#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
TRIOBP	11078	broad.mit.edu	37	22	38121491	38121491	+	Silent	SNP	C	C	T			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr22:38121491C>T	ENST00000406386.3	+	7	3183	c.2928C>T	c.(2926-2928)gcC>gcT	p.A976A		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	976					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CATCCCGGGCCACCTCTTCCT	0.637																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(2926-2928)gcC>gcT		TRIO and F-actin binding protein							125.0	147.0	140.0					22																	38121491		2058	4185	6243	SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38121491C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2928C>T	22.37:g.38121491C>T						RP1-37E16.12_ENST00000455236.1_RNA	p.A976A	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	3183	+	Melanoma(58;0.0574)		976					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.2928C>T	CCDS43015.1																																																																																				0.637	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			5	284	0	0	0	1	0	5	284				
CMTR1	23070	broad.mit.edu	37	6	37426394	37426394	+	Silent	SNP	C	C	T			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr6:37426394C>T	ENST00000373451.4	+	9	948	c.784C>T	c.(784-786)Ctg>Ttg	p.L262L		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	262	RrmJ-type SAM-dependent 2'-O-MTase. {ECO:0000255|PROSITE-ProRule:PRU00945}.				7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)										GCAGAAGCCACTGGTGAAGGA	0.522																																						ENST00000373451.4																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						c.(784-786)Ctg>Ttg									57.0	52.0	54.0					6																	37426394		2203	4300	6503	SO:0001819	synonymous_variant	0				mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding	g.chr6:37426394C>T	BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"""G patch domain containing"""	21077	protein-coding gene	gene with protein product			"""KIAA0082"", ""FtsJ methyltransferase domain containing 2"""	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.784C>T	6.37:g.37426394C>T							p.L262L	NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN			9	948	+			262					A8K949|Q14670|Q96FJ9	Silent	SNP	ENST00000373451.4	37	c.784C>T	CCDS4835.1																																																																																				0.522	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1	NM_015050		13	22	0	0	0	1	0	13	22				
CHAMP1	283489	broad.mit.edu	37	13	115090966	115090966	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr13:115090966T>C	ENST00000361283.1	+	3	1958	c.1649T>C	c.(1648-1650)cTt>cCt	p.L550P		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	550	Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										AAACGTGCCCTTTTTCCAGAG	0.517																																						ENST00000361283.1																			0											c.(1648-1650)cTt>cCt		chromosome alignment maintaining phosphoprotein 1							211.0	240.0	230.0					13																	115090966		2203	4300	6503	SO:0001583	missense	283489				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	g.chr13:115090966T>C	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"""Zinc fingers, C2H2-type"""	20311	protein-coding gene	gene with protein product	"""chromosome alignment-maintaining phosphoprotein"""		"""chromosome 13 open reading frame 8"", ""zinc finger protein 828"""	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.1649T>C	13.37:g.115090966T>C	ENSP00000354730:p.Leu550Pro						p.L550P	NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN			3	1958	+			550			Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.		B3KU06|Q6P181|Q8NC88|Q9BST0	Missense_Mutation	SNP	ENST00000361283.1	37	c.1649T>C	CCDS9545.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.020892	0.54576	.	.	ENSG00000198824	ENST00000361283	T	0.01902	4.57	5.59	5.59	0.84812	.	0.000000	0.51477	D	0.000081	T	0.07188	0.0182	M	0.65498	2.005	0.58432	D	0.999996	P	0.51537	0.946	P	0.51777	0.679	T	0.19257	-1.0311	9	.	.	.	-17.4144	14.3423	0.66636	0.0:0.0:0.0:1.0	.	550	Q96JM3	ZN828_HUMAN	P	550	ENSP00000354730:L550P	.	L	+	2	0	ZNF828	114109068	0.995000	0.38212	0.981000	0.43875	0.990000	0.78478	3.159000	0.50731	2.126000	0.65437	0.528000	0.53228	CTT		0.517	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		4	328	0	0	0	1	0	4	328				
NFYC	4802	broad.mit.edu	37	1	41204550	41204550	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr1:41204550G>A	ENST00000308733.5	+	1	41	c.35G>A	c.(34-36)aGc>aAc	p.S12N	NFYC_ENST00000440226.3_Missense_Mutation_p.S12N|NFYC_ENST00000372652.1_Missense_Mutation_p.S12N|NFYC_ENST00000447388.3_Missense_Mutation_p.S12N|NFYC_ENST00000425457.2_Missense_Mutation_p.S12N|NFYC_ENST00000456393.2_Missense_Mutation_p.S12N|NFYC_ENST00000427410.2_Missense_Mutation_p.S12N|NFYC_ENST00000372651.1_Missense_Mutation_p.S12N|NFYC_ENST00000372654.1_Missense_Mutation_p.S12N|NFYC_ENST00000372653.1_Missense_Mutation_p.S12N			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	12					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			GGTACTAGCAGCAGTGATGCC	0.418																																						ENST00000372652.1																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15						c.(34-36)aGc>aAc		nuclear transcription factor Y, gamma							123.0	122.0	122.0					1																	41204550		2203	4300	6503	SO:0001583	missense	4802				protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:41204550G>A	U78774	CCDS455.1, CCDS44120.1, CCDS44121.1, CCDS44122.1, CCDS44123.1	1p32	2008-11-11			ENSG00000066136	ENSG00000066136			7806	protein-coding gene	gene with protein product		605344				8921405, 9249075	Standard	NM_014223		Approved	CBF-C, NF-YC	uc009vwd.3	Q13952	OTTHUMG00000007729	ENST00000308733.5:c.35G>A	1.37:g.41204550G>A	ENSP00000312617:p.Ser12Asn					NFYC_ENST00000427410.2_Missense_Mutation_p.S12N|NFYC_ENST00000425457.2_Missense_Mutation_p.S12N|NFYC_ENST00000447388.3_Missense_Mutation_p.S12N|NFYC_ENST00000372653.1_Missense_Mutation_p.S12N|NFYC_ENST00000372654.1_Missense_Mutation_p.S12N|NFYC_ENST00000372651.1_Missense_Mutation_p.S12N|NFYC_ENST00000308733.5_Missense_Mutation_p.S12N|NFYC_ENST00000440226.3_Missense_Mutation_p.S12N|NFYC_ENST00000456393.2_Missense_Mutation_p.S12N	p.S12N			Q13952	NFYC_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)		2	303	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	12					B4DUS6|B4DW63|D3DPV9|F8VWM3|Q59GY4|Q5T6K8|Q5T6K9|Q5T6L1|Q5TZR6|Q92869|Q9HBX1|Q9NXB5|Q9UM67|Q9UML0|Q9UMT7	Missense_Mutation	SNP	ENST00000308733.5	37	c.35G>A		.	.	.	.	.	.	.	.	.	.	G	18.29	3.590598	0.66219	.	.	ENSG00000066136	ENST00000427410;ENST00000447388;ENST00000425457;ENST00000453631;ENST00000456393;ENST00000372654;ENST00000534399;ENST00000372653;ENST00000372669;ENST00000372652;ENST00000372651;ENST00000531464;ENST00000440226;ENST00000525290;ENST00000530965;ENST00000416859;ENST00000308733	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.47177	0.85;1.46;1.45;0.89;1.48;1.46;1.5;2.46;1.47;1.46;1.46;0.89;0.88;1.42	5.93	5.93	0.95920	Histone-fold (1);	0.207942	0.64402	D	0.000014	T	0.34019	0.0883	N	0.11927	0.2	0.45541	D	0.99849	B;B;B;B;B;B;B;B	0.32245	0.065;0.018;0.361;0.039;0.275;0.065;0.065;0.281	B;B;B;B;B;B;B;B	0.30646	0.038;0.025;0.118;0.01;0.076;0.038;0.038;0.075	T	0.24190	-1.0167	10	0.59425	D	0.04	.	17.8477	0.88736	0.0:0.0:1.0:0.0	.	12;12;12;12;12;12;12;12	B4DW63;B4DVS8;Q13952;Q5T6K9;Q13952-3;F8VWM3;Q13952-2;B4DUS6	.;.;NFYC_HUMAN;.;.;.;.;.	N	12	ENSP00000408315:S12N;ENSP00000404427:S12N;ENSP00000396620:S12N;ENSP00000397647:S12N;ENSP00000408867:S12N;ENSP00000361738:S12N;ENSP00000361737:S12N;ENSP00000361754:S12N;ENSP00000361736:S12N;ENSP00000361734:S12N;ENSP00000414299:S12N;ENSP00000436710:S12N;ENSP00000409219:S12N;ENSP00000312617:S12N	ENSP00000312617:S12N	S	+	2	0	NFYC	40977137	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.446000	0.60014	2.826000	0.97356	0.655000	0.94253	AGC		0.418	NFYC-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000020802.1	NM_014223		3	65	0	0	0	1	0	3	65				
UBBP4	23666	broad.mit.edu	37	17	21731270	21731270	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr17:21731270T>C	ENST00000584755.1	+	2	969	c.572T>C	c.(571-573)aTc>aCc	p.I191T	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron					ubiquitin B pseudogene 4									p.I191T(3)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						ATCCCCCCGATCAGCAGAGGC	0.547																																						ENST00000584755.1																			3	Substitution - Missense(3)	p.I191T(3)	kidney(2)|endometrium(1)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(571-573)aTc>aCc																																						SO:0001583	missense	0							g.chr17:21731270T>C	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000584755.1:c.572T>C	17.37:g.21731270T>C	ENSP00000463647:p.Ile191Thr					UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron	p.I191T							2	969	+									Missense_Mutation	SNP	ENST00000584755.1	37	c.572T>C																																																																																					0.547	UBBP4-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000444585.1			3	74	0	0	0	1	0	3	74				
POMC	5443	broad.mit.edu	37	2	25384212	25384212	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr2:25384212G>A	ENST00000405623.1	-	3	997	c.542C>T	c.(541-543)aCt>aTt	p.T181I	POMC_ENST00000264708.3_Missense_Mutation_p.T181I|POMC_ENST00000380794.1_Missense_Mutation_p.T181I|POMC_ENST00000395826.2_Missense_Mutation_p.T181I|RP11-509E16.1_ENST00000567599.1_lincRNA			P01189	COLI_HUMAN	proopiomelanocortin	181					cell-cell signaling (GO:0007267)|cellular pigmentation (GO:0033059)|cellular protein metabolic process (GO:0044267)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|negative regulation of tumor necrosis factor production (GO:0032720)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of appetite (GO:0032098)|regulation of blood pressure (GO:0008217)|regulation of corticosterone secretion (GO:2000852)|regulation of glycogen metabolic process (GO:0070873)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|peroxisomal matrix (GO:0005782)|secretory granule (GO:0030141)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|hormone activity (GO:0005179)|receptor binding (GO:0005102)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Loperamide(DB00836)	TCGCTGGCCAGTCAGCTCCCT	0.711																																					Colon(110;1515 1566 8452 10082 43216)	ENST00000405623.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(541-543)aCt>aTt		proopiomelanocortin	Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)						12.0	12.0	12.0					2																	25384212		2199	4293	6492	SO:0001583	missense	5443				cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding	g.chr2:25384212G>A		CCDS1717.1	2p23	2013-02-25	2008-07-31		ENSG00000115138	ENSG00000115138		"""Endogenous ligands"""	9201	protein-coding gene	gene with protein product	"""adrenocorticotropin"", ""beta-lipotropin"", ""alpha-melanocyte stimulating hormone"", ""beta-melanocyte stimulating hormone"", ""beta-endorphin"", ""adrenocorticotropic hormone"", ""opiomelanocortin prepropeptide"""	176830				6254047, 9620771	Standard	NM_001035256		Approved	MSH, POC, CLIP, ACTH, NPP, LPH	uc002rfz.1	P01189	OTTHUMG00000094764	ENST00000405623.1:c.542C>T	2.37:g.25384212G>A	ENSP00000384092:p.Thr181Ile					POMC_ENST00000395826.2_Missense_Mutation_p.T181I|POMC_ENST00000380794.1_Missense_Mutation_p.T181I|POMC_ENST00000264708.3_Missense_Mutation_p.T181I	p.T181I			P01189	COLI_HUMAN			3	997	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		181					P78442|Q53T23|Q9UD39|Q9UD40	Missense_Mutation	SNP	ENST00000405623.1	37	c.542C>T	CCDS1717.1	.	.	.	.	.	.	.	.	.	.	G	5.872	0.344982	0.11126	.	.	ENSG00000115138	ENST00000380794;ENST00000405623;ENST00000264708;ENST00000395826;ENST00000449220	T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19	4.62	2.74	0.32292	.	1.143940	0.06425	N	0.723101	T	0.76586	0.4008	L	0.58101	1.795	0.09310	N	1	B	0.15930	0.015	B	0.16289	0.015	T	0.63937	-0.6524	10	0.87932	D	0	-18.3092	11.8913	0.52630	0.0:0.0:0.6724:0.3276	.	181	P01189	COLI_HUMAN	I	181	ENSP00000370171:T181I;ENSP00000384092:T181I;ENSP00000264708:T181I;ENSP00000379170:T181I;ENSP00000387993:T181I	ENSP00000264708:T181I	T	-	2	0	POMC	25237716	0.034000	0.19679	0.101000	0.21167	0.027000	0.11550	1.476000	0.35420	0.336000	0.23639	-0.475000	0.04921	ACT		0.711	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211573.3	NM_001035256		3	10	0	0	0	1	0	3	10				
