#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
SP1	6667	broad.mit.edu	37	12	53804795	53804795	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr12:53804795A>G	ENST00000327443.4	+	6	2227	c.2129A>G	c.(2128-2130)aAt>aGt	p.N710S	SP1_ENST00000426431.2_Missense_Mutation_p.N703S	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	710	Domain D.|VZV IE62-binding.				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		ACCCACCAGAATAAGAAGGGA	0.532																																						uc001scw.3																			0				breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5						c.(2128-2130)aAt>aGt		Homo sapiens Sp1 transcription factor (SP1), transcript variant 1, mRNA.							140.0	145.0	143.0					12																	53804795		2203	4300	6503	SO:0001583	missense	6667				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	HMG box domain binding|double-stranded DNA binding|histone deacetylase binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:53804795A>G	J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11205	protein-coding gene	gene with protein product	"""specificity protein 1"""	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.2129A>G	12.37:g.53804795A>G	ENSP00000329357:p.Asn710Ser		Somatic				SP1_uc021qyf.1_Missense_Mutation_p.N662S|SP1_uc010sog.2_Missense_Mutation_p.N703S	p.N710S	NM_138473	NP_612482	WXS	Illumina GAIIx	Phase_I	P08047	SP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.00527)	5	2226	+			710			Domain D.|VZV IE62-binding.		E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Missense_Mutation	SNP	ENST00000327443.4	37	c.2129A>G	CCDS8857.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.967944	0.53507	.	.	ENSG00000185591	ENST00000327443;ENST00000426431	T;T	0.08984	3.05;3.03	4.92	4.92	0.64577	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000011	T	0.07369	0.0186	N	0.22421	0.69	0.58432	D	0.999996	P	0.42692	0.787	B	0.39805	0.31	T	0.32534	-0.9903	10	0.46703	T	0.11	.	13.9824	0.64313	1.0:0.0:0.0:0.0	.	710	P08047	SP1_HUMAN	S	710;703	ENSP00000329357:N710S;ENSP00000404263:N703S	ENSP00000329357:N710S	N	+	2	0	SP1	52091062	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.861000	0.69553	2.204000	0.70986	0.383000	0.25322	AAT		0.532	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407044.1			7	65	0	0	0	1	0	7	65				
RASGEF1B	153020	broad.mit.edu	37	4	82366917	82366917	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr4:82366917C>A	ENST00000264400.2	-	7	956	c.805G>T	c.(805-807)Gtt>Ttt	p.V269F	RASGEF1B_ENST00000335927.7_Missense_Mutation_p.V227F|RASGEF1B_ENST00000509081.1_Missense_Mutation_p.V268F	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	269	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						TCTGTAGCAACCAAGTAGCTG	0.363																																						uc003hmi.1																			0				endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						c.(805-807)Gtt>Ttt		Homo sapiens RasGEF domain family, member 1B (RASGEF1B), mRNA.							90.0	88.0	88.0					4																	82366917		2203	4300	6503	SO:0001583	missense	153020				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr4:82366917C>A	AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.805G>T	4.37:g.82366917C>A	ENSP00000264400:p.Val269Phe		Somatic				RASGEF1B_uc003hmj.1_Missense_Mutation_p.V268F|RASGEF1B_uc010ijq.1_Missense_Mutation_p.V227F	p.V269F	NM_152545	NP_689758	WXS	Illumina GAIIx	Phase_I	Q0VAM2	RGF1B_HUMAN			6	949	-			269			Ras-GEF.		Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Missense_Mutation	SNP	ENST00000264400.2	37	c.805G>T	CCDS34022.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.919509	0.92249	.	.	ENSG00000138670	ENST00000509081;ENST00000264400;ENST00000335927;ENST00000504863	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.3	5.3	0.74995	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.75369	0.3840	H	0.95294	3.65	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.991;0.985;0.995	T	0.80808	-0.1217	10	0.45353	T	0.12	.	18.7367	0.91757	0.0:1.0:0.0:0.0	.	227;268;269	Q0VAM2-2;Q0VAM2-3;Q0VAM2	.;.;RGF1B_HUMAN	F	268;269;227;114	ENSP00000425393:V268F;ENSP00000264400:V269F;ENSP00000338437:V227F;ENSP00000426929:V114F	ENSP00000264400:V269F	V	-	1	0	RASGEF1B	82585941	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.320000	0.79064	2.745000	0.94114	0.655000	0.94253	GTT		0.363	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1	NM_152545		4	44	0	0	0	1	0	4	44				
PRPF8	10594	broad.mit.edu	37	17	1579616	1579616	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr17:1579616T>C	ENST00000572621.1	-	16	2702	c.2437A>G	c.(2437-2439)Aca>Gca	p.T813A	PRPF8_ENST00000304992.6_Missense_Mutation_p.T813A			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	813	Reverse transcriptase homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CAATGCACTGTGGTGGTATAT	0.537																																						uc002fte.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(2437-2439)Aca>Gca		Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.							113.0	106.0	108.0					17																	1579616		2203	4300	6503	SO:0001583	missense	10594					U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding	g.chr17:1579616T>C	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.2437A>G	17.37:g.1579616T>C	ENSP00000460348:p.Thr813Ala		Somatic					p.T813A	NM_006445	NP_006436	WXS	Illumina GAIIx	Phase_I	Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	16	2551	-			813					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.2437A>G	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	T	19.78	3.890785	0.72524	.	.	ENSG00000174231	ENST00000304992	T	0.80214	-1.35	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.74642	0.3743	L	0.41710	1.295	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.68131	-0.5490	10	0.26408	T	0.33	-0.0232	16.8061	0.85666	0.0:0.0:0.0:1.0	.	813	Q6P2Q9	PRP8_HUMAN	A	813	ENSP00000304350:T813A	ENSP00000304350:T813A	T	-	1	0	PRPF8	1526366	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	8.013000	0.88655	2.367000	0.80283	0.528000	0.53228	ACA		0.537	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			8	114	0	0	0	1	0	8	114				
