#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_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_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_Description	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_AccessionNumbers	i_HGNC_CCDS IDs	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_Genefamilydescription	i_HGNC_HGNC ID	i_HGNC_HGNCID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_Name Synonyms	i_HGNC_NameSynonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_PubmedIDs	i_HGNC_Record Type	i_HGNC_RecordType	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGA IDs	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	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_Region	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_init_n_lod	i_init_t_lod	i_n_alt_count	i_n_alt_count_full	i_n_ref_count	i_n_ref_count_full	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_lod_fstar	i_t_lod_fstar_full	i_t_ref_count_full	i_tumor_f_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	tumor_f
C12orf71	728858	broad.mit.edu	37	12	27234201	27234201	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	g.chr12:27234201T>C	ENST00000429849.2	-	2	746	c.716A>G	c.(715-717)aAa>aGa	p.K239R		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	239										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						ATGGGGACTTTTGGTGGCATT	0.527																																						ENST00000429849.2											0			endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						c.(715-717)aAa>aGa	chromosome 12 open reading frame 71						89.0	87.0	88.0					12																	27234201		2071	4223	6294	SO:0001583	missense	728858						g.chr12:27234201T>C			CCDS44851.1	CCDS44851.1	12p11.23	2008-07-25			2008-07-25			ENSG00000214700	ENSG00000214700	ENSG00000214700	ENSG00000214700				34452	34452	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001080406	NM_001080406		Approved	LOC728858	uc001rhq.3	uc001rhq.3	A8MTZ7	A8MTZ7	OTTHUMG00000169274	OTTHUMG00000169274	ENST00000429849.2:c.716A>G	12.37:g.27234201T>C	ENSP00000413728:p.Lys239Arg			p.K239R	NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN			2	746	-			239			Missense_Mutation	SNP	ENST00000429849.2	37	c.716A>G	CCDS44851.1	.	.	.	.	.	.	.	.	.	.	T	8.050	0.765710	0.15983	.	.	ENSG00000214700	ENST00000398815;ENST00000429849	T	0.47528	0.84	2.66	-1.61	0.08399	2.66	-1.61	0.08399	.	1.809800	0.03977	U	0.292675	T	0.26846	0.0657	N	0.19112	0.55	0.09310	N	1	B	0.32010	0.351	B	0.29077	0.098	T	0.06752	-1.0809	10	0.20519	T	0.43	1.586	2.3828	0.04358	0.4304:0.1419:0.0:0.4277	.	239	A8MTZ7	CL071_HUMAN	R	271;239	ENSP00000413728:K239R	ENSP00000381796:K271R	K	-	2	0	0	C12orf71	27125468	27125468	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.318000	0.08050	-0.333000	0.08476	0.334000	0.21626	AAA		0.527	C12orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403258.1		90.163605	-9	-9	52	52	NM_001080406		29	90.612309	90.612309	41	0.414286	0	0	0	1	0	29	41	0.414286
MRAS	22808	ucsc.edu	37	3	138116204	138116204	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	g.chr3:138116204C>T	ENST00000289104.4	+	3	879	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W	MRAS_ENST00000423968.2_Missense_Mutation_p.R78W|MRAS_ENST00000474559.1_Missense_Mutation_p.R78W|MRAS_ENST00000464896.1_Missense_Mutation_p.R2W	NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4	NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3	O14807	RASM_HUMAN	muscle RAS oncogene homolog	78					actin cytoskeleton organization (GO:0030036)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|Ras protein signal transduction (GO:0007265)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)			kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						CAGCGCCATGCGGGAGCAATA	0.612																																																	0																	85.0	63.0	70.0					3																	138116204		2203	4300	6503	SO:0001583	missense	22808							AF022080	AF022080	CCDS3100.1, CCDS58855.1	CCDS3100.1, CCDS58855.1	3q22.3	2014-05-09			2014-05-09			ENSG00000158186	ENSG00000158186	ENSG00000158186	ENSG00000158186				7227	7227	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608435	608435						9400994, 10446149	9400994, 10446149	Standard	Standard	NM_012219	NM_012219		Approved	M-RAs, R-RAS3, RRAS3	uc003esi.4	uc003esi.4	O14807	O14807	OTTHUMG00000159888	OTTHUMG00000159888	ENST00000289104.4:c.232C>T	3.37:g.138116204C>T	ENSP00000289104:p.Arg78Trp																	B4DIK0|Q86WX8	Missense_Mutation	SNP	ENST00000289104.4	37		CCDS3100.