#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
ABCC9	10060	broad.mit.edu	37	12	22048219	22048219	+	Missense_Mutation	SNP	G	G	A			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr12:22048219G>A	ENST00000261201.4	-	11	1648	c.1649C>T	c.(1648-1650)gCt>gTt	p.A550V	ABCC9_ENST00000261200.4_Missense_Mutation_p.A550V|ABCC9_ENST00000345162.2_Missense_Mutation_p.A550V	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	550	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	AGCAAGAACAGCTGCTATGGG	0.313																																						ENST00000261200.4																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(1648-1650)gCt>gTt		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						102.0	103.0	103.0					12																	22048219		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22048219G>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.1649C>T	12.37:g.22048219G>A	ENSP00000261201:p.Ala550Val					ABCC9_ENST00000261201.4_Missense_Mutation_p.A550V|ABCC9_ENST00000345162.2_Missense_Mutation_p.A550V	p.A550V	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			11	1648	-			550			ABC transmembrane type-1 1.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.1649C>T	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.929121	0.34096	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62	4.85	4.85	0.62838	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	T	0.81019	0.4736	N	0.11845	0.185	0.80722	D	1	B;B	0.18863	0.031;0.012	B;B	0.23018	0.043;0.008	T	0.75508	-0.3293	10	0.02654	T	1	-16.1412	17.7535	0.88442	0.0:0.0:1.0:0.0	.	550;550	O60706;O60706-2	ABCC9_HUMAN;.	V	550;213;550;550	ENSP00000261200:A550V;ENSP00000440521:A213V;ENSP00000261201:A550V;ENSP00000261202:A550V	ENSP00000261200:A550V	A	-	2	0	ABCC9	21939486	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.256000	0.95535	2.503000	0.84419	0.655000	0.94253	GCT		0.313	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		13	24	0	0	0	1	0	13	24				
SPHKAP	80309	broad.mit.edu	37	2	228884216	228884216	+	Missense_Mutation	SNP	C	C	T	rs200812632		TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr2:228884216C>T	ENST00000392056.3	-	7	1400	c.1354G>A	c.(1354-1356)Gtt>Att	p.V452I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.V452I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	452						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.V452I(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTCTGAACAACGACGATTTTG	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		20681	0.0		0.001	False		,,,				2504	0.0					ENST00000392056.3																			2	Substitution - Missense(2)	p.V452I(2)	endometrium(2)	NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(1354-1356)Gtt>Att		SPHK1 interactor, AKAP domain containing							99.0	97.0	98.0					2																	228884216		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228884216C>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1354G>A	2.37:g.228884216C>T	ENSP00000375909:p.Val452Ile					SPHKAP_ENST00000344657.5_Missense_Mutation_p.V452I	p.V452I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	1400	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	452					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.1354G>A	CCDS46537.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	4.730	0.135652	0.09032	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.05717	3.41;3.4	6.03	2.42	0.29668	.	0.043547	0.85682	N	0.000000	T	0.01353	0.0044	N	0.00332	-1.63	0.23440	N	0.997673	B;B	0.17465	0.002;0.022	B;B	0.08055	0.0;0.003	T	0.47674	-0.9099	10	0.02654	T	1	.	8.9785	0.35950	0.0:0.2142:0.0:0.7858	.	452;452	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	I	452	ENSP00000375909:V452I;ENSP00000339886:V452I	ENSP00000339886:V452I	V	-	1	0	SPHKAP	228592460	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	3.744000	0.55112	0.179000	0.19938	-0.302000	0.09304	GTT		0.507	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		4	77	0	0	0	1	0	4	77				
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117.0	102.0	107.0					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)				HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R	p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		37	57	0	0	0	1	0	37	57				
BRDT	676	broad.mit.edu	37	1	92442625	92442625	+	Missense_Mutation	SNP	C	C	A			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr1:92442625C>A	ENST00000362005.3	+	7	1062	c.644C>A	c.(643-645)gCa>gAa	p.A215E	BRDT_ENST00000394530.3_Missense_Mutation_p.A169E|BRDT_ENST00000370389.2_Missense_Mutation_p.A142E|BRDT_ENST00000402388.1_Missense_Mutation_p.A215E|BRDT_ENST00000399546.2_Missense_Mutation_p.A215E	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	215					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AAGAGGAAAGCAGATACAACA	0.343																																						ENST00000370389.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56						c.(424-426)gCa>gAa		bromodomain, testis-specific							51.0	49.0	49.0					1																	92442625		2203	4300	6503	SO:0001583	missense	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92442625C>A	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.644C>A	1.37:g.92442625C>A	ENSP00000354568:p.Ala215Glu					BRDT_ENST00000402388.1_Missense_Mutation_p.A215E|BRDT_ENST00000362005.3_Missense_Mutation_p.A215E|BRDT_ENST00000394530.3_Missense_Mutation_p.A169E|BRDT_ENST00000399546.2_Missense_Mutation_p.A215E	p.A142E	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	6	1349	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	215					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	c.425C>A	CCDS735.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508668	0.85282	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000394530;ENST00000426141;ENST00000402388	T;T;T;T;T;T	0.15139	2.74;2.73;2.74;2.76;2.45;2.74	5.02	4.1	0.47936	.	0.000000	0.64402	D	0.000006	T	0.35624	0.0938	M	0.86953	2.85	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;0.981;1.0	D;D;D;D	0.71414	0.973;0.973;0.917;0.973	T	0.45804	-0.9236	10	0.87932	D	0	-12.8024	13.4471	0.61146	0.0:0.9243:0.0:0.0757	.	169;169;219;215	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	E	215;142;215;215;169;215;215	ENSP00000354568:A215E;ENSP00000359416:A142E;ENSP00000387822:A215E;ENSP00000378038:A169E;ENSP00000404969:A215E;ENSP00000384051:A215E	ENSP00000354568:A215E	A	+	2	0	BRDT	92215213	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.850000	0.62889	1.245000	0.43885	0.655000	0.94253	GCA		0.343	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		10	14	1	0	4.68919e-08	1	4.68919e-08	10	14				
MT-ND5	4540	broad.mit.edu	37	M	12763	12763	+	Missense_Mutation	SNP	G	G	A			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chrM:12763G>A	ENST00000361567.2	+	1	427	c.427G>A	c.(427-429)Ggc>Agc	p.G143S	MT-TH_ENST00000387441.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TE_ENST00000387459.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	143					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						AACTGTTCATCGGCTGAGAGG	0.418																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(427-429)Ggc>Agc		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001583	missense	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:12763G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.427G>A	M.37:g.12763G>A	ENSP00000354813:p.Gly143Ser						p.G143S			P03915	NU5M_HUMAN			1	427	+			143					Q34773|Q8WCY3	Missense_Mutation	SNP	ENST00000361567.2	37	c.427G>A																																																																																					0.418	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		14	1	0	0	0	1	0	14	1				
