414192.2_Missense_Mutation_p.I180N|RIMS1_ENST00000425662.2_Missense_Mutation_p.I721N|RIMS1_ENST00000517827.1_Missense_Mutation_p.I787N|RIMS1_ENST00000264839.7_Missense_Mutation_p.I1502N|RIMS1_ENST00000401910.3_Missense_Mutation_p.I973N|RIMS1_ENST00000522291.1_Missense_Mutation_p.I1252N|RIMS1_ENST00000523963.1_Missense_Mutation_p.I778N|RIMS1_ENST00000520567.1_Missense_Mutation_p.I1303N|RIMS1_ENST00000431478.2_3'UTR	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1653					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AGCATGGTGATCGGATGGTAC	0.537																																						ENST00000264839.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102						c.(4504-4506)aTc>aAc		regulating synaptic membrane exocytosis 1							143.0	147.0	146.0					6																	73110295		2103	4245	6348	SO:0001583	missense	0				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:73110295T>A	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.4958T>A	6.37:g.73110295T>A	ENSP00000428417:p.Ile1653Asn					RIMS1_ENST00000491071.2_Missense_Mutation_p.I1442N|RIMS1_ENST00000521978.1_Missense_Mutation_p.I1653N|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000517827.1_Missense_Mutation_p.I787N|RIMS1_ENST00000348717.5_Missense_Mutation_p.I1436N|RIMS1_ENST00000517960.1_Missense_Mutation_p.I1436N|RIMS1_ENST00000538414.1_Missense_Mutation_p.I459N|RIMS1_ENST00000425662.2_Missense_Mutation_p.I721N|RIMS1_ENST00000523963.1_Missense_Mutation_p.I778N|RIMS1_ENST00000401910.3_Missense_Mutation_p.I973N|RIMS1_ENST00000414192.2_Missense_Mutation_p.I180N|RIMS1_ENST00000518273.1_Missense_Mutation_p.I1332N|RIMS1_ENST00000520567.1_Missense_Mutation_p.I1303N|RIMS1_ENST00000522291.1_Missense_Mutation_p.I1252N	p.I1502N			Q86UR5	RIMS1_HUMAN			30	4505	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	1653					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.4505T>A	CCDS47449.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	23.9|23.9|23.9	4.467709|4.467709|4.467709	0.84533|0.84533|0.84533	.|.|.	.|.|.	ENSG00000079841|ENSG00000079841|ENSG00000079841	ENST00000517433|ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000517827;ENST00000370420;ENST00000538414;ENST00000414192|ENST00000522211	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	.|0.76060|.	.|-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99|.	5.21|5.21|5.21	5.21|5.21|5.21	0.72293|0.72293|0.72293	.|C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);|.	.|0.000000|.	.|0.64402|.	.|D|.	.|0.000011|.	T|T|T	0.69504|0.69504|0.69504	0.3118|0.3118|0.3118	M|M|M	0.78637|0.78637|0.78637	2.42|2.42|2.42	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|B;P;D;D;D;D;D;D;D;D;D;D;D|.	.|0.71674|.	.|0.262;0.621;0.996;0.985;0.997;0.998;0.992;0.998;0.997;0.998;0.992;0.998;0.997|.	.|B;B;D;P;D;P;D;P;D;D;D;D;D|.	.|0.79784|.	.|0.211;0.208;0.993;0.705;0.979;0.891;0.955;0.858;0.979;0.988;0.97;0.991;0.979|.	T|T|T	0.71988|0.71988|0.71988	-0.4426|-0.4426|-0.4426	5|10|5	.|0.72032|.	.|D|.	.|0.01|.	-18.1571|-18.1571|-18.1571	15.3861|15.3861|15.3861	0.74703|0.74703|0.74703	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	.|277;459;787;778;1502;973;1252;556;1332;1436;729;1442;1653|.	.|B7Z6K9;B7Z7W2;B7Z3S3;E9PHF5;E9PHR1;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5|.	.|.;.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN|.	E|N|T	998|1442;1502;1442;1436;1332;1252;1502;1436;1332;1303;1252;1653;973;778;721;787;701;459;180|571	.|ENSP00000430101:I1442N;ENSP00000275037:I1436N;ENSP00000264839:I1502N;ENSP00000429959:I1436N;ENSP00000430408:I1332N;ENSP00000430502:I1303N;ENSP00000430932:I1252N;ENSP00000428417:I1653N;ENSP00000385649:I973N;ENSP00000428328:I778N;ENSP00000411235:I721N;ENSP00000428367:I787N;ENSP00000359448:I701N;ENSP00000439730:I459N;ENSP00000402273:I180N|.	.|ENSP00000264839:I1502N|.	D|I|S	+|+|+	3|2|1	2|0|0	RIMS1|RIMS1|RIMS1	73167016|73167016|73167016	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.560000|0.560000|0.560000	0.28344|0.28344|0.28344	0.944000|0.944000|0.944000	0.59088|0.59088|0.59088	7.936000|7.936000|7.936000	0.87665|0.87665|0.87665	2.073000|2.073000|2.073000	0.62155|0.62155|0.62155	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	GAT|ATC|TCG		0.537	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			28	43	0	0	0	1	0	28	43				
AGFG1	3267	broad.mit.edu	37	2	228399693	228399693	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr2:228399693C>A	ENST00000310078.8	+	8	1417	c.1157C>A	c.(1156-1158)tCt>tAt	p.S386Y	AGFG1_ENST00000373671.3_Missense_Mutation_p.S346Y|AGFG1_ENST00000409315.1_Missense_Mutation_p.S365Y|AGFG1_ENST00000409979.2_Missense_Mutation_p.S410Y|AGFG1_ENST00000409171.1_Missense_Mutation_p.S386Y	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	386					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of ARF GTPase activity (GO:0032312)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)	ARF GTPase activator activity (GO:0008060)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						GTTTTCAGTTCTGCAGCCACC	0.453																																						ENST00000310078.7																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						c.(1156-1158)tCt>tAt		ArfGAP with FG repeats 1							146.0	132.0	137.0					2																	228399693		2203	4300	6503	SO:0001583	missense	3267				cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr2:228399693C>A		CCDS2467.1, CCDS46533.1, CCDS46534.1, CCDS46535.1	2q36	2009-11-30	2008-09-22	2008-09-22	ENSG00000173744	ENSG00000173744		"""ADP-ribosylation factor GTPase activating proteins"""	5175	protein-coding gene	gene with protein product		600862	"""HIV-1 Rev binding protein"""	HRB		7637788	Standard	NM_004504		Approved	RIP, RAB	uc002vpd.2	P52594	OTTHUMG00000133186	ENST00000310078.8:c.1157C>A	2.37:g.228399693C>A	ENSP00000312059:p.Ser386Tyr					AGFG1_ENST00000409315.1_Missense_Mutation_p.S365Y|AGFG1_ENST00000409979.2_Missense_Mutation_p.S410Y|AGFG1_ENST00000373671.3_Missense_Mutation_p.S346Y|AGFG1_ENST00000409171.1_Missense_Mutation_p.S386Y	p.S386Y	NM_001135188.1|NM_004504.4	NP_001128660.1|NP_004495.2	P52594	AGFG1_HUMAN			8	1417	+			386					B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Missense_Mutation	SNP	ENST00000310078.8	37	c.1157C>A	CCDS2467.