C3orf79	152118	broad.mit.edu	37	3	153202433	153202433	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr3:153202433A>C	ENST00000446603.2	+	1	150	c.88A>C	c.(88-90)Act>Cct	p.T30P	RP11-23D24.2_ENST00000493214.2_RNA	NM_001101337.1	NP_001094807.1	P0CE67	CC079_HUMAN	chromosome 3 open reading frame 79	30										endometrium(1)|large_intestine(3)	4						TCTTCTGCCTACTCCTGAGCT	0.433																																						ENST00000446603.2																			0				endometrium(1)|large_intestine(3)	4						c.(88-90)Act>Cct		chromosome 3 open reading frame 79							277.0	263.0	268.0					3																	153202433		1923	4141	6064	SO:0001583	missense	152118							g.chr3:153202433A>C	AF086445	CCDS46937.1	3q25.2	2009-09-30			ENSG00000237787	ENSG00000237787			37259	protein-coding gene	gene with protein product							Standard	NM_001101337		Approved		uc003ezt.3	P0CE67	OTTHUMG00000159629	ENST00000446603.2:c.88A>C	3.37:g.153202433A>C	ENSP00000389475:p.Thr30Pro					RP11-23D24.2_ENST00000493214.2_RNA	p.T30P	NM_001101337.1	NP_001094807.1	P0CE67	CC079_HUMAN			1	150	+			30						Missense_Mutation	SNP	ENST00000446603.2	37	c.88A>C	CCDS46937.1	.	.	.	.	.	.	.	.	.	.	A	9.449	1.089976	0.20390	.	.	ENSG00000237787	ENST00000446603	.	.	.	3.23	-4.39	0.03611	.	.	.	.	.	T	0.14570	0.0352	N	0.08118	0	0.09310	N	1	B	0.24258	0.1	B	0.24848	0.056	T	0.21930	-1.0231	8	0.87932	D	0	.	1.3829	0.02234	0.2713:0.1752:0.382:0.1715	.	30	P0CE67	CC079_HUMAN	P	30	.	ENSP00000389475:T30P	T	+	1	0	C3orf79	154685123	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.559000	0.05971	-0.931000	0.03746	0.533000	0.62120	ACT		0.433	C3orf79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356570.1	NM_001101337		124	154	0	0	0	1	0	124	154				
INO80	54617	broad.mit.edu	37	15	41272519	41272519	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr15:41272519G>T	ENST00000361937.3	-	36	4997	c.4573C>A	c.(4573-4575)Cct>Act	p.P1525T	INO80_ENST00000401393.3_Missense_Mutation_p.P1525T			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1525	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GGATTCCCAGGAACATTATTT	0.557																																						ENST00000361937.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(4573-4575)Cct>Act		INO80 complex subunit							106.0	105.0	105.0					15																	41272519		2203	4300	6503	SO:0001583	missense	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41272519G>T	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.4573C>A	15.37:g.41272519G>T	ENSP00000355205:p.Pro1525Thr					INO80_ENST00000401393.3_Missense_Mutation_p.P1525T	p.P1525T			Q9ULG1	INO80_HUMAN			36	4997	-			1525			Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.		A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	c.4573C>A	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.321142	0.23994	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.90261	-2.64;-2.64	5.4	5.4	0.78164	.	0.323200	0.33253	N	0.005118	T	0.78585	0.4306	N	0.08118	0	0.32477	N	0.542041	B	0.23058	0.079	B	0.16289	0.015	T	0.76512	-0.2932	10	0.44086	T	0.13	.	7.9123	0.29798	0.1303:0.0:0.8697:0.0	.	1525	Q9ULG1	INO80_HUMAN	T	1525	ENSP00000355205:P1525T;ENSP00000384686:P1525T	ENSP00000355205:P1525T	P	-	1	0	INO80	39059811	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.262000	0.51538	2.814000	0.96858	0.655000	0.94253	CCT		0.557	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		29	43	1	0	5.61819e-17	1	6.86667e-17	29	43				
FOXA1	3169	broad.mit.edu	37	14	38061229	38061229	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr14:38061229A>C	ENST00000250448.2	-	2	821	c.760T>G	c.(760-762)Ttc>Gtc	p.F254V	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.F221V	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	254					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CCGTTCTCGAACATGTTGCCG	0.692																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(760-762)Ttc>Gtc		forkhead box A1							25.0	25.0	25.0					14																	38061229		2203	4300	6503	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061229A>C	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.760T>G	14.37:g.38061229A>C	ENSP00000250448:p.Phe254Val					FOXA1_ENST00000540786.1_Missense_Mutation_p.F221V|FOXA1_ENST00000545425.2_5'UTR	p.F254V	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	821	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		254					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.760T>G	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.568050	0.86439	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.95918	-3.85;-3.85	3.92	3.92	0.45320	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.97682	0.9240	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98179	1.0456	10	0.87932	D	0	.	11.8486	0.52399	1.0:0.0:0.0:0.0	.	254	P55317	FOXA1_HUMAN	V	254;221	ENSP00000250448:F254V;ENSP00000440178:F221V	ENSP00000250448:F254V	F	-	1	0	FOXA1	37130980	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.933000	0.92911	1.648000	0.50643	0.329000	0.21502	TTC		0.692	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			10	16	0	0	0	1	0	10	16				
HLA-DRA	3122	broad.mit.edu	37	6	32411650	32411650	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr6:32411650G>A	ENST00000374982.5	+	4	726	c.653G>A	c.(652-654)cGc>cAc	p.R218H	HLA-DRA_ENST00000395388.2_Missense_Mutation_p.R243H			P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	243					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002504)|cognition (GO:0050890)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|polysaccharide assembly with MHC class II protein complex (GO:0002506)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						AAGGGATTGCGCAAAAGCAAT	0.537									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of																													ENST00000395388.2																			0				NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						c.(727-729)cGc>cAc		major histocompatibility complex, class II, DR alpha							141.0	127.0	132.0					6																	32411650		1511	2709	4220	SO:0001583	missense	3122	T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32411650G>A		CCDS4750.1	6p21.3	2013-01-11			ENSG00000204287	ENSG00000204287		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4947	protein-coding gene	gene with protein product		142860		HLA-DRA1			Standard	NM_019111		Approved		uc003obh.3	P01903	OTTHUMG00000031269	ENST00000374982.5:c.653G>A	6.37:g.32411650G>A	ENSP00000364121:p.Arg218His					HLA-DRA_ENST00000374982.5_Missense_Mutation_p.R218H	p.R243H	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN			4	837	+			243					A2BET4|Q30160|Q6IAZ1|Q861I2|Q9TP70	Missense_Mutation	SNP	ENST00000374982.5	37	c.728G>A		.	.	.	.	.	.	.	.	.	.	.	13.43	2.234638	0.39498	.	.	ENSG00000204287	ENST00000395388;ENST00000374982	T;T	0.02258	4.37;4.64	5.36	-0.67	0.11384	.	0.860159	0.10129	N	0.712374	T	0.01124	0.0037	M	0.62016	1.91	0.09310	N	1	B;B	0.14012	0.007;0.009	B;B	0.12156	0.005;0.007	T	0.39461	-0.9613	10	0.62326	D	0.03	.	9.3498	0.38131	0.418:0.0:0.582:0.0	.	218;243	Q30118;P01903	.;DRA_HUMAN	H	243;218	ENSP00000378786:R243H;ENSP00000364121:R218H	ENSP00000364121:R218H	R	+	2	0	HLA-DRA	32519628	0.073000	0.21202	0.001000	0.08648	0.208000	0.24298	0.665000	0.25083	-0.333000	0.08476	0.573000	0.79308	CGC		0.537	HLA-DRA-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000076587.3	NM_019111		39	46	0	0	0	1	0	39	46				
POM121L12	285877	broad.mit.edu	37	7	53104151	53104151	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr7:53104151G>A	ENST00000408890.4	+	1	803	c.787G>A	c.(787-789)Gcc>Acc	p.A263T		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	263										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGCCCCATCCGCCATCTGGGA	0.662																																						ENST00000408890.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(787-789)Gcc>Acc		POM121 transmembrane nucleoporin-like 12							49.0	55.0	53.0					7																	53104151		2014	4176	6190	SO:0001583	missense	285877							g.chr7:53104151G>A		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.787G>A	7.37:g.53104151G>A	ENSP00000386133:p.Ala263Thr						p.A263T	NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN			1	803	+			263					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.787G>A	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381964	0.42207	.	.	ENSG00000221900	ENST00000408890	T	0.30714	1.52	2.16	-0.192	0.13248	.	.	.	.	.	T	0.10766	0.0263	N	0.08118	0	0.09310	N	1	P	0.37997	0.614	B	0.23275	0.045	T	0.15723	-1.0427	9	0.72032	D	0.01	.	4.2117	0.10514	0.5664:0.0:0.4336:0.0	.	263	Q8N7R1	P1L12_HUMAN	T	263	ENSP00000386133:A263T	ENSP00000386133:A263T	A	+	1	0	POM121L12	53071645	0.007000	0.16637	0.000000	0.03702	0.004000	0.04260	1.338000	0.33873	-0.041000	0.13558	0.561000	0.74099	GCC		0.662	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		53	34	0	0	0	1	0	53	34				
CNTN3	5067	broad.mit.edu	37	3	74474079	74474079	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr3:74474079A>T	ENST00000263665.6	-	4	398	c.371T>A	c.(370-372)tTt>tAt	p.F124Y		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	124	Ig-like C2-type 2.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TTTGGTTTTAAAATTTTCAAG	0.398																																						ENST00000263665.6																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(370-372)tTt>tAt		contactin 3 (plasmacytoma associated)							50.0	49.0	49.0					3																	74474079		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74474079A>T	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.371T>A	3.37:g.74474079A>T	ENSP00000263665:p.Phe124Tyr						p.F124Y	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	4	398	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	124			Ig-like C2-type 2.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.371T>A	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.518138	0.85495	.	.	ENSG00000113805	ENST00000263665	T	0.76448	-1.02	4.98	4.98	0.66077	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.127542	0.56097	D	0.000029	D	0.89259	0.6664	H	0.95539	3.685	0.50171	D	0.999855	P	0.52061	0.95	P	0.56343	0.796	D	0.91991	0.5603	10	0.72032	D	0.01	.	12.9418	0.58350	1.0:0.0:0.0:0.0	.	124	Q9P232	CNTN3_HUMAN	Y	124	ENSP00000263665:F124Y	ENSP00000263665:F124Y	F	-	2	0	CNTN3	74556769	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.006000	0.63978	2.005000	0.58758	0.448000	0.29417	TTT		0.398	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		8	11	0	0	0	1	0	8	11				
NAV2	89797	broad.mit.edu	37	11	19735327	19735327	+	Missense_Mutation	SNP	C	C	A	rs374708050		TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr11:19735327C>A	ENST00000396087.3	+	1	185	c.86C>A	c.(85-87)cCg>cAg	p.P29Q	NAV2_ENST00000360655.4_Intron|RP11-359E10.1_ENST00000603468.1_lincRNA|NAV2_ENST00000349880.4_Missense_Mutation_p.P29Q|NAV2_ENST00000396085.1_Missense_Mutation_p.P29Q	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	29					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CACGTgcccccggcccgggcg	0.657																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(85-87)cCg>cAg		neuron navigator 2							19.0	21.0	20.0					11																	19735327		2195	4287	6482	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:19735327C>A	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.86C>A	11.37:g.19735327C>A	ENSP00000379396:p.Pro29Gln					NAV2_ENST00000396087.3_Missense_Mutation_p.P29Q|NAV2_ENST00000360655.4_Intron|NAV2_ENST00000349880.4_Missense_Mutation_p.P29Q	p.P29Q	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			1	447	+			29					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.86C>A	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.172636	0.57584	.	.	ENSG00000166833	ENST00000396085;ENST00000349880;ENST00000396087	T;T;T	0.59502	0.26;0.26;0.26	5.37	4.36	0.52297	.	0.466193	0.19644	N	0.109391	T	0.36138	0.0956	N	0.08118	0	0.80722	D	1	B	0.30542	0.284	B	0.32762	0.152	T	0.19943	-1.0290	9	.	.	.	.	12.3205	0.54981	0.0:0.884:0.0:0.116	.	29	Q8IVL1-3	.	Q	29	ENSP00000379394:P29Q;ENSP00000309577:P29Q;ENSP00000379396:P29Q	.	P	+	2	0	NAV2	19691903	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.805000	0.47939	2.520000	0.84964	0.561000	0.74099	CCG		0.657	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		9	16	1	0	0.000274275	1	0.00030786	9	16				