SLC9A8	23315	broad.mit.edu	37	20	48500445	48500445	+	Missense_Mutation	SNP	C	C	T			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr20:48500445C>T	ENST00000361573.2	+	14	1375	c.1333C>T	c.(1333-1335)Cgg>Tgg	p.R445W	SLC9A8_ENST00000541138.1_Missense_Mutation_p.R145W|SLC9A8_ENST00000539601.1_Missense_Mutation_p.R226W|SLC9A8_ENST00000417961.1_Missense_Mutation_p.R461W			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	445					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			CATGGAGAAGCGGCAGCTCAT	0.617																																						ENST00000417961.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(1381-1383)Cgg>Tgg		solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8							132.0	100.0	111.0					20																	48500445		2203	4300	6503	SO:0001583	missense	23315					Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr20:48500445C>T	AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"""Solute carriers"""	20728	protein-coding gene	gene with protein product		612730	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 8"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 8"""			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.1333C>T	20.37:g.48500445C>T	ENSP00000354966:p.Arg445Trp					SLC9A8_ENST00000361573.2_Missense_Mutation_p.R445W|SLC9A8_ENST00000541138.1_Missense_Mutation_p.R145W|SLC9A8_ENST00000539601.1_Missense_Mutation_p.R226W	p.R461W	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	BRCA - Breast invasive adenocarcinoma(9;3.91e-07)		14	1591	+			445					B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Missense_Mutation	SNP	ENST00000361573.2	37	c.1381C>T	CCDS13421.1	.	.	.	.	.	.	.	.	.	.	C	32	5.175281	0.94807	.	.	ENSG00000197818	ENST00000417961;ENST00000361573;ENST00000541138;ENST00000539601	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.07	4.08	0.47627	Cation/H+ exchanger (1);	0.054254	0.85682	D	0.000000	T	0.50446	0.1616	M	0.92604	3.325	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.81914	0.995;0.989;0.946	T	0.64262	-0.6449	10	0.87932	D	0	.	14.8134	0.70013	0.1447:0.8553:0.0:0.0	.	145;226;445	B4DIV9;B4DIX7;Q9Y2E8	.;.;SL9A8_HUMAN	W	461;445;145;226	ENSP00000416418:R461W;ENSP00000354966:R445W;ENSP00000441615:R145W;ENSP00000441716:R226W	ENSP00000354966:R445W	R	+	1	2	SLC9A8	47933852	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.887000	0.69751	2.357000	0.79964	0.561000	0.74099	CGG		0.617	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3	XM_030524		5	69	0	0	0	1	0	5	69				
GRIA1	2890	broad.mit.edu	37	5	153174277	153174277	+	Silent	SNP	C	C	T			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr5:153174277C>T	ENST00000285900.5	+	14	2710	c.2367C>T	c.(2365-2367)agC>agT	p.S789S	GRIA1_ENST00000340592.5_Intron|GRIA1_ENST00000518783.1_Silent_p.S799S|GRIA1_ENST00000448073.4_Intron|GRIA1_ENST00000521843.2_Silent_p.S720S|GRIA1_ENST00000518142.1_Silent_p.S709S	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	789					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	AGTGCGGCAGCGGGGGAGGTG	0.463																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(2365-2367)agC>agT		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						50.0	52.0	52.0					5																	153174277		2203	4300	6503	SO:0001819	synonymous_variant	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153174277C>T		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2367C>T	5.37:g.153174277C>T						GRIA1_ENST00000518783.1_Silent_p.S799S|GRIA1_ENST00000448073.4_Intron|GRIA1_ENST00000518142.1_Silent_p.S709S|GRIA1_ENST00000521843.2_Silent_p.S720S|GRIA1_ENST00000340592.5_Intron	p.S789S	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		14	2710	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	789					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	37	c.2367C>T	CCDS4322.1																																																																																				0.463	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			16	23	0	0	0	1	0	16	23				
TAOK3	51347	broad.mit.edu	37	12	118598096	118598096	+	Missense_Mutation	SNP	G	G	A			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr12:118598096G>A	ENST00000392533.3	-	19	2697	c.2207C>T	c.(2206-2208)gCa>gTa	p.A736V	TAOK3_ENST00000543709.1_5'UTR|TAOK3_ENST00000537952.1_Missense_Mutation_p.A276V|TAOK3_ENST00000419821.2_Missense_Mutation_p.A736V	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	736					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATTCTTGAGTGCTTTATACTG	0.368																																						ENST00000392533.3																			0				central_nervous_system(1)|lung(5)|skin(1)	7						c.(2206-2208)gCa>gTa		TAO kinase 3							267.0	239.0	249.0					12																	118598096		2203	4300	6503	SO:0001583	missense	51347				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:118598096G>A	AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.2207C>T	12.37:g.118598096G>A	ENSP00000376317:p.Ala736Val					TAOK3_ENST00000537952.1_Missense_Mutation_p.A276V|TAOK3_ENST00000419821.2_Missense_Mutation_p.A736V|TAOK3_ENST00000543709.1_5'UTR	p.A736V	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN			19	2697	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		736					Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Missense_Mutation	SNP	ENST00000392533.3	37	c.2207C>T	CCDS9188.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371979	0.82573	.	.	ENSG00000135090	ENST00000419821;ENST00000392533;ENST00000537952	T;T;T	0.73469	-0.75;-0.75;1.34	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.74291	0.3697	M	0.66939	2.045	0.80722	D	1	B	0.33512	0.415	B	0.32211	0.142	T	0.74618	-0.3605	10	0.46703	T	0.11	.	19.1238	0.93374	0.0:0.0:1.0:0.0	.	736	Q9H2K8	TAOK3_HUMAN	V	736;736;276	ENSP00000416374:A736V;ENSP00000376317:A736V;ENSP00000443834:A276V	ENSP00000376317:A736V	A	-	2	0	TAOK3	117082479	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.601000	0.98297	2.752000	0.94435	0.557000	0.71058	GCA		0.368	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281		34	66	0	0	0	1	0	34	66				