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040366	0.75732	.	.	ENSG00000173744	ENST00000409979;ENST00000542592;ENST00000310078;ENST00000409315;ENST00000373671;ENST00000409171	T;T;T;T;T	0.25579	1.81;1.86;1.81;1.79;1.86	5.69	5.69	0.88448	.	0.114829	0.64402	D	0.000008	T	0.33469	0.0864	N	0.19112	0.55	0.44316	D	0.997196	D;P;D;D	0.61080	0.989;0.924;0.976;0.981	P;P;P;B	0.58172	0.834;0.461;0.556;0.355	T	0.08229	-1.0732	10	0.62326	D	0.03	.	18.005	0.89207	0.0:1.0:0.0:0.0	.	346;386;410;386	P52594-2;P52594-3;E9PHX7;P52594	.;.;.;AGFG1_HUMAN	Y	410;395;386;365;346;386	ENSP00000387282:S410Y;ENSP00000312059:S386Y;ENSP00000387154:S365Y;ENSP00000362775:S346Y;ENSP00000387218:S386Y	ENSP00000312059:S386Y	S	+	2	0	AGFG1	228107937	1.000000	0.71417	0.989000	0.46669	0.970000	0.65996	5.328000	0.65887	2.695000	0.91970	0.650000	0.86243	TCT		0.453	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256895.2	NM_004504		22	47	1	0	4.72057e-08	1	5.26525e-08	22	47				
TRIM11	81559	broad.mit.edu	37	1	228588714	228588714	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr1:228588714A>T	ENST00000284551.6	-	3	964	c.686T>A	c.(685-687)aTc>aAc	p.I229N	TRIM11_ENST00000366699.3_Missense_Mutation_p.I229N|TRIM11_ENST00000460651.1_5'UTR|TRIM11_ENST00000493030.2_Missense_Mutation_p.I104N	NM_145214.2	NP_660215.1	Q96F44	TRI11_HUMAN	tripartite motif containing 11	229					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of neurogenesis (GO:0050768)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of viral entry into host cell (GO:0046598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				GAGCTCGGCGATGAGCTCAGC	0.721																																						ENST00000493030.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18						c.(310-312)aTc>aAc		tripartite motif containing 11							10.0	12.0	11.0					1																	228588714		2190	4280	6470	SO:0001583	missense	81559				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr1:228588714A>T	AF220125	CCDS31048.1	1q42.13	2013-01-09	2011-01-25		ENSG00000154370	ENSG00000154370		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16281	protein-coding gene	gene with protein product		607868	"""tripartite motif-containing 11"""			11331580	Standard	NM_145214		Approved	RNF92, BIA1	uc001hss.3	Q96F44	OTTHUMG00000039773	ENST00000284551.6:c.686T>A	1.37:g.228588714A>T	ENSP00000284551:p.Ile229Asn					TRIM11_ENST00000366699.3_Missense_Mutation_p.I229N|TRIM11_ENST00000460651.1_5'UTR|TRIM11_ENST00000284551.6_Missense_Mutation_p.I229N	p.I104N			Q96F44	TRI11_HUMAN			2	4020	-		Prostate(94;0.0724)	229					A6NKE2|B2RB82|B3KUS3|B4DX88|Q5VSU1|Q8NCA6|Q9C022	Missense_Mutation	SNP	ENST00000284551.6	37	c.311T>A	CCDS31048.1	.	.	.	.	.	.	.	.	.	.	a	16.28	3.077397	0.55753	.	.	ENSG00000154370	ENST00000284551;ENST00000366699	T;T	0.04706	3.57;3.57	4.98	2.66	0.31614	.	0.717946	0.12028	N	0.506221	T	0.22781	0.0550	M	0.92604	3.325	0.09310	N	1	P;D;B	0.60160	0.71;0.987;0.275	P;P;B	0.62089	0.724;0.898;0.118	T	0.07693	-1.0759	10	0.87932	D	0	.	6.8206	0.23855	0.7275:0.0:0.2725:0.0	.	228;229;229	Q96F44-3;Q96F44-2;Q96F44	.;.;TRI11_HUMAN	N	229	ENSP00000284551:I229N;ENSP00000355660:I229N	ENSP00000284551:I229N	I	-	2	0	TRIM11	226655337	0.229000	0.23729	0.000000	0.03702	0.171000	0.22731	3.013000	0.49582	0.346000	0.23899	0.375000	0.23000	ATC		0.721	TRIM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095995.3	NM_145214		7	9	0	0	0	1	0	7	9				
PASK	23178	broad.mit.edu	37	2	242063411	242063411	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr2:242063411A>G	ENST00000405260.1	-	11	3555	c.2857T>C	c.(2857-2859)Tcc>Ccc	p.S953P	PASK_ENST00000544142.1_Missense_Mutation_p.S767P|PASK_ENST00000539818.1_Missense_Mutation_p.S737P|PASK_ENST00000358649.4_Missense_Mutation_p.S953P|PASK_ENST00000403638.3_Missense_Mutation_p.S953P|PASK_ENST00000234040.4_Missense_Mutation_p.S953P	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	953					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GAGTGGGTGGAGCCGGGCAGG	0.622																																						ENST00000403638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(2857-2859)Tcc>Ccc		PAS domain containing serine/threonine kinase							51.0	54.0	53.0					2																	242063411		2203	4300	6503	SO:0001583	missense	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242063411A>G	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.2857T>C	2.37:g.242063411A>G	ENSP00000384016:p.Ser953Pro					PASK_ENST00000405260.1_Missense_Mutation_p.S953P|PASK_ENST00000544142.1_Missense_Mutation_p.S767P|PASK_ENST00000539818.1_Missense_Mutation_p.S737P|PASK_ENST00000358649.4_Missense_Mutation_p.S953P|PASK_ENST00000234040.4_Missense_Mutation_p.S953P	p.S953P	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	11	2948	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	953					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	c.2857T>C	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	A	17.10	3.304231	0.60305	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638	T;T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.5;-0.53;0.31	4.87	4.87	0.63330	.	0.000000	0.52532	D	0.000074	T	0.81992	0.4940	M	0.72894	2.215	0.40169	D	0.977151	P;P;P;D;P	0.89917	0.881;0.928;0.928;1.0;0.881	P;P;P;D;P	0.85130	0.725;0.752;0.858;0.997;0.725	D	0.84590	0.0666	10	0.87932	D	0	.	12.0086	0.53274	1.0:0.0:0.0:0.0	.	918;767;953;953;953	B7Z7R6;F5GYW7;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;.;PASK_HUMAN	P	953;767;953;953;737;953	ENSP00000234040:S953P;ENSP00000441374:S767P;ENSP00000384016:S953P;ENSP00000351475:S953P;ENSP00000443083:S737P;ENSP00000384438:S953P	ENSP00000234040:S953P	S	-	1	0	PASK	241712084	1.000000	0.71417	0.759000	0.31340	0.304000	0.27724	5.104000	0.64584	1.819000	0.53055	0.454000	0.30748	TCC		0.622	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		3	43	0	0	0	1	0	3	43				
