#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
C16orf70	80262	broad.mit.edu	37	16	67173971	67173971	+	Missense_Mutation	SNP	T	T	G			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr16:67173971T>G	ENST00000219139.3	+	9	934	c.746T>G	c.(745-747)cTt>cGt	p.L249R	C16orf70_ENST00000569600.1_Missense_Mutation_p.L249R	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	249										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		CAAGATGTTCTTAGCATGCTT	0.408																																						uc002erc.3																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17						c.(745-747)cTt>cGt		Homo sapiens chromosome 16 open reading frame 70 (C16orf70), mRNA.							126.0	114.0	118.0					16																	67173971		2199	4300	6499	SO:0001583	missense	80262							g.chr16:67173971T>G	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.746T>G	16.37:g.67173971T>G	ENSP00000219139:p.Leu249Arg					C16orf70_uc002erd.3_Missense_Mutation_p.L249R	p.L249R	NM_025187	NP_079463	Q9BSU1	CP070_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)	9	830	+		Ovarian(137;0.192)	249					Q9HA86	Missense_Mutation	SNP	ENST00000219139.3	37	c.746T>G	CCDS10828.1	.	.	.	.	.	.	.	.	.	.	T	14.19	2.461493	0.43736	.	.	ENSG00000125149	ENST00000219139	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.77205	0.4096	M	0.73217	2.22	0.58432	D	0.999999	D	0.67145	0.996	D	0.66602	0.945	T	0.79145	-0.1924	9	0.62326	D	0.03	-11.8018	15.3964	0.74798	0.0:0.0:0.0:1.0	.	249	Q9BSU1	CP070_HUMAN	R	249	.	ENSP00000219139:L249R	L	+	2	0	C16orf70	65731472	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.117000	0.71577	2.313000	0.78055	0.455000	0.32223	CTT		0.408	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		4	81	0	0	0	1	0	4	81				
CHRM4	1132	broad.mit.edu	37	11	46407206	46407206	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr11:46407206G>A	ENST00000433765.2	-	1	901	c.902C>T	c.(901-903)gCc>gTc	p.A301V		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	301					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GTTCTGGGTGGCACTGCCTGA	0.697																																					Esophageal Squamous(171;1020 1936 4566 30205 42542)	uc001nct.1																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20						c.(901-903)gCc>gTc		Homo sapiens cholinergic receptor, muscarinic 4 (CHRM4), mRNA.	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)						48.0	59.0	55.0					11																	46407206		2127	4224	6351	SO:0001583	missense	1132				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	g.chr11:46407206G>A	M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1953	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 4"""	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.902C>T	11.37:g.46407206G>A	ENSP00000409378:p.Ala301Val						p.A301V	NM_000741	NP_000732	P08173	ACM4_HUMAN		GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	0	902	-			301					B2RPP4|Q0VD60|Q4VBK7	Missense_Mutation	SNP	ENST00000433765.2	37	c.902C>T	CCDS44581.1	.	.	.	.	.	.	.	.	.	.	g	7.438	0.640047	0.14386	.	.	ENSG00000180720	ENST00000433765	T	0.58940	0.3	4.09	2.02	0.26589	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.33265	0.0857	N	0.16266	0.395	0.27656	N	0.947234	B	0.06786	0.001	B	0.10450	0.005	T	0.21586	-1.0241	9	0.12103	T	0.63	.	4.1601	0.10280	0.529:0.0:0.471:0.0	.	301	P08173	ACM4_HUMAN	V	301	ENSP00000409378:A301V	ENSP00000409378:A301V	A	-	2	0	CHRM4	46363782	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	4.279000	0.58953	0.934000	0.37316	0.457000	0.33378	GCC		0.697	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334985.1	NM_000741		3	44	0	0	0	1	0	3	44				