THUMPD3	25917	broad.mit.edu	37	3	9413207	9413207	+	Missense_Mutation	SNP	A	A	G			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr3:9413207A>G	ENST00000345094.3	+	4	1128	c.794A>G	c.(793-795)aAc>aGc	p.N265S	THUMPD3_ENST00000515662.2_Missense_Mutation_p.N265S|SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000452837.2_Missense_Mutation_p.N265S	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	265	THUMP. {ECO:0000255|PROSITE- ProRule:PRU00529}.					cytoplasm (GO:0005737)|nucleolus (GO:0005730)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		GACATGACCAACTTTGATGTG	0.423																																						ENST00000345094.3																			0				NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19						c.(793-795)aAc>aGc		THUMP domain containing 3							146.0	137.0	140.0					3																	9413207		2199	4294	6493	SO:0001583	missense	25917						methyltransferase activity|protein binding|RNA binding	g.chr3:9413207A>G	AL117483	CCDS2573.1	3p25.3	2004-06-04			ENSG00000134077	ENSG00000134077			24493	protein-coding gene	gene with protein product						12477932	Standard	NM_015453		Approved	DKFZP434F091	uc003brn.4	Q9BV44	OTTHUMG00000097031	ENST00000345094.3:c.794A>G	3.37:g.9413207A>G	ENSP00000339532:p.Asn265Ser					THUMPD3_ENST00000452837.2_Missense_Mutation_p.N265S|SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000515662.2_Missense_Mutation_p.N265S	p.N265S	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.101)	4	1128	+	Medulloblastoma(99;0.227)		265			THUMP.		Q9H8V6|Q9NVC1|Q9UFS3	Missense_Mutation	SNP	ENST00000345094.3	37	c.794A>G	CCDS2573.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.37|14.37	2.516076|2.516076	0.44763|0.44763	.|.	.|.	ENSG00000134077|ENSG00000134077	ENST00000452837;ENST00000345094;ENST00000515662|ENST00000441127	T;T;T|.	0.48522|.	0.81;0.81;0.81|.	5.93|5.93	4.75|4.75	0.60458|0.60458	THUMP (3);|.	0.118359|.	0.85682|.	N|.	0.000000|.	T|T	0.71986|0.71986	0.3405|0.3405	M|M	0.75150|0.75150	2.29|2.29	0.51482|0.51482	D|D	0.999923|0.999923	B|.	0.15719|.	0.014|.	B|.	0.22152|.	0.038|.	T|T	0.71467|0.71467	-0.4584|-0.4584	10|5	0.28530|.	T|.	0.3|.	-25.9073|-25.9073	11.8969|11.8969	0.52661|0.52661	0.9307:0.0:0.0693:0.0|0.9307:0.0:0.0693:0.0	.|.	265|.	Q9BV44|.	THUM3_HUMAN|.	S|A	265|122	ENSP00000395893:N265S;ENSP00000339532:N265S;ENSP00000424064:N265S|.	ENSP00000339532:N265S|.	N|T	+|+	2|1	0|0	THUMPD3|THUMPD3	9388207|9388207	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	5.257000|5.257000	0.65473|0.65473	1.040000|1.040000	0.40099|0.40099	0.454000|0.454000	0.30748|0.30748	AAC|ACT		0.423	THUMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214127.1	NM_015453		62	78	0	0	0	1	0	62	78				
HERC2P2	400322	broad.mit.edu	37	15	23300080	23300080	+	RNA	SNP	T	T	C	rs28482434	byFrequency	TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr15:23300080T>C	ENST00000560464.1	-	0	4207									hect domain and RLD 2 pseudogene 2																		TGCTGCACGTTGACAGGCGTG	0.612																																						ENST00000560464.1																			0																																																			0							g.chr15:23300080T>C	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23300080T>C														0	4207	-									RNA	SNP	ENST00000560464.1	37																																																																																						0.612	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			5	39	0	0	0	1	0	5	39				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		3	42	0	0	0	1	0	3	42				
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs200214744|rs565505867	byFrequency	TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662																																						ENST00000391413.2																			4	Substitution - Missense(4)	p.M93V(4)	endometrium(3)|kidney(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(277-279)Atg>Gtg		keratin associated protein 4-11							6.0	10.0	8.0					17																	39274291		651	1556	2207	SO:0001583	missense	653240					keratin filament		g.chr17:39274291T>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.277A>G	17.37:g.39274291T>C	ENSP00000375232:p.Met93Val						p.M93V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	315	-		Breast(137;0.000496)	93			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.277A>G	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	0.073	-1.199029	0.01581	.	.	ENSG00000212721	ENST00000391413	T	0.00580	6.43	4.25	-4.9	0.03094	.	.	.	.	.	T	0.00109	0.0003	N	0.00040	-2.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43097	-0.9412	9	0.02654	T	1	.	0.4739	0.00536	0.3479:0.2455:0.1203:0.2863	.	93	Q9BYQ6	KR411_HUMAN	V	93	ENSP00000375232:M93V	ENSP00000375232:M93V	M	-	1	0	KRTAP4-11	36527817	.	.	0.012000	0.15200	0.010000	0.07245	.	.	-1.319000	0.02286	-1.132000	0.01976	ATG		0.662	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			4	60	0	0	0	1	0	4	60				
AHRR	57491	broad.mit.edu	37	5	424018	424018	+	Missense_Mutation	SNP	G	G	C			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr5:424018G>C	ENST00000505113.1	+	7	690	c.646G>C	c.(646-648)Gag>Cag	p.E216Q	AHRR_ENST00000506456.1_Missense_Mutation_p.E72Q|AHRR_ENST00000512529.1_Missense_Mutation_p.E62Q|AHRR_ENST00000316418.5_Missense_Mutation_p.E216Q	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	216					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CACGCCCACCGAGTACTCGGC	0.682																																						ENST00000316418.5																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(646-648)Gag>Cag		aryl-hydrocarbon receptor repressor							46.0	55.0	52.0					5																	424018		2072	4195	6267	SO:0001583	missense	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:424018G>C	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.646G>C	5.37:g.424018G>C	ENSP00000424601:p.Glu216Gln					AHRR_ENST00000505113.1_Missense_Mutation_p.E216Q|AHRR_ENST00000506456.1_Missense_Mutation_p.E72Q|AHRR_ENST00000512529.1_Missense_Mutation_p.E62Q	p.E216Q	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		7	690	+			216					A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	ENST00000505113.1	37	c.646G>C	CCDS56355.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.002436	0.54254	.	.	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456	T;T;T;T	0.31247	1.98;1.97;1.5;1.5	3.96	3.96	0.45880	.	0.164767	0.52532	D	0.000072	T	0.58836	0.2150	M	0.86953	2.85	0.49130	D	0.999758	D;D;P	0.89917	1.0;0.994;0.892	D;P;P	0.75020	0.985;0.863;0.682	T	0.67757	-0.5588	10	0.72032	D	0.01	.	13.4727	0.61290	0.0:0.0:1.0:0.0	.	72;216;216	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	Q	216;216;62;72	ENSP00000424601:E216Q;ENSP00000323816:E216Q;ENSP00000424880:E62Q;ENSP00000426932:E72Q	ENSP00000323816:E216Q	E	+	1	0	AHRR	477018	1.000000	0.71417	0.508000	0.27688	0.008000	0.06430	8.699000	0.91316	1.749000	0.51849	0.491000	0.48974	GAG		0.682	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		19	45	0	0	0	1	0	19	45				
CASZ1	54897	broad.mit.edu	37	1	10714146	10714146	+	Silent	SNP	G	G	A			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr1:10714146G>A	ENST00000377022.3	-	11	2285	c.1968C>T	c.(1966-1968)taC>taT	p.Y656Y	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Silent_p.Y656Y	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	656					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CGCAGCCCTCGTACTTGCACT	0.557																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(1966-1968)taC>taT		castor zinc finger 1							143.0	129.0	134.0					1																	10714146		2203	4300	6503	SO:0001819	synonymous_variant	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10714146G>A	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1968C>T	1.37:g.10714146G>A						RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Silent_p.Y656Y	p.Y656Y	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	11	2285	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	656					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	ENST00000377022.3	37	c.1968C>T	CCDS41246.1																																																																																				0.557	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		16	27	0	0	0	1	0	16	27				