EIF1AX	1964	broad.mit.edu	37	X	20156735	20156735	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chrX:20156735C>T	ENST00000379607.5	-	2	225	c.22G>A	c.(22-24)Gga>Aga	p.G8R	snoU2-30_ENST00000365012.1_RNA|EIF1AX_ENST00000379593.1_Intron|EIF1AX-AS1_ENST00000424026.1_RNA|snoU2_19_ENST00000364722.1_RNA	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	8					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						TTTTTACCTCCTTTACCTGAT	0.308																																						uc004czt.3																			0				endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.(22-24)Gga>Aga		Homo sapiens eukaryotic translation initiation factor 1A, X-linked (EIF1AX), mRNA.							135.0	126.0	129.0					X																	20156735		2203	4300	6503	SO:0001583	missense	1964					cytosol	translation initiation factor activity	g.chrX:20156735C>T	L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"""eukaryotic translation initiation factor 1A, X chromosome"""	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.22G>A	X.37:g.20156735C>T	ENSP00000368927:p.Gly8Arg		Somatic				SCARNA9L_uc010nfp.3_5'Flank	p.G8R	NM_001412	NP_001403	WXS	Illumina GAIIx	Phase_I	P47813	IF1AX_HUMAN			1	230	-			8					B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Missense_Mutation	SNP	ENST00000379607.5	37	c.22G>A	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.722807	0.68959	.	.	ENSG00000173674	ENST00000379607	T	0.47528	0.84	4.94	4.94	0.65067	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.79143	0.4396	H	0.96365	3.81	0.80722	D	1	D	0.67145	0.996	D	0.79784	0.993	D	0.86825	0.2007	9	0.87932	D	0	-2.5166	17.661	0.88193	0.0:1.0:0.0:0.0	.	8	P47813	IF1AX_HUMAN	R	8	ENSP00000368927:G8R	ENSP00000368927:G8R	G	-	1	0	EIF1AX	20066656	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.237000	0.78164	2.187000	0.69744	0.600000	0.82982	GGA		0.308	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1			30	67	0	0	0	1	0	30	67				
ARX	170302	broad.mit.edu	37	X	25031220	25031220	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chrX:25031220G>T	ENST00000379044.4	-	2	1102	c.892C>A	c.(892-894)Cac>Aac	p.H298N		NM_139058.2	NP_620689.1	Q96QS3	ARX_HUMAN	aristaless related homeobox	298					axon guidance (GO:0007411)|cell proliferation in forebrain (GO:0021846)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex tangential migration (GO:0021800)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|epithelial cell fate commitment (GO:0072148)|globus pallidus development (GO:0021759)|lipid digestion (GO:0044241)|positive regulation of organ growth (GO:0046622)|regulation of cell proliferation (GO:0042127)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			kidney(1)|large_intestine(2)|lung(1)	4						TCTTCCGGGTGCAGCAGCAGC	0.697																																						uc004dbp.4																			0				kidney(1)|large_intestine(2)|lung(1)	4						c.(892-894)Cac>Aac		Homo sapiens aristaless related homeobox (ARX), mRNA.							24.0	18.0	20.0					X																	25031220		2202	4298	6500	SO:0001583	missense	170302					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:25031220G>T	AY038071	CCDS14215.1	Xp21.3	2011-06-20			ENSG00000004848	ENSG00000004848		"""Homeoboxes / PRD class"""	18060	protein-coding gene	gene with protein product	"""cancer/testis antigen 121"""	300382	"""mental retardation, X-linked 54"", ""mental retardation, X-linked 43"", ""mental retardation, X-linked 36"", ""mental retardation, X-linked 29"", ""mental retardation, X-linked 32"", ""mental retardation, X-linked 33"", ""mental retardation, X-linked 38"", ""mental retardation, X-linked 87"", ""mental retardation, X-linked 76"""	MRXS1, PRTS, MRX76, MRX54, MRX43, MRX36, MRX29, MRX32, MRX33, MRX38, MRX87		11889467, 15850492, 17480217	Standard	NM_139058		Approved	ISSX, CT121, EIEE1	uc004dbp.4	Q96QS3	OTTHUMG00000021275	ENST00000379044.4:c.892C>A	X.37:g.25031220G>T	ENSP00000368332:p.His298Asn		Somatic					p.H298N	NM_139058	NP_620689	WXS	Illumina GAIIx	Phase_I	Q96QS3	ARX_HUMAN			1	1103	-			298						Missense_Mutation	SNP	ENST00000379044.4	37	c.892C>A	CCDS14215.1	.	.	.	.	.	.	.	.	.	.	g	8.820	0.937385	0.18206	.	.	ENSG00000004848	ENST00000379044	D	0.89681	-2.55	3.83	3.83	0.44106	.	0.061246	0.64402	U	0.000006	T	0.79358	0.4432	N	0.12182	0.205	0.43021	D	0.994579	B	0.10296	0.003	B	0.01281	0.0	T	0.74121	-0.3767	10	0.33141	T	0.24	.	14.9697	0.71223	0.0:0.0:1.0:0.0	.	298	Q96QS3	ARX_HUMAN	N	298	ENSP00000368332:H298N	ENSP00000368332:H298N	H	-	1	0	ARX	24941141	1.000000	0.71417	1.000000	0.80357	0.441000	0.31987	4.243000	0.58721	1.518000	0.48934	0.141000	0.15989	CAC		0.697	ARX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056109.1			6	12	0	0	0	1	0	6	12				
SATL1	340562	broad.mit.edu	37	X	84363501	84363501	+	5'UTR	SNP	G	G	A			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chrX:84363501G>A	ENST00000395409.3	-	0	473				SATL1_ENST00000332921.5_5'UTR|SATL1_ENST00000509231.1_Silent_p.T158T			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1								N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CTAATTGGCTGGTGCCTACTT	0.532											OREG0019887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004een.3																			0				NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						c.(472-474)acC>acT		Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA.							252.0	152.0	183.0					X																	84363501		692	1591	2283	SO:0001623	5_prime_UTR_variant	340562						N-acetyltransferase activity	g.chrX:84363501G>A	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.-88C>T	X.37:g.84363501G>A			Somatic	OREG0019887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1228		p.T158T	NM_001012980	NP_001012998	WXS	Illumina GAIIx	Phase_I	Q86VE3	SATL1_HUMAN			0	474	-			214			Gln-rich.		A0AVK7|E9PB72|Q5H8V9	Silent	SNP	ENST00000395409.3	37	c.474C>T																																																																																					0.532	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339		3	81	0	0	0	1	0	3	81				