DHX30	22907	broad.mit.edu	37	3	47890987	47890987	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr3:47890987G>T	ENST00000445061.1	+	20	3541	c.3134G>T	c.(3133-3135)aGc>aTc	p.S1045I	DHX30_ENST00000348968.4_Missense_Mutation_p.S1017I|MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000457607.1_Missense_Mutation_p.S1073I|DHX30_ENST00000446256.2_Missense_Mutation_p.S1006I	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	1045						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AAGCCCAACAGCGTCACATAT	0.592																																						uc003cru.3																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(3133-3135)aGc>aTc		Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.							90.0	82.0	85.0					3																	47890987		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding	g.chr3:47890987G>T	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.3134G>T	3.37:g.47890987G>T	ENSP00000405620:p.Ser1045Ile					DHX30_uc003crt.3_Missense_Mutation_p.S1006I|MIR1226_uc021wxj.1_5'Flank	p.S1045I	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	19	3560	+			1045					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.3134G>T	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.448366	0.43429	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03496	3.92;3.92;3.92;3.91	5.25	4.38	0.52667	Domain of unknown function DUF1605 (1);	0.090751	0.64402	D	0.000001	T	0.06872	0.0175	M	0.64997	1.995	0.46478	D	0.999065	B;B	0.30634	0.288;0.232	B;B	0.34038	0.174;0.113	T	0.11084	-1.0602	10	0.56958	D	0.05	.	12.581	0.56390	0.0794:0.0:0.9206:0.0	.	1045;1006	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	I	1006;1045;1017;1073	ENSP00000392601:S1006I;ENSP00000405620:S1045I;ENSP00000343442:S1017I;ENSP00000394682:S1073I	ENSP00000343442:S1017I	S	+	2	0	DHX30	47865991	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.899000	0.69846	1.215000	0.43411	0.655000	0.94253	AGC		0.592	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		4	54	0	0	0	1	0	4	54				
DOCK5	80005	broad.mit.edu	37	8	25226092	25226092	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr8:25226092C>T	ENST00000276440.7	+	33	3333	c.3289C>T	c.(3289-3291)Cac>Tac	p.H1097Y		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1097					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TTCAGGTCCCCACAAAATCAA	0.393																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(3289-3291)Cac>Tac		Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.							60.0	61.0	61.0					8																	25226092		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25226092C>T		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.3289C>T	8.37:g.25226092C>T	ENSP00000276440:p.His1097Tyr					DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.H811Y|DOCK5_uc003xei.3_Missense_Mutation_p.H667Y|DOCK5_uc003xej.3_Non-coding_Transcript	p.H1097Y	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	32	3426	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1097					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.3289C>T	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.90|15.90	2.969615|2.969615	0.53614|0.53614	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000276440|ENST00000444569	T|T	0.30714|0.41400	1.52|1.0	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.047910|.	0.85682|.	D|.	0.000000|.	T|T	0.55353|0.55353	0.1915|0.1915	L|L	0.50333|0.50333	1.59|1.59	0.51482|0.51482	D|D	0.999923|0.999923	B;B;B|.	0.16802|.	0.019;0.008;0.019|.	B;B;B|.	0.19946|.	0.024;0.027;0.024|.	T|T	0.43327|0.43327	-0.9398|-0.9398	10|7	0.38643|0.37606	T|T	0.18|0.19	.|.	20.0567|20.0567	0.97653|0.97653	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1087;872;1097|.	D3DSS6;Q68DL4;Q9H7D0|.	.;.;DOCK5_HUMAN|.	Y|L	1097|868	ENSP00000276440:H1097Y|ENSP00000414125:P868L	ENSP00000276440:H1097Y|ENSP00000414125:P868L	H|P	+|+	1|2	0|0	DOCK5|DOCK5	25282009|25282009	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.832000|0.832000	0.47134|0.47134	4.896000|4.896000	0.63222|0.63222	2.741000|2.741000	0.93983|0.93983	0.655000|0.655000	0.94253|0.94253	CAC|CCA		0.393	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		14	41	0	0	0	1	0	14	41				