LMO7	4008	broad.mit.edu	37	13	76427339	76427339	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr13:76427339T>A	ENST00000321797.8	+	26	4498	c.3777T>A	c.(3775-3777)agT>agA	p.S1259R	LMO7_ENST00000465261.2_Missense_Mutation_p.S1259R|LMO7_ENST00000357063.3_Missense_Mutation_p.S1544R|LMO7_ENST00000377534.3_Missense_Mutation_p.S1544R|LMO7_ENST00000341547.4_Missense_Mutation_p.S1210R|LMO7_ENST00000526202.1_Missense_Mutation_p.S1136R			Q8WWI1	LMO7_HUMAN	LIM domain 7	1544					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AAGACTTTAGTCGCCCACCAC	0.567																																						ENST00000357063.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(4630-4632)agT>agA		LIM domain 7							80.0	69.0	73.0					13																	76427339		2203	4300	6503	SO:0001583	missense	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76427339T>A	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.3777T>A	13.37:g.76427339T>A	ENSP00000317802:p.Ser1259Arg					LMO7_ENST00000526202.1_Missense_Mutation_p.S1136R|LMO7_ENST00000321797.8_Missense_Mutation_p.S1259R|LMO7_ENST00000377534.3_Missense_Mutation_p.S1544R|LMO7_ENST00000465261.2_Missense_Mutation_p.S1259R|LMO7_ENST00000341547.4_Missense_Mutation_p.S1210R	p.S1544R			Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	29	5892	+		Breast(118;0.0992)	1544					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	37	c.4632T>A		.	.	.	.	.	.	.	.	.	.	T	18.45	3.626459	0.66901	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000321797;ENST00000526202;ENST00000465261	T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48	5.68	1.65	0.23941	.	0.000000	0.64402	D	0.000001	T	0.68035	0.2957	M	0.77103	2.36	0.44409	D	0.997321	D;D;D	0.69078	0.994;0.996;0.997	P;D;D	0.71656	0.832;0.919;0.974	T	0.68663	-0.5349	10	0.72032	D	0.01	-19.0922	9.9596	0.41688	0.0:0.3953:0.0:0.6047	.	1136;1210;1259	E9PMS6;Q8WWI1-3;E9PLH4	.;.;.	R	1210;1544;1544;1259;1136;1259	ENSP00000342112:S1210R;ENSP00000349571:S1544R;ENSP00000366757:S1544R;ENSP00000317802:S1259R;ENSP00000431129:S1136R;ENSP00000433352:S1259R	ENSP00000317802:S1259R	S	+	3	2	LMO7	75325340	0.998000	0.40836	0.998000	0.56505	0.540000	0.34992	0.209000	0.17435	0.339000	0.23719	0.528000	0.53228	AGT		0.567	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		19	28	0	0	0	1	0	19	28				
DRD5	1816	broad.mit.edu	37	4	9784098	9784098	+	Missense_Mutation	SNP	A	A	G	rs575640830	byFrequency	TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr4:9784098A>G	ENST00000304374.2	+	1	841	c.445A>G	c.(445-447)Aag>Gag	p.K149E		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	149					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.K149E(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CTTCCGCTACAAGCGCAAGAT	0.597													G|||	2	0.000399361	0.0015	0.0	5008	,	,		21344	0.0		0.0	False		,,,				2504	0.0					ENST00000304374.2																			1	Substitution - Missense(1)	p.K149E(1)	prostate(1)	NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(445-447)Aag>Gag		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						38.0	36.0	36.0					4																	9784098		2203	4300	6503	SO:0001583	missense	0				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784098A>G	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.445A>G	4.37:g.9784098A>G	ENSP00000306129:p.Lys149Glu						p.K149E	NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN			1	841	+			149					B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.445A>G	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	N	0.915	-0.717774	0.03182	.	.	ENSG00000169676	ENST00000304374	T	0.72282	-0.64	4.35	0.295	0.15752	GPCR, rhodopsin-like superfamily (1);	0.109106	0.64402	N	0.000008	T	0.28134	0.0694	N	0.00308	-1.67	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.42716	-0.9435	10	0.02654	T	1	.	11.2884	0.49234	0.0746:0.5299:0.3954:0.0	.	149	P21918	DRD5_HUMAN	E	149	ENSP00000306129:K149E	ENSP00000306129:K149E	K	+	1	0	DRD5	9393196	1.000000	0.71417	0.837000	0.33122	0.756000	0.42949	3.541000	0.53618	-0.488000	0.06726	-0.684000	0.03749	AAG		0.597	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			3	25	0	0	0	1	0	3	25				
HNRNPCL1	343069	broad.mit.edu	37	1	12907980	12907980	+	Missense_Mutation	SNP	C	C	T	rs374398056		TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr1:12907980C>T	ENST00000317869.6	-	2	388	c.163G>A	c.(163-165)Gtt>Att	p.V55I		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	55	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V55I(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TCATATTGAACGAAGGCAAAG	0.473																																						ENST00000317869.6																			1	Substitution - Missense(1)	p.V55I(1)	NS(1)	NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						c.(163-165)Gtt>Att		heterogeneous nuclear ribonucleoprotein C-like 1		C	ILE/VAL	4,4402	2.1+/-5.4	0,4,2199	76.0	76.0	76.0		163	1.1	0.3	1		76	1,8593	1.2+/-3.3	0,1,4296	no	missense	HNRNPCL1	NM_001013631.1	29	0,5,6495	TT,TC,CC		0.0116,0.0908,0.0385	possibly-damaging	55/294	12907980	5,12995	2203	4297	6500	SO:0001583	missense	343069							g.chr1:12907980C>T	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.163G>A	1.37:g.12907980C>T	ENSP00000365370:p.Val55Ile						p.V55I	NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1					2	388	-								B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.163G>A	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902710	0.33628	9.08E-4	1.16E-4	ENSG00000179172	ENST00000317869	T	0.32515	1.45	1.09	1.09	0.20402	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	U	0.000018	T	0.25344	0.0616	L	0.48174	1.505	0.49213	D	0.999764	B	0.25272	0.122	B	0.31191	0.125	T	0.09314	-1.0680	10	0.44086	T	0.13	.	8.1133	0.30928	0.0:1.0:0.0:0.0	.	55	O60812	HNRCL_HUMAN	I	55	ENSP00000365370:V55I	ENSP00000365370:V55I	V	-	1	0	HNRNPCL1	12830567	1.000000	0.71417	0.256000	0.24389	0.080000	0.17528	5.250000	0.65432	0.916000	0.36871	0.416000	0.27883	GTT		0.473	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		23	147	0	0	0	1	0	23	147				