SLC25A15	10166	broad.mit.edu	37	13	41379306	41379306	+	Missense_Mutation	SNP	G	G	C			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr13:41379306G>C	ENST00000338625.4	+	4	603	c.367G>C	c.(367-369)Gtg>Ctg	p.V123L	SLC25A15_ENST00000478827.1_3'UTR	NM_014252.3	NP_055067.1	Q9Y619	ORNT1_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15	123					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|L-ornithine transmembrane transport (GO:1903352)|mitochondrial ornithine transport (GO:0000066)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	L-ornithine transmembrane transporter activity (GO:0000064)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|stomach(1)|urinary_tract(1)	14		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704)	L-Ornithine(DB00129)	TGCTGCACTGGTGCTCTGCCC	0.542																																						ENST00000338625.4																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|stomach(1)|urinary_tract(1)	14						c.(367-369)Gtg>Ctg		solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15	L-Ornithine(DB00129)						105.0	94.0	98.0					13																	41379306		2203	4300	6503	SO:0001583	missense	10166				cellular amino acid metabolic process|mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	g.chr13:41379306G>C	AF112968	CCDS9373.1	13q14	2013-05-22			ENSG00000102743	ENSG00000102743		"""Solute carriers"""	10985	protein-coding gene	gene with protein product	"""ornithine transporter 1"""	603861		ORNT1, HHH		10369256	Standard	NM_014252		Approved	ORC1, D13S327	uc001uxn.3	Q9Y619	OTTHUMG00000016776	ENST00000338625.4:c.367G>C	13.37:g.41379306G>C	ENSP00000342267:p.Val123Leu					SLC25A15_ENST00000478827.1_3'UTR	p.V123L	NM_014252.3	NP_055067.1	Q9Y619	ORNT1_HUMAN		all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704)	4	603	+		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)	123					Q5VZD8|Q9HC45	Missense_Mutation	SNP	ENST00000338625.4	37	c.367G>C	CCDS9373.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.772355	0.69992	.	.	ENSG00000102743	ENST00000338625;ENST00000443985	T	0.80214	-1.35	5.62	5.62	0.85841	Mitochondrial carrier domain (2);	0.054814	0.64402	D	0.000001	D	0.82751	0.5105	L	0.56769	1.78	0.58432	D	0.999997	P;B	0.46142	0.873;0.017	P;B	0.48921	0.595;0.042	T	0.79378	-0.1828	10	0.23302	T	0.38	.	18.6386	0.91386	0.0:0.0:1.0:0.0	.	63;123	B4DL63;Q9Y619	.;ORNT1_HUMAN	L	123;63	ENSP00000342267:V123L	ENSP00000342267:V123L	V	+	1	0	SLC25A15	40277306	1.000000	0.71417	1.000000	0.80357	0.426000	0.31534	9.744000	0.98853	2.651000	0.90000	0.650000	0.86243	GTG		0.542	SLC25A15-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276149.2	NM_014252		22	38	0	0	0	1	0	22	38				
LPHN3	23284	broad.mit.edu	37	4	62812686	62812686	+	Missense_Mutation	SNP	C	C	T			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr4:62812686C>T	ENST00000514591.1	+	15	2599	c.2270C>T	c.(2269-2271)aCg>aTg	p.T757M	LPHN3_ENST00000509896.1_Missense_Mutation_p.T825M|LPHN3_ENST00000506746.1_Missense_Mutation_p.T825M|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000511324.1_Missense_Mutation_p.T825M|LPHN3_ENST00000545650.1_Missense_Mutation_p.T757M|LPHN3_ENST00000508693.1_Missense_Mutation_p.T825M|LPHN3_ENST00000506700.1_Missense_Mutation_p.T757M|LPHN3_ENST00000514157.1_Missense_Mutation_p.T757M|LPHN3_ENST00000514996.1_Missense_Mutation_p.T757M|LPHN3_ENST00000508946.1_Missense_Mutation_p.T757M|LPHN3_ENST00000507625.1_Missense_Mutation_p.T825M|LPHN3_ENST00000504896.1_Missense_Mutation_p.T757M|LPHN3_ENST00000506720.1_Missense_Mutation_p.T825M|LPHN3_ENST00000507164.1_Missense_Mutation_p.T825M|LPHN3_ENST00000512091.2_Missense_Mutation_p.T757M			Q9HAR2	LPHN3_HUMAN	latrophilin 3	744					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.T757M(2)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TATTTATCCACGGAGAATGCC	0.393																																						ENST00000512091.1																			2	Substitution - Missense(2)	p.T757M(2)	upper_aerodigestive_tract(2)	breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(2269-2271)aCg>aTg		latrophilin 3							263.0	245.0	251.0					4																	62812686		1878	4113	5991	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62812686C>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2270C>T	4.37:g.62812686C>T	ENSP00000422533:p.Thr757Met					LPHN3_ENST00000511324.1_Missense_Mutation_p.T825M|LPHN3_ENST00000514591.1_Missense_Mutation_p.T757M|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000504896.1_Missense_Mutation_p.T757M|LPHN3_ENST00000509896.1_Missense_Mutation_p.T825M|LPHN3_ENST00000506700.1_Missense_Mutation_p.T757M|LPHN3_ENST00000507164.1_Missense_Mutation_p.T825M|LPHN3_ENST00000506720.1_Missense_Mutation_p.T825M|LPHN3_ENST00000508693.1_Missense_Mutation_p.T825M|LPHN3_ENST00000514996.1_Missense_Mutation_p.T757M|LPHN3_ENST00000507625.1_Missense_Mutation_p.T825M|LPHN3_ENST00000545650.1_Missense_Mutation_p.T757M|LPHN3_ENST00000514157.1_Missense_Mutation_p.T757M|LPHN3_ENST00000508946.1_Missense_Mutation_p.T757M|LPHN3_ENST00000506746.1_Missense_Mutation_p.T825M	p.T757M			Q9HAR2	LPHN3_HUMAN			15	3017	+			744					E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.2270C>T	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.927985	0.92389	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79;2.79;2.79;2.79;2.79;2.79;2.79;2.79;2.79;2.79;2.79	5.51	5.51	0.81932	Domain of unknown function DUF3497 (1);	0.000000	0.85682	D	0.000000	T	0.34600	0.0903	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.02821	-1.1106	10	0.87932	D	0	.	19.4278	0.94751	0.0:1.0:0.0:0.0	.	757;744;757	E9PE04;Q9HAR2;Q9HAR2-2	.;LPHN3_HUMAN;.	M	757;757;825;825;757;757;744;757;825;825;825;757;757;757;825;825;757	ENSP00000423388:T757M;ENSP00000422533:T757M;ENSP00000423787:T825M;ENSP00000425033:T825M;ENSP00000424120:T757M;ENSP00000439831:T757M;ENSP00000421476:T825M;ENSP00000424030:T825M;ENSP00000421372:T825M;ENSP00000425201:T757M;ENSP00000423434:T757M;ENSP00000421627:T757M;ENSP00000420931:T825M;ENSP00000425884:T825M;ENSP00000424258:T757M	ENSP00000280009:T757M	T	+	2	0	LPHN3	62495281	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.595000	0.87683	0.557000	0.71058	ACG		0.393	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			4	160	0	0	0	1	0	4	160				