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065591	0.76187	.	.	ENSG00000158186	ENST00000289104;ENST00000423968;ENST00000494949;ENST00000464896;ENST00000474559	T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31	5.25	3.24	0.37175	5.25	3.24	0.37175	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.91513	0.7320	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92352	0.5890	10	0.87932	D	0	.	10.4369	0.44441	0.5334:0.4666:0.0:0.0	.	78	O14807	RASM_HUMAN	W	78;78;2;2;78	ENSP00000289104:R78W;ENSP00000389682:R78W;ENSP00000417685:R2W;ENSP00000419582:R2W;ENSP00000418356:R78W	ENSP00000289104:R78W	R	+	1	2	2	MRAS	139598894	139598894	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.287000	0.43505	1.189000	0.43028	-0.314000	0.08810	CGG		0.612	MRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357990.1			-30	-30	24	24			4			26							4	26	
FAM81B	153643	broad.mit.edu	37	5	94764367	94764367	+	Silent	SNP	G	G	A			TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	g.chr5:94764367G>A	ENST00000283357.5	+	6	763	c.717G>A	c.(715-717)cgG>cgA	p.R239R		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	239			R -> Q (in dbSNP:rs1541797).			nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		AAGAGCACCGGCAAATTGAGA	0.413																																						ENST00000283357.5											0			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(715-717)cgG>cgA	family with sequence similarity 81, member B						130.0	120.0	123.0					5																	94764367		1855	4095	5950	SO:0001819	synonymous_variant	153643						g.chr5:94764367G>A			CCDS43341.1	CCDS43341.1	5q15	2008-02-05			2008-02-05			ENSG00000153347	ENSG00000153347	ENSG00000153347	ENSG00000153347				26335	26335	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_152548	NM_152548		Approved	FLJ25333	uc003kla.1	uc003kla.1	Q96LP2	Q96LP2	OTTHUMG00000162837	OTTHUMG00000162837	ENST00000283357.5:c.717G>A	5.37:g.94764367G>A				p.R239R	NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN		all cancers(79;1.04e-16)	6	763	+		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)	239			Silent	SNP	ENST00000283357.5	37	c.717G>A	CCDS43341.1																																																																																									0.413	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370690.1		-29.633566	-57	-57	101	101	NM_152548		4	7.219918	7.219918	145	0.026846	0	0	0	1	0	4	145	0.026846
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR|AC005262.2_ENST00000585980.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104.0	89.0	94.0					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"""hypocalciuric hypercalcemia 2"""	HHC2	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		80.349494	-26	-26	55	55	NM_002067		26	80.349494	80.349494	26	0.500000	0	0	0	1	0	26	26	0.5
BAP1	8314	broad.mit.edu	37	3	52440383	52440383	+	Nonsense_Mutation	SNP	G	G	C			TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	g.chr3:52440383G>C	ENST00000460680.1	-	9	1140	c.669C>G	c.(667-669)taC>taG	p.Y223*	BAP1_ENST00000296288.5_Intron	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GGATGTCGTGGTAGGGCTCCC	0.627			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	0			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(667-669)taC>taG	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)						74.0	59.0	64.0					3																	52440383		2203	4300	6503	SO:0001587	stop_gained	8314			monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52440383G>C	AF045581	AF045581	CCDS2853.1	CCDS2853.1	3p21.31-p21.2	2014-09-17			2014-09-17			ENSG00000163930	ENSG00000163930	ENSG00000163930	ENSG00000163930				950	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603089	603089						9528852	9528852	Standard	Standard	NM_004656	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	uc003ddx.4	Q92560	Q92560	OTTHUMG00000158392	OTTHUMG00000158392	ENST00000460680.1:c.669C>G	3.37:g.52440383G>C	ENSP00000417132:p.Tyr223*		BAP1_ENST00000296288.5_Intron	p.Y223*	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	9	1140	-			223		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Nonsense_Mutation	SNP	ENST00000460680.1	37	c.669C>G	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	G	39	7.895614	0.98548	.	