HDAC9	9734	broad.mit.edu	37	7	18688246	18688246	+	Silent	SNP	G	G	A			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr7:18688246G>A	ENST00000432645.2	+	10	1398	c.1398G>A	c.(1396-1398)caG>caA	p.Q466Q	HDAC9_ENST00000428307.2_Silent_p.Q422Q|HDAC9_ENST00000417496.2_Silent_p.Q464Q|HDAC9_ENST00000406072.1_Silent_p.Q453Q|HDAC9_ENST00000441542.2_Silent_p.Q469Q|HDAC9_ENST00000524023.1_Silent_p.Q389Q|HDAC9_ENST00000401921.1_Silent_p.Q425Q|HDAC9_ENST00000405010.3_Silent_p.Q466Q|HDAC9_ENST00000406451.4_Silent_p.Q466Q|HDAC9_ENST00000456174.2_Silent_p.Q438Q	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	466					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TCATTCAACAGCAACACCAGC	0.507																																						uc003sui.3																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82						c.(1405-1407)caG>caA		Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	Valproic Acid(DB00313)						55.0	57.0	56.0					7																	18688246		2058	4192	6250	SO:0001819	synonymous_variant	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18688246G>A	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1398G>A	7.37:g.18688246G>A			Somatic				HDAC9_uc003sue.3_Silent_p.Q466Q|HDAC9_uc011jyd.2_Silent_p.Q466Q|HDAC9_uc003suh.3_Silent_p.Q466Q|HDAC9_uc003suj.3_Silent_p.Q425Q|HDAC9_uc011jya.2_Silent_p.Q464Q|HDAC9_uc003sua.1_Silent_p.Q444Q|HDAC9_uc003sud.2_Silent_p.Q466Q|HDAC9_uc011jyc.2_Silent_p.Q425Q|HDAC9_uc011jyb.2_Silent_p.Q422Q|HDAC9_uc003suf.2_Silent_p.Q497Q|HDAC9_uc010kud.2_Silent_p.Q469Q|HDAC9_uc011jye.2_Silent_p.Q438Q|HDAC9_uc011jyf.2_Silent_p.Q389Q|HDAC9_uc010kue.1_Silent_p.Q209Q	p.Q469Q	NM_178425	NP_848512	WXS	Illumina GAIIx	Phase_I	Q9UKV0	HDAC9_HUMAN			9	1448	+	all_lung(11;0.187)		466					A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Silent	SNP	ENST00000432645.2	37	c.1407G>A	CCDS47555.1																																																																																				0.507	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			3	80	0	0	0	1	0	3	80				
CMA1	1215	broad.mit.edu	37	14	24976707	24976707	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr14:24976707T>C	ENST00000250378.3	-	2	93	c.64A>G	c.(64-66)Atc>Gtc	p.I22V	CMA1_ENST00000206446.4_Intron|RP11-80A15.1_ENST00000555109.1_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	22	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|cellular response to glucose stimulus (GO:0071333)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|interleukin-1 beta biosynthetic process (GO:0050720)|midbrain development (GO:0030901)|peptide metabolic process (GO:0006518)|positive regulation of angiogenesis (GO:0045766)|regulation of inflammatory response (GO:0050727)	extracellular region (GO:0005576)|intracellular (GO:0005622)	peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		CCCCCGATGATCTCCCCTGGA	0.507																																						uc001wpp.1																			0		p.E21D(1)		kidney(1)|lung(8)|pancreas(1)|prostate(1)	11						c.(64-66)Atc>Gtc		Homo sapiens chymase 1, mast cell (CMA1), mRNA.							105.0	98.0	100.0					14																	24976707		2203	4300	6503	SO:0001583	missense	1215				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr14:24976707T>C		CCDS9630.1	14q12	2012-08-30			ENSG00000092009	ENSG00000092009	3.4.21.39		2097	protein-coding gene	gene with protein product		118938				8468056	Standard	NM_001836		Approved		uc001wpp.1	P23946	OTTHUMG00000140181	ENST00000250378.3:c.64A>G	14.37:g.24976707T>C	ENSP00000250378:p.Ile22Val		Somatic				CMA1_uc010alx.1_Intron	p.I22V	NM_001836	NP_001827	WXS	Illumina GAIIx	Phase_I	P23946	CMA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0271)	1	94	-			22			Peptidase S1.		B5BUM8|Q16018|Q3SY36|Q3SY37|Q9UDH5	Missense_Mutation	SNP	ENST00000250378.3	37	c.64A>G	CCDS9630.1	.	.	.	.	.	.	.	.	.	.	T	18.06	3.538545	0.65085	.	.	ENSG00000092009	ENST00000250378	T	0.64618	-0.11	5.01	3.87	0.44632	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.120245	0.37483	N	0.002067	T	0.52629	0.1746	L	0.39147	1.195	0.80722	D	1	B	0.25048	0.117	B	0.31812	0.136	T	0.53344	-0.8452	10	0.72032	D	0.01	.	7.3823	0.26862	0.0:0.0973:0.0:0.9027	.	22	P23946	CMA1_HUMAN	V	22	ENSP00000250378:I22V	ENSP00000250378:I22V	I	-	1	0	CMA1	24046547	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	2.602000	0.46257	1.051000	0.40369	0.533000	0.62120	ATC		0.507	CMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276535.2			5	203	0	0	0	1	0	5	203				
CPOX	1371	broad.mit.edu	37	3	98304370	98304370	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr3:98304370G>T	ENST00000264193.2	-	5	1305	c.1087C>A	c.(1087-1089)Cct>Act	p.P363T		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	363					heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to arsenic-containing substance (GO:0046685)|response to insecticide (GO:0017085)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to methylmercury (GO:0051597)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	coproporphyrinogen oxidase activity (GO:0004109)|protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						ATGTAAGAAGGAACTACAGCC	0.507																																					Esophageal Squamous(75;7 1223 22300 43648 48951)	uc003dsx.3																			0				endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						c.(1087-1089)Cct>Act		Homo sapiens coproporphyrinogen oxidase (CPOX), mRNA.							165.0	172.0	169.0					3																	98304370		2203	4300	6503	SO:0001583	missense	1371					mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity	g.chr3:98304370G>T	BC017210	CCDS2932.1	3q12	2012-10-02		2004-01-30		ENSG00000080819	1.3.3.3		2321	protein-coding gene	gene with protein product	"""coproporphyria"""	612732	"""coproporphyrinogen oxidase (coproporphyria, harderoporphyria)"""	CPO		7757079, 8407975	Standard	NM_000097		Approved	CPX, HCP	uc003dsx.3	P36551		ENST00000264193.2:c.1087C>A	3.37:g.98304370G>T	ENSP00000264193:p.Pro363Thr		Somatic					p.P363T	NM_000097	NP_000088	WXS	Illumina GAIIx	Phase_I	P36551	HEM6_HUMAN			4	1194	-			363					A8K275|B4DSD5|Q14060|Q53F08|Q8IZ45|Q96AF3	Missense_Mutation	SNP	ENST00000264193.2	37	c.1087C>A	CCDS2932.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.730630	0.89390	.	.	ENSG00000080819	ENST00000264193	D	0.93189	-3.18	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.97244	0.9099	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97289	0.9923	9	.	.	.	-15.8654	17.776	0.88508	0.0:0.0:1.0:0.0	.	363	P36551	HEM6_HUMAN	T	363	ENSP00000264193:P363T	.	P	-	1	0	CPOX	99787060	1.000000	0.71417	0.960000	0.40013	0.953000	0.61014	9.476000	0.97823	2.806000	0.96561	0.655000	0.94253	CCT		0.507	CPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358900.1	NM_000097		13	208	0	0	0	1	0	13	208				