ACTL9	284382	broad.mit.edu	37	19	8808501	8808501	+	Missense_Mutation	SNP	G	G	A			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr19:8808501G>A	ENST00000324436.3	-	1	671	c.551C>T	c.(550-552)tCt>tTt	p.S184F		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	184						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GGCGTAGACAGACAGCACCGA	0.662																																						ENST00000324436.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						c.(550-552)tCt>tTt		actin-like 9							54.0	49.0	51.0					19																	8808501		2203	4300	6503	SO:0001583	missense	284382					cytoplasm|cytoskeleton		g.chr19:8808501G>A		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.551C>T	19.37:g.8808501G>A	ENSP00000316674:p.Ser184Phe						p.S184F	NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN			1	671	-			184					A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	37	c.551C>T	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.533521	0.64972	.	.	ENSG00000181786	ENST00000324436	D	0.97811	-4.55	4.24	4.24	0.50183	.	0.153845	0.30329	N	0.009869	D	0.99093	0.9688	H	0.96861	3.895	0.51767	D	0.999932	D	0.76494	0.999	D	0.67382	0.951	D	0.98974	1.0802	10	0.87932	D	0	.	15.7323	0.77817	0.0:0.0:1.0:0.0	.	184	Q8TC94	ACTL9_HUMAN	F	184	ENSP00000316674:S184F	ENSP00000316674:S184F	S	-	2	0	ACTL9	8669501	1.000000	0.71417	0.842000	0.33263	0.323000	0.28346	8.965000	0.93393	2.373000	0.80994	0.462000	0.41574	TCT		0.662	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		18	44	0	0	0	1	0	18	44				
FMN1	342184	broad.mit.edu	37	15	33261517	33261517	+	Silent	SNP	G	G	A			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr15:33261517G>A	ENST00000559047.1	-	5	2384	c.2385C>T	c.(2383-2385)tgC>tgT	p.C795C	SNORD77_ENST00000391113.1_RNA|FMN1_ENST00000334528.9_Silent_p.C572C|FMN1_ENST00000561249.1_Silent_p.C697C			Q68DA7	FMN1_HUMAN	formin 1	795	Mediates interaction with alpha-catenin. {ECO:0000250}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TCTTTGGAGGGCAGTCATCAT	0.458																																						ENST00000334528.9																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(1714-1716)tgC>tgT		formin 1							418.0	385.0	396.0					15																	33261517		2011	4184	6195	SO:0001819	synonymous_variant	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33261517G>A	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2385C>T	15.37:g.33261517G>A						FMN1_ENST00000559047.1_Silent_p.C795C|FMN1_ENST00000561249.1_Silent_p.C697C	p.C572C	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	4	1715	-		all_lung(180;1.14e-07)	795			Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity).		Q3B7I6|Q3ZAR4|Q6ZSY1	Silent	SNP	ENST00000559047.1	37	c.1716C>T																																																																																					0.458	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		5	335	0	0	0	1	0	5	335				
HTR1A	3350	broad.mit.edu	37	5	63256897	63256897	+	Missense_Mutation	SNP	C	C	T			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr5:63256897C>T	ENST00000323865.3	-	1	883	c.650G>A	c.(649-651)cGc>cAc	p.R217H	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	217					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TCGGAATATGCGCCCATAGAG	0.587																																						ENST00000323865.3																			0				cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(649-651)cGc>cAc		5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						92.0	103.0	99.0					5																	63256897		2203	4300	6503	SO:0001583	missense	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256897C>T	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.650G>A	5.37:g.63256897C>T	ENSP00000316244:p.Arg217His					RP11-158J3.2_ENST00000502882.1_RNA	p.R217H	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	883	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	217					Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	c.650G>A	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.336965	0.81801	.	.	ENSG00000178394	ENST00000323865	T	0.39056	1.1	5.7	5.7	0.88788	GPCR, rhodopsin-like superfamily (1);	0.197923	0.43919	D	0.000519	T	0.64427	0.2597	M	0.81614	2.55	0.58432	D	0.999999	D	0.89917	1.0	D	0.69824	0.966	T	0.68236	-0.5462	10	0.87932	D	0	.	12.1821	0.54218	0.0:0.9226:0.0:0.0774	.	217	P08908	5HT1A_HUMAN	H	217	ENSP00000316244:R217H	ENSP00000316244:R217H	R	-	2	0	HTR1A	63292653	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.091000	0.71406	2.692000	0.91855	0.655000	0.94253	CGC		0.587	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		4	172	0	0	0	1	0	4	172				
CPEB4	80315	broad.mit.edu	37	5	173317377	173317377	+	Missense_Mutation	SNP	T	T	G			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr5:173317377T>G	ENST00000265085.5	+	1	2095	c.641T>G	c.(640-642)gTc>gGc	p.V214G	CPEB4_ENST00000519835.1_Missense_Mutation_p.V214G|CPEB4_ENST00000517880.1_5'Flank|CPEB4_ENST00000520867.1_Missense_Mutation_p.V214G|CPEB4_ENST00000334035.5_Missense_Mutation_p.V214G|CPEB4_ENST00000522336.1_5'Flank	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	214					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCCCATCATGTCAGCCCTGGC	0.512																																						ENST00000265085.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20						c.(640-642)gTc>gGc		cytoplasmic polyadenylation element binding protein 4							101.0	106.0	104.0					5																	173317377		2203	4300	6503	SO:0001583	missense	80315						nucleotide binding|RNA binding	g.chr5:173317377T>G	BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.641T>G	5.37:g.173317377T>G	ENSP00000265085:p.Val214Gly					CPEB4_ENST00000519835.1_Missense_Mutation_p.V214G|CPEB4_ENST00000334035.5_Missense_Mutation_p.V214G|CPEB4_ENST00000520867.1_Missense_Mutation_p.V214G	p.V214G	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		1	2095	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	214					B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Missense_Mutation	SNP	ENST00000265085.5	37	c.641T>G	CCDS4390.1	.	.	.	.	.	.	.	.	.	.	T	16.45	3.127075	0.56721	.	.	ENSG00000113742	ENST00000265085;ENST00000520867;ENST00000334035;ENST00000519835	T;T;T;T	0.57907	0.37;0.4;0.41;0.38	5.62	5.62	0.85841	.	0.108367	0.64402	D	0.000008	T	0.52996	0.1769	L	0.29908	0.895	0.80722	D	1	B;B;P;P	0.38020	0.444;0.202;0.615;0.615	B;B;P;P	0.46850	0.231;0.164;0.529;0.529	T	0.57189	-0.7854	10	0.66056	D	0.02	-12.106	15.8225	0.78667	0.0:0.0:0.0:1.0	.	214;214;214;214	B7ZLQ8;Q17RY0-2;E5RJM0;Q17RY0	.;.;.;CPEB4_HUMAN	G	214	ENSP00000265085:V214G;ENSP00000429092:V214G;ENSP00000334533:V214G;ENSP00000429048:V214G	ENSP00000265085:V214G	V	+	2	0	CPEB4	173249983	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.036000	0.70948	2.138000	0.66242	0.533000	0.62120	GTC		0.512	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		46	68	0	0	0	1	0	46	68				
PPP1R3A	5506	broad.mit.edu	37	7	113519446	113519446	+	Silent	SNP	G	G	A			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr7:113519446G>A	ENST00000284601.3	-	4	1769	c.1701C>T	c.(1699-1701)agC>agT	p.S567S		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	567					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CGGTATGTTCGCTCAGCAGAG	0.473																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(1699-1701)agC>agT		protein phosphatase 1, regulatory subunit 3A							120.0	111.0	114.0					7																	113519446		2203	4300	6503	SO:0001819	synonymous_variant	5506				glycogen metabolic process	integral to membrane		g.chr7:113519446G>A	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1701C>T	7.37:g.113519446G>A							p.S567S	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	1769	-			567					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	ENST00000284601.3	37	c.1701C>T	CCDS5759.1																																																																																				0.473	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		29	56	0	0	0	1	0	29	56				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		3	42	0	0	0	1	0	3	42				