NETO1	81832	broad.mit.edu	37	18	70461444	70461444	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr18:70461444C>A	ENST00000327305.6	-	6	1204	c.547G>T	c.(547-549)Gtg>Ttg	p.V183L	NETO1_ENST00000583169.1_Missense_Mutation_p.V183L|NETO1_ENST00000299430.2_Missense_Mutation_p.V182L	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	183	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		ATAGACTCCACAATTCCTTCG	0.433																																						ENST00000327305.6																			0				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63						c.(547-549)Gtg>Ttg		neuropilin (NRP) and tolloid (TLL)-like 1							124.0	114.0	117.0					18																	70461444		2203	4300	6503	SO:0001583	missense	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70461444C>A	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.547G>T	18.37:g.70461444C>A	ENSP00000313088:p.Val183Leu					NETO1_ENST00000299430.2_Missense_Mutation_p.V182L|NETO1_ENST00000583169.1_Missense_Mutation_p.V183L	p.V183L	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	6	1204	-		Esophageal squamous(42;0.129)	183			CUB 2.		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.547G>T	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069509	0.55539	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.34667	1.35;1.35	5.29	5.29	0.74685	CUB (4);	0.123437	0.36167	N	0.002752	T	0.34337	0.0894	L	0.50333	1.59	0.80722	D	1	B;B	0.23891	0.093;0.025	B;B	0.27715	0.082;0.057	T	0.10613	-1.0622	10	0.38643	T	0.18	-17.7823	12.3093	0.54920	0.0:0.9222:0.0:0.0778	.	182;183	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	L	183;182	ENSP00000313088:V183L;ENSP00000299430:V182L	ENSP00000299430:V182L	V	-	1	0	NETO1	68612424	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.465000	0.60141	2.462000	0.83206	0.655000	0.94253	GTG		0.433	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		3	58	1	0	1	1	1	3	58				
GAS8	2622	broad.mit.edu	37	16	90095617	90095617	+	Intron	SNP	G	G	C			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr16:90095617G>C	ENST00000268699.4	+	2	212				C16orf3_ENST00000408886.2_Missense_Mutation_p.A45G|GAS8_ENST00000540721.1_Intron|GAS8_ENST00000536122.1_Intron	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		tacggggcaggctacggggca	0.677																																						ENST00000408886.2																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(133-135)gCc>gGc		chromosome 16 open reading frame 3							25.0	28.0	27.0					16																	90095617		2197	4300	6497	SO:0001627	intron_variant	750							g.chr16:90095617G>C	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.90+1487G>C	16.37:g.90095617G>C						GAS8_ENST00000268699.4_Intron|GAS8_ENST00000540721.1_Intron|GAS8_ENST00000536122.1_Intron	p.A45G	NM_001214.3	NP_001205.3	O95177	CP003_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	1	692	-		all_cancers(9;9.01e-08)|Hepatocellular(780;0.000325)|Lung NSC(15;0.0104)|all_lung(18;0.0239)	45					B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	c.134C>G	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	g	4.286	0.052237	0.08291	.	.	ENSG00000221819	ENST00000408886	T	0.57273	0.41	.	.	.	.	.	.	.	.	T	0.33702	0.0872	N	0.08118	0	0.09310	N	1	P	0.41597	0.756	P	0.48114	0.567	T	0.23583	-1.0184	6	.	.	.	.	.	.	.	.	53	O95177	CP003_HUMAN	G	45	ENSP00000386218:A45G	.	A	-	2	0	C16orf3	88623118	.	.	0.002000	0.10522	0.041000	0.13682	.	.	-0.503000	0.06586	0.074000	0.15403	GCC		0.677	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			3	9	0	0	0	1	0	3	9				
TPTE2P6	374491	broad.mit.edu	37	13	25168501	25168501	+	RNA	SNP	G	G	A	rs4770716	byFrequency	TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr13:25168501G>A	ENST00000453498.1	+	0	1173				TPTE2P6_ENST00000440905.1_RNA																							TTTTCTCTTCGGTGAGTAATC	0.388													.|||	851	0.169928	0.1914	0.183	5008	,	,		15991	0.0982		0.2634	False		,,,				2504	0.1094					ENST00000453498.1																			0																																																			0							g.chr13:25168501G>A																													13.37:g.25168501G>A														0	1173	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.388	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			3	50	0	0	0	1	0	3	50				
VPS33B	26276	broad.mit.edu	37	15	91549633	91549633	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr15:91549633C>A	ENST00000333371.3	-	11	1174	c.821G>T	c.(820-822)aGc>aTc	p.S274I	VPS33B_ENST00000535906.1_Missense_Mutation_p.S247I|VPS33B_ENST00000535843.1_Missense_Mutation_p.S183I	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	274					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					CACCTTCAGGCTCTTGTCAGA	0.562																																						ENST00000333371.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16						c.(820-822)aGc>aTc		vacuolar protein sorting 33 homolog B (yeast)							102.0	99.0	100.0					15																	91549633		2198	4298	6496	SO:0001583	missense	26276				cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding	g.chr15:91549633C>A	AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"""vacuolar protein sorting 33B (yeast homolog)"""			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.821G>T	15.37:g.91549633C>A	ENSP00000327650:p.Ser274Ile					VPS33B_ENST00000535906.1_Missense_Mutation_p.S247I|VPS33B_ENST00000535843.1_Missense_Mutation_p.S183I	p.S274I	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN			11	1174	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		274					B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Missense_Mutation	SNP	ENST00000333371.3	37	c.821G>T	CCDS10369.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.151671	0.78001	.	.	ENSG00000184056	ENST00000333371;ENST00000535906;ENST00000535843;ENST00000537510	T;T;T	0.77098	-1.07;-1.07;-1.07	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.77478	0.4136	L	0.50333	1.59	0.80722	D	1	B;P	0.34562	0.402;0.457	B;B	0.40901	0.295;0.343	T	0.75819	-0.3183	10	0.40728	T	0.16	-16.9692	17.0004	0.86380	0.0:1.0:0.0:0.0	.	247;274	F5H008;Q9H267	.;VP33B_HUMAN	I	274;247;183;229	ENSP00000327650:S274I;ENSP00000444053:S247I;ENSP00000446267:S183I	ENSP00000327650:S274I	S	-	2	0	VPS33B	89350637	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.789000	0.62446	2.776000	0.95493	0.655000	0.94253	AGC		0.562	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313496.1	NM_018668		4	106	1	0	1	1	1	4	106				
CEP41	95681	broad.mit.edu	37	7	130042551	130042551	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr7:130042551C>A	ENST00000223208.5	-	7	782	c.512G>T	c.(511-513)tGc>tTc	p.C171F	CEP41_ENST00000343969.5_Missense_Mutation_p.C171F|CEP41_ENST00000541543.1_Missense_Mutation_p.C155F	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	171	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein polyglutamylation (GO:0018095)|protein transport (GO:0015031)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|primary cilium (GO:0072372)											CAGGAAGGGGCAGTCAGGATA	0.488																																						ENST00000223208.4																			0											c.(511-513)tGc>tTc		centrosomal protein 41kDa							300.0	265.0	277.0					7																	130042551		2203	4300	6503	SO:0001583	missense	95681				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr7:130042551C>A	AJ278890	CCDS5821.1, CCDS59078.1, CCDS59079.1, CCDS59080.1	7q32	2014-02-20	2011-10-04	2011-10-04	ENSG00000106477	ENSG00000106477			12370	protein-coding gene	gene with protein product		610523	"""testis specific, 14"""	TSGA14		14654843, 22246503	Standard	NM_018718		Approved	DKFZp762H1311, FLJ22445, JBTS15	uc003vpz.4	Q9BYV8	OTTHUMG00000157823	ENST00000223208.5:c.512G>T	7.37:g.130042551C>A	ENSP00000223208:p.Cys171Phe					CEP41_ENST00000541543.1_Missense_Mutation_p.C155F|CEP41_ENST00000343969.5_Missense_Mutation_p.C171F	p.C171F	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN			7	782	-			171			Rhodanese.		A4D1M0|B4DQ35|F5H0V6|Q7Z496|Q86TM1|Q8NFU8|Q9H6A3|Q9NPV3	Missense_Mutation	SNP	ENST00000223208.5	37	c.512G>T	CCDS5821.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691495	0.88735	.	.	ENSG00000106477	ENST00000223208;ENST00000541543;ENST00000343969;ENST00000492389;ENST00000472739;ENST00000477003;ENST00000475282	D;D;D;T;D;D;D	0.89485	-2.52;-2.18;-2.49;1.8;-2.16;-2.19;-2.3	5.83	5.83	0.93111	Rhodanese-like (3);	0.000000	0.85682	D	0.000000	D	0.88492	0.6451	L	0.34521	1.04	0.80722	D	1	D;P;P	0.57899	0.981;0.539;0.767	P;B;B	0.50049	0.629;0.19;0.288	D	0.89522	0.3779	10	0.72032	D	0.01	-17.3092	18.7012	0.91620	0.0:1.0:0.0:0.0	.	155;171;171	F5H0V6;Q9BYV8-2;Q9BYV8	.;.;CEP41_HUMAN	F	171;155;171;136;136;168;136	ENSP00000223208:C171F;ENSP00000445888:C155F;ENSP00000342738:C171F;ENSP00000419192:C136F;ENSP00000417593:C136F;ENSP00000420670:C168F;ENSP00000418363:C136F	ENSP00000223208:C171F	C	-	2	0	TSGA14	129829787	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.698000	0.84413	2.763000	0.94921	0.563000	0.77884	TGC		0.488	CEP41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349702.2	NM_018718		4	247	1	0	0.00024832	1	0.000284533	4	247				
MUC16	94025	broad.mit.edu	37	19	9057080	9057080	+	Silent	SNP	G	G	T	rs377149070		TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr19:9057080G>T	ENST00000397910.4	-	3	30569	c.30366C>A	c.(30364-30366)atC>atA	p.I10122I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10124	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTCCGAGTGGATTGAAACAG	0.463																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(30364-30366)atC>atA		mucin 16, cell surface associated		G		0,3878		0,0,1939	76.0	74.0	74.0		30366	-2.1	0.0	19		74	1,8293		0,1,4146	no	coding-synonymous	MUC16	NM_024690.2		0,1,6085	TT,TG,GG		0.0121,0.0,0.0082		10122/14508	9057080	1,12171	1939	4147	6086	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9057080G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.30366C>A	19.37:g.9057080G>T							p.I10122I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	30569	-			10124			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.30366C>A	CCDS54212.1																																																																																				0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		15	32	1	0	2.62699e-14	1	3.14096e-14	15	32				
MUC17	140453	broad.mit.edu	37	7	100679978	100679978	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr7:100679978G>A	ENST00000306151.4	+	3	5345	c.5281G>A	c.(5281-5283)Gta>Ata	p.V1761I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1761	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACCACGCCGGTACTCAGTTC	0.502																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(5281-5283)Gta>Ata		mucin 17, cell surface associated							287.0	300.0	295.0					7																	100679978		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679978G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5281G>A	7.37:g.100679978G>A	ENSP00000302716:p.Val1761Ile						p.V1761I	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	5345	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1761			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.5281G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	0.015	-1.567728	0.00895	.	.	ENSG00000169876	ENST00000306151	T	0.02103	4.45	0.0465	-0.093	0.13652	.	.	.	.	.	T	0.01189	0.0039	N	0.14661	0.345	0.09310	N	1	B	0.18461	0.028	B	0.11329	0.006	T	0.49370	-0.8947	8	0.13853	T	0.58	.	.	.	.	.	1761	Q685J3	MUC17_HUMAN	I	1761	ENSP00000302716:V1761I	ENSP00000302716:V1761I	V	+	1	0	MUC17	100466698	0.014000	0.17966	0.000000	0.03702	0.000000	0.00434	0.141000	0.16076	-1.446000	0.01945	-1.435000	0.01079	GTA		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		5	610	0	0	0	1	0	5	610				
FNBP4	23360	broad.mit.edu	37	11	47758292	47758292	+	Splice_Site	SNP	G	G	C			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr11:47758292G>C	ENST00000263773.5	-	9	1469	c.1457C>G	c.(1456-1458)gCa>gGa	p.A486G	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	486						nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						AGCACCAATTGCTGTAAAAAA	0.303																																						ENST00000263773.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						c.e9-1		formin binding protein 4							82.0	69.0	73.0					11																	47758292		1788	4059	5847	SO:0001630	splice_region_variant	23360							g.chr11:47758292G>C	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.1457-1C>G	11.37:g.47758292G>C						FNBP4_ENST00000534003.1_5'UTR	p.A486_splice	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN			9	1469	-			486					Q9H985|Q9NT81|Q9Y2L7	Splice_Site	SNP	ENST00000263773.5	37	c.1456_splice	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381727	0.42207	.	.	ENSG00000109920	ENST00000263773	T	0.32988	1.43	5.66	0.347	0.16022	.	0.353248	0.30999	N	0.008457	T	0.16342	0.0393	N	0.20986	0.625	0.19575	N	0.999968	B	0.12630	0.006	B	0.08055	0.003	T	0.12553	-1.0543	10	0.49607	T	0.09	.	5.2307	0.15420	0.3224:0.1371:0.5405:0.0	.	486	Q8N3X1	FNBP4_HUMAN	G	486	ENSP00000263773:A486G	ENSP00000263773:A486G	A	-	2	0	FNBP4	47714868	0.184000	0.23200	0.006000	0.13384	0.650000	0.38633	0.329000	0.19698	-0.105000	0.12132	-0.143000	0.13931	GCA		0.303	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3		Missense_Mutation	3	0	0	0	0	1	0	3	0				