.	ENSG00000163930	ENST00000460680	.	.	.	6.04	4.01	0.46588	6.04	4.01	0.46588	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.643	8.0278	0.30446	0.3157:0.0:0.6843:0.0	.	.	.	.	X	223	.	ENSP00000417132:Y223X	Y	-	3	2	2	BAP1	52415423	52415423	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.222000	0.58580	1.539000	0.49286	0.650000	0.86243	TAC		0.627	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1		103.721474	-17	-17	35	35			29	105.598191	105.598191	1	0.966667	0	0	0	1	0	29	1	0.966667
USP25	29761	broad.mit.edu	37	21	17203904	17203904	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	g.chr21:17203904A>G	ENST00000285679.6	+	16	2318	c.1949A>G	c.(1948-1950)tAc>tGc	p.Y650C	USP25_ENST00000351097.5_Intron|USP25_ENST00000400183.2_Missense_Mutation_p.Y650C|USP25_ENST00000285681.2_Missense_Mutation_p.Y650C	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	650	USP.				cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GCCAGTGCATACTGTTTAATG	0.363																																						ENST00000285681.2											0			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52						c.(1948-1950)tAc>tGc	ubiquitin specific peptidase 25						123.0	117.0	119.0					21																	17203904		2203	4300	6503	SO:0001583	missense	29761			protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr21:17203904A>G	AF170562	AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313	ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	"""Ubiquitin-specific peptidases"""	12624	12624	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604736	604736	"""ubiquitin specific protease 25"""		"""ubiquitin specific protease 25"""			12838346, 10612803	12838346, 10612803	Standard	Standard	NM_013396	NM_013396		Approved	USP21	uc002yjy.1	uc002yjy.1	Q9UHP3	Q9UHP3	OTTHUMG00000074343	OTTHUMG00000074343	ENST00000285679.6:c.1949A>G	21.37:g.17203904A>G	ENSP00000285679:p.Tyr650Cys		USP25_ENST00000285679.6_Missense_Mutation_p.Y650C|USP25_ENST00000400183.2_Missense_Mutation_p.Y650C|USP25_ENST00000351097.5_Intron	p.Y650C	NM_001283042.1	NP_001269971.1	Q9UHP3	UBP25_HUMAN		Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)	16	2318	+			650		C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	ENST00000285679.6	37	c.1949A>G	CCDS33515.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.6|21.6	4.172617|4.172617	0.78452|0.78452	.|.	.|.	ENSG00000155313|ENSG00000155313	ENST00000453553|ENST00000285681;ENST00000285679;ENST00000400183	.|D;D;D	.|0.87650	.|-2.28;-2.28;-2.28	5.11|5.11	5.11|5.11	0.69529|0.69529	5.11|5.11	5.11|5.11	0.69529|0.69529	.|Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94902|0.94902	0.8352|0.8352	M|M	0.93062|0.93062	3.375|3.375	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;0.998	D|D	0.96052|0.96052	0.9032|0.9032	5|10	.|0.87932	.|D	.|0	.|.	15.6093|15.6093	0.76704|0.76704	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|650;650;650	.|Q9UHP3-3;Q9UHP3-1;Q9UHP3	.|.;.;UBP25_HUMAN	A|C	179|650	.|ENSP00000285681:Y650C;ENSP00000285679:Y650C;ENSP00000383044:Y650C	.|ENSP00000285679:Y650C	T|Y	+|+	1|2	0|0	0|0	USP25|USP25	16125775|16125775	16125775|16125775	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.986000|0.986000	0.74619|0.74619	8.848000|8.848000	0.92172|0.92172	2.226000|2.226000	0.72624|0.72624	0.482000|0.482000	0.46254|0.46254	ACT|TAC		0.363	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1		-8.332284	-2	-2	39	39			3	6.794042	6.794042	65	0.044118	0	0	0	1	0	3	65	0.044118