SLC29A1	2030	broad.mit.edu	37	6	44198386	44198386	+	Missense_Mutation	SNP	T	T	C			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr6:44198386T>C	ENST00000393841.1	+	8	1162	c.671T>C	c.(670-672)cTg>cCg	p.L224P	SLC29A1_ENST00000371731.1_Missense_Mutation_p.L224P|SLC29A1_ENST00000393844.1_Missense_Mutation_p.L224P|SLC29A1_ENST00000313248.7_Missense_Mutation_p.L303P|SLC29A1_ENST00000371755.3_Missense_Mutation_p.L224P|SLC29A1_ENST00000371724.1_Missense_Mutation_p.L224P|SLC29A1_ENST00000371713.1_Missense_Mutation_p.L224P|SLC29A1_ENST00000371740.5_Missense_Mutation_p.L224P|SLC29A1_ENST00000371708.1_Missense_Mutation_p.L224P|SLC29A1_ENST00000427851.2_Missense_Mutation_p.L224P|SLC29A1_ENST00000472176.1_3'UTR	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	224					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	ATCTGTTACCTGGGCCTGCCC	0.547																																						ENST00000393841.1																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17						c.(670-672)cTg>cCg		solute carrier family 29 (equilibrative nucleoside transporter), member 1	Troglitazone(DB00197)						71.0	69.0	70.0					6																	44198386		2203	4300	6503	SO:0001583	missense	2030				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding	g.chr6:44198386T>C	U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"""Solute carriers"""	11003	protein-coding gene	gene with protein product		602193	"""solute carrier family 29 (nucleoside transporters), member 1"""	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.671T>C	6.37:g.44198386T>C	ENSP00000377424:p.Leu224Pro					SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371708.1_Missense_Mutation_p.L224P|SLC29A1_ENST00000371731.1_Missense_Mutation_p.L224P|SLC29A1_ENST00000427851.2_Missense_Mutation_p.L224P|SLC29A1_ENST00000371724.1_Missense_Mutation_p.L224P|SLC29A1_ENST00000313248.7_Missense_Mutation_p.L303P|SLC29A1_ENST00000371755.3_Missense_Mutation_p.L224P|SLC29A1_ENST00000371740.5_Missense_Mutation_p.L224P|SLC29A1_ENST00000371713.1_Missense_Mutation_p.L224P|SLC29A1_ENST00000393844.1_Missense_Mutation_p.L224P	p.L224P	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		8	1162	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		224					B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Missense_Mutation	SNP	ENST00000393841.1	37	c.671T>C	CCDS4908.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.347486	0.82022	.	.	ENSG00000112759	ENST00000393844;ENST00000313248;ENST00000427851;ENST00000371755;ENST00000371740;ENST00000371731;ENST00000393841;ENST00000371724;ENST00000371713;ENST00000371708	D;D;D;D;D;D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7	5.52	5.52	0.82312	.	0.440201	0.22580	N	0.058232	D	0.89518	0.6738	M	0.83012	2.62	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.71184	0.972;0.966	D	0.91124	0.4932	10	0.72032	D	0.01	-2.1742	14.23	0.65885	0.0:0.0:0.0:1.0	.	303;224	B3KQV7;Q99808	.;S29A1_HUMAN	P	224;303;224;224;224;224;224;224;224;224	ENSP00000377427:L224P;ENSP00000319152:L303P;ENSP00000392668:L224P;ENSP00000360820:L224P;ENSP00000360805:L224P;ENSP00000360796:L224P;ENSP00000377424:L224P;ENSP00000360789:L224P;ENSP00000360778:L224P;ENSP00000360773:L224P	ENSP00000319152:L303P	L	+	2	0	SLC29A1	44306364	0.336000	0.24757	1.000000	0.80357	0.999000	0.98932	3.615000	0.54167	2.091000	0.63221	0.533000	0.62120	CTG		0.547	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040721.1			14	36	0	0	0	1	0	14	36				
GIMAP6	474344	broad.mit.edu	37	7	150325064	150325064	+	Missense_Mutation	SNP	G	G	T			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr7:150325064G>T	ENST00000328902.5	-	3	838	c.622C>A	c.(622-624)Cag>Aag	p.Q208K	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	208	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGGCCTCCTGCTCCTCCCCC	0.537																																						ENST00000328902.5																			0				endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(622-624)Cag>Aag		GTPase, IMAP family member 6							120.0	126.0	124.0					7																	150325064		2203	4300	6503	SO:0001583	missense	474344						GTP binding	g.chr7:150325064G>T	AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"""GTPases, IMAP"""	21918	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 6"""					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.622C>A	7.37:g.150325064G>T	ENSP00000330374:p.Gln208Lys					GIMAP6_ENST00000493969.1_3'UTR	p.Q208K	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	838	-			208					C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Missense_Mutation	SNP	ENST00000328902.5	37	c.622C>A	CCDS34778.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.711372	0.30322	.	.	ENSG00000133561	ENST00000328902;ENST00000392862	T	0.04654	3.58	4.33	3.42	0.39159	AIG1 (1);	0.702252	0.14130	N	0.339431	T	0.04861	0.0131	L	0.33093	0.98	0.28861	N	0.895495	P;P	0.37441	0.595;0.563	B;B	0.39840	0.311;0.072	T	0.31081	-0.9956	10	0.17369	T	0.5	.	9.1696	0.37072	0.0:0.0:0.7827:0.2173	.	208;128	Q6P9H5;Q6P9H5-2	GIMA6_HUMAN;.	K	208;269	ENSP00000330374:Q208K	ENSP00000330374:Q208K	Q	-	1	0	GIMAP6	149955997	0.003000	0.15002	0.996000	0.52242	0.087000	0.18053	1.419000	0.34793	1.006000	0.39211	0.655000	0.94253	CAG		0.537	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1	NM_024711		77	100	1	0	5.04879e-28	1	5.21165e-28	77	100				
ERMARD	55780	broad.mit.edu	37	6	170159117	170159117	+	Silent	SNP	C	C	T			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr6:170159117C>T	ENST00000366773.3	+	6	594	c.561C>T	c.(559-561)aaC>aaT	p.N187N	ERMARD_ENST00000418781.3_Silent_p.N187N|ERMARD_ENST00000392095.4_Silent_p.N61N|ERMARD_ENST00000366772.2_Silent_p.N187N|ERMARD_ENST00000588451.1_Silent_p.N61N	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	187					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											ACCTGCGTAACGTCTTATGGC	0.378																																						ENST00000588451.1																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20						c.(181-183)aaC>aaT									215.0	193.0	200.0					6																	170159117		2203	4300	6503	SO:0001819	synonymous_variant	0					integral to membrane		g.chr6:170159117C>T	AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"""chromosome 6 open reading frame 70"""	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.561C>T	6.37:g.170159117C>T						C6orf70_ENST00000392095.4_Silent_p.N61N|C6orf70_ENST00000418781.3_Silent_p.N187N|C6orf70_ENST00000366772.2_Silent_p.N187N|C6orf70_ENST00000366773.3_Silent_p.N187N	p.N61N			Q5T6L9	CF070_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)	6	696	+		Breast(66;5.08e-05)|Ovarian(120;0.208)	187					B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Silent	SNP	ENST00000366773.3	37	c.183C>T	CCDS34576.1																																																																																				0.378	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341		36	67	0	0	0	1	0	36	67				