RHOA	387	broad.mit.edu	37	3	49395482	49395482	+	IGR	SNP	G	G	C	rs201944086	byFrequency	TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr3:49395482G>C	ENST00000418115.1	-	0	2031				GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419783.1_Missense_Mutation_p.P77R|GPX1_ENST00000419349.1_Missense_Mutation_p.P77R	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A						actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CTGGTTGCACGGGAAGCCGAG	0.726																																						ENST00000419783.1																			0				breast(1)|large_intestine(2)|lung(1)	4						c.(229-231)cCg>cGg		glutathione peroxidase 1	Glutathione(DB00143)						11.0	14.0	13.0					3																	49395482		1848	4061	5909	SO:0001628	intergenic_variant	2876				anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding	g.chr3:49395482G>C	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838		3.37:g.49395482G>C						GPX1_ENST00000419349.1_Missense_Mutation_p.P77R|GPX1_ENST00000496791.1_5'UTR	p.P77R	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	551	-			77					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	c.230C>G	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	G	36	5.745728	0.96882	.	.	ENSG00000233276	ENST00000419783;ENST00000419349	T;T	0.25085	1.82;1.82	5.88	5.88	0.94601	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.63070	0.2480	M	0.93150	3.385	0.80722	D	1	D;D	0.71674	0.998;0.988	D;P	0.68483	0.958;0.891	T	0.72279	-0.4340	10	0.87932	D	0	.	18.8152	0.92075	0.0:0.0:1.0:0.0	.	77;77	E9PAS1;P07203	.;GPX1_HUMAN	R	77	ENSP00000407375:P77R;ENSP00000391316:P77R	ENSP00000391316:P77R	P	-	2	0	GPX1	49370486	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.875000	0.87205	2.788000	0.95919	0.555000	0.69702	CCG		0.726	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		3	31	0	0	0	1	0	3	31				
SYCP2L	221711	broad.mit.edu	37	6	10928671	10928671	+	Silent	SNP	C	C	T	rs377724008		TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr6:10928671C>T	ENST00000283141.6	+	18	1772	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	492						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			tccctgacttcccgcaacaAC	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		18183	0.0		0.0	False		,,,				2504	0.001					ENST00000283141.6																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(1474-1476)ttC>ttT		synaptonemal complex protein 2-like		C		1,3779		0,1,1889	85.0	90.0	88.0		1476	-0.1	0.0	6		88	0,8198		0,0,4099	no	coding-synonymous	SYCP2L	NM_001040274.2		0,1,5988	TT,TC,CC		0.0,0.0265,0.0083		492/813	10928671	1,11977	1890	4099	5989	SO:0001819	synonymous_variant	221711					nucleus		g.chr6:10928671C>T	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.1476C>T	6.37:g.10928671C>T						RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	p.F492F	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	Epithelial(50;0.239)		18	1772	+	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	492					A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Silent	SNP	ENST00000283141.6	37	c.1476C>T	CCDS43423.1																																																																																				0.498	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299		24	25	0	0	0	1	0	24	25				
ELOVL6	79071	broad.mit.edu	37	4	110972803	110972803	+	Silent	SNP	T	T	C			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr4:110972803T>C	ENST00000394607.3	-	5	652	c.489A>G	c.(487-489)ggA>ggG	p.G163G	ELOVL6_ENST00000302274.3_Silent_p.G163G			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	163					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty acid biosynthetic process (GO:0042759)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		TGAACCAACCTCCCCCGGCAA	0.517																																						ENST00000394607.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(487-489)ggA>ggG		ELOVL fatty acid elongase 6							65.0	58.0	61.0					4																	110972803		2203	4300	6503	SO:0001819	synonymous_variant	79071				fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding	g.chr4:110972803T>C	AK027031	CCDS3690.1	4q25	2011-05-25	2011-05-25		ENSG00000170522	ENSG00000170522			15829	protein-coding gene	gene with protein product		611546	"""ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"""			11567032	Standard	NM_024090		Approved	FLJ23378, MGC5487, LCE	uc003hzz.3	Q9H5J4	OTTHUMG00000132547	ENST00000394607.3:c.489A>G	4.37:g.110972803T>C						ELOVL6_ENST00000302274.3_Silent_p.G163G	p.G163G			Q9H5J4	ELOV6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00462)	5	652	-			163					Q4W5L0|Q8NCD1	Silent	SNP	ENST00000394607.3	37	c.489A>G	CCDS3690.1																																																																																				0.517	ELOVL6-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255748.1	NM_024090		3	53	0	0	0	1	0	3	53				
ADRA1B	147	broad.mit.edu	37	5	159344742	159344742	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr5:159344742G>A	ENST00000306675.3	+	1	953	c.830G>A	c.(829-831)aGt>aAt	p.S277N		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	277					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|adult heart development (GO:0007512)|behavioral response to cocaine (GO:0048148)|blood vessel remodeling (GO:0001974)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|multicellular organismal development (GO:0007275)|negative regulation of glycogen catabolic process (GO:0045818)|organ growth (GO:0035265)|positive regulation of glycogen catabolic process (GO:0045819)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of the force of heart contraction by epinephrine-norepinephrine (GO:0001997)|regulation of cardiac muscle contraction (GO:0055117)|regulation of vasoconstriction (GO:0019229)|response to amphetamine (GO:0001975)|response to morphine (GO:0043278)|vasoconstriction of artery involved in baroreceptor response to lowering of systemic arterial blood pressure (GO:0001987)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)|protein heterodimerization activity (GO:0046982)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acepromazine(DB01614)|Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Dapiprazole(DB00298)|Desipramine(DB01151)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Ziprasidone(DB00246)	AACCCCAGGAGTTCCATAGCT	0.502																																						ENST00000306675.3																			0				endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(829-831)aGt>aAt		adrenoceptor alpha 1B	Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)						85.0	87.0	86.0					5																	159344742		2203	4300	6503	SO:0001583	missense	147				cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr5:159344742G>A	L31773	CCDS4347.1	5q33.3	2012-08-08	2012-05-09		ENSG00000170214	ENSG00000170214		"""GPCR / Class A : Adrenoceptors : alpha"""	278	protein-coding gene	gene with protein product		104220	"""adrenergic, alpha-1B-, receptor"""				Standard	XM_005265818		Approved		uc003lxt.1	P35368	OTTHUMG00000130327	ENST00000306675.3:c.830G>A	5.37:g.159344742G>A	ENSP00000306662:p.Ser277Asn						p.S277N	NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	953	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	277					B0LPE1	Missense_Mutation	SNP	ENST00000306675.3	37	c.830G>A	CCDS4347.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.418360	0.25552	.	.	ENSG00000170214	ENST00000306675	T	0.62788	0.0	5.93	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.164536	0.64402	D	0.000001	T	0.55465	0.1922	L	0.58925	1.835	0.43503	D	0.995759	B	0.14805	0.011	B	0.21151	0.033	T	0.53279	-0.8461	10	0.39692	T	0.17	.	8.4512	0.32871	0.1512:0.0:0.8488:0.0	.	277	P35368	ADA1B_HUMAN	N	277	ENSP00000306662:S277N	ENSP00000306662:S277N	S	+	2	0	ADRA1B	159277320	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.408000	0.66368	2.826000	0.97356	0.655000	0.94253	AGT		0.502	ADRA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252676.1			3	118	0	0	0	1	0	3	118				
SDK1	221935	broad.mit.edu	37	7	3990593	3990593	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr7:3990593G>T	ENST00000404826.2	+	6	1025	c.886G>T	c.(886-888)Gtg>Ttg	p.V296L	SDK1_ENST00000389531.3_Missense_Mutation_p.V296L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	296	Ig-like C2-type 3.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCAACCATTGTGGTTCCCCC	0.552																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(886-888)Gtg>Ttg		sidekick cell adhesion molecule 1							103.0	78.0	87.0					7																	3990593		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:3990593G>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.886G>T	7.37:g.3990593G>T	ENSP00000385899:p.Val296Leu					SDK1_ENST00000389531.3_Missense_Mutation_p.V296L	p.V296L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	6	1025	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	296			Ig-like C2-type 3.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.886G>T	CCDS34590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.91|18.91	3.723522|3.723522	0.68959|0.68959	.|.	.|.	ENSG00000146555|ENSG00000146555	ENST00000426596|ENST00000404826;ENST00000389531	.|T;T	.|0.03094	.|4.05;4.05	5.61|5.61	5.61|5.61	0.85477|0.85477	.|Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.64402	.|D	.|0.000013	T|T	0.13841|0.13841	0.0335|0.0335	L|L	0.42632|0.42632	1.34|1.34	0.47994|0.47994	D|D	0.999561|0.999561	.|D	.|0.71674	.|0.998	.|D	.|0.83275	.|0.996	T|T	0.00300|0.00300	-1.1835|-1.1835	5|10	.|0.62326	.|D	.|0.03	.|.	17.8203|17.8203	0.88648|0.88648	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|296	.|Q7Z5N4	.|SDK1_HUMAN	F|L	14|296	.|ENSP00000385899:V296L;ENSP00000374182:V296L	.|ENSP00000374182:V296L	L|V	+|+	3|1	2|0	SDK1|SDK1	3957119|3957119	1.000000|1.000000	0.71417|0.71417	0.308000|0.308000	0.25141|0.25141	0.514000|0.514000	0.34195|0.34195	4.957000|4.957000	0.63652|0.63652	2.632000|2.632000	0.89209|0.89209	0.655000|0.655000	0.94253|0.94253	TTG|GTG		0.552	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		30	49	1	0	2.42023e-17	1	3.09565e-17	30	49				
DOCK7	85440	broad.mit.edu	37	1	62941378	62941378	+	Splice_Site	SNP	C	C	G			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr1:62941378C>G	ENST00000340370.5	-	45	5885	c.5868G>C	c.(5866-5868)gaG>gaC	p.E1956D	DOCK7_ENST00000489185.1_5'UTR|DOCK7_ENST00000251157.5_Splice_Site_p.E1976D	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1987	DHR-2.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ATGGACTTACCTCTTCTTTAT	0.378																																						ENST00000251157.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.e45+1		dedicator of cytokinesis 7							133.0	139.0	137.0					1																	62941378		2203	4300	6503	SO:0001630	splice_region_variant	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:62941378C>G		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.5868+1G>C	1.37:g.62941378C>G						DOCK7_ENST00000489185.1_5'UTR|DOCK7_ENST00000340370.5_Splice_Site_p.E1956_splice	p.E1976_splice	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN			45	5961	-			1987			DHR-2.		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Splice_Site	SNP	ENST00000340370.5	37	c.5928_splice	CCDS30734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.0|22.0	4.224296|4.224296	0.79576|0.79576	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000454575|ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441	.|T;T	.|0.19806	.|2.12;2.12	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.51075|0.51075	0.1653|0.1653	M|M	0.78916|0.78916	2.43|2.43	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.76494	.|0.998;0.984;0.998;0.999;0.999;0.967	.|D;P;D;D;D;P	.|0.87578	.|0.981;0.79;0.995;0.994;0.998;0.852	T|T	0.48055|0.48055	-0.9068|-0.9068	5|10	.|0.52906	.|T	.|0.07	.|.	19.8965|19.8965	0.96963|0.96963	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1987;1976;1956;1945;1947;1978	.|Q96N67;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	.|DOCK7_HUMAN;.;.;.;.;.	H|D	1150|1987;1976;1956;717	.|ENSP00000251157:E1976D;ENSP00000340742:E1956D	.|ENSP00000251157:E1976D	D|E	-|-	1|3	0|2	DOCK7|DOCK7	62713966|62713966	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.673000|0.673000	0.39480|0.39480	4.977000|4.977000	0.63792|0.63792	2.717000|2.717000	0.92951|0.92951	0.655000|0.655000	0.94253|0.94253	GAT|GAG		0.378	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407	Missense_Mutation	48	72	0	0	0	1	0	48	72				