GOLGB1	2804	broad.mit.edu	37	3	121438591	121438591	+	Silent	SNP	G	G	T			TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	g.chr3:121438591G>T	ENST00000340645.5	-	7	783	c.658C>A	c.(658-660)Cga>Aga	p.R220R	GOLGB1_ENST00000393667.3_Silent_p.R225R	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	220					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCTTTCTCTCGGACCACCTGC	0.438																																						ENST00000393667.3											0			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(673-675)Cga>Aga	golgin B1						126.0	110.0	115.0					3																	121438591		2203	4300	6503	SO:0001819	synonymous_variant	2804			Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121438591G>T	X75304	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230	ENSG00000173230	ENSG00000173230				4429	4429	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""		"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	7691276, 15004235	Standard	Standard	NM_001256486	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	uc010hrc.4	Q14789	Q14789	OTTHUMG00000159411	OTTHUMG00000159411	ENST00000340645.5:c.658C>A	3.37:g.121438591G>T			GOLGB1_ENST00000340645.5_Silent_p.R220R	p.R225R	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	7	783	-			220		B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	ENST00000340645.5	37	c.673C>A	CCDS3004.1																																																																																									0.438	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1		-0.407011	-11	-11	48	48	NM_004487		3	7.005743	7.005743	37	0.075000	1	0	1	1	1	3	37	0.075
ALOX5	240	broad.mit.edu	37	10	45941026	45941026	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	g.chr10:45941026G>A	ENST00000374391.2	+	14	1969	c.1916G>A	c.(1915-1917)cGc>cAc	p.R639H	RP11-67C2.2_ENST00000435635.1_RNA|ALOX5_ENST00000542434.1_Missense_Mutation_p.R582H	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	639	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	GCCCGATTCCGCAAGAACCTC	0.532																																						ENST00000374391.2											0			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(1915-1917)cGc>cAc	arachidonate 5-lipoxygenase						99.0	94.0	96.0					10																	45941026		2203	4300	6503	SO:0001583	missense	240			hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr10:45941026G>A	J03571	J03571	CCDS7212.1, CCDS58078.1	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			2008-03-18			ENSG00000012779	ENSG00000012779	ENSG00000012779	ENSG00000012779	1.13.11.34	"""Arachidonate lipoxygenases"""	"""Arachidonate lipoxygenases"""	435	435	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			152390	152390						2565035	2565035	Standard	Standard	NM_001256153	NM_001256153		Approved	5-LOX	uc001jce.4	uc001jce.4	P09917	P09917	OTTHUMG00000018081	OTTHUMG00000018081	ENST00000374391.2:c.1916G>A	10.37:g.45941026G>A	ENSP00000363512:p.Arg639His		RP11-67C2.2_ENST00000435635.1_RNA|ALOX5_ENST00000542434.1_Missense_Mutation_p.R582H	p.R639H	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN			14	1969	+		Lung SC(717;0.0257)	639	Lipoxygenase.	B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Missense_Mutation	SNP	ENST00000374391.2	37	c.1916G>A	CCDS7212.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.976004	0.53720	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	D;D	0.90444	-2.67;-2.67	5.14	4.24	0.50183	5.14	4.24	0.50183	Lipoxygenase, C-terminal (3);	0.152591	0.64402	N	0.000015	D	0.89543	0.6745	M	0.81179	2.53	0.27278	N	0.958182	P;B;B	0.39862	0.692;0.068;0.043	B;B;B	0.36134	0.218;0.049;0.027	D	0.85291	0.1067	10	0.59425	D	0.04	-26.8399	11.8919	0.52635	0.085:0.0:0.915:0.0	.	582;607;639	B7ZLS0;E5FPY8;P09917	.;.;LOX5_HUMAN	H	582;639	ENSP00000437634:R582H;ENSP00000363512:R639H	ENSP00000363512:R639H	R	+	2	0	0	ALOX5	45261032	45261032	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	6.597000	0.74118	1.537000	0.49254	0.655000	0.94253	CGC		0.532	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1		-17.088976	-14	-14	75	75			4	7.420229	7.420229	102	0.037736	0	0	0	1	0	4	102	0.037736