BAI2	576	broad.mit.edu	37	1	32207698	32207698	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr1:32207698C>T	ENST00000373658.3	-	8	1714	c.1373G>A	c.(1372-1374)gGt>gAt	p.G458D	BAI2_ENST00000398547.1_Missense_Mutation_p.G391D|BAI2_ENST00000398542.1_Missense_Mutation_p.G391D|BAI2_ENST00000257070.4_Missense_Mutation_p.G458D|BAI2_ENST00000398538.1_Missense_Mutation_p.G446D|BAI2_ENST00000373655.2_Missense_Mutation_p.G458D|BAI2_ENST00000527361.1_Missense_Mutation_p.G458D|BAI2_ENST00000398556.3_Missense_Mutation_p.G406D|BAI2_ENST00000440175.2_Missense_Mutation_p.G100D	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	458	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		AGTGAGGGCACCCGTGCATGT	0.677																																						uc001btn.3																			0				breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55						c.(1372-1374)gGt>gAt		Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA.							30.0	35.0	34.0					1																	32207698		2203	4300	6503	SO:0001583	missense	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32207698C>T	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.1373G>A	1.37:g.32207698C>T	ENSP00000362762:p.Gly458Asp					BAI2_uc010ogo.2_Missense_Mutation_p.G100D|BAI2_uc010ogp.2_Missense_Mutation_p.G391D|BAI2_uc010ogq.2_Missense_Mutation_p.G458D|BAI2_uc001bto.3_Missense_Mutation_p.G458D|BAI2_uc001btq.1_Missense_Mutation_p.G391D|BAI2_uc010ogr.1_Missense_Mutation_p.G391D	p.G458D	NM_001703	NP_001694	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	7	1727	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	458			TSP type-1 3.		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	c.1373G>A	CCDS346.2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.202795	0.79127	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51	4.1	3.19	0.36642	.	0.209202	0.24247	N	0.040215	T	0.75561	0.3866	M	0.91612	3.225	0.53688	D	0.99997	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0;1.0;1.0	T	0.79619	-0.1728	10	0.72032	D	0.01	.	11.0446	0.47850	0.0:0.9064:0.0:0.0936	.	391;458;446;100;391;458;458	A2A3C3;O60241-4;O60241-3;B4DKC3;A2A3C1;O60241-2;O60241	.;.;.;.;.;.;BAI2_HUMAN	D	406;391;458;458;391;458;458;100;446;396;437	ENSP00000381564:G406D;ENSP00000381555:G391D;ENSP00000362762:G458D;ENSP00000362759:G458D;ENSP00000381550:G391D;ENSP00000257070:G458D;ENSP00000435397:G458D;ENSP00000391071:G100D;ENSP00000381548:G446D;ENSP00000410921:G396D;ENSP00000437219:G437D	ENSP00000257070:G458D	G	-	2	0	BAI2	31980285	1.000000	0.71417	0.477000	0.27303	0.991000	0.79684	4.793000	0.62474	1.079000	0.41038	0.561000	0.74099	GGT		0.677	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		4	38	0	0	0	1	0	4	38				
LGMN	5641	broad.mit.edu	37	14	93172867	93172867	+	Silent	SNP	C	C	A			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr14:93172867C>A	ENST00000393218.2	-	13	1489	c.1152G>T	c.(1150-1152)ctG>ctT	p.L384L	LGMN_ENST00000555699.1_Intron|LGMN_ENST00000557434.1_Intron|LGMN_ENST00000334869.4_Silent_p.L384L	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	384					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|innate immune response (GO:0045087)|negative regulation of ERBB signaling pathway (GO:1901185)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of neuron apoptotic process (GO:0043524)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|receptor catabolic process (GO:0032801)|renal system process (GO:0003014)|response to acidic pH (GO:0010447)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|toll-like receptor signaling pathway (GO:0002224)|vitamin D metabolic process (GO:0042359)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		TCCGGAAGTGCAGCAGGGCCT	0.627																																						uc001yav.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18						c.