GAS8	2622	broad.mit.edu	37	16	90095609	90095609	+	Intron	SNP	C	C	T	rs76322535		TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr16:90095609C>T	ENST00000268699.4	+	2	212				C16orf3_ENST00000408886.2_Missense_Mutation_p.V48I|GAS8_ENST00000540721.1_Intron|GAS8_ENST00000536122.1_Intron	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		gggcagcctacggggcaggct	0.672																																						ENST00000408886.2																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(142-144)Gta>Ata		chromosome 16 open reading frame 3							22.0	25.0	24.0					16																	90095609		2197	4299	6496	SO:0001627	intron_variant	750							g.chr16:90095609C>T	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.90+1479C>T	16.37:g.90095609C>T						GAS8_ENST00000268699.4_Intron|GAS8_ENST00000540721.1_Intron|GAS8_ENST00000536122.1_Intron	p.V48I	NM_001214.3	NP_001205.3	O95177	CP003_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	1	700	-		all_cancers(9;9.01e-08)|Hepatocellular(780;0.000325)|Lung NSC(15;0.0104)|all_lung(18;0.0239)	48		Missing (in short isoform).			B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	c.142G>A	CCDS10992.1	17	0.007783882783882784	16	0.032520325203252036	1	0.0027624309392265192	0	0.0	0	0.0	N	0.178	-1.064676	0.01934	.	.	ENSG00000221819	ENST00000408886	T	0.55052	0.54	0.668	-1.34	0.09143	.	.	.	.	.	T	0.08268	0.0206	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.05500	-1.0881	7	.	.	.	.	.	.	.	.	56	O95177	CP003_HUMAN	I	48	ENSP00000386218:V48I	.	V	-	1	0	C16orf3	88623110	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-2.485000	0.00979	-3.256000	0.00203	-2.337000	0.00247	GTA		0.672	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			3	8	0	0	0	1	0	3	8				
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A	rs200209148	byFrequency	TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										TGAGGCTGCCGTTGTAGAAGG	0.612																																						ENST00000412448.1																			0																																																			0							g.chr22:18769145G>A			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18769145G>A														0	1141	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.612	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		4	31	0	0	0	1	0	4	31				
PPP1R42	286187	broad.mit.edu	37	8	67922953	67922953	+	Silent	SNP	C	C	G			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr8:67922953C>G	ENST00000324682.5	-	5	693	c.549G>C	c.(547-549)gtG>gtC	p.V183V	PPP1R42_ENST00000522909.1_Silent_p.V183V|PPP1R42_ENST00000517834.1_5'Flank	NM_001013626.2	NP_001013648.1	Q7Z4L9	PPR42_HUMAN	protein phosphatase 1, regulatory subunit 42	183					regulation of phosphatase activity (GO:0010921)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|manchette (GO:0002177)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)	actin binding (GO:0003779)|dynein binding (GO:0045502)|tubulin binding (GO:0015631)										ACACTACCTTCACATGCAGAA	0.254																																						ENST00000522909.1																			0											c.(547-549)gtG>gtC		protein phosphatase 1, regulatory subunit 42							64.0	63.0	63.0					8																	67922953		2203	4296	6499	SO:0001819	synonymous_variant	286187							g.chr8:67922953C>G	BC055413	CCDS34902.1	8q13.1-q13.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000178125	ENSG00000178125		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	33732	protein-coding gene	gene with protein product	"""testis leucine-rich repeat"""		"""leucine rich repeat containing 67"""	LRRC67			Standard	NM_001013626		Approved	dtr, TLLR	uc003xxc.3	Q7Z4L9	OTTHUMG00000164745	ENST00000324682.5:c.549G>C	8.37:g.67922953C>G						PPP1R42_ENST00000324682.5_Silent_p.V183V	p.V183V			Q7Z4L9	LRC67_HUMAN			5	733	-			183						Silent	SNP	ENST00000324682.5	37	c.549G>C	CCDS34902.1																																																																																				0.254	PPP1R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380034.2	NM_001013626		11	69	0	0	0	1	0	11	69				
APBA2	321	broad.mit.edu	37	15	29393810	29393810	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr15:29393810G>T	ENST00000558402.1	+	11	1946	c.1347G>T	c.(1345-1347)atG>atT	p.M449I	APBA2_ENST00000561069.1_Missense_Mutation_p.M449I|APBA2_ENST00000558330.1_Missense_Mutation_p.M437I|APBA2_ENST00000558259.1_Missense_Mutation_p.M449I|APBA2_ENST00000411764.1_Missense_Mutation_p.M437I			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	449	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AGGAAACCATGATGGACCACG	0.577																																						ENST00000558402.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59						c.(1345-1347)atG>atT		amyloid beta (A4) precursor protein-binding, family A, member 2							96.0	67.0	77.0					15																	29393810		2203	4299	6502	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29393810G>T	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1347G>T	15.37:g.29393810G>T	ENSP00000453293:p.Met449Ile					APBA2_ENST00000411764.1_Missense_Mutation_p.M437I|APBA2_ENST00000561069.1_Missense_Mutation_p.M449I|APBA2_ENST00000558259.1_Missense_Mutation_p.M449I|APBA2_ENST00000558330.1_Missense_Mutation_p.M437I	p.M449I			Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	11	1946	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	449			PID.		E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.1347G>T	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767429	0.69878	.	.	ENSG00000034053	ENST00000411764;ENST00000219865;ENST00000382938	T	0.16597	2.33	4.27	4.27	0.50696	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.093790	0.64402	D	0.000002	T	0.22166	0.0534	L	0.55017	1.72	0.80722	D	1	B;B;B;B	0.34103	0.17;0.437;0.267;0.096	B;B;B;B	0.37943	0.194;0.241;0.194;0.261	T	0.05289	-1.0894	10	0.51188	T	0.08	.	16.2197	0.82251	0.0:0.0:1.0:0.0	.	437;141;437;449	Q5XKC0;Q6ZVB1;E9PGI4;Q99767	.;.;.;APBA2_HUMAN	I	437;449;141	ENSP00000409312:M437I	ENSP00000219865:M449I	M	+	3	0	APBA2	27181102	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.352000	0.97076	2.365000	0.80145	0.655000	0.94253	ATG		0.577	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		3	26	1	0	1	1	1	3	26				
DNAH5	1767	broad.mit.edu	37	5	13700941	13700941	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr5:13700941T>C	ENST00000265104.4	-	78	13635	c.13531A>G	c.(13531-13533)Atg>Gtg	p.M4511V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4511					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAAAGCACCATATTGTCCAGA	0.463									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(13531-13533)Atg>Gtg		dynein, axonemal, heavy chain 5							149.0	139.0	142.0					5																	13700941		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13700941T>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.13531A>G	5.37:g.13700941T>C	ENSP00000265104:p.Met4511Val						p.M4511V	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			78	13635	-	Lung NSC(4;0.00476)		4511					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.13531A>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	2.942	-0.218585	0.06101	.	.	ENSG00000039139	ENST00000265104	T	0.08008	3.14	5.95	3.48	0.39840	Dynein heavy chain (1);	0.138121	0.64402	D	0.000003	T	0.01730	0.0055	N	0.00621	-1.32	0.45227	D	0.998232	B	0.02656	0.0	B	0.01281	0.0	T	0.36456	-0.9747	10	0.02654	T	1	.	4.439	0.11564	0.0:0.2147:0.1715:0.6138	.	4511	Q8TE73	DYH5_HUMAN	V	4511	ENSP00000265104:M4511V	ENSP00000265104:M4511V	M	-	1	0	DNAH5	13753941	0.998000	0.40836	0.997000	0.53966	0.996000	0.88848	1.812000	0.38952	1.045000	0.40225	0.528000	0.53228	ATG		0.463	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		138	70	0	0	0	1	0	138	70				
SRPX	8406	broad.mit.edu	37	X	38016273	38016273	+	Missense_Mutation	SNP	A	A	T	rs375474100		TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chrX:38016273A>T	ENST00000378533.3	-	8	1071	c.965T>A	c.(964-966)gTc>gAc	p.V322D	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000544439.1_Missense_Mutation_p.V302D|SRPX_ENST00000343800.6_Missense_Mutation_p.V309D|SRPX_ENST00000538295.1_Missense_Mutation_p.V322D|SRPX_ENST00000479015.1_5'UTR|SRPX_ENST00000432886.2_Missense_Mutation_p.V263D	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	322					autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						ACCCACATTGACGTTCATGGC	0.478																																						ENST00000378533.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						c.(964-966)gTc>gAc		sushi-repeat containing protein, X-linked							109.0	91.0	97.0					X																	38016273		2202	4300	6502	SO:0001583	missense	8406				cell adhesion	cell surface|membrane		g.chrX:38016273A>T	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"""sushi-repeat-containing protein, X chromosome"", ""sushi-repeat-containing protein, X-linked"""			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.965T>A	X.37:g.38016273A>T	ENSP00000367794:p.Val322Asp					SRPX_ENST00000343800.6_Missense_Mutation_p.V309D|SRPX_ENST00000432886.2_Missense_Mutation_p.V263D|SRPX_ENST00000479015.1_5'UTR|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000544439.1_Missense_Mutation_p.V302D|SRPX_ENST00000538295.1_Missense_Mutation_p.V322D	p.V322D	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN			8	1071	-			322					A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Missense_Mutation	SNP	ENST00000378533.3	37	c.965T>A	CCDS14245.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.655226	0.88056	.	.	ENSG00000101955	ENST00000544439;ENST00000432886;ENST00000538295;ENST00000378533;ENST00000343800	T;T;T;T;T	0.18174	2.25;2.46;2.3;2.24;2.23	6.08	6.08	0.98989	Complement control module (1);	0.198417	0.52532	D	0.000072	T	0.28267	0.0698	L	0.31926	0.97	0.80722	D	1	D;P;D;D	0.60575	0.984;0.93;0.988;0.979	P;P;P;P	0.58721	0.844;0.613;0.804;0.642	T	0.01472	-1.1346	10	0.72032	D	0.01	-16.4829	15.4993	0.75684	1.0:0.0:0.0:0.0	.	322;263;302;322	F5H4D7;B4DQH5;G3V1L0;P78539	.;.;.;SRPX_HUMAN	D	302;263;322;322;309	ENSP00000440758:V302D;ENSP00000411165:V263D;ENSP00000445034:V322D;ENSP00000367794:V322D;ENSP00000339211:V309D	ENSP00000339211:V309D	V	-	2	0	SRPX	37901217	1.000000	0.71417	0.984000	0.44739	0.939000	0.58152	8.962000	0.93254	2.044000	0.60594	0.486000	0.48141	GTC		0.478	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		7	30	0	0	0	1	0	7	30				
SSH3	54961	broad.mit.edu	37	11	67079329	67079329	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr11:67079329C>T	ENST00000308127.4	+	14	2129	c.1951C>T	c.(1951-1953)Cat>Tat	p.H651Y	SSH3_ENST00000308298.7_Missense_Mutation_p.H386Y|SSH3_ENST00000376757.5_3'UTR	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	651					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGCCAGCGTGCATGACAGTGG	0.637																																						ENST00000308127.4																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1951-1953)Cat>Tat		slingshot protein phosphatase 3							67.0	54.0	59.0					11																	67079329		2200	4295	6495	SO:0001583	missense	54961				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:67079329C>T	AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30581	protein-coding gene	gene with protein product		606780	"""slingshot homolog 3 (Drosophila)"""			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.1951C>T	11.37:g.67079329C>T	ENSP00000312081:p.His651Tyr					SSH3_ENST00000376757.5_3'UTR|SSH3_ENST00000308298.7_Missense_Mutation_p.H386Y	p.H651Y	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		14	2129	+			651					Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Missense_Mutation	SNP	ENST00000308127.4	37	c.1951C>T	CCDS8157.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.367969	0.24771	.	.	ENSG00000172830	ENST00000308127;ENST00000308298	T;T	0.30981	3.86;1.51	4.72	3.81	0.43845	.	1.194440	0.06298	N	0.700381	T	0.18923	0.0454	N	0.08118	0	0.80722	D	1	B;B	0.30686	0.29;0.011	B;B	0.21708	0.036;0.012	T	0.02244	-1.1189	10	0.72032	D	0.01	-6.3164	11.2717	0.49142	0.0:0.1876:0.8124:0.0	.	505;651	Q8TE77-3;Q8TE77	.;SSH3_HUMAN	Y	651;386	ENSP00000312081:H651Y;ENSP00000310055:H386Y	ENSP00000312081:H651Y	H	+	1	0	SSH3	66835905	1.000000	0.71417	0.967000	0.41034	0.197000	0.23852	2.847000	0.48270	1.136000	0.42199	-0.234000	0.12200	CAT		0.637	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1	NM_018276		37	47	0	0	0	1	0	37	47				
KIF24	347240	broad.mit.edu	37	9	34255095	34255095	+	Missense_Mutation	SNP	G	G	A	rs371161721		TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr9:34255095G>A	ENST00000402558.2	-	11	3965	c.3941C>T	c.(3940-3942)aCg>aTg	p.T1314M	KIF24_ENST00000345050.2_Missense_Mutation_p.T1180M|KIF24_ENST00000379174.3_Missense_Mutation_p.T1180M|KIF24_ENST00000379166.2_Missense_Mutation_p.T1314M			Q5T7B8	KIF24_HUMAN	kinesin family member 24	1314					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			GCTCATCAGCGTCTCCTCCTT	0.527																																						ENST00000379166.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(3940-3942)aCg>aTg		kinesin family member 24							64.0	50.0	55.0					9																	34255095		2203	4298	6501	SO:0001583	missense	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34255095G>A	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.3941C>T	9.37:g.34255095G>A	ENSP00000384433:p.Thr1314Met					KIF24_ENST00000402558.2_Missense_Mutation_p.T1314M|KIF24_ENST00000379174.3_Missense_Mutation_p.T1180M|KIF24_ENST00000345050.2_Missense_Mutation_p.T1180M	p.T1314M	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		12	4060	-			1314					Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	ENST00000402558.2	37	c.3941C>T	CCDS6551.2	.	.	.	.	.	.	.	.	.	.	G	15.02	2.710317	0.48517	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050	T;T;T;T	0.72394	-0.43;-0.65;-0.43;-0.65	5.55	2.62	0.31277	.	0.304002	0.24027	N	0.042226	T	0.61362	0.2341	M	0.62723	1.935	0.20074	N	0.999938	P	0.52316	0.952	B	0.42030	0.373	T	0.59984	-0.7351	10	0.66056	D	0.02	.	2.9281	0.05791	0.1685:0.3987:0.3118:0.121	.	1314	Q5T7B8	KIF24_HUMAN	M	1314;1180;1314;1180	ENSP00000384433:T1314M;ENSP00000368472:T1180M;ENSP00000368464:T1314M;ENSP00000340179:T1180M	ENSP00000340179:T1180M	T	-	2	0	KIF24	34245095	0.505000	0.26131	0.971000	0.41717	0.615000	0.37417	0.794000	0.26958	0.714000	0.32081	0.655000	0.94253	ACG		0.527	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			3	15	0	0	0	1	0	3	15				