BTN3A3	10384	broad.mit.edu	37	6	26448653	26448653	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr6:26448653C>A	ENST00000244519.2	+	6	1136	c.893C>A	c.(892-894)aCa>aAa	p.T298K	BTN3A3_ENST00000361232.3_Missense_Mutation_p.T256K|BTN3A3_ENST00000339789.4_Missense_Mutation_p.T256K	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	298					T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						TACGCTGCAACAGAGCAAGAA	0.498																																						ENST00000244519.2																			0				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(892-894)aCa>aAa		butyrophilin, subfamily 3, member A3							70.0	74.0	73.0					6																	26448653		2203	4300	6503	SO:0001583	missense	10384					integral to membrane		g.chr6:26448653C>A	U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.893C>A	6.37:g.26448653C>A	ENSP00000244519:p.Thr298Lys					BTN3A3_ENST00000339789.4_Missense_Mutation_p.T256K|BTN3A3_ENST00000361232.3_Missense_Mutation_p.T256K	p.T298K	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN			6	1136	+			298					B4DWI7|E9PCP5	Missense_Mutation	SNP	ENST00000244519.2	37	c.893C>A	CCDS4611.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.940972	0.00479	.	.	ENSG00000111801	ENST00000244519;ENST00000339789;ENST00000361232	T;T;T	0.36157	1.34;1.27;1.29	1.42	0.23	0.15372	.	.	.	.	.	T	0.03178	0.0093	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.42032	-0.9475	9	0.02654	T	1	.	2.6536	0.05005	0.4135:0.3696:0.2168:0.0	.	256;298	E9PCP5;O00478	.;BT3A3_HUMAN	K	298;256;256	ENSP00000244519:T298K;ENSP00000344968:T256K;ENSP00000355238:T256K	ENSP00000244519:T298K	T	+	2	0	BTN3A3	26556632	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.296000	0.08287	0.044000	0.15775	0.455000	0.32223	ACA		0.498	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040116.2	NM_006994		16	21	1	0	2.32078e-09	1	2.69211e-09	16	21				
PRB4	5545	broad.mit.edu	37	12	11461583	11461583	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr12:11461583C>G	ENST00000535904.1	-	3	367	c.334G>C	c.(334-336)Ggt>Cgt	p.G112R	PRB4_ENST00000279575.1_Missense_Mutation_p.G112R|PRB4_ENST00000445719.2_Splice_Site_p.G112R			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	133	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGTGGGGTACCTTGGGACTGG	0.607										HNSCC(22;0.051)																												ENST00000279575.1																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						c.(334-336)Ggt>Cgt		proline-rich protein BstNI subfamily 4							147.0	157.0	153.0					12																	11461583		2202	4299	6501	SO:0001583	missense	5545					extracellular region		g.chr12:11461583C>G		CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.334G>C	12.37:g.11461583C>G	ENSP00000442834:p.Gly112Arg	HNSCC(22;0.051)				PRB4_ENST00000445719.2_Splice_Site_p.G112_splice|PRB4_ENST00000535904.1_Missense_Mutation_p.G112R	p.G112R	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN			3	367	-			154			9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP	ENST00000535904.1	37	c.334G>C	CCDS8641.1	.	.	.	.	.	.	.	.	.	.	.	4.465	0.086165	0.08583	.	.	ENSG00000230657	ENST00000279575;ENST00000535904;ENST00000445719	T;T;T	0.07688	3.62;3.62;3.17	0.458	-0.917	0.10485	.	.	.	.	.	T	0.13670	0.0331	L	0.44542	1.39	0.09310	N	1	D	0.71674	0.998	P	0.61328	0.887	T	0.15492	-1.0435	8	0.49607	T	0.09	.	.	.	.	.	112	E9PAL0	.	R	112	ENSP00000279575:G112R;ENSP00000442834:G112R;ENSP00000412740:G112R	ENSP00000279575:G112R	G	-	1	0	PRB4	11352850	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.507000	0.00961	-0.639000	0.05502	0.197000	0.17608	GGT;GGT;GGA		0.607	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723		6	365	0	0	0	1	0	6	365				
MUC6	4588	broad.mit.edu	37	11	1017526	1017526	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr11:1017526G>C	ENST00000421673.2	-	31	5325	c.5275C>G	c.(5275-5277)Cct>Gct	p.P1759A		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1759	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTGACTTCAGGATGGTGTGTG	0.562																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(5275-5277)Cct>Gct		mucin 6, oligomeric mucus/gel-forming							783.0	742.0	756.0					11																	1017526		2200	4294	6494	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1017526G>C	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5275C>G	11.37:g.1017526G>C	ENSP00000406861:p.Pro1759Ala						p.P1759A	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	5325	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1759			Approximate repeats.|Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.5275C>G	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	-	2.822	-0.244678	0.05906	.	.	ENSG00000184956	ENST00000421673	T	0.19394	2.15	2.76	-0.819	0.10829	.	.	.	.	.	T	0.19366	0.0465	L	0.38175	1.15	0.09310	N	1	D	0.62365	0.991	P	0.62382	0.901	T	0.17776	-1.0358	9	0.02654	T	1	.	0.8768	0.01226	0.2384:0.1803:0.3975:0.1838	.	1759	Q6W4X9	MUC6_HUMAN	A	1759	ENSP00000406861:P1759A	ENSP00000406861:P1759A	P	-	1	0	MUC6	1007526	0.000000	0.05858	0.000000	0.03702	0.146000	0.21551	-0.370000	0.07523	-0.326000	0.08564	0.313000	0.20887	CCT		0.562	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		7	848	0	0	0	1	0	7	848				