MYOF	26509	broad.mit.edu	37	10	95168603	95168603	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	g.chr10:95168603C>T	ENST00000359263.4	-	7	669	c.670G>A	c.(670-672)Gtc>Atc	p.V224I	MYOF_ENST00000371502.4_Missense_Mutation_p.V224I|MYOF_ENST00000371501.4_Missense_Mutation_p.V224I|MYOF_ENST00000358334.5_Missense_Mutation_p.V224I|MYOF_ENST00000371489.1_Missense_Mutation_p.V224I	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	224	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Necessary for interaction with EHD2.				blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGGCCACAGACGTGAACTTTG	0.502																																						ENST00000371501.4											0			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(670-672)Gtc>Atc	myoferlin						146.0	135.0	138.0					10																	95168603		1961	4148	6109	SO:0001583	missense	26509			blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95168603C>T	AB033033	AB033033	CCDS41550.1, CCDS41551.1	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119	ENSG00000138119	ENSG00000138119				3656	3656	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	"""fer-1-like family member 3"""	604603	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	10607832, 10995573, 17702744	Standard	Standard	NM_013451	NM_013451		Approved	KIAA1207	uc001kin.3	uc001kin.3	Q9NZM1	Q9NZM1	OTTHUMG00000018772	OTTHUMG00000018772	ENST00000359263.4:c.670G>A	10.37:g.95168603C>T	ENSP00000352208:p.Val224Ile		MYOF_ENST00000359263.4_Missense_Mutation_p.V224I|MYOF_ENST00000371489.1_Missense_Mutation_p.V224I|MYOF_ENST00000358334.5_Missense_Mutation_p.V224I|MYOF_ENST00000371502.4_Missense_Mutation_p.V224I	p.V224I			Q9NZM1	MYOF_HUMAN			7	792	-			224	C2 2.|Necessary for interaction with EHD2.	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	c.670G>A	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	c	12.33	1.907087	0.33628	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502;ENST00000371489	T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34	5.55	-5.02	0.02982	5.55	-5.02	0.02982	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.492051	0.22153	N	0.063889	T	0.51041	0.1651	L	0.48218	1.51	0.25893	N	0.983452	B;B;B	0.21309	0.054;0.003;0.008	B;B;B	0.16722	0.012;0.016;0.013	T	0.41610	-0.9499	10	0.12430	T	0.62	-3.4163	14.3022	0.66359	0.0:0.4094:0.0:0.5906	.	206;224;224	Q9NZM1-8;Q9NZM1-6;Q9NZM1	.;.;MYOF_HUMAN	I	224	ENSP00000351094:V224I;ENSP00000352208:V224I;ENSP00000360556:V224I;ENSP00000360557:V224I;ENSP00000360544:V224I	ENSP00000351094:V224I	V	-	1	0	0	MYOF	95158593	95158593	0.000000	0.05858	0.232000	0.24009	0.930000	0.56654	-0.426000	0.07008	-1.225000	0.02578	0.645000	0.84053	GTC		0.502	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2		128.475611	-15	-15	65	65	NM_013451		41	128.478311	128.478311	40	0.506173	0	0	0	1	0	41	40	0.506173
C12orf50	160419	broad.mit.edu	37	12	88391867	88391867	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	g.chr12:88391867A>T	ENST00000298699.2	-	4	414	c.234T>A	c.(232-234)caT>caA	p.H78Q	C12orf50_ENST00000550553.1_Missense_Mutation_p.H78Q	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	78										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						AAACTAAAGGATGGTGGATGG	0.358																																						ENST00000298699.2											0			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						c.(232-234)caT>caA	chromosome 12 open reading frame 50						121.0	120.0	120.0					12																	88391867		2203	4300	6503	SO:0001583	missense	160419						g.chr12:88391867A>T	AK093140	AK093140	CCDS9031.1	CCDS9031.1	12q21.32	2006-02-03			2006-02-03				ENSG00000165805		ENSG00000165805				26665	26665	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_152589	NM_152589		Approved	FLJ35821	uc001tam.1	uc001tam.1	Q8NA57	Q8NA57	OTTHUMG00000169869	OTTHUMG00000169869	ENST00000298699.2:c.234T>A	12.37:g.88391867A>T	ENSP00000298699:p.His78Gln		C12orf50_ENST00000550553.1_Missense_Mutation_p.H78Q	p.H78Q	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN			4	414	-			78		Q6P674	Missense_Mutation	SNP	ENST00000298699.2	37	c.234T>A	CCDS9031.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.577693	0.45902	.	.	ENSG00000165805	ENST00000298699;ENST00000550553;ENST00000551944;ENST00000551163	T;T	0.30448	1.53;1.54	5.72	2.0	0.26442	5.72	2.0	0.26442	.	0.173757	0.40908	N	0.000982	T	0.13670	0.0331	N	0.08118	0	0.26227	N	0.979067	B;P	0.35272	0.302;0.493	B;B	0.38616	0.202;0.277	T	0.09885	-1.0654	10	0.49607	T	0.09	.	1.3176	0.02110	0.5426:0.1508:0.1613:0.1452	.	132;78	G3V208;Q8NA57	.;CL050_HUMAN	Q	78;78;132;78	ENSP00000298699:H78Q;ENSP00000448344:H78Q	ENSP00000298699:H78Q	H	-	3	2	2	C12orf50	86915998	86915998	1.000000	0.71417	0.999000	0.59377	0.949000	0.60115	1.013000	0.29937	0.096000	0.17463	0.482000	0.46254	CAT		0.358	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406328.1		35.362588	-6	-6	45	45	NM_152589		13	36.084264	36.084264	24	0.351351	0	0	0	1	0	13	24	0.351351