BAI1	575	broad.mit.edu	37	8	143623463	143623463	+	Missense_Mutation	SNP	G	G	A			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr8:143623463G>A	ENST00000517894.1	+	28	4762	c.3868G>A	c.(3868-3870)Ggc>Agc	p.G1290S	BAI1_ENST00000323289.5_Missense_Mutation_p.G1290S			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1290					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCACCTGCACGGCTCACCCCG	0.662																																						ENST00000517894.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(3868-3870)Ggc>Agc		brain-specific angiogenesis inhibitor 1							29.0	35.0	33.0					8																	143623463		2080	4205	6285	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143623463G>A	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3868G>A	8.37:g.143623463G>A	ENSP00000430945:p.Gly1290Ser					BAI1_ENST00000323289.5_Missense_Mutation_p.G1290S	p.G1290S			O14514	BAI1_HUMAN			28	4762	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		1290						Missense_Mutation	SNP	ENST00000517894.1	37	c.3868G>A		.	.	.	.	.	.	.	.	.	.	g	14.89	2.670105	0.47677	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.26067	1.76;1.76	4.26	2.43	0.29744	.	0.266203	0.26286	N	0.025248	T	0.09818	0.0241	N	0.16478	0.41	0.36386	D	0.862247	P	0.42871	0.792	B	0.30782	0.12	T	0.27020	-1.0086	10	0.10377	T	0.69	.	8.5111	0.33217	0.191:0.0:0.809:0.0	.	1290	E9PBK0	.	S	1290	ENSP00000430945:G1290S;ENSP00000313046:G1290S	ENSP00000313046:G1290S	G	+	1	0	BAI1	143620465	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.947000	0.56652	0.770000	0.33336	0.586000	0.80456	GGC		0.662	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		14	21	0	0	0	1	0	14	21				
KLF4	9314	broad.mit.edu	37	9	110249320	110249320	+	Missense_Mutation	SNP	C	C	A			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr9:110249320C>A	ENST00000374672.4	-	4	1726	c.1253G>T	c.(1252-1254)cGa>cTa	p.R418L		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	452					cellular response to cycloheximide (GO:0071409)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to peptide (GO:1901653)|epidermal cell differentiation (GO:0009913)|epidermis morphogenesis (GO:0048730)|fat cell differentiation (GO:0045444)|mesodermal cell fate determination (GO:0007500)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of muscle hyperplasia (GO:0014740)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic camera-type eye development (GO:0031077)|post-embryonic hemopoiesis (GO:0035166)|regulation of cell differentiation (GO:0045595)|response to retinoic acid (GO:0032526)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001010)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						TGTGTGGGTTCGCAGGTGTGC	0.587																																						ENST00000374672.4																			0				breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						c.(1252-1254)cGa>cTa		Kruppel-like factor 4 (gut)							270.0	240.0	250.0					9																	110249320		2203	4300	6503	SO:0001583	missense	9314				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr9:110249320C>A	AF022184	CCDS6770.2	9q31	2013-01-08			ENSG00000136826	ENSG00000136826		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6348	protein-coding gene	gene with protein product		602253				9422764, 16372018	Standard	NM_004235		Approved	EZF, GKLF	uc004bdg.3	O43474	OTTHUMG00000020449	ENST00000374672.4:c.1253G>T	9.37:g.110249320C>A	ENSP00000363804:p.Arg418Leu						p.R418L	NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN			4	1726	-			452					B2R8S4|B3KT79|L0R3I6|L0R4N5|P78338|Q5T3J8|Q5T3J9|Q8N717|Q9UNP3	Missense_Mutation	SNP	ENST00000374672.4	37	c.1253G>T	CCDS6770.2	.	.	.	.	.	.	.	.	.	.	C	32	5.189296	0.94923	.	.	ENSG00000136826	ENST00000374672	T	0.25085	1.82	5.57	4.64	0.57946	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.552432	0.13767	N	0.364128	T	0.46034	0.1372	L	0.54908	1.71	0.80722	D	1	P;D	0.61080	0.916;0.989	P;D	0.63033	0.587;0.91	T	0.40251	-0.9573	10	0.87932	D	0	.	15.7358	0.77842	0.0:0.8627:0.1373:0.0	.	452;418	O43474;O43474-1	KLF4_HUMAN;.	L	418	ENSP00000363804:R418L	ENSP00000363804:R418L	R	-	2	0	KLF4	109289141	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.784000	0.85713	1.281000	0.44480	0.655000	0.94253	CGA		0.587	KLF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053556.2	NM_004235		66	92	1	0	1.05635e-38	1	1.12677e-38	66	92				
LOC101928372	101928372	broad.mit.edu	37	1	160905975	160905975	+	lincRNA	DEL	T	T	-	rs368373384	byFrequency	TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr1:160905975delT	ENST00000427339.1	-	0	0				RP11-544M22.1_ENST00000356006.3_RNA																							cttcttcttcttttttttttt	0.393													|||unknown(HR)	181	0.0361422	0.1278	0.0144	5008	,	,		16599	0.0		0.001	False		,,,				2504	0.001					ENST00000356006.3																			0																																																			0							g.chr1:160905975delT																													1.37:g.160905975delT														0	629	+									RNA	DEL	ENST00000427339.1	37																																																																																						0.393	RP11-312J18.6-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000071456.1			4	3						4	3	---	---	---	---
RP11-739N20.2	0	broad.mit.edu	37	1	204363980	204363980	+	RNA	DEL	A	A	-			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr1:204363980delA	ENST00000443515.1	+	0	146																											tttgtttttcaaaaaaaaaaa	0.308																																						ENST00000443515.1																			0																																																			0							g.chr1:204363980delA																													1.37:g.204363980delA														0	146	+									RNA	DEL	ENST00000443515.1	37																																																																																						0.308	RP11-739N20.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000087972.1			3	3						3	3	---	---	---	---
FAM86EP	348926	broad.mit.edu	37	4	3957083	3957083	+	RNA	DEL	C	C	-			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr4:3957083delC	ENST00000313946.8	-	0	59				AC226119.5_ENST00000281228.8_RNA					family with sequence similarity 86, member E, pseudogene																		GAGCGCGCCGCCAGGAAGCGG	0.736																																						ENST00000281228.8																			0																																																			0							g.chr4:3957083delC			4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3957083delC						FAM86EP_ENST00000313946.8_RNA								0	65	-									RNA	DEL	ENST00000313946.8	37																																																																																						0.736	FAM86EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357822.1			2	4						2	4	---	---	---	---