AKR7L	246181	broad.mit.edu	37	1	19596156	19596156	+	RNA	SNP	G	G	T	rs6665756	byFrequency	TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr1:19596156G>T	ENST00000429712.1	-	0	644				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CCTGCCGGGTGGTGGCGCTGT	0.562													.|||	3335	0.665935	0.3986	0.7349	5008	,	,		17408	0.8016		0.6918	False		,,,				2504	0.8119					ENST00000420396.2																			0				breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6								aldo-keto reductase family 7-like		G		604,780		133,338,221	79.0	79.0	79.0			3.9	1.0	1	dbSNP_116	79	2111,1071		724,663,204	no	intergenic				857,1001,425	TT,TG,GG		33.6581,43.6416,40.5388			19596156	2715,1851	692	1591	2283			246181							g.chr1:19596156G>T			1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19596156G>T						AKR7L_ENST00000429712.1_RNA								0	507	-								Q5U614	RNA	SNP	ENST00000429712.1	37																																																																																						0.562	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		3	40	1	0	0.004672	1	0.00483886	3	40				
TPO	7173	broad.mit.edu	37	2	1497756	1497756	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr2:1497756C>T	ENST00000345913.4	+	11	2042	c.1951C>T	c.(1951-1953)Ccc>Tcc	p.P651S	TPO_ENST00000382198.1_Missense_Mutation_p.P478S|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000349624.3_Missense_Mutation_p.P478S|TPO_ENST00000346956.3_Missense_Mutation_p.P651S|TPO_ENST00000329066.4_Missense_Mutation_p.P651S|TPO_ENST00000382201.3_Missense_Mutation_p.P594S|TPO_ENST00000337415.3_Missense_Mutation_p.P651S	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	651					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TCGGACAGGGCCCCTGTTTGC	0.567																																						ENST00000345913.4																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(1951-1953)Ccc>Tcc		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						78.0	77.0	77.0					2																	1497756		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1497756C>T		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1951C>T	2.37:g.1497756C>T	ENSP00000318820:p.Pro651Ser					TPO_ENST00000382198.1_Missense_Mutation_p.P478S|TPO_ENST00000382201.3_Missense_Mutation_p.P594S|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000349624.3_Missense_Mutation_p.P478S|TPO_ENST00000346956.3_Missense_Mutation_p.P651S|TPO_ENST00000337415.3_Missense_Mutation_p.P651S|TPO_ENST00000329066.4_Missense_Mutation_p.P651S	p.P651S	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	11	2042	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	651					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.1951C>T	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395536	0.62066	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607	T;T;T;T;T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55	4.84	4.84	0.62591	.	0.047074	0.85682	D	0.000000	D	0.85427	0.5694	M	0.83312	2.635	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.995;0.995;0.995;0.997	D	0.86752	0.1961	10	0.51188	T	0.08	-43.013	18.3104	0.90197	0.0:1.0:0.0:0.0	.	651;478;594;651	P07202-4;P07202-5;P07202-2;P07202	.;.;.;PERT_HUMAN	S	651;651;651;478;651;594;478;580;125	ENSP00000337263:P651S;ENSP00000318820:P651S;ENSP00000263886:P651S;ENSP00000332044:P478S;ENSP00000329869:P651S;ENSP00000371636:P594S;ENSP00000371633:P478S;ENSP00000405788:P580S;ENSP00000419461:P125S	ENSP00000329869:P651S	P	+	1	0	TPO	1476763	0.998000	0.40836	0.417000	0.26559	0.168000	0.22595	5.360000	0.66086	2.399000	0.81585	0.561000	0.74099	CCC		0.567	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		16	26	0	0	0	1	0	16	26				
AHNAK2	113146	broad.mit.edu	37	14	105413628	105413628	+	Silent	SNP	G	G	A	rs373499038		TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr14:105413628G>A	ENST00000333244.5	-	7	8279	c.8160C>T	c.(8158-8160)caC>caT	p.H2720H	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2720						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTCGGGAACGTGGCCCTCTG	0.597																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(8158-8160)caC>caT		AHNAK nucleoprotein 2		G		1,3815		0,1,1907	122.0	134.0	130.0		8160	-5.9	0.0	14		130	0,8230		0,0,4115	no	coding-synonymous	AHNAK2	NM_138420.2		0,1,6022	AA,AG,GG		0.0,0.0262,0.0083		2720/5796	105413628	1,12045	1908	4115	6023	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105413628G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8160C>T	14.37:g.105413628G>A						AHNAK2_ENST00000557457.1_Intron	p.H2720H	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	8279	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2720					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.8160C>T	CCDS45177.1																																																																																				0.597	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		83	96	0	0	0	1	0	83	96				
ETV1	2115	broad.mit.edu	37	7	14028333	14028333	+	Intron	SNP	C	C	T			TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr7:14028333C>T	ENST00000430479.1	-	3	713				ETV1_ENST00000405218.2_Intron|ETV1_ENST00000405192.2_Intron|ETV1_ENST00000242066.5_Intron|ETV1_ENST00000420159.2_5'Flank|ETV1_ENST00000403527.1_5'Flank|ETV1_ENST00000399357.3_5'Flank|ETV1_ENST00000343495.5_Intron|ETV1_ENST00000405358.4_Missense_Mutation_p.G20E|ETV1_ENST00000403685.1_Intron	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1						axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GCAGACAAACCCAGCCAAAAA	0.388			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																	ENST00000405358.4				Dom	yes		7	7p22	2115	T	ets variant gene 1			"""M, E"""	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""		"""Ewing sarcoma, prostate"""	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(58-60)gGg>gAg		ets variant 1							179.0	167.0	170.0					7																	14028333		876	1991	2867	SO:0001627	intron_variant	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:14028333C>T		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.45+299G>A	7.37:g.14028333C>T						ETV1_ENST00000430479.1_Intron|ETV1_ENST00000343495.5_Intron|ETV1_ENST00000403685.1_Intron|ETV1_ENST00000405218.2_Intron|ETV1_ENST00000405192.2_Intron|ETV1_ENST00000242066.5_Intron	p.G20E			P50549	ETV1_HUMAN			1	165	-			0					A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	ENST00000430479.1	37	c.59G>A	CCDS55088.