DNAH1	25981	broad.mit.edu	37	3	52393383	52393384	+	Frame_Shift_Ins	INS	-	-	C			TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	g.chr3:52393383_52393384insC	ENST00000420323.2	+	26	4649_4650	c.4388_4389insC	c.(4387-4392)ttccccfs	p.FP1463fs		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1463	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGCCAACTGTTCCCCCAGCTCT	0.639																																						ENST00000420323.2											0			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(4387-4392)ttccccfs	dynein, axonemal, heavy chain 1																																			SO:0001589	frameshift_variant	25981			ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52393383_52393384insC	U61738	U61738	CCDS46842.1	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841	ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	"""Axonemal dyneins"""	2940	2940	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603332	603332	"""dynein, axonemal, heavy polypeptide 1"""		"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	8812413, 9256245	Standard	Standard	NM_015512	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	uc011bef.2	Q9P2D7	Q9P2D7	OTTHUMG00000158378	OTTHUMG00000158378	ENST00000420323.2:c.4393dupC	3.37:g.52393388_52393388dupC	ENSP00000401514:p.Phe1463fs			p.FP1463fs	NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	26	4649_4650	+			1463	Stem (By similarity).	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Frame_Shift_Ins	INS	ENST00000420323.2	37	c.4388_4389insC	CCDS46842.1																																																																																									0.639	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	.	.	-8	-8	10	10	NM_015512		2			4	0.33						2	4	0.33
DCPS	28960	broad.mit.edu	37	11	126176602	126176602	+	Frame_Shift_Del	DEL	C	C	-			TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	g.chr11:126176602delC	ENST00000263579.4	+	2	668	c.339delC	c.(337-339)tacfs	p.Y113fs	RP11-712L6.5_ENST00000524964.1_5'Flank	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	113					cellular response to menadione (GO:0036245)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA metabolic process (GO:0016071)|negative regulation of programmed cell death (GO:0043069)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	m7G(5')pppN diphosphatase activity (GO:0050072)|RNA 7-methylguanosine cap binding (GO:0000340)			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		ATGATATCTACAGCACCTATC	0.542																																						ENST00000263579.4											0			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(337-339)tacfs	decapping enzyme, scavenger						121.0	98.0	106.0					11																	126176602		2201	4298	6499	SO:0001589	frameshift_variant	28960			deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding	g.chr11:126176602delC	AF077201	AF077201	CCDS8473.1	CCDS8473.1	11q24	2008-02-05			2008-02-05			ENSG00000110063	ENSG00000110063	ENSG00000110063	ENSG00000110063				29812	29812	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610534	610534						12198172, 14523240	12198172, 14523240	Standard	Standard	NM_014026	NM_014026		Approved	HSPC015, HINT-5, HSL1	uc001qdp.3	uc001qdp.3	Q96C86	Q96C86	OTTHUMG00000165829	OTTHUMG00000165829	ENST00000263579.4:c.339delC	11.37:g.126176602delC	ENSP00000263579:p.Tyr113fs			p.Y113fs	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)	2	668	+	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)	113		Q8NHL8|Q9Y2S5	Frame_Shift_Del	DEL	ENST00000263579.4	37	c.339delC	CCDS8473.1																																																																																									0.542	DCPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386455.1	.	.	-9	-9	37	37	NM_014026		18			29	0.38						18	29	0.38