OR5AU1	390445	broad.mit.edu	37	14	21623307	21623307	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr14:21623307G>A	ENST00000304418.3	-	1	915	c.878C>T	c.(877-879)gCa>gTa	p.A293V		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		GAGGTGGGATGCACAGGTGGA	0.522																																						uc010tlp.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21						c.(877-879)gCa>gTa		Homo sapiens olfactory receptor, family 5, subfamily AU, member 1 (OR5AU1), mRNA.							168.0	137.0	147.0					14																	21623307		2203	4300	6503	SO:0001583	missense	390445				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21623307G>A	AL157687	CCDS32042.1	14q11.2	2013-09-23			ENSG00000169327	ENSG00000169327		"""GPCR / Class A : Olfactory receptors"""	15362	protein-coding gene	gene with protein product							Standard	NM_001004731		Approved		uc010tlp.2	Q8NGC0	OTTHUMG00000170753	ENST00000304418.3:c.878C>T	14.37:g.21623307G>A	ENSP00000302057:p.Ala293Val		Somatic					p.A293V	NM_001004731	NP_001004731	WXS	Illumina GAIIx	Phase_I	Q8NGC0	O5AU1_HUMAN	Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)	0	878	-	all_cancers(95;0.00238)		293					B2RP78|Q6IEU2|Q96R10	Missense_Mutation	SNP	ENST00000304418.3	37	c.878C>T	CCDS32042.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733920	0.69189	.	.	ENSG00000169327	ENST00000304418	T	0.38560	1.13	4.48	4.48	0.54585	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.59183	0.2175	M	0.61703	1.905	0.31404	N	0.676262	D	0.56746	0.977	P	0.62560	0.904	T	0.64516	-0.6389	9	0.66056	D	0.02	.	14.7151	0.69262	0.0:0.0:1.0:0.0	.	293	Q8NGC0	O5AU1_HUMAN	V	293	ENSP00000302057:A293V	ENSP00000302057:A293V	A	-	2	0	OR5AU1	20693147	0.120000	0.22244	0.991000	0.47740	0.927000	0.56198	1.144000	0.31565	2.323000	0.78572	0.491000	0.48974	GCA		0.522	OR5AU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410213.1			3	53	0	0	0	1	0	3	53				
COL14A1	7373	broad.mit.edu	37	8	121238917	121238917	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr8:121238917G>A	ENST00000297848.3	+	16	2186	c.1916G>A	c.(1915-1917)aGt>aAt	p.S639N	COL14A1_ENST00000309791.4_Missense_Mutation_p.S639N|COL14A1_ENST00000247781.3_Missense_Mutation_p.S544N|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ACGACAGACAGTTTTAGGGTG	0.473																																						uc003yox.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(1915-1917)aGt>aAt		Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.							96.0	87.0	90.0					8																	121238917		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121238917G>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1916G>A	8.37:g.121238917G>A	ENSP00000297848:p.Ser639Asn		Somatic				COL14A1_uc003yoy.3_Missense_Mutation_p.S317N	p.S639N	NM_021110	NP_066933	WXS	Illumina GAIIx	Phase_I	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		15	2181	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		639			Fibronectin type-III 5.			Missense_Mutation	SNP	ENST00000297848.3	37	c.1916G>A	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.876382	0.51801	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	5.63	5.63	0.86233	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.179154	0.64402	D	0.000015	T	0.64627	0.2615	M	0.81497	2.545	0.80722	D	1	B;B	0.15473	0.003;0.013	B;B	0.15870	0.014;0.01	T	0.64702	-0.6345	10	0.66056	D	0.02	.	12.5536	0.56240	0.0803:0.0:0.9197:0.0	.	639;639	Q05707-2;Q05707	.;COEA1_HUMAN	N	639;639;544;452	ENSP00000311809:S639N;ENSP00000297848:S639N;ENSP00000247781:S544N;ENSP00000409461:S452N	ENSP00000247781:S544N	S	+	2	0	COL14A1	121308098	1.000000	0.71417	0.181000	0.23098	0.985000	0.73830	5.769000	0.68865	2.652000	0.90054	0.557000	0.71058	AGT		0.473	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		3	57	0	0	0	1	0	3	57				
MOV10L1	54456	broad.mit.edu	37	22	50582545	50582545	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr22:50582545A>G	ENST00000262794.5	+	18	2461	c.2378A>G	c.(2377-2379)gAc>gGc	p.D793G	MOV10L1_ENST00000540615.1_Missense_Mutation_p.D773G|MOV10L1_ENST00000395852.1_5'Flank|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.D793G|MOV10L1_ENST00000395858.3_Missense_Mutation_p.D793G	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	793					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GCCTTGCCGGACAGTCGGATT	0.562																																						uc003bjj.3																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(2377-2379)gAc>gGc		Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.							275.0	229.0	244.0					22																	50582545		2203	4300	6503	SO:0001583	missense	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding	g.chr22:50582545A>G	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.2378A>G	22.37:g.50582545A>G	ENSP00000262794:p.Asp793Gly		Somatic				MOV10L1_uc003bjk.4_Missense_Mutation_p.D793G|MOV10L1_uc011arp.2_Missense_Mutation_p.D773G|MOV10L1_uc003bjl.3_5'Flank	p.D793G	NM_018995	NP_061868	WXS	Illumina GAIIx	Phase_I	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	17	2461	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	793					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	c.2378A>G	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	A	14.43	2.531817	0.45073	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	5.82	5.82	0.92795	.	0.260360	0.50627	D	0.000115	T	0.67126	0.2860	N	0.04355	-0.22	0.80722	D	1	P;B;P	0.50443	0.935;0.238;0.619	B;B;B	0.44108	0.441;0.179;0.268	T	0.74959	-0.3486	10	0.52906	T	0.07	-38.612	16.1832	0.81925	1.0:0.0:0.0:0.0	.	773;793;793	F5H403;A8MXC6;Q9BXT6	.;.;M10L1_HUMAN	G	793;793;793;773	ENSP00000438978:D793G;ENSP00000262794:D793G;ENSP00000379199:D793G;ENSP00000438542:D773G	ENSP00000262794:D793G	D	+	2	0	MOV10L1	48924672	1.000000	0.71417	0.988000	0.46212	0.975000	0.68041	3.415000	0.52700	2.218000	0.71995	0.533000	0.62120	GAC		0.562	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		78	158	0	0	0	1	0	78	158				