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.761724	0.49468	.	.	ENSG00000006468	ENST00000405358	T	0.11277	2.79	5.24	5.24	0.73138	.	.	.	.	.	T	0.17238	0.0414	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.00333	-1.1810	6	0.36615	T	0.2	.	9.4891	0.38948	0.2177:0.6484:0.1339:0.0	.	.	.	.	E	20	ENSP00000384085:G20E	ENSP00000384085:G20E	G	-	2	0	ETV1	13994858	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.609000	0.36858	2.831000	0.97527	0.650000	0.86243	GGG		0.388	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		37	68	0	0	0	1	0	37	68				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		16	31	0	0	0	1	0	16	31				
ECEL1	9427	broad.mit.edu	37	2	233347145	233347145	+	Silent	SNP	G	G	A	rs552489480	byFrequency	TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr2:233347145G>A	ENST00000304546.1	-	12	1989	c.1779C>T	c.(1777-1779)taC>taT	p.Y593Y	ECEL1_ENST00000409941.1_Silent_p.Y591Y	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	593					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		AGTCAGGGTCGTACAGGGTGG	0.617													G|||	3	0.000599042	0.0	0.0	5008	,	,		18486	0.0		0.0	False		,,,				2504	0.0031					ENST00000304546.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1777-1779)taC>taT		endothelin converting enzyme-like 1							136.0	136.0	136.0					2																	233347145		2203	4300	6503	SO:0001819	synonymous_variant	9427				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity	g.chr2:233347145G>A	Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"""damage induced neuronal endopeptidase"""	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.1779C>T	2.37:g.233347145G>A						ECEL1_ENST00000409941.1_Silent_p.Y591Y	p.Y593Y	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)	12	1989	-		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	593					Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Silent	SNP	ENST00000304546.1	37	c.1779C>T	CCDS2493.1																																																																																				0.617	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826		48	77	0	0	0	1	0	48	77				
CYP2D7	1564	broad.mit.edu	37	22	42538870	42538870	+	RNA	SNP	A	A	C	rs2982057	byFrequency	TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr22:42538870A>C	ENST00000428786.1	-	0	0				CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000433992.1_RNA																							CCATAGCGCGACAGGAACACC	0.687													N|||	80	0.0159744	0.0023	0.0317	5008	,	,		11900	0.0109		0.0348	False		,,,				2504	0.0092					ENST00000433992.1																			0				endometrium(1)	1																																														0							g.chr22:42538870A>C																													22.37:g.42538870A>C						CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000424775.1_RNA								0	475	-									RNA	SNP	ENST00000428786.1	37			30	0.013736263736263736	1	0.0020325203252032522	5	0.013812154696132596	5	0.008741258741258742	19	0.025065963060686015	C	8.846	0.943329	0.18281	.	.	ENSG00000205702	ENST00000428297;ENST00000381321;ENST00000436260	.	.	.	3.26	3.26	0.37387	.	.	.	.	.	T	0.04724	0.0128	.	.	.	0.28613	N	0.908552	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.23154	-1.0196	7	0.02654	T	1	.	8.0614	0.30635	0.2422:0.7578:0.0:0.0	rs2982057	122;32	Q6XP50;F5H167	.;.	A	121;71;32	.	ENSP00000446103:S71A	S	-	1	0	CYP2D7P1	40868814	0.299000	0.24426	0.017000	0.16124	0.002000	0.02628	0.565000	0.23578	0.961000	0.38030	-0.290000	0.09829	TCG		0.687	RP4-669P10.16-001	KNOWN	basic|exp_conf	sense_intronic	sense_intronic	OTTHUMT00000320534.1			4	27	0	0	0	1	0	4	27				
RASSF8	11228	broad.mit.edu	37	12	26220530	26220530	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr12:26220530C>G	ENST00000405154.2	+	4	1221	c.1022C>G	c.(1021-1023)aCt>aGt	p.T341S	RASSF8_ENST00000282884.9_Missense_Mutation_p.T341S|RASSF8_ENST00000541490.1_Missense_Mutation_p.T341S|RASSF8_ENST00000381352.3_Missense_Mutation_p.T341S|RASSF8_ENST00000542865.1_Missense_Mutation_p.T341S	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	341					signal transduction (GO:0007165)					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					GAGCAGTTGACTAAGGAGTTG	0.433																																						ENST00000405154.2																			0				cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25						c.(1021-1023)aCt>aGt		Ras association (RalGDS/AF-6) domain family (N-terminal) member 8							83.0	77.0	79.0					12																	26220530		2203	4300	6503	SO:0001583	missense	11228				signal transduction			g.chr12:26220530C>G	U82396	CCDS8705.1, CCDS53765.1	12p12.3	2013-05-30	2008-02-22	2005-09-14	ENSG00000123094	ENSG00000123094			13232	protein-coding gene	gene with protein product		608231	"""chromosome 12 open reading frame 2"""	C12orf2			Standard	NM_007211		Approved	HoJ-1	uc001rgx.3	Q8NHQ8	OTTHUMG00000169087	ENST00000405154.2:c.1022C>G	12.37:g.26220530C>G	ENSP00000384491:p.Thr341Ser					RASSF8_ENST00000282884.9_Missense_Mutation_p.T341S|RASSF8_ENST00000542865.1_Missense_Mutation_p.T341S|RASSF8_ENST00000541490.1_Missense_Mutation_p.T341S|RASSF8_ENST00000381352.3_Missense_Mutation_p.T341S	p.T341S	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN			4	1221	+	Colorectal(261;0.0847)		341					A8K1Z0|O95647|Q5SCI2|Q76KB6	Missense_Mutation	SNP	ENST00000405154.2	37	c.1022C>G	CCDS53765.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854231	0.91355	.	.	ENSG00000123094	ENST00000381352;ENST00000405154;ENST00000542865;ENST00000541490;ENST00000282884	D;D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96;-2.96	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.94159	0.8126	L	0.53249	1.67	0.58432	D	0.999998	D;D	0.76494	0.999;0.996	D;P	0.69142	0.962;0.883	D	0.90334	0.4354	10	0.09590	T	0.72	-15.8747	19.2124	0.93763	0.0:1.0:0.0:0.0	.	341;341	Q8NHQ8-2;Q8NHQ8	.;RASF8_HUMAN	S	341	ENSP00000370756:T341S;ENSP00000384491:T341S;ENSP00000439839:T341S;ENSP00000443096:T341S;ENSP00000282884:T341S	ENSP00000282884:T341S	T	+	2	0	RASSF8	26111797	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	7.427000	0.80284	2.861000	0.98227	0.655000	0.94253	ACT		0.433	RASSF8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402209.2	NM_007211		3	34	0	0	0	1	0	3	34				