(1150-1152)ctG>ctT		Homo sapiens legumain (LGMN), transcript variant 2, mRNA.							51.0	52.0	52.0					14																	93172867		2203	4300	6503	SO:0001819	synonymous_variant	5641				hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity	g.chr14:93172867C>A	D55696	CCDS9904.1	14q32.12	2011-04-08		2002-01-18	ENSG00000100600	ENSG00000100600			9472	protein-coding gene	gene with protein product		602620	"""protease, cysteine, 1 (legumain)"""	PRSC1		8893817, 9065484	Standard	NM_001008530		Approved	LGMN1	uc001yaw.3	Q99538		ENST00000393218.2:c.1152G>T	14.37:g.93172867C>A						LGMN_uc001yat.3_Intron|LGMN_uc001yau.3_Intron|LGMN_uc001yaw.3_Silent_p.L384L	p.L384L	NM_001008530	NP_005597	Q99538	LGMN_HUMAN		COAD - Colon adenocarcinoma(157;0.224)	12	1513	-		all_cancers(154;0.0706)	384					O00123|Q86TV2|Q86TV3|Q9BTY1	Silent	SNP	ENST00000393218.2	37	c.1152G>T	CCDS9904.1																																																																																				0.627	LGMN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412288.1	NM_005606		3	55	0	0	0	1	0	3	55				
KIAA0895L	653319	broad.mit.edu	37	16	67214355	67214355	+	Silent	SNP	G	G	A			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr16:67214355G>A	ENST00000290881.7	-	3	1085	c.159C>T	c.(157-159)gtC>gtT	p.V53V	KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000563902.1_Silent_p.V53V|KIAA0895L_ENST00000561621.1_Silent_p.V53V			Q68EN5	K895L_HUMAN	KIAA0895-like	53	Pro-rich.									breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						GCGCTGGGGGGACTGCCAGAG	0.657																																						uc002ert.3																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						c.(157-159)gtC>gtT		Homo sapiens KIAA0895-like (KIAA0895L), mRNA.							11.0	16.0	14.0					16																	67214355		2007	4140	6147	SO:0001819	synonymous_variant	653319							g.chr16:67214355G>A	AK092303	CCDS42177.1	16q22.1	2008-11-27				ENSG00000196123			34408	protein-coding gene	gene with protein product							Standard	NM_001040715		Approved	LOC653319	uc002ert.3	Q68EN5		ENST00000290881.7:c.159C>T	16.37:g.67214355G>A						KIAA0895L_uc002err.3_5'Flank|KIAA0895L_uc002ers.3_5'Flank|KIAA0895L_uc002eru.3_Silent_p.V53V|EXOC3L1_uc002erv.1_Non-coding_Transcript	p.V53V	NM_001040715	NP_001035805	Q68EN5	K895L_HUMAN			1	994	-			53			Pro-rich.		A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Silent	SNP	ENST00000290881.7	37	c.159C>T	CCDS42177.1																																																																																				0.657	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4	NM_001040715		8	14	0	0	0	1	0	8	14				
EIF4A1	1973	broad.mit.edu	37	17	7481488	7481488	+	Silent	SNP	A	A	G			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr17:7481488A>G	ENST00000293831.8	+	10	1018	c.1002A>G	c.(1000-1002)agA>agG	p.R334R	EIF4A1_ENST00000577269.1_Intron|EIF4A1_ENST00000582746.1_Intron|SNORA67_ENST00000384423.1_RNA|EIF4A1_ENST00000581808.1_3'UTR|CD68_ENST00000250092.6_5'Flank|SENP3-EIF4A1_ENST00000579777.1_RNA|SNORD10_ENST00000459579.1_RNA|CD68_ENST00000380498.6_5'Flank	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	334	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						CGTAGGCCAGAGGCATTGATG	0.507																																					Melanoma(120;278 1668 15796 27423 46368)	uc002gho.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						c.(1000-1002)agA>agG		Homo sapiens eukaryotic translation initiation factor 4A1 (EIF4A1), transcript variant 1, mRNA.							91.0	85.0	87.0					17																	7481488		2203	4300	6503	SO:0001819	synonymous_variant	1973				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|RNA cap binding|mRNA binding|protein binding|translation initiation factor activity	g.chr17:7481488A>G	D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"""DEAD-boxes"""	3282	protein-coding gene	gene with protein product		602641	"""eukaryotic translation initiation factor 4A, isoform 1"""	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149	ENST00000293831.8:c.1002A>G	17.37:g.7481488A>G						EIF4A1_uc002ghr.1_Intron|EIF4A1_uc021tpc.1_5'Flank|CD68_uc002ghu.3_5'Flank|CD68_uc002ghv.3_5'Flank	p.R334R	NM_001416	NP_001407	P60842	IF4A1_HUMAN			20	3565	+			334			Helicase C-terminal.		B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	Silent	SNP	ENST00000293831.8	37	c.1002A>G	CCDS11113.1																																																																																				0.507	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226952.6	NM_001416		3	74	0	0	0	1	0	3	74				