GTF2B	2959	broad.mit.edu	37	1	89319013	89319013	+	Silent	SNP	A	A	T			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr1:89319013A>T	ENST00000370500.5	-	7	952	c.834T>A	c.(832-834)gcT>gcA	p.A278A		NM_001514.5	NP_001505.1	Q00403	TF2B_HUMAN	general transcription factor IIB	278					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)	core promoter binding (GO:0001047)|thyroid hormone receptor binding (GO:0046966)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		CAGCAACACCAGCAATATCTC	0.398																																						ENST00000370500.5																			0				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(832-834)gcT>gcA		general transcription factor IIB							136.0	136.0	136.0					1																	89319013		2203	4300	6503	SO:0001819	synonymous_variant	2959				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding	g.chr1:89319013A>T	M76766	CCDS715.1	1p22-p21	2010-03-23			ENSG00000137947	ENSG00000137947		"""General transcription factors"""	4648	protein-coding gene	gene with protein product		189963				1876184, 8162052	Standard	NM_001514		Approved	TFIIB	uc001dmo.4	Q00403	OTTHUMG00000010611	ENST00000370500.5:c.834T>A	1.37:g.89319013A>T							p.A278A	NM_001514.5	NP_001505.1	Q00403	TF2B_HUMAN		all cancers(265;0.0131)|Epithelial(280;0.0255)	7	952	-		Lung NSC(277;0.123)	278					A8K1A7|Q5JS30	Silent	SNP	ENST00000370500.5	37	c.834T>A	CCDS715.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.182196	0.38511	.	.	ENSG00000137947	ENST00000448623	T	0.41758	0.99	5.97	2.31	0.28768	.	.	.	.	.	T	0.34308	0.0893	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31110	-0.9955	6	0.72032	D	0.01	-12.3919	5.9028	0.18976	0.6048:0.2599:0.1353:0.0	.	.	.	.	R	222	ENSP00000415741:W222R	ENSP00000415741:W222R	W	-	1	0	GTF2B	89091601	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.291000	0.33330	1.094000	0.41399	0.533000	0.62120	TGG		0.398	GTF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029279.1	NM_001514		49	59	0	0	0	1	0	49	59				
OR2L2	26246	broad.mit.edu	37	1	248201938	248201938	+	Silent	SNP	G	G	T			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr1:248201938G>T	ENST00000366479.2	+	1	465	c.369G>T	c.(367-369)gtG>gtT	p.V123V	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATCGTTATGTGGCCATTTGCT	0.438																																						ENST00000366479.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42						c.(367-369)gtG>gtT		olfactory receptor, family 2, subfamily L, member 2							163.0	144.0	150.0					1																	248201938		2203	4300	6503	SO:0001819	synonymous_variant	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248201938G>T	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.369G>T	1.37:g.248201938G>T						OR2L13_ENST00000366478.2_Intron	p.V123V	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	465	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		123					Q2M3T5	Silent	SNP	ENST00000366479.2	37	c.369G>T	CCDS31103.1																																																																																				0.438	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		57	62	1	0	2.3441e-25	1	3.14452e-25	57	62				
CERCAM	51148	broad.mit.edu	37	9	131193524	131193524	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr9:131193524G>A	ENST00000372838.4	+	9	1543	c.1145G>A	c.(1144-1146)cGc>cAc	p.R382H	RP11-339B21.10_ENST00000610052.1_RNA|CERCAM_ENST00000372842.1_Missense_Mutation_p.R304H	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	382					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						TACTCGGGCCGCACTCTGACC	0.627																																						ENST00000372842.1																			0				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						c.(910-912)cGc>cAc		cerebral endothelial cell adhesion molecule							85.0	85.0	85.0					9																	131193524		2203	4300	6503	SO:0001583	missense	51148				cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane		g.chr9:131193524G>A	AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"""glycosyltransferase 25 domain containing 3"""		"""cerebral cell adhesion molecule"""	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.1145G>A	9.37:g.131193524G>A	ENSP00000361929:p.Arg382His					CERCAM_ENST00000372838.4_Missense_Mutation_p.R382H	p.R304H			Q5T4B2	GT253_HUMAN			10	4055	+			382					A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Missense_Mutation	SNP	ENST00000372838.4	37	c.911G>A	CCDS6901.2	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789219	0.70337	.	.	ENSG00000167123	ENST00000372842;ENST00000372838;ENST00000413863	T;T	0.80653	-1.37;-1.4	5.02	4.1	0.47936	.	0.055960	0.64402	N	0.000001	D	0.86293	0.5898	M	0.74546	2.27	0.80722	D	1	D	0.59767	0.986	P	0.57679	0.825	D	0.87600	0.2496	10	0.72032	D	0.01	-20.9121	12.8845	0.58036	0.0818:0.0:0.9182:0.0	.	382	Q5T4B2	GT253_HUMAN	H	304;382;335	ENSP00000361933:R304H;ENSP00000361929:R382H	ENSP00000361929:R382H	R	+	2	0	CERCAM	130233345	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	7.668000	0.83897	1.197000	0.43143	0.491000	0.48974	CGC		0.627	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054435.2	NM_016174		4	150	0	0	0	1	0	4	150				
TRBV2	28620	broad.mit.edu	37	7	142000833	142000833	+	RNA	SNP	C	C	A			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr7:142000833C>A	ENST00000455382.2	+	0	87									T cell receptor beta variable 2																		GGATACCTGGCTCGTATGCTG	0.478																																						ENST00000455382.2																			0																				135.0	127.0	130.0					7																	142000833		1952	4149	6101			0							g.chr7:142000833C>A	L36092		7q34	2012-02-07			ENSG00000226660	ENSG00000226660		"""T cell receptors / TRB locus"""	12195	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TCRBV22S1A2N1T, TCRBV2S1			OTTHUMG00000158532		7.37:g.142000833C>A														0	87	+									RNA	SNP	ENST00000455382.2	37																																																																																						0.478	TRBV2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351238.2	NG_001333		33	85	1	0	3.4345e-17	1	4.29312e-17	33	85				
PYROXD2	84795	broad.mit.edu	37	10	100150769	100150769	+	Missense_Mutation	SNP	T	T	C	rs372754247		TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr10:100150769T>C	ENST00000370575.4	-	11	1181	c.1133A>G	c.(1132-1134)aAt>aGt	p.N378S	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	378							oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						CCTCTTACCATTGATCTTGGT	0.547																																						ENST00000370575.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(1132-1134)aAt>aGt		pyridine nucleotide-disulphide oxidoreductase domain 2		T	SER/ASN	1,4405	2.1+/-5.4	0,1,2202	147.0	139.0	142.0		1133	5.1	1.0	10		142	0,8600		0,0,4300	no	missense	PYROXD2	NM_032709.2	46	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging	378/582	100150769	1,13005	2203	4300	6503	SO:0001583	missense	84795						oxidoreductase activity	g.chr10:100150769T>C	AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 33"""	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.1133A>G	10.37:g.100150769T>C	ENSP00000359607:p.Asn378Ser					PYROXD2_ENST00000483923.1_5'UTR	p.N378S	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN			11	1181	-			378					D3DR61|Q5TAA9|Q9BRQ1	Missense_Mutation	SNP	ENST00000370575.4	37	c.1133A>G	CCDS7474.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.168395	0.78339	2.27E-4	0.0	ENSG00000119943	ENST00000370575	T	0.23950	1.88	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.47432	0.1445	H	0.94183	3.505	0.80722	D	1	P	0.42375	0.778	P	0.44732	0.459	T	0.61686	-0.7012	10	0.72032	D	0.01	-26.6683	12.4767	0.55819	0.0:0.0:0.0:1.0	.	378	Q8N2H3	PYRD2_HUMAN	S	378	ENSP00000359607:N378S	ENSP00000359607:N378S	N	-	2	0	PYROXD2	100140759	1.000000	0.71417	0.986000	0.45419	0.889000	0.51656	6.520000	0.73773	1.942000	0.56320	0.460000	0.39030	AAT		0.547	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049782.2	NM_032709		10	166	0	0	0	1	0	10	166				
B9D2	80776	broad.mit.edu	37	19	41858655	41858655	+	IGR	SNP	G	G	T			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr19:41858655G>T	ENST00000243578.3	-	0	1027				CTC-435M10.3_ENST00000604424.1_Intron|TMEM91_ENST00000539627.1_Intron|TMEM91_ENST00000604123.1_5'Flank|TGFB1_ENST00000221930.5_Missense_Mutation_p.P99T	NM_030578.3	NP_085055.2	Q9BPU9	B9D2_HUMAN	B9 protein domain 2						cilium assembly (GO:0042384)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)	gamma-tubulin binding (GO:0043015)			large_intestine(1)|ovary(1)	2						TCGGCCTCAGGCTCGGGCTCC	0.731											OREG0025483	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000221930.5																			0				endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8						c.(295-297)Cct>Act		transforming growth factor, beta 1	Hyaluronidase(DB00070)						24.0	25.0	25.0					19																	41858655		2202	4298	6500	SO:0001628	intergenic_variant	7040				active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding	g.chr19:41858655G>T	BC004157	CCDS12579.1	19q13.2	2014-01-28				ENSG00000123810			28636	protein-coding gene	gene with protein product		611951				21763481	Standard	NM_030578		Approved	MGC4093, MKS10	uc002oqj.2	Q9BPU9			19.37:g.41858655G>T			OREG0025483	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	904	TMEM91_ENST00000539627.1_Intron	p.P99T	NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN			1	1161	-			99						Missense_Mutation	SNP	ENST00000243578.3	37	c.295C>A	CCDS12579.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.859871	0.00552	.	.	ENSG00000105329	ENST00000221930	T	0.64618	-0.11	4.06	1.75	0.24633	Transforming growth factor-beta, N-terminal (1);	0.267349	0.37012	N	0.002282	T	0.40498	0.1119	L	0.36672	1.1	0.38775	D	0.954646	B	0.15473	0.013	B	0.19391	0.025	T	0.20009	-1.0288	10	0.05833	T	0.94	-18.8432	4.1134	0.10070	0.1016:0.1631:0.5871:0.1481	.	99	P01137	TGFB1_HUMAN	T	99	ENSP00000221930:P99T	ENSP00000221930:P99T	P	-	1	0	TGFB1	46550495	0.007000	0.16637	0.326000	0.25389	0.001000	0.01503	1.352000	0.34033	0.912000	0.36772	-0.251000	0.11542	CCT		0.731	B9D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463489.1	NM_030578		13	24	1	0	1.99824e-07	1	2.33836e-07	13	24				
CSNK2A2	1459	broad.mit.edu	37	16	58198010	58198010	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr16:58198010C>A	ENST00000262506.3	-	11	1201	c.1018G>T	c.(1018-1020)Gct>Tct	p.A340S	CSNK2A2_ENST00000566813.1_5'UTR	NM_001896.2	NP_001887.1	P19784	CSK22_HUMAN	casein kinase 2, alpha prime polypeptide	340					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)	1						GAAAGCACAGCATTGTCTGCA	0.527																																					Melanoma(54;119 1219 18349 35700 39738)	ENST00000262506.3																			0				central_nervous_system(1)	1						c.(1018-1020)Gct>Tct		casein kinase 2, alpha prime polypeptide							111.0	93.0	99.0					16																	58198010		2198	4300	6498	SO:0001583	missense	1459				axon guidance|Wnt receptor signaling pathway	cytosol|nucleus	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	g.chr16:58198010C>A	M55268	CCDS10794.1	16q21	2013-01-17			ENSG00000070770	ENSG00000070770			2459	protein-coding gene	gene with protein product		115442				2174700, 1766873	Standard	NM_001896		Approved	CSNK2A1	uc002enc.3	P19784	OTTHUMG00000133488	ENST00000262506.3:c.1018G>T	16.37:g.58198010C>A	ENSP00000262506:p.Ala340Ser					CSNK2A2_ENST00000566813.1_5'UTR	p.A340S	NM_001896.2	NP_001887.1	P19784	CSK22_HUMAN			11	1201	-			340						Missense_Mutation	SNP	ENST00000262506.3	37	c.1018G>T	CCDS10794.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.542429	0.27563	.	.	ENSG00000070770	ENST00000262506	T	0.65732	-0.17	5.61	3.53	0.40419	.	0.283632	0.40144	N	0.001176	T	0.38532	0.1044	N	0.16368	0.405	0.26355	N	0.97715	B	0.06786	0.001	B	0.06405	0.002	T	0.15896	-1.0421	10	0.09338	T	0.73	-4.2847	8.302	0.32019	0.1536:0.7634:0.0:0.083	.	340	P19784	CSK22_HUMAN	S	340	ENSP00000262506:A340S	ENSP00000262506:A340S	A	-	1	0	CSNK2A2	56755511	0.932000	0.31603	0.932000	0.37286	0.999000	0.98932	1.605000	0.36815	1.471000	0.48121	0.655000	0.94253	GCT		0.527	CSNK2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257386.2	NM_001896		3	40	1	0	1	1	1	3	40				