TEAD1	7003	broad.mit.edu	37	11	12923583	12923583	+	Frame_Shift_Del	DEL	T	T	-			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr11:12923583delT	ENST00000526600.1	+	5	731	c.508delT	c.(508-510)tttfs	p.F170fs	TEAD1_ENST00000527636.1_Frame_Shift_Del_p.F266fs|TEAD1_ENST00000361905.4_Frame_Shift_Del_p.F251fs|TEAD1_ENST00000334310.6_Intron|TEAD1_ENST00000527575.1_Intron|TEAD1_ENST00000361985.2_Frame_Shift_Del_p.F266fs|SCARNA16_ENST00000516520.1_RNA			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	266	Pro-rich.|Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TTATGACAAATTTCCTGAAAA	0.423																																						ENST00000361905.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17						c.(751-753)ttfs		TEA domain family member 1 (SV40 transcriptional enhancer factor)							195.0	192.0	193.0					11																	12923583		2200	4294	6494	SO:0001589	frameshift_variant	7003				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:12923583delT	X84839	CCDS7810.1, CCDS7810.2	11p15.4	2008-11-12				ENSG00000187079			11714	protein-coding gene	gene with protein product		189967	"""atrophia areata, peripapillary chorioretinal degeneration"""	TCF13, AA		1851669, 9889009, 15016762	Standard	NM_021961		Approved	TEF-1	uc021qdx.1	P28347		ENST00000526600.1:c.508delT	11.37:g.12923583delT	ENSP00000435393:p.Phe170fs					TEAD1_ENST00000334310.6_Intron|TEAD1_ENST00000361985.2_Frame_Shift_Del_p.F266fs|TEAD1_ENST00000526600.1_Frame_Shift_Del_p.F170fs|TEAD1_ENST00000527575.1_Intron|TEAD1_ENST00000527636.1_Frame_Shift_Del_p.F266fs	p.F251fs	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN		Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)	10	1416	+			266			Transcriptional activation (Potential).		A4FUP2|E7EV65	Frame_Shift_Del	DEL	ENST00000526600.1	37	c.751delT																																																																																					0.423	TEAD1-007	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000387220.1	NM_021961		16	183						16	183	---	---	---	---
RPS6KA4	8986	broad.mit.edu	37	11	64135606	64135606	+	Frame_Shift_Del	DEL	A	A	-			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr11:64135606delA	ENST00000334205.4	+	10	1139	c.1074delA	c.(1072-1074)ggafs	p.G358fs	RPS6KA4_ENST00000294261.4_Frame_Shift_Del_p.G358fs|RPS6KA4_ENST00000528057.1_Frame_Shift_Del_p.G358fs|MIR1237_ENST00000408346.1_RNA	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	358	AGC-kinase C-terminal.				axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						CCCTGCAGGGATACTCCTTTG	0.642																																						ENST00000528057.1																			0				breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						c.(1072-1074)ggfs		ribosomal protein S6 kinase, 90kDa, polypeptide 4							58.0	55.0	56.0					11																	64135606		2201	4297	6498	SO:0001589	frameshift_variant	8986				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity	g.chr11:64135606delA	AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"""ribosomal protein S6 kinase, 90kD, polypeptide 4"""			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.1074delA	11.37:g.64135606delA	ENSP00000333896:p.Gly358fs					RPS6KA4_ENST00000334205.4_Frame_Shift_Del_p.G358fs|RPS6KA4_ENST00000294261.4_Frame_Shift_Del_p.G358fs	p.G358fs	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN			10	1162	+			358			AGC-kinase C-terminal.		A8K7Z8|O75585|Q53ES8	Frame_Shift_Del	DEL	ENST00000334205.4	37	c.1074delA	CCDS8073.1																																																																																				0.642	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106246.2	NM_003942		11	36						11	36	---	---	---	---
POLE	5426	broad.mit.edu	37	12	133220099	133220100	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr12:133220099_133220100delCA	ENST00000320574.5	-	34	4380_4381	c.4337_4338delTG	c.(4336-4338)gtgfs	p.V1447fs	POLE_ENST00000535270.1_Frame_Shift_Del_p.V1420fs|POLE_ENST00000434528.3_5'Flank	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1447					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GTTTATTGACCACACACACACA	0.604								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(4336-4338)gfs	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit																																				SO:0001589	frameshift_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133220099_133220100delCA		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4337_4338delTG	12.37:g.133220109_133220110delCA	ENSP00000322570:p.Val1447fs					POLE_ENST00000535270.1_Frame_Shift_Del_p.V1420fs	p.V1447fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	34	4380_4381	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1447					Q13533|Q86VH9	Frame_Shift_Del	DEL	ENST00000320574.5	37	c.4337_4338delTG	CCDS9278.1																																																																																				0.604	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		7	262						7	262	---	---	---	---
RAP1GAP2	23108	broad.mit.edu	37	17	2929686	2929688	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chr17:2929686_2929688delCTC	ENST00000254695.8	+	21	1998_2000	c.1908_1910delCTC	c.(1906-1911)cgctcc>cgc	p.S640del	RAP1GAP2_ENST00000542807.1_In_Frame_Del_p.S640del|RAP1GAP2_ENST00000540393.2_In_Frame_Del_p.S621del|RAP1GAP2_ENST00000366401.4_In_Frame_Del_p.S625del	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	640	Ser-rich.				negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CCATCTCCCGCTCCTCCTCCAGC	0.665																																						ENST00000254695.8																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(1906-1911)cgc>cg		RAP1 GTPase activating protein 2																																				SO:0001651	inframe_deletion	23108				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity	g.chr17:2929686_2929688delCTC	AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 4"", ""GTPase activating Rap/RanGAP domain-like 4"""	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.1908_1910delCTC	17.37:g.2929692_2929694delCTC	ENSP00000254695:p.Ser640del					RAP1GAP2_ENST00000540393.2_In_Frame_Del_p.RS617del|RAP1GAP2_ENST00000542807.1_In_Frame_Del_p.RS636del|RAP1GAP2_ENST00000366401.4_In_Frame_Del_p.RS621del	p.RS636del	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN			21	1998_2000	+			636			Ser-rich.		B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	In_Frame_Del	DEL	ENST00000254695.8	37	c.1908_1910delCTC	CCDS45573.1																																																																																				0.665	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438208.2			2	4						2	4	---	---	---	---
DGKK	139189	broad.mit.edu	37	X	50165595	50165596	+	RNA	INS	-	-	AC	rs59226442|rs72026364		TCGA-MK-A84Z-01A-11D-A397-08	TCGA-MK-A84Z-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba6d50b1-3968-4b7f-a87f-03c977b442c4	3d90d12d-2584-4528-8e66-55b7401b9bdf	g.chrX:50165595_50165596insAC	ENST00000376025.2	-	0	816							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TTAAAAGGTAAacacacacaca	0.411														797	0.211126	0.1422	0.1383	3775	,	,		11957	0.2083		0.161	False		,,,				2504	0.1442					ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa																																						139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50165595_50165596insAC	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50165604_50165605dupAC										Q5KSL6	DGKK_HUMAN			0	816	-	Ovarian(276;0.236)							B2RP91	RNA	INS	ENST00000376025.2	37																																																																																						0.411	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		3	5						3	5	---	---	---	---