GNAS	2778	broad.mit.edu	37	20	57484597	57484597	+	Missense_Mutation	SNP	G	G	T	rs137854533		TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr20:57484597G>T	ENST00000371085.3	+	9	1105	c.681G>T	c.(679-681)caG>caT	p.Q227H	GNAS_ENST00000306090.10_Missense_Mutation_p.Q213H|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371100.4_Missense_Mutation_p.Q870H|GNAS_ENST00000371095.3_Missense_Mutation_p.Q213H|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.Q212H|GNAS_ENST00000354359.7_Missense_Mutation_p.Q228H|GNAS_ENST00000371102.4_Missense_Mutation_p.Q856H|GNAS_ENST00000371075.3_3'UTR	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	227			Q -> H (in pituitary adenoma; ACTH- secreting adenoma; in a patient with severe Cushing syndrome complicated by psychosis). {ECO:0000269|PubMed:7737262}.|Q -> R (in somatotrophinoma). {ECO:0000269|PubMed:2549426}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.Q227H(7)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TGGGTGGCCAGCGCGATGAAC	0.512			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	uc002xzw.3				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""	E			pituitary adenoma		7	Substitution - Missense(7)	p.Q227H(7)	thyroid(7)	adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(2608-2610)caG>caT		Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.							108.0	91.0	97.0					20																	57484597		2203	4300	6503	SO:0001583	missense	2778				G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57484597G>T	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.681G>T	20.37:g.57484597G>T	ENSP00000360126:p.Gln227His	TSP Lung(22;0.16)				GNAS_uc021wfl.1_3'UTR|GNAS_uc002xzt.3_Missense_Mutation_p.Q195H|GNAS_uc010gjq.3_Missense_Mutation_p.Q168H|GNAS_uc002xzx.3_Missense_Mutation_p.Q168H|GNAS_uc021wfn.1_Missense_Mutation_p.Q227H|GNAS_uc021wfo.1_Missense_Mutation_p.Q228H|GNAS_uc002yaa.3_Missense_Mutation_p.Q212H|GNAS_uc021wfp.1_Missense_Mutation_p.Q213H|GNAS_uc002yad.3_Missense_Mutation_p.Q118H|GNAS_uc002yae.3_Missense_Mutation_p.Q152H	p.Q870H	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		8	2895	+	all_lung(29;0.0104)		227					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371085.3	37	c.2610G>T	CCDS13472.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.594386	0.46214	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	D;D;D;D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93;-1.93;-1.93;-1.93	5.59	2.09	0.27110	.	0.000000	0.85682	D	0.000000	D	0.93067	0.7793	H	0.95611	3.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.994;0.992;0.975;0.998	D	0.91742	0.5405	10	0.87932	D	0	.	7.091	0.25283	0.4002:0.0:0.5998:0.0	.	227;228;212;870	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	H	870;856;213;227;228;212;213	ENSP00000360141:Q870H;ENSP00000360143:Q856H;ENSP00000360136:Q213H;ENSP00000360126:Q227H;ENSP00000346328:Q228H;ENSP00000265620:Q212H;ENSP00000304472:Q213H	ENSP00000265620:Q212H	Q	+	3	2	GNAS	56917992	1.000000	0.71417	0.998000	0.56505	0.068000	0.16541	2.207000	0.42788	0.844000	0.35094	-0.145000	0.13849	CAG		0.512	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	NM_000516		13	35	0	0	0	1	0	13	35				
CYP2C8	1558	broad.mit.edu	37	10	96802700	96802700	+	Missense_Mutation	SNP	C	C	T	rs147133669	byFrequency	TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr10:96802700C>T	ENST00000371270.3	-	7	1190	c.1096G>A	c.(1096-1098)Gtg>Atg	p.V366M	CYP2C8_ENST00000535898.1_Missense_Mutation_p.V264M|CYP2C8_ENST00000539050.1_Missense_Mutation_p.V280M	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	366					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	GCATGGGGCACACCGGTGGGG	0.488													C|||	3	0.000599042	0.0008	0.0014	5008	,	,		20568	0.0		0.001	False		,,,				2504	0.0					uc001kkb.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21						c.