ADCK1	57143	broad.mit.edu	37	14	78365449	78365449	+	Missense_Mutation	SNP	G	G	C	rs373401592		TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr14:78365449G>C	ENST00000238561.5	+	6	688	c.589G>C	c.(589-591)Gtt>Ctt	p.V197L	ADCK1_ENST00000341211.5_Missense_Mutation_p.V129L	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	204	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		TCAGGTGCTCGTTCTGGCTGT	0.507																																						uc001xui.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25						c.(589-591)Gtt>Ctt		Homo sapiens aarF domain containing kinase 1 (ADCK1), transcript variant 1, mRNA.							199.0	173.0	182.0					14																	78365449		2203	4300	6503	SO:0001583	missense	57143					extracellular region	ATP binding|protein serine/threonine kinase activity	g.chr14:78365449G>C	AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.589G>C	14.37:g.78365449G>C	ENSP00000238561:p.Val197Leu		Somatic				ADCK1_uc010tvo.1_Non-coding_Transcript|ADCK1_uc001xuj.3_Missense_Mutation_p.V129L|ADCK1_uc001xuk.1_Missense_Mutation_p.V71L	p.V197L	NM_020421	NP_065154	WXS	Illumina GAIIx	Phase_I	Q86TW2	ADCK1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)	5	688	+			204			Protein kinase.		B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	ENST00000238561.5	37	c.589G>C	CCDS9869.1	.	.	.	.	.	.	.	.	.	.	G	9.947	1.219074	0.22373	.	.	ENSG00000063761	ENST00000238561;ENST00000557501;ENST00000341211	T;T;T	0.52754	0.65;0.65;0.65	5.53	3.59	0.41128	.	0.197485	0.41500	D	0.000864	T	0.28797	0.0714	N	0.16016	0.355	0.27913	N	0.938543	B;B	0.21381	0.055;0.045	B;B	0.31442	0.13;0.128	T	0.26467	-1.0102	10	0.12430	T	0.62	-6.4366	8.7298	0.34491	0.1542:0.2186:0.6272:0.0	.	129;197	Q9UIE6;Q86TW2-2	.;.	L	197;197;129	ENSP00000238561:V197L;ENSP00000451549:V197L;ENSP00000339663:V129L	ENSP00000238561:V197L	V	+	1	0	ADCK1	77435202	0.585000	0.26774	0.907000	0.35723	0.702000	0.40608	0.919000	0.28692	0.711000	0.32018	-1.094000	0.02160	GTT		0.507	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	NM_020421		48	117	0	0	0	1	0	48	117				
SLC25A13	10165	broad.mit.edu	37	7	95822462	95822462	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr7:95822462C>T	ENST00000265631.5	-	6	638	c.502G>A	c.(502-504)Gtg>Atg	p.V168M	SLC25A13_ENST00000542654.1_Missense_Mutation_p.V60M|SLC25A13_ENST00000416240.2_Missense_Mutation_p.V168M			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	168	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TCCCGTTGCACAAAGGCTTGC	0.413																																						uc003uog.4																			0				breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42						c.(502-504)Gtg>Atg		Homo sapiens solute carrier family 25, member 13 (citrin) (SLC25A13), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	L-Aspartic Acid(DB00128)						148.0	131.0	137.0					7																	95822462		2203	4300	6503	SO:0001583	missense	10165				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding	g.chr7:95822462C>T	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.502G>A	7.37:g.95822462C>T	ENSP00000265631:p.Val168Met		Somatic				SLC25A13_uc003uof.4_Missense_Mutation_p.V168M|SLC25A13_uc011kik.2_Missense_Mutation_p.V60M	p.V168M	NM_001160210	NP_001153682	WXS	Illumina GAIIx	Phase_I	Q9UJS0	CMC2_HUMAN	STAD - Stomach adenocarcinoma(171;0.194)		5	693	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		168			EF-hand 4.		O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	37	c.502G>A	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.362202	0.41902	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.79454	-1.27;-1.27;-1.27	5.09	4.21	0.49690	EF-hand-like domain (1);	0.147388	0.44902	N	0.000408	T	0.70587	0.3241	L	0.44542	1.39	0.37895	D	0.93083	B;B;B	0.22211	0.027;0.066;0.066	B;B;B	0.23018	0.043;0.028;0.028	T	0.70037	-0.4982	10	0.36615	T	0.2	-9.3365	13.9251	0.63958	0.0:0.9266:0.0:0.0733	.	60;168;168	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	M	168;168;60	ENSP00000265631:V168M;ENSP00000400101:V168M;ENSP00000440484:V60M	ENSP00000265631:V168M	V	-	1	0	SLC25A13	95660398	0.994000	0.37717	1.000000	0.80357	0.905000	0.53344	1.092000	0.30927	1.513000	0.48852	0.563000	0.77884	GTG		0.413	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		37	55	0	0	0	1	0	37	55				
COL5A3	50509	broad.mit.edu	37	19	10071487	10071487	+	Missense_Mutation	SNP	C	C	T	rs371310005		TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr19:10071487C>T	ENST00000264828.3	-	66	5016	c.4931G>A	c.(4930-4932)cGc>cAc	p.R1644H		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1644	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GAAGTTCTGGCGAGCTGTGGC	0.607																																						uc002mmq.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(4930-4932)cGc>cAc		Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	92.0	81.0	85.0		4931	-3.0	0.0	19		85	0,8600		0,0,4300	no	missense	COL5A3	NM_015719.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	1644/1746	10071487	1,13005	2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10071487C>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.4931G>A	19.37:g.10071487C>T	ENSP00000264828:p.Arg1644His		Somatic					p.R1644H	NM_015719	NP_056534	WXS	Illumina GAIIx	Phase_I	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		65	5017	-			1644			Fibrillar collagen NC1.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.4931G>A	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	0.485	-0.877898	0.02550	2.27E-4	0.0	ENSG00000080573	ENST00000264828	T	0.73681	-0.77	4.03	-2.95	0.05564	Fibrillar collagen, C-terminal (4);	0.747869	0.12083	N	0.501168	T	0.52256	0.1723	N	0.12920	0.275	0.20563	N	0.999889	B	0.06786	0.001	B	0.08055	0.003	T	0.34453	-0.9828	10	0.30854	T	0.27	.	9.8885	0.41276	0.0:0.3105:0.0:0.6895	.	1644	P25940	CO5A3_HUMAN	H	1644	ENSP00000264828:R1644H	ENSP00000264828:R1644H	R	-	2	0	COL5A3	9932487	0.000000	0.05858	0.017000	0.16124	0.039000	0.13416	-2.222000	0.01215	-0.351000	0.08249	0.462000	0.41574	CGC		0.607	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		4	84	0	0	0	1	0	4	84				