LCMT2	9836	broad.mit.edu	37	15	43620821	43620821	+	Silent	SNP	A	A	G	rs538083093		TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr15:43620821A>G	ENST00000305641.5	-	1	1982	c.1867T>C	c.(1867-1869)Ttg>Ctg	p.L623L	ADAL_ENST00000389651.4_5'Flank|ADAL_ENST00000428046.3_5'Flank|ADAL_ENST00000422466.2_5'Flank|LCMT2_ENST00000567039.1_3'UTR|LCMT2_ENST00000544735.1_Silent_p.L202L	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	623					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	TCAGAGCTCAATCCTGTAGTC	0.443																																						ENST00000305641.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20						c.(1867-1869)Ttg>Ctg		leucine carboxyl methyltransferase 2	L-Leucine(DB00149)						112.0	106.0	108.0					15																	43620821		2201	4299	6500	SO:0001819	synonymous_variant	9836				tRNA processing		methyltransferase activity|protein binding	g.chr15:43620821A>G	AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 4"""	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.1867T>C	15.37:g.43620821A>G						LCMT2_ENST00000544735.1_Silent_p.L202L|LCMT2_ENST00000567039.1_3'UTR	p.L623L	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN		GBM - Glioblastoma multiforme(94;8.1e-07)	1	1982	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	623					Q4JFT6|Q96B55|Q9NR10	Silent	SNP	ENST00000305641.5	37	c.1867T>C	CCDS10094.1																																																																																				0.443	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253205.1	NM_014793		42	34	0	0	0	1	0	42	34				
EXD3	54932	broad.mit.edu	37	9	140267454	140267454	+	Missense_Mutation	SNP	G	G	A	rs368323331		TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr9:140267454G>A	ENST00000340951.4	-	5	560	c.365C>T	c.(364-366)gCg>gTg	p.A122V	EXD3_ENST00000475006.1_5'UTR|EXD3_ENST00000342129.4_5'UTR|EXD3_ENST00000479452.1_Missense_Mutation_p.A122V	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0	Pro-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						CAGTGGTGCCGCAAGGCTGGG	0.637																																						ENST00000340951.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						c.(364-366)gCg>gTg		exonuclease 3'-5' domain containing 3		A	VAL/ALA	2,4172		0,2,2085	42.0	52.0	48.0		365	-6.4	0.0	9		48	0,8430		0,0,4215	no	missense	EXD3	NM_017820.3	64	0,2,6300	AA,AG,GG		0.0,0.0479,0.0159	benign	122/877	140267454	2,12602	2087	4215	6302	SO:0001583	missense	54932				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr9:140267454G>A		CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.365C>T	9.37:g.140267454G>A	ENSP00000340474:p.Ala122Val					EXD3_ENST00000479452.1_Missense_Mutation_p.A122V|EXD3_ENST00000475006.1_5'UTR|EXD3_ENST00000342129.4_5'UTR	p.A122V	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN			5	560	-			122					Q6P1M1|Q8IXT8	Missense_Mutation	SNP	ENST00000340951.4	37	c.365C>T	CCDS48066.1	.	.	.	.	.	.	.	.	.	.	A	0.968	-0.701097	0.03255	4.79E-4	0.0	ENSG00000187609	ENST00000340951;ENST00000479452	T;T	0.48201	0.82;1.67	4.29	-6.41	0.01938	.	0.787215	0.11689	N	0.539057	T	0.18964	0.0455	N	0.02736	-0.51	0.09310	N	0.999997	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.28106	-1.0054	10	0.17832	T	0.49	.	12.9098	0.58173	0.4356:0.0:0.5644:0.0	.	122;122	Q8N9H8-4;Q8N9H8	.;MUT7_HUMAN	V	122	ENSP00000340474:A122V;ENSP00000431859:A122V	ENSP00000340474:A122V	A	-	2	0	EXD3	139387275	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.264000	0.18497	-2.313000	0.00648	-3.502000	0.00033	GCG		0.637	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	NM_017820		5	129	0	0	0	1	0	5	129				
TAS2R38	5726	broad.mit.edu	37	7	141672537	141672537	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr7:141672537C>G	ENST00000547270.1	-	1	1036	c.953G>C	c.(952-954)aGc>aCc	p.S318T		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	318					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					TACCTTCAGGCTGCTCTGAGC	0.507																																						ENST00000547270.1																			0				NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21						c.(952-954)aGc>aCc		taste receptor, type 2, member 38							68.0	60.0	63.0					7																	141672537		2203	4300	6503	SO:0001583	missense	5726				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:141672537C>G	AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	9584	protein-coding gene	gene with protein product		607751	"""phenylthiocarbamide tasting"""	PTC		12624758, 12584440	Standard	NM_176817		Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.953G>C	7.37:g.141672537C>G	ENSP00000448219:p.Ser318Thr						p.S318T	NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN			1	1036	-	Melanoma(164;0.0171)		318					A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Missense_Mutation	SNP	ENST00000547270.1	37	c.953G>C	CCDS34765.1	.	.	.	.	.	.	.	.	.	.	C	7.885	0.731081	0.15507	.	.	ENSG00000257138	ENST00000547270	T	0.38077	1.16	5.31	-0.251	0.13003	.	1.137340	0.06500	N	0.736125	T	0.30759	0.0775	M	0.68593	2.085	0.09310	N	1	B	0.29432	0.244	B	0.19391	0.025	T	0.22556	-1.0213	10	0.22706	T	0.39	.	4.8871	0.13708	0.4435:0.3873:0.0:0.1692	.	318	P59533	T2R38_HUMAN	T	318	ENSP00000448219:S318T	ENSP00000331291:S318T	S	-	2	0	TAS2R38	141319006	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	-0.376000	0.07465	0.020000	0.15106	-0.274000	0.10170	AGC		0.507	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	NM_176817		8	86	0	0	0	1	0	8	86				
ACTR5	79913	broad.mit.edu	37	20	37400382	37400382	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr20:37400382G>A	ENST00000243903.4	+	9	1784	c.1747G>A	c.(1747-1749)Gcc>Acc	p.A583T		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	583					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				GCCGAAGCAGGCCTCCCGCTC	0.587																																						ENST00000243903.4																			0				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12						c.(1747-1749)Gcc>Acc		ARP5 actin-related protein 5 homolog (yeast)							35.0	33.0	34.0					20																	37400382		2203	4300	6503	SO:0001583	missense	79913				DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding	g.chr20:37400382G>A	AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"""INO80 complex subunits"""	14671	protein-coding gene	gene with protein product	"""INO80 complex subunit M"""		"""ARP5 (actin-related protein 5, yeast) homolog"""			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.1747G>A	20.37:g.37400382G>A	ENSP00000243903:p.Ala583Thr						p.A583T	NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN			9	1784	+		Myeloproliferative disorder(115;0.00878)	583					Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Missense_Mutation	SNP	ENST00000243903.4	37	c.1747G>A	CCDS13308.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101004	0.37048	.	.	ENSG00000101442	ENST00000243903	D	0.96168	-3.93	5.95	4.82	0.62117	.	0.169822	0.51477	D	0.000097	D	0.90116	0.6912	N	0.20986	0.625	0.41963	D	0.990711	B	0.17852	0.024	B	0.12156	0.007	D	0.85306	0.1076	10	0.18710	T	0.47	-19.4077	13.7572	0.62943	0.1248:0.0:0.8752:0.0	.	583	Q9H9F9	ARP5_HUMAN	T	583	ENSP00000243903:A583T	ENSP00000243903:A583T	A	+	1	0	ACTR5	36833796	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	2.547000	0.45786	2.833000	0.97629	0.655000	0.94253	GCC		0.587	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079205.2	NM_024855		19	13	0	0	0	1	0	19	13				
APOC4	346	broad.mit.edu	37	19	45445567	45445567	+	Silent	SNP	G	G	T			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr19:45445567G>T	ENST00000592954.1	+	1	73	c.33G>T	c.(31-33)ctG>ctT	p.L11L	APOC4_ENST00000591600.1_Silent_p.L11L|APOC4-APOC2_ENST00000589057.1_Silent_p.L11L|APOC4_ENST00000419266.2_Silent_p.L11L	NM_001646.2	NP_001637.1	P55056	APOC4_HUMAN	apolipoprotein C-IV	11					lipid metabolic process (GO:0006629)|positive regulation of sequestering of triglyceride (GO:0010890)|triglyceride homeostasis (GO:0070328)	high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	lipid transporter activity (GO:0005319)			breast(1)|endometrium(1)|lung(2)	4	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00334)|Epithelial(262;0.178)		TCCAGGCCCTGCCTGCCCTGT	0.657																																						ENST00000419266.2																			0											c.(31-33)ctG>ctT									65.0	53.0	57.0					19																	45445567		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr19:45445567G>T	U32576	CCDS12649.1	19q13.2	2013-09-30			ENSG00000267467	ENSG00000267467		"""Apolipoproteins"""	611	protein-coding gene	gene with protein product		600745				8530039	Standard	NM_001646		Approved			P55056	OTTHUMG00000180845	ENST00000592954.1:c.33G>T	19.37:g.45445567G>T						APOC4-APOC2_ENST00000589057.1_Silent_p.L11L|APOC4-APOC2_ENST00000436871.1_Silent_p.L11L|APOC4_ENST00000592954.1_Silent_p.L11L|APOC4_ENST00000591600.1_Silent_p.L11L	p.L11L							1	73	+								B3KWY6|Q53YY8	Silent	SNP	ENST00000592954.1	37	c.33G>T	CCDS12649.1																																																																																				0.657	APOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453255.1	NM_001646		3	30	1	0	0.150653	1	0.162469	3	30				
APOB	338	broad.mit.edu	37	2	21231311	21231311	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr2:21231311G>T	ENST00000233242.1	-	26	8556	c.8429C>A	c.(8428-8430)gCa>gAa	p.A2810E		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2810					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGTGCATTTGCTTGAAAATC	0.453																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(8428-8430)gCa>gAa		apolipoprotein B	Atorvastatin(DB01076)						103.0	105.0	104.0					2																	21231311		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21231311G>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8429C>A	2.37:g.21231311G>T	ENSP00000233242:p.Ala2810Glu						p.A2810E	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	8556	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2810					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.8429C>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040516	0.75732	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00832	5.64	5.36	4.47	0.54385	.	0.000000	0.47093	D	0.000247	T	0.04952	0.0133	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	D	0.64595	0.927	T	0.19614	-1.0300	10	0.87932	D	0	.	15.7387	0.77866	0.0:0.1372:0.8628:0.0	.	2810	P04114	APOB_HUMAN	E	2810	ENSP00000233242:A2810E	ENSP00000233242:A2810E	A	-	2	0	APOB	21084816	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.639000	0.67868	1.239000	0.43787	0.555000	0.69702	GCA		0.453	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			42	115	1	0	2.47872e-24	1	3.24595e-24	42	115				
KRIT1	889	broad.mit.edu	37	7	91870306	91870306	+	Splice_Site	SNP	C	C	T			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr7:91870306C>T	ENST00000340022.2	-	5	1281		c.e5+1		KRIT1_ENST00000394505.2_Splice_Site|KRIT1_ENST00000394507.1_Splice_Site|KRIT1_ENST00000394503.2_Splice_Site|KRIT1_ENST00000412043.2_Splice_Site	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing						angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAGTTTCCTACCTCTGATACC	0.318																																						ENST00000394507.1																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22						c.e6+1		KRIT1, ankyrin repeat containing							162.0	148.0	153.0					7																	91870306		2203	4300	6503	SO:0001630	splice_region_variant	889				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity	g.chr7:91870306C>T	AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.262+1G>A	7.37:g.91870306C>T						KRIT1_ENST00000394503.2_Splice_Site|KRIT1_ENST00000412043.2_Splice_Site|KRIT1_ENST00000340022.2_Splice_Site|KRIT1_ENST00000394505.2_Splice_Site		NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		6	1046	-	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)							A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Splice_Site	SNP	ENST00000340022.2	37		CCDS5624.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252336	0.80135	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503;ENST00000415227;ENST00000458177;ENST00000433016;ENST00000454017;ENST00000440209;ENST00000430102	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0826	0.97783	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KRIT1	91708242	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.554000	0.73923	2.746000	0.94184	0.655000	0.94253	.		0.318	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1		Intron	28	67	0	0	0	1	0	28	67				