PCNT	5116	broad.mit.edu	37	21	47805846	47805846	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr21:47805846G>A	ENST00000359568.5	+	17	3519	c.3412G>A	c.(3412-3414)Gca>Aca	p.A1138T	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1138					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCGGGAAGGCGCAAACCTCCT	0.612																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(3412-3414)Gca>Aca		pericentrin							149.0	117.0	128.0					21																	47805846		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47805846G>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.3412G>A	21.37:g.47805846G>A	ENSP00000352572:p.Ala1138Thr					PCNT_ENST00000480896.1_3'UTR	p.A1138T	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			17	3519	+	Breast(49;0.112)		1138					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.3412G>A	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.411552	0.01145	.	.	ENSG00000160299	ENST00000359568	T	0.01446	4.88	5.27	-0.65	0.11457	.	1.574380	0.04418	N	0.367135	T	0.00998	0.0033	N	0.03050	-0.425	0.09310	N	1	B;B	0.18310	0.027;0.0	B;B	0.12156	0.007;0.004	T	0.45934	-0.9227	10	0.09590	T	0.72	.	8.4542	0.32888	0.5076:0.0:0.4924:0.0	.	1020;1138	O95613-2;O95613	.;PCNT_HUMAN	T	1138	ENSP00000352572:A1138T	ENSP00000352572:A1138T	A	+	1	0	PCNT	46630274	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.018000	0.12568	-0.050000	0.13356	0.585000	0.79938	GCA		0.612	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		5	97	0	0	0	1	0	5	97				
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr4:71346978T>C	ENST00000304887.5	+	3	707	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000413702.1_Missense_Mutation_p.S173P	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	173	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.S173P(3)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.522																																						ENST00000413702.1																			3	Substitution - Missense(3)	p.S173P(3)	lung(2)|kidney(1)	central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(517-519)Tct>Cct		mucin 7, secreted							341.0	284.0	303.0					4																	71346978		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71346978T>C	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.517T>C	4.37:g.71346978T>C	ENSP00000302021:p.Ser173Pro					MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR	p.S173P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	805	+			173			Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.517T>C	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	T	8.294	0.818323	0.16607	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.52754	0.65;0.65;0.65	2.59	-1.83	0.07833	.	.	.	.	.	T	0.22360	0.0539	N	0.12182	0.205	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.19451	-1.0305	8	.	.	.	-1.8981	3.858	0.08984	0.0:0.2646:0.3931:0.3423	.	173	Q8TAX7	MUC7_HUMAN	P	173	ENSP00000407422:S173P;ENSP00000400585:S173P;ENSP00000302021:S173P	.	S	+	1	0	MUC7	71381567	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.097000	0.01348	-0.350000	0.08262	-0.605000	0.04089	TCT		0.522	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		7	154	0	0	0	1	0	7	154				
MACF1	23499	broad.mit.edu	37	1	39799059	39799060	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr1:39799059_39799060insG	ENST00000372915.3	+	36	6901_6902	c.6814_6815insG	c.(6814-6816)aggfs	p.R2272fs	MACF1_ENST00000476350.1_Intron|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.R2304fs|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Frame_Shift_Ins_p.R2267fs|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Frame_Shift_Ins_p.R707fs|MACF1_ENST00000539005.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2272					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGATAGTGGCAGGGAAATTTTT	0.391																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(6799-6801)ggafs		microtubule-actin crosslinking factor 1																																				SO:0001589	frameshift_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39799059_39799060insG	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.6817dupG	1.37:g.39799062_39799062dupG	ENSP00000362006:p.Arg2272fs					MACF1_ENST00000476350.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.G2304fs|MACF1_ENST00000372915.3_Frame_Shift_Ins_p.G2272fs|MACF1_ENST00000289893.4_Frame_Shift_Ins_p.G707fs|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron	p.G2267fs			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	7576_7577	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2272					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Frame_Shift_Ins	INS	ENST00000372915.3	37	c.6799_6800insG																																																																																					0.391	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		12	82						12	82	---	---	---	---