TP53BP1	7158	broad.mit.edu	37	15	43712831	43712831	+	Silent	SNP	G	G	T			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr15:43712831G>T	ENST00000263801.3	-	21	4590	c.4338C>A	c.(4336-4338)tcC>tcA	p.S1446S	TP53BP1_ENST00000382044.4_Silent_p.S1451S|TP53BP1_ENST00000450115.2_Silent_p.S1451S|TP53BP1_ENST00000382039.3_Silent_p.S1401S	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1446					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TTCGTCTGGTGGAGTCTGGCA	0.542								Other conserved DNA damage response genes																														uc001zrr.4																			0		p.D1451Y(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(4351-4353)tcC>tcA	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 1, mRNA.							64.0	62.0	62.0					15																	43712831		2201	4298	6499	SO:0001819	synonymous_variant	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding	g.chr15:43712831G>T	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.4338C>A	15.37:g.43712831G>T			Somatic				TP53BP1_uc010udp.2_Silent_p.S1446S|TP53BP1_uc001zrq.4_Silent_p.S1451S|TP53BP1_uc001zrs.3_Silent_p.S1446S|TP53BP1_uc010udq.1_Silent_p.S1451S	p.S1451S	NM_001141980	NP_005648	WXS	Illumina GAIIx	Phase_I	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	20	4466	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	1446					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Silent	SNP	ENST00000263801.3	37	c.4353C>A	CCDS10096.1																																																																																				0.542	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			41	55	0	0	0	1	0	41	55				
OR5K1	26339	broad.mit.edu	37	3	98189173	98189173	+	Missense_Mutation	SNP	C	C	A	rs200710580		TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr3:98189173C>A	ENST00000332650.5	+	1	850	c.753C>A	c.(751-753)ttC>ttA	p.F251L		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTCATTATTCTATGGATCTC	0.343																																						uc003dsm.3																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(751-753)ttC>ttA		Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.							94.0	97.0	96.0					3																	98189173		2182	4293	6475	SO:0001583	missense	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98189173C>A	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"""GPCR / Class A : Olfactory receptors"""	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.753C>A	3.37:g.98189173C>A	ENSP00000373193:p.Phe251Leu		Somatic					p.F251L	NM_001004736	NP_001004736	WXS	Illumina GAIIx	Phase_I	Q8NHB7	OR5K1_HUMAN			0	753	+			251					B9EGY5|Q6IF46	Missense_Mutation	SNP	ENST00000332650.5	37	c.753C>A	CCDS43115.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.296066	0.40594	.	.	ENSG00000232382	ENST00000332650	T	0.00285	8.3	4.56	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43110	D	0.000601	T	0.00300	0.0009	M	0.71296	2.17	0.23758	N	0.996922	B	0.21753	0.06	B	0.34385	0.181	T	0.28299	-1.0048	10	0.54805	T	0.06	-10.4101	7.1147	0.25411	0.0:0.799:0.0:0.201	.	251	Q8NHB7	OR5K1_HUMAN	L	251	ENSP00000373193:F251L	ENSP00000373193:F251L	F	+	3	2	OR5K1	99671863	0.000000	0.05858	1.000000	0.80357	0.859000	0.49053	0.059000	0.14322	1.123000	0.41961	0.563000	0.77884	TTC		0.343	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1			13	36	0	0	0	1	0	13	36				
AVP	551	broad.mit.edu	37	20	3065238	3065238	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr20:3065238C>T	ENST00000380293.3	-	1	132	c.83G>A	c.(82-84)gGc>gAc	p.G28D		NM_000490.4	NP_000481.2	P01185	NEU2_HUMAN	arginine vasopressin	28					cell-cell signaling (GO:0007267)|ERK1 and ERK2 cascade (GO:0070371)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|hyperosmotic salinity response (GO:0042538)|locomotory behavior (GO:0007626)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of female receptivity (GO:0007621)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of renal sodium excretion (GO:0035813)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to testosterone (GO:0033574)|signal transduction (GO:0007165)|social behavior (GO:0035176)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)|water transport (GO:0006833)	cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|neuropeptide hormone activity (GO:0005184)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|signal transducer activity (GO:0004871)|V1A vasopressin receptor binding (GO:0031894)			central_nervous_system(1)|prostate(1)|skin(1)	3				COAD - Colon adenocarcinoma(99;0.00643)		CCTCTTGCCGCCCCTCGGGCA	0.647																																						uc002whu.3																			0				central_nervous_system(1)|prostate(1)|skin(1)	3						c.(82-84)gGc>gAc		Homo sapiens arginine vasopressin (AVP), mRNA.							118.0	110.0	113.0					20																	3065238		2203	4300	6503	SO:0001583	missense	551				ERK1 and ERK2 cascade|cell-cell signaling|generation of precursor metabolites and energy|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|protein kinase C signaling cascade|sodium-independent organic anion transport|transmembrane transport|vasoconstriction|water transport	cytosol|soluble fraction	V1A vasopressin receptor binding|caspase inhibitor activity|neurohypophyseal hormone activity|protein kinase activity|signal transducer activity	g.chr20:3065238C>T	M25647	CCDS13045.1	20p13	2014-09-17	2008-07-31		ENSG00000101200	ENSG00000101200		"""Endogenous ligands"""	894	protein-coding gene	gene with protein product	"""antidiuretic hormone"", ""neurophysin II"", ""diabetes insipidus"", ""neurohypophyseal"", ""prepro-AVP-NP II"", ""prepro-arginine-vasopressin-neurophysin II"""	192340		ARVP		1840604	Standard	NM_000490		Approved	ADH	uc002whu.3	P01185	OTTHUMG00000031733	ENST00000380293.3:c.83G>A	20.37:g.3065238C>T	ENSP00000369647:p.Gly28Asp		Somatic					p.G28D	NM_000490	NP_000481	WXS	Illumina GAIIx	Phase_I	P01185	NEU2_HUMAN		COAD - Colon adenocarcinoma(99;0.00643)	0	133	-			28					A0AV35|O14935	Missense_Mutation	SNP	ENST00000380293.3	37	c.83G>A	CCDS13045.1	.	