(1096-1098)Gtg>Atg		Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	4,4402	8.1+/-20.4	0,4,2199	243.0	204.0	217.0		1096,886,790,886	-9.0	0.0	10	dbSNP_134	217	0,8600		0,0,4300	no	missense,missense,missense,missense	CYP2C8	NM_000770.3,NM_001198853.1,NM_001198854.1,NM_001198855.1	21,21,21,21	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	benign,benign,benign,benign	366/491,296/421,264/389,296/421	96802700	4,13002	2203	4300	6503	SO:0001583	missense	1558				exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96802700C>T	M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"""Cytochrome P450s"""	2622	protein-coding gene	gene with protein product		601129	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"""			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.1096G>A	10.37:g.96802700C>T	ENSP00000360317:p.Val366Met					CYP2C8_uc010qoa.2_Missense_Mutation_p.V296M|CYP2C8_uc010qoc.2_Missense_Mutation_p.V264M|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.V280M|CYP2C8_uc021pwl.1_Missense_Mutation_p.V296M|CYP2C8_uc010qod.1_Missense_Mutation_p.V280M	p.V366M	NM_000770	NP_000761	P10632	CP2C8_HUMAN		all cancers(201;6.21e-05)	6	1191	-		Colorectal(252;0.0397)	366					A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Missense_Mutation	SNP	ENST00000371270.3	37	c.1096G>A	CCDS7438.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	9.561	1.118553	0.20877	9.08E-4	0.0	ENSG00000138115	ENST00000371270;ENST00000535868;ENST00000535898;ENST00000539050	T;T;T	0.70516	-0.49;-0.49;-0.49	4.49	-8.97	0.00758	.	0.552015	0.14889	U	0.292505	T	0.57184	0.2036	L	0.60957	1.885	0.09310	N	1	P;P;B;B	0.39071	0.508;0.658;0.364;0.41	B;B;B;B	0.37943	0.156;0.124;0.261;0.124	T	0.55636	-0.8110	10	0.72032	D	0.01	.	8.5394	0.33384	0.1303:0.5889:0.1179:0.1629	.	280;264;334;366	F5H7Q9;B7Z1F6;B7Z8S1;P10632	.;.;.;CP2C8_HUMAN	M	366;333;264;280	ENSP00000360317:V366M;ENSP00000445062:V264M;ENSP00000442343:V280M	ENSP00000360317:V366M	V	-	1	0	CYP2C8	96792690	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.941000	0.00329	-2.337000	0.00628	-1.105000	0.02106	GTG		0.488	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770		4	113	0	0	0	1	0	4	113				
ACAP1	9744	broad.mit.edu	37	17	7251632	7251632	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr17:7251632A>G	ENST00000158762.3	+	17	1722	c.1516A>G	c.(1516-1518)Aag>Gag	p.K506E	ACAP1_ENST00000570504.1_5'Flank|ACAP1_ENST00000574499.1_5'Flank|ACAP1_ENST00000575415.1_5'Flank|ACAP1_ENST00000571471.1_5'Flank	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	506	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.|Required for interaction with GULP1.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						CAGGCAGGAGAAGGAGGCCTG	0.627																																						uc002ggd.2																			0				NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						c.(1516-1518)Aag>Gag		Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA.							42.0	32.0	36.0					17																	7251632		2203	4299	6502	SO:0001583	missense	9744				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding	g.chr17:7251632A>G	D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16467	protein-coding gene	gene with protein product		607763	"""centaurin, beta 1"""	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.1516A>G	17.37:g.7251632A>G	ENSP00000158762:p.Lys506Glu						p.K506E	NM_014716	NP_055531	Q15027	ACAP1_HUMAN			16	1722	+			506			Arf-GAP.|Required for interaction with GULP1.		Q53XN9	Missense_Mutation	SNP	ENST00000158762.3	37	c.1516A>G	CCDS11101.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.580524	0.86645	.	.	ENSG00000072818	ENST00000158762	T	0.44482	0.92	5.22	5.22	0.72569	.	0.111417	0.64402	D	0.000011	T	0.68063	0.2960	M	0.86573	2.825	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.74359	-0.3691	10	0.87932	D	0	.	13.1034	0.59233	1.0:0.0:0.0:0.0	.	506	Q15027	ACAP1_HUMAN	E	506	ENSP00000158762:K506E	ENSP00000158762:K506E	K	+	1	0	ACAP1	7192356	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	6.929000	0.75852	2.196000	0.70406	0.533000	0.62120	AAG		0.627	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4	NM_014716		7	23	0	0	0	1	0	7	23				