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	GACGGG	-	rs112040677	byFrequency	TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr2:131129929_131129934delGACGGG	ENST00000175756.5	+	13	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)cagacgggg>cag	p.TG378del	PTPN18_ENST00000347849.3_In_Frame_Del_p.TG271del	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	378				Missing (in Ref. 1; CAA56105). {ECO:0000305}.	peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.T378_G379delTG(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					gtgggacgcagacggggacggggacg	0.777														1724	0.344249	0.6324	0.2349	5008	,	,		12983	0.3214		0.2008	False		,,,				2504	0.2035					ENST00000175756.5																			1	Deletion - In frame(1)	p.T378_G379delTG(1)	prostate(1)	endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15						c.(1111-1119)cag>ca		protein tyrosine phosphatase, non-receptor type 18 (brain-derived)			,	1068,966		446,176,395					,	-3.8	0.0		dbSNP_132	3	951,4205		280,391,1907	no	coding,coding	PTPN18	NM_014369.3,NM_001142370.1	,	726,567,2302	A1A1,A1R,RR		18.4445,47.4926,28.0807	,	,		2019,5171				SO:0001651	inframe_deletion	26469					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	g.chr2:131129929_131129934delGACGGG	X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.1113_1118delGACGGG	2.37:g.131129935_131129940delGACGGG	ENSP00000175756:p.Thr378_Gly379del					PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del	p.QTG371del	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN			13	1214_1219	+	Colorectal(110;0.1)		371					B4E1E6|Q53P42	In_Frame_Del	DEL	ENST00000175756.5	37	c.1113_1118delGACGGG	CCDS2161.1																																																																																				0.777	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2			6	11						6	11	---	---	---	---
FBXL8	55336	broad.mit.edu	37	16	67196927	67196929	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr16:67196927_67196929delGCC	ENST00000258200.3	+	3	506_508	c.329_331delGCC	c.(328-333)tgccgc>tgc	p.R111del	TRADD_ENST00000345057.4_5'Flank|HSF4_ENST00000264009.8_5'Flank|HSF4_ENST00000521374.1_5'Flank|HSF4_ENST00000584272.1_5'Flank|FBXL8_ENST00000519917.1_In_Frame_Del_p.R111del|HSF4_ENST00000421453.1_5'Flank|RP11-5A19.5_ENST00000518227.1_5'Flank			Q96CD0	FBXL8_HUMAN	F-box and leucine-rich repeat protein 8	111										endometrium(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185)		CGCCTGGAGTGCCGCGGAGAAAA	0.714																																						ENST00000258200.3																			0				endometrium(1)	1						c.(328-333)tgc>t		F-box and leucine-rich repeat protein 8																																				SO:0001651	inframe_deletion	55336						protein binding	g.chr16:67196927_67196929delGCC	AK002140	CCDS10831.1	16q22.1-q22.3	2013-01-22			ENSG00000135722	ENSG00000135722		"""F-boxes / Leucine-rich repeats"""	17875	protein-coding gene	gene with protein product		609077					Standard	NM_018378		Approved	Fbl8	uc002erk.1	Q96CD0	OTTHUMG00000137514	ENST00000258200.3:c.329_331delGCC	16.37:g.67196927_67196929delGCC	ENSP00000258200:p.Arg111del					FBXL8_ENST00000519917.1_In_Frame_Del_p.CR110del	p.CR110del			Q96CD0	FBXL8_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185)	3	506_508	+		Ovarian(137;0.0563)	110					Q9NUM0	In_Frame_Del	DEL	ENST00000258200.3	37	c.329_331delGCC	CCDS10831.1																																																																																				0.714	FBXL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268834.2			2	4						2	4	---	---	---	---
LOC146880	146880	broad.mit.edu	37	17	62775108	62775108	+	RNA	DEL	C	C	-			TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr17:62775108delC	ENST00000400873.3	-	0	1019					NR_026899.1																						CCACGCGGCGCCCGTCCTTGC	0.701																																						ENST00000400873.3																			0																																																			0							g.chr17:62775108delC																													17.37:g.62775108delC								NR_026899.1						0	1019	-									RNA	DEL	ENST00000400873.3	37																																																																																						0.701	hsa-mir-6080.1-201	KNOWN	basic	processed_transcript	processed_transcript				2	4						2	4	---	---	---	---
CBR3	874	broad.mit.edu	37	21	37505260	37505260	+	5'Flank	DEL	A	A	-			TCGA-EM-A4FN-01A-11D-A257-08	TCGA-EM-A4FN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add94e55-aefe-4e63-8a5e-142dd824f46d	0c74daf3-b58e-40e5-8058-030dbe42c407	g.chr21:37505260delA	ENST00000290354.5	+	0	0				CBR3-AS1_ENST00000608622.1_RNA|CBR3-AS1_ENST00000608690.1_RNA|CBR3-AS1_ENST00000453159.1_RNA|CBR3-AS1_ENST00000608632.1_RNA|CBR3-AS1_ENST00000608641.1_RNA|CBR3-AS1_ENST00000413862.1_RNA	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN	carbonyl reductase 3						cognition (GO:0050890)|phylloquinone catabolic process (GO:0042376)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	3-keto sterol reductase activity (GO:0000253)|carbonyl reductase (NADPH) activity (GO:0004090)|NADPH binding (GO:0070402)			kidney(1)|large_intestine(1)|lung(1)	3					Doxorubicin(DB00997)	AACCCCAGCCACGTGAAGAGG	0.577																																						ENST00000413862.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr21:37505260delA	AB004854	CCDS13642.1	21q22.2	2011-09-14			ENSG00000159231	ENSG00000159231	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	1549	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 21C, member 2"""	603608				9740676, 19027726	Standard	NM_001236		Approved	SDR21C2	uc002yve.3	O75828	OTTHUMG00000086617		21.37:g.37505260delA	Exception_encountered					CBR3-AS1_ENST00000453159.1_RNA		NR_038892.1						0	366	-								Q6FHP2	RNA	DEL	ENST00000290354.5	37		CCDS13642.1																																																																																				0.577	CBR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194632.1			2	4						2	4	---	---	---	---