.	.	.	.	.	.	.	.	.	C	35	5.445266	0.96187	.	.	ENSG00000101200	ENST00000380293	D	0.99901	-7.65	5.46	5.46	0.80206	Neurohypophysial hormone, conserved site (2);	0.000000	0.85682	D	0.000000	D	0.99902	0.9953	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96317	0.9233	10	0.87932	D	0	.	19.3138	0.94204	0.0:1.0:0.0:0.0	.	28	P01185	NEU2_HUMAN	D	28	ENSP00000369647:G28D	ENSP00000369647:G28D	G	-	2	0	AVP	3013238	1.000000	0.71417	0.458000	0.27068	0.973000	0.67179	5.855000	0.69510	2.561000	0.86390	0.655000	0.94253	GGC		0.647	AVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077713.2	NM_000490		7	195	0	0	0	1	0	7	195				
KRTAP12-3	386683	broad.mit.edu	37	21	46078031	46078031	+	Silent	SNP	C	C	T			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr21:46078031C>T	ENST00000397907.1	+	1	183	c.135C>T	c.(133-135)tgC>tgT	p.C45C	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3	45	14 X 5 AA approximate repeats.					keratin filament (GO:0045095)				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GCATTGTGTGCGTGGCTCCCT	0.642																																						uc002zft.3																			0				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(133-135)tgC>tgT		Homo sapiens keratin associated protein 12-3 (KRTAP12-3), mRNA.							95.0	108.0	104.0					21																	46078031		2190	4268	6458	SO:0001819	synonymous_variant	386683					intermediate filament		g.chr21:46078031C>T	AB076361	CCDS42964.1	21q22.3	2006-03-13			ENSG00000205439	ENSG00000205439		"""Keratin associated proteins"""	20531	protein-coding gene	gene with protein product							Standard	NM_198697		Approved	KRTAP12.3	uc002zft.3	P60328	OTTHUMG00000057630	ENST00000397907.1:c.135C>T	21.37:g.46078031C>T			Somatic				TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.C45C	NM_198697	NP_941970	WXS	Illumina GAIIx	Phase_I	P60328	KR123_HUMAN			0	183	+			45			14 X 5 AA approximate repeats.			Silent	SNP	ENST00000397907.1	37	c.135C>T	CCDS42964.1																																																																																				0.642	KRTAP12-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128033.1			6	267	0	0	0	1	0	6	267				
NDUFA9	4704	broad.mit.edu	37	12	4791380	4791380	+	Silent	SNP	G	G	A			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr12:4791380G>A	ENST00000266544.5	+	9	830	c.810G>A	c.(808-810)cgG>cgA	p.R270R	NDUFA9_ENST00000540688.1_5'Flank|RP11-234B24.6_ENST00000544741.2_Silent_p.R29R	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	270					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)|sodium ion transport (GO:0006814)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						GTCCCAGTCGGTACCTCCTTT	0.398																																					Colon(75;996 1244 23946 25294 29232)	uc001qnc.3																			0		p.R270L(1)|p.R270Q(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(808-810)cgG>cgA		Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa (NDUFA9), nuclear gene encoding mitochondrial protein, mRNA.	NADH(DB00157)						249.0	218.0	229.0					12																	4791380		2203	4300	6503	SO:0001819	synonymous_variant	4704				mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr12:4791380G>A	AF050641	CCDS8532.1	12p13.3	2011-09-14	2002-08-29		ENSG00000139180	ENSG00000139180		"""Mitochondrial respiratory chain complex / Complex I"", ""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	7693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 22E, member 1"", ""complex I 39kDa subunit"""	603834	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39kD)"""	NDUFS2L		8486360, 19027726	Standard	NM_005002		Approved	SDR22E1, CI-39k	uc001qnc.3	Q16795		ENST00000266544.5:c.810G>A	12.37:g.4791380G>A			Somatic				NDUFA9_uc010ses.2_Silent_p.R51R	p.R270R	NM_005002	NP_004993	WXS	Illumina GAIIx	Phase_I	Q16795	NDUA9_HUMAN			8	839	+			270					Q14076|Q2NKX0	Silent	SNP	ENST00000266544.5	37	c.810G>A	CCDS8532.1																																																																																				0.398	NDUFA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398900.2	NM_005002		4	152	0	0	0	1	0	4	152				
FOXJ2	55810	broad.mit.edu	37	12	8202170	8202170	+	Intron	SNP	A	A	C			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr12:8202170A>C	ENST00000162391.3	+	9	2682				FOXJ2_ENST00000428177.2_Missense_Mutation_p.T514P	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		GAGCCAAGGTACTGCACCAAG	0.557																																						uc001qtt.1																			0				autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16						c.(1540-1542)Act>Cct		Homo sapiens forkhead box J2 (FOXJ2), mRNA.							28.0	25.0	26.0					12																	8202170		2203	4300	6503	SO:0001627	intron_variant	55810				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr12:8202170A>C	AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"""Forkhead boxes"""	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.1537+3A>C	12.37:g.8202170A>C			Somatic				FOXJ2_uc001qtu.3_Intron	p.T514P	NM_018416	NP_060886	WXS	Illumina GAIIx	Phase_I	Q9P0K8	FOXJ2_HUMAN		Kidney(36;0.0944)	8	2625	+			321					A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	ENST00000162391.3	37	c.1540A>C	CCDS8587.1	.	.	.	.	.	.	.	.	.	.	A	14.03	2.412818	0.42817	.	.	ENSG00000065970	ENST00000428177	D	0.95377	-3.69	5.86	4.73	0.59995	.	.	.	.	.	D	0.90031	0.6887	.	.	.	0.22034	N	0.999401	B	0.16603	0.018	B	0.23018	0.043	T	0.78856	-0.2039	7	.	.	.	.	6.5631	0.22497	0.8328:0.0:0.1672:0.0	.	514	Q9P0K8-2	.	P	514	ENSP00000403411:T514P	.	T	+	1	0	FOXJ2	8093437	0.999000	0.42202	0.987000	0.45799	0.858000	0.48976	2.976000	0.49289	2.240000	0.73641	0.533000	0.62120	ACT		0.557	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416		6	19	0	0	0	1	0	6	19				