NOTCH3	4854	broad.mit.edu	37	19	15276765	15276765	+	Missense_Mutation	SNP	G	G	A	rs550464740		TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr19:15276765G>A	ENST00000263388.2	-	30	5575	c.5500C>T	c.(5500-5502)Cgg>Tgg	p.R1834W		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1834					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CGGTCAGTCCGTGCCCCAAGC	0.612																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(5500-5502)Cgg>Tgg		notch 3							74.0	60.0	65.0					19																	15276765		2203	4300	6503	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15276765G>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5500C>T	19.37:g.15276765G>A	ENSP00000263388:p.Arg1834Trp						p.R1834W	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		30	5575	-			1834					Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.5500C>T	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451264	0.84209	.	.	ENSG00000074181	ENST00000263388	T	0.55760	0.5	5.36	3.14	0.36123	Ankyrin repeat-containing domain (4);	0.000000	0.30011	N	0.010622	T	0.65964	0.2742	M	0.70903	2.155	0.40774	D	0.983113	D	0.69078	0.997	P	0.58820	0.846	T	0.71269	-0.4643	10	0.87932	D	0	.	13.197	0.59745	0.0:0.0:0.7091:0.2909	.	1834	Q9UM47	NOTC3_HUMAN	W	1834	ENSP00000263388:R1834W	ENSP00000263388:R1834W	R	-	1	2	NOTCH3	15137765	1.000000	0.71417	0.301000	0.25044	0.976000	0.68499	5.351000	0.66022	0.756000	0.33013	0.655000	0.94253	CGG		0.612	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		17	17	0	0	0	1	0	17	17				
TRIOBP	11078	broad.mit.edu	37	22	38121491	38121491	+	Silent	SNP	C	C	T			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr22:38121491C>T	ENST00000406386.3	+	7	3183	c.2928C>T	c.(2926-2928)gcC>gcT	p.A976A		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	976					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CATCCCGGGCCACCTCTTCCT	0.637																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(2926-2928)gcC>gcT		TRIO and F-actin binding protein							125.0	147.0	140.0					22																	38121491		2058	4185	6243	SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38121491C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2928C>T	22.37:g.38121491C>T						RP1-37E16.12_ENST00000455236.1_RNA	p.A976A	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	3183	+	Melanoma(58;0.0574)		976					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.2928C>T	CCDS43015.1																																																																																				0.637	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			5	284	0	0	0	1	0	5	284				
CMTR1	23070	broad.mit.edu	37	6	37426394	37426394	+	Silent	SNP	C	C	T			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr6:37426394C>T	ENST00000373451.4	+	9	948	c.784C>T	c.(784-786)Ctg>Ttg	p.L262L		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	262	RrmJ-type SAM-dependent 2'-O-MTase. {ECO:0000255|PROSITE-ProRule:PRU00945}.				7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)										GCAGAAGCCACTGGTGAAGGA	0.522																																						ENST00000373451.4																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						c.(784-786)Ctg>Ttg									57.0	52.0	54.0					6																	37426394		2203	4300	6503	SO:0001819	synonymous_variant	0				mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding	g.chr6:37426394C>T	BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"""G patch domain containing"""	21077	protein-coding gene	gene with protein product			"""KIAA0082"", ""FtsJ methyltransferase domain containing 2"""	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.784C>T	6.37:g.37426394C>T							p.L262L	NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN			9	948	+			262					A8K949|Q14670|Q96FJ9	Silent	SNP	ENST00000373451.4	37	c.784C>T	CCDS4835.1																																																																																				0.522	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1	NM_015050		13	22	0	0	0	1	0	13	22				
CHAMP1	283489	broad.mit.edu	37	13	115090966	115090966	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr13:115090966T>C	ENST00000361283.1	+	3	1958	c.1649T>C	c.(1648-1650)cTt>cCt	p.L550P		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	550	Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										AAACGTGCCCTTTTTCCAGAG	0.517																																						ENST00000361283.1																			0											c.(1648-1650)cTt>cCt		chromosome alignment maintaining phosphoprotein 1							211.0	240.0	230.0					13																	115090966		2203	4300	6503	SO:0001583	missense	283489				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	g.chr13:115090966T>C	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"""Zinc fingers, C2H2-type"""	20311	protein-coding gene	gene with protein product	"""chromosome alignment-maintaining phosphoprotein"""		"""chromosome 13 open reading frame 8"", ""zinc finger protein 828"""	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.1649T>C	13.37:g.115090966T>C	ENSP00000354730:p.Leu550Pro						p.L550P	NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN			3	1958	+			550			Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.		B3KU06|Q6P181|Q8NC88|Q9BST0	Missense_Mutation	SNP	ENST00000361283.1	37	c.1649T>C	CCDS9545.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.020892	0.54576	.	.	ENSG00000198824	ENST00000361283	T	0.01902	4.57	5.59	5.59	0.84812	.	0.000000	0.51477	D	0.000081	T	0.07188	0.0182	M	0.65498	2.005	0.58432	D	0.999996	P	0.51537	0.946	P	0.51777	0.679	T	0.19257	-1.0311	9	.	.	.	-17.4144	14.3423	0.66636	0.0:0.0:0.0:1.0	.	550	Q96JM3	ZN828_HUMAN	P	550	ENSP00000354730:L550P	.	L	+	2	0	ZNF828	114109068	0.995000	0.38212	0.981000	0.43875	0.990000	0.78478	3.159000	0.50731	2.126000	0.65437	0.528000	0.53228	CTT		0.517	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		4	328	0	0	0	1	0	4	328				
NFYC	4802	broad.mit.edu	37	1	41204550	41204550	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr1:41204550G>A	ENST00000308733.5	+	1	41	c.35G>A	c.(34-36)aGc>aAc	p.S12N	NFYC_ENST00000440226.3_Missense_Mutation_p.S12N|NFYC_ENST00000372652.1_Missense_Mutation_p.S12N|NFYC_ENST00000447388.3_Missense_Mutation_p.S12N|NFYC_ENST00000425457.2_Missense_Mutation_p.S12N|NFYC_ENST00000456393.2_Missense_Mutation_p.S12N|NFYC_ENST00000427410.2_Missense_Mutation_p.S12N|NFYC_ENST00000372651.1_Missense_Mutation_p.S12N|NFYC_ENST00000372654.1_Missense_Mutation_p.S12N|NFYC_ENST00000372653.1_Missense_Mutation_p.S12N			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	12					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			GGTACTAGCAGCAGTGATGCC	0.418																																						ENST00000372652.1																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15						c.(34-36)aGc>aAc		nuclear transcription factor Y, gamma							123.0	122.0	122.0					1																	41204550		2203	4300	6503	SO:0001583	missense	4802				protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:41204550G>A	U78774	CCDS455.1, CCDS44120.1, CCDS44121.1, CCDS44122.1, CCDS44123.1	1p32	2008-11-11			ENSG00000066136	ENSG00000066136			7806	protein-coding gene	gene with protein product		605344				8921405, 9249075	Standard	NM_014223		Approved	CBF-C, NF-YC	uc009vwd.3	Q13952	OTTHUMG00000007729	ENST00000308733.5:c.35G>A	1.37:g.41204550G>A	ENSP00000312617:p.Ser12Asn					NFYC_ENST00000372653.1_Missense_Mutation_p.S12N|NFYC_ENST00000427410.2_Missense_Mutation_p.S12N|NFYC_ENST00000372654.1_Missense_Mutation_p.S12N|NFYC_ENST00000308733.5_Missense_Mutation_p.S12N|NFYC_ENST00000456393.2_Missense_Mutation_p.S12N|NFYC_ENST00000425457.2_Missense_Mutation_p.S12N|NFYC_ENST00000447388.3_Missense_Mutation_p.S12N|NFYC_ENST00000372651.1_Missense_Mutation_p.S12N|NFYC_ENST00000440226.3_Missense_Mutation_p.S12N	p.S12N			Q13952	NFYC_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)		2	303	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	12					B4DUS6|B4DW63|D3DPV9|F8VWM3|Q59GY4|Q5T6K8|Q5T6K9|Q5T6L1|Q5TZR6|Q92869|Q9HBX1|Q9NXB5|Q9UM67|Q9UML0|Q9UMT7	Missense_Mutation	SNP	ENST00000308733.5	37	c.35G>A		.	.	.	.	.	.	.	.	.	.	G	18.29	3.590598	0.66219	.	.	ENSG00000066136	ENST00000427410;ENST00000447388;ENST00000425457;ENST00000453631;ENST00000456393;ENST00000372654;ENST00000534399;ENST00000372653;ENST00000372669;ENST00000372652;ENST00000372651;ENST00000531464;ENST00000440226;ENST00000525290;ENST00000530965;ENST00000416859;ENST00000308733	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.47177	0.85;1.46;1.45;0.89;1.48;1.46;1.5;2.46;1.47;1.46;1.46;0.89;0.88;1.42	5.93	5.93	0.95920	Histone-fold (1);	0.207942	0.64402	D	0.000014	T	0.34019	0.0883	N	0.11927	0.2	0.45541	D	0.99849	B;B;B;B;B;B;B;B	0.32245	0.065;0.018;0.361;0.039;0.275;0.065;0.065;0.281	B;B;B;B;B;B;B;B	0.30646	0.038;0.025;0.118;0.01;0.076;0.038;0.038;0.075	T	0.24190	-1.0167	10	0.59425	D	0.04	.	17.8477	0.88736	0.0:0.0:1.0:0.0	.	12;12;12;12;12;12;12;12	B4DW63;B4DVS8;Q13952;Q5T6K9;Q13952-3;F8VWM3;Q13952-2;B4DUS6	.;.;NFYC_HUMAN;.;.;.;.;.	N	12	ENSP00000408315:S12N;ENSP00000404427:S12N;ENSP00000396620:S12N;ENSP00000397647:S12N;ENSP00000408867:S12N;ENSP00000361738:S12N;ENSP00000361737:S12N;ENSP00000361754:S12N;ENSP00000361736:S12N;ENSP00000361734:S12N;ENSP00000414299:S12N;ENSP00000436710:S12N;ENSP00000409219:S12N;ENSP00000312617:S12N	ENSP00000312617:S12N	S	+	2	0	NFYC	40977137	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.446000	0.60014	2.826000	0.97356	0.655000	0.94253	AGC		0.418	NFYC-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000020802.1	NM_014223		3	65	0	0	0	1	0	3	65				
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A	rs558808115		TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr4:146059006G>A	ENST00000447906.2	-	21	3108	c.2921C>T	c.(2920-2922)aCt>aTt	p.T974I	OTUD4_ENST00000454497.2_Missense_Mutation_p.T909I|OTUD4_ENST00000455611.2_Intron			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	974					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2725-2727)aCt>aTt		OTU domain containing 4							128.0	133.0	131.0					4																	146059006		2203	4300	6503	SO:0001583	missense	54726						protein binding	g.chr4:146059006G>A		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2921C>T	4.37:g.146059006G>A	ENSP00000395487:p.Thr974Ile					OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I	p.T909I	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	2863	-	all_hematologic(180;0.151)		973					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.2726C>T		.	.	.	.	.	.	.	.	.	.	G	13.28	2.191504	0.38707	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.34275	1.37;1.37	6.17	5.33	0.75918	.	1.059000	0.07258	N	0.867023	T	0.32793	0.0841	N	0.24115	0.695	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.14023	0.01;0.004	T	0.02275	-1.1184	10	0.59425	D	0.04	-0.3286	15.5098	0.75772	0.0658:0.0:0.9342:0.0	.	974;973	G3V0I6;Q01804	.;OTUD4_HUMAN	I	909;974	ENSP00000409279:T909I;ENSP00000395487:T974I	ENSP00000395487:T974I	T	-	2	0	OTUD4	146278456	0.027000	0.19231	0.108000	0.21378	0.880000	0.50808	2.210000	0.42816	1.621000	0.50320	0.655000	0.94253	ACT		0.463	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		7	151	0	0	0	1	0	7	151				
C3orf79	152118	broad.mit.edu	37	3	153202433	153202433	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr3:153202433A>C	ENST00000446603.2	+	1	150	c.88A>C	c.(88-90)Act>Cct	p.T30P	RP11-23D24.2_ENST00000493214.2_RNA	NM_001101337.1	NP_001094807.1	P0CE67	CC079_HUMAN	chromosome 3 open reading frame 79	30										endometrium(1)|large_intestine(3)	4						TCTTCTGCCTACTCCTGAGCT	0.433																																						ENST00000446603.2																			0				endometrium(1)|large_intestine(3)	4						c.(88-90)Act>Cct		chromosome 3 open reading frame 79							277.0	263.0	268.0					3																	153202433		1923	4141	6064	SO:0001583	missense	152118							g.chr3:153202433A>C	AF086445	CCDS46937.1	3q25.2	2009-09-30			ENSG00000237787	ENSG00000237787			37259	protein-coding gene	gene with protein product							Standard	NM_001101337		Approved		uc003ezt.3	P0CE67	OTTHUMG00000159629	ENST00000446603.2:c.88A>C	3.37:g.153202433A>C	ENSP00000389475:p.Thr30Pro					RP11-23D24.2_ENST00000493214.2_RNA	p.T30P	NM_001101337.1	NP_001094807.1	P0CE67	CC079_HUMAN			1	150	+			30						Missense_Mutation	SNP	ENST00000446603.2	37	c.88A>C	CCDS46937.1	.	.	.	.	.	.	.	.	.	.	A	9.449	1.089976	0.20390	.	.	ENSG00000237787	ENST00000446603	.	.	.	3.23	-4.39	0.03611	.	.	.	.	.	T	0.14570	0.0352	N	0.08118	0	0.09310	N	1	B	0.24258	0.1	B	0.24848	0.056	T	0.21930	-1.0231	8	0.87932	D	0	.	1.3829	0.02234	0.2713:0.1752:0.382:0.1715	.	30	P0CE67	CC079_HUMAN	P	30	.	ENSP00000389475:T30P	T	+	1	0	C3orf79	154685123