NPAS2	4862	broad.mit.edu	37	2	101564729	101564729	+	Silent	SNP	C	C	T			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr2:101564729C>T	ENST00000335681.5	+	6	681	c.396C>T	c.(394-396)ttC>ttT	p.F132F	NPAS2_ENST00000542504.1_Silent_p.F197F|NPAS2_ENST00000486017.1_3'UTR	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	132	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGTTAAATTTCCTCCCAGAAC	0.348																																						uc010yvt.1																			0				cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(589-591)ttC>ttT		Homo sapiens neuronal PAS domain protein 2 (NPAS2), mRNA.							116.0	113.0	114.0					2																	101564729		2203	4300	6503	SO:0001819	synonymous_variant	4862				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:101564729C>T	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.396C>T	2.37:g.101564729C>T						NPAS2_uc002tap.1_Silent_p.F132F	p.F197F	NM_002518	NP_002509	Q99743	NPAS2_HUMAN			5	593	+			132					Q4ZFV9|Q53SQ3|Q86V96|Q99629	Silent	SNP	ENST00000335681.5	37	c.591C>T	CCDS2048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.880|7.880	0.730047|0.730047	0.15507|0.15507	.|.	.|.	ENSG00000170485|ENSG00000170485	ENST00000448812|ENST00000427413	.|.	.|.	.|.	4.97|4.97	4.1|4.1	0.47936|0.47936	.|.	.|.	.|.	.|.	.|.	T|T	0.59998|0.59998	0.2235|0.2235	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.57458|0.57458	-0.7808|-0.7808	4|4	.|.	.|.	.|.	.|.	9.8791|9.8791	0.41222|0.41222	0.0:0.8442:0.0:0.1558|0.0:0.8442:0.0:0.1558	.|.	.|.	.|.	.|.	S|F	122|198	.|.	.|.	P|S	+|+	1|2	0|0	NPAS2|NPAS2	100931161|100931161	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	1.996000|1.996000	0.40776|0.40776	1.309000|1.309000	0.44985|0.44985	0.650000|0.650000	0.86243|0.86243	CCT|TCC		0.348	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3			32	47	0	0	0	1	0	32	47				
RAI14	26064	broad.mit.edu	37	5	34826488	34826488	+	Silent	SNP	C	C	T			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr5:34826488C>T	ENST00000265109.3	+	16	2990	c.2703C>T	c.(2701-2703)ctC>ctT	p.L901L	RAI14_ENST00000503673.1_Silent_p.L901L|RAI14_ENST00000428746.2_Silent_p.L901L|RAI14_ENST00000512629.1_Silent_p.L872L|RAI14_ENST00000506376.1_Silent_p.L893L|RAI14_ENST00000397449.1_Silent_p.L894L|RAI14_ENST00000515799.1_Silent_p.L904L	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	901						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					TGAACAGCCTCTCCCAGCTCT	0.498																																						uc003jis.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2710-2712)ctC>ctT		Homo sapiens retinoic acid induced 14 (RAI14), transcript variant 6, mRNA.							80.0	81.0	81.0					5																	34826488		2203	4300	6503	SO:0001819	synonymous_variant	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34826488C>T	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.2703C>T	5.37:g.34826488C>T						RAI14_uc003jir.3_Silent_p.L901L|RAI14_uc010iur.3_Silent_p.L872L|RAI14_uc011coj.2_Silent_p.L901L|RAI14_uc003jit.3_Silent_p.L901L|RAI14_uc011cok.2_Silent_p.L893L	p.L904L	NM_001145525	NP_001138997	Q9P0K7	RAI14_HUMAN			17	3251	+	all_lung(31;0.000191)		901					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Silent	SNP	ENST00000265109.3	37	c.2712C>T	CCDS34142.1																																																																																				0.498	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		28	49	0	0	0	1	0	28	49				