SYTL3	94120	broad.mit.edu	37	6	159184419	159184419	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr6:159184419C>G	ENST00000297239.9	+	16	1795	c.1601C>G	c.(1600-1602)tCa>tGa	p.S534*	MIR3918_ENST00000581555.1_RNA|SYTL3_ENST00000360448.3_Nonsense_Mutation_p.S466*|SYTL3_ENST00000367081.3_Nonsense_Mutation_p.S260*			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	534	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		TGGAAACACTCATTTGTCTTC	0.527																																						uc003qrp.3																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20						c.(1600-1602)tCa>tGa		Homo sapiens synaptotagmin-like 3 (SYTL3), transcript variant 1, mRNA.							113.0	104.0	107.0					6																	159184419		2203	4300	6503	SO:0001587	stop_gained	94120				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding	g.chr6:159184419C>G	AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.1601C>G	6.37:g.159184419C>G	ENSP00000297239:p.Ser534*		Somatic				SYTL3_uc003qrr.3_Nonsense_Mutation_p.S534*|SYTL3_uc003qro.3_Nonsense_Mutation_p.S466*|SYTL3_uc003qrs.3_Nonsense_Mutation_p.S466*|SYTL3_uc011efq.2_Nonsense_Mutation_p.S260*	p.S534*	NM_001242384	NP_001229313	WXS	Illumina GAIIx	Phase_I	Q4VX76	SYTL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)	17	2000	+		Breast(66;0.000776)|Ovarian(120;0.0303)	534			C2 2.		Q496J4|Q496J6|Q5U3B9	Nonsense_Mutation	SNP	ENST00000297239.9	37	c.1601C>G	CCDS56458.1	.	.	.	.	.	.	.	.	.	.	C	38	7.158975	0.98103	.	.	ENSG00000164674	ENST00000360448;ENST00000297239;ENST00000367081	.	.	.	5.29	4.36	0.52297	.	0.000000	0.45361	D	0.000361	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	5.3329	0.15942	0.0:0.6637:0.2076:0.1287	.	.	.	.	X	466;534;260	.	ENSP00000297239:S534X	S	+	2	0	SYTL3	159104407	1.000000	0.71417	0.996000	0.52242	0.702000	0.40608	1.971000	0.40530	2.625000	0.88918	0.557000	0.71058	TCA		0.527	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1			35	65	0	0	0	1	0	35	65				
ACTB	60	broad.mit.edu	37	7	5568116	5568116	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr7:5568116A>C	ENST00000331789.5	-	4	789	c.598T>G	c.(598-600)Ttc>Gtc	p.F200V	ACTB_ENST00000464611.1_5'Flank|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	200					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GTGGTGGTGAAGCTGTAGCCG	0.622																																						uc003sot.4																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8						c.(598-600)Ttc>Gtc		Homo sapiens actin, beta (ACTB), mRNA.							59.0	59.0	59.0					7																	5568116		2203	4300	6503	SO:0001583	missense	60				'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	MLL5-L complex|NuA4 histone acetyltransferase complex|cytoskeleton|cytosol|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton	g.chr7:5568116A>C	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.598T>G	7.37:g.5568116A>C	ENSP00000349960:p.Phe200Val		Somatic				ACTB_uc003sor.4_Missense_Mutation_p.F78V|ACTB_uc003soq.4_Missense_Mutation_p.F78V	p.F200V	NM_001101	NP_001092	WXS	Illumina GAIIx	Phase_I	P60709	ACTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)	3	682	-		Ovarian(82;0.0606)	200					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000331789.5	37	c.598T>G	CCDS5341.1	.	.	.	.	.	.	.	.	.	.	A	17.96	3.516425	0.64634	.	.	ENSG00000075624	ENST00000331789;ENST00000445914;ENST00000400179;ENST00000320713	D	0.94758	-3.51	5.55	5.55	0.83447	.	0.092093	0.46758	D	0.000278	D	0.98115	0.9378	M	0.93241	3.395	0.52099	D	0.999949	P	0.36249	0.545	D	0.66602	0.945	D	0.98784	1.0733	10	0.87932	D	0	.	13.6936	0.62564	1.0:0.0:0.0:0.0	.	200	P60709	ACTB_HUMAN	V	200;176;172;119	ENSP00000349960:F200V	ENSP00000440549:F119V	F	-	1	0	ACTB	5534642	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	8.991000	0.93514	2.114000	0.64651	0.529000	0.55759	TTC		0.622	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101		43	55	0	0	0	1	0	43	55				
ANKRD54	129138	broad.mit.edu	37	22	38240354	38240357	+	5'UTR	DEL	GGGC	GGGC	-			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr22:38240354_38240357delGGGC	ENST00000215941.4	-	0	81_84				MIR658_ENST00000385210.1_RNA|ANKRD54_ENST00000411961.2_5'Flank|ANKRD54_ENST00000406423.1_5'Flank|ANKRD54_ENST00000609454.1_Intron	NM_138797.2	NP_620152.1	Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54						nucleocytoplasmic transport (GO:0006913)|positive regulation of erythrocyte differentiation (GO:0045648)|regulation of intracellular signal transduction (GO:1902531)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	protein kinase regulator activity (GO:0019887)			lung(1)	1	Melanoma(58;0.045)					CGGGCGGGCAGGGCCCGCAACCAC	0.686																																						uc003auc.3																			0				lung(1)	1						c.e1-1		Homo sapiens ankyrin repeat domain 54 (ANKRD54), transcript variant 1, mRNA.																																				SO:0001623	5_prime_UTR_variant	129138							g.chr22:38240354_38240357delGGGC	BC014641	CCDS13959.1	22q13.1	2013-01-10			ENSG00000100124	ENSG00000100124		"""Ankyrin repeat domain containing"""	25185	protein-coding gene	gene with protein product		613383				15461802	Standard	NM_138797		Approved	LIAR	uc003auc.3	Q6NXT1	OTTHUMG00000150663	ENST00000215941.4:c.-112GCCC>-	22.37:g.38240354_38240357delGGGC			Somatic				ANKRD54_uc003aud.3_Splice_Site|ANKRD54_uc021wpj.1_Non-coding_Transcript		NM_138797	NP_620152	WXS	Illumina GAIIx	Phase_I	Q6NXT1	ANR54_HUMAN			1	1	-	Melanoma(58;0.045)							Q6ZSB1|Q9UGV1	Splice_Site	DEL	ENST00000215941.4	37	c.-107_splice	CCDS13959.1																																																																																				0.686	ANKRD54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319490.1	NM_138797		8	8						8	8	---	---	---	---