CRY1	1407	broad.mit.edu	37	12	107415951	107415951	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr12:107415951C>T	ENST00000008527.5	-	2	1045	c.178G>A	c.(178-180)Gag>Aag	p.E60K		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	60	Photolyase/cryptochrome alpha/beta.				blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						TCAAGATCCTCAAGACACTGA	0.313																																						uc001tmi.3																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						c.(178-180)Gag>Aag		Homo sapiens cryptochrome 1 (photolyase-like) (CRY1), mRNA.							78.0	84.0	82.0					12																	107415951		2203	4300	6503	SO:0001583	missense	1407				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA photolyase activity|blue light photoreceptor activity|double-stranded DNA binding|nucleotide binding|protein binding	g.chr12:107415951C>T	BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"""cryptochrome 1 (photolyase-like)"""	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.178G>A	12.37:g.107415951C>T	ENSP00000008527:p.Glu60Lys						p.E60K	NM_004075	NP_004066	Q16526	CRY1_HUMAN			1	1037	-			60			DNA photolyase.			Missense_Mutation	SNP	ENST00000008527.5	37	c.178G>A	CCDS9112.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953221	0.73902	.	.	ENSG00000008405	ENST00000008527	.	.	.	5.25	5.25	0.73442	Rossmann-like alpha/beta/alpha sandwich fold (1);DNA photolyase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.66577	0.2803	M	0.68593	2.085	0.80722	D	1	B	0.21309	0.054	B	0.23852	0.049	T	0.62567	-0.6827	9	0.21014	T	0.42	-12.9293	18.4266	0.90611	0.0:1.0:0.0:0.0	.	60	Q16526	CRY1_HUMAN	K	60	.	ENSP00000008527:E60K	E	-	1	0	CRY1	105940081	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.552000	0.82192	2.448000	0.82819	0.555000	0.69702	GAG		0.313	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406827.1	NM_004075		5	85	0	0	0	1	0	5	85				
TIPARP	25976	broad.mit.edu	37	3	156421217	156421217	+	Missense_Mutation	SNP	C	C	T	rs1137515		TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr3:156421217C>T	ENST00000461166.1	+	5	1840	c.1252C>T	c.(1252-1254)Ctt>Ttt	p.L418F	TIPARP_ENST00000295924.7_Missense_Mutation_p.L418F|TIPARP_ENST00000486483.1_Missense_Mutation_p.L418F|TIPARP_ENST00000542783.1_Missense_Mutation_p.L418F	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	418					androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTTTAGGACACTTGGTGGGGT	0.383																																					Ovarian(171;276 1987 3319 6837 11197)	uc003fav.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1252-1254)Ctt>Ttt		Homo sapiens TCDD-inducible poly(ADP-ribose) polymerase (TIPARP), transcript variant 2, mRNA.							65.0	62.0	63.0					3																	156421217		2203	4300	6503	SO:0001583	missense	25976						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr3:156421217C>T	BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"""Poly (ADP-ribose) polymerases"""	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.1252C>T	3.37:g.156421217C>T	ENSP00000420612:p.Leu418Phe					TIPARP_uc003faw.3_Missense_Mutation_p.L418F|TIPARP_uc021xgg.1_Missense_Mutation_p.L418F	p.L418F	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		4	1674	+			418					D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Missense_Mutation	SNP	ENST00000461166.1	37	c.1252C>T	CCDS3177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.0|22.0	4.236173|4.236173	0.79800|0.79800	.|.	.|.	ENSG00000163659|ENSG00000163659	ENST00000486483;ENST00000295924;ENST00000461166;ENST00000473702;ENST00000481853;ENST00000542783|ENST00000495891	T;T;T;T;T;T|T	0.32272|0.31510	1.46;1.46;1.46;1.46;1.46;1.46|1.49	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	0.066745|.	0.64402|.	D|.	0.000016|.	T|T	0.37625|0.37625	0.1010|0.1010	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	P|.	0.47841|.	0.901|.	P|.	0.47786|.	0.557|.	T|T	0.04242|0.04242	-1.0966|-1.0966	10|7	0.37606|0.20519	T|T	0.19|0.43	.|.	13.0582|13.0582	0.58992|0.58992	0.0:0.9217:0.0:0.0783|0.0:0.9217:0.0:0.0783	rs1137515|rs1137515	418|.	Q7Z3E1|.	PARPT_HUMAN|.	F|I	418|120	ENSP00000418757:L418F;ENSP00000295924:L418F;ENSP00000420612:L418F;ENSP00000419982:L418F;ENSP00000418829:L418F;ENSP00000438345:L418F|ENSP00000420141:T120I	ENSP00000295924:L418F|ENSP00000420141:T120I	L|T	+|+	1|2	0|0	TIPARP|TIPARP	157903911|157903911	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	2.256000|2.256000	0.43231|0.43231	2.503000|2.503000	0.84419|0.84419	0.585000|0.585000	0.79938|0.79938	CTT|ACT		0.383	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	NM_015508		5	42	0	0	0	1	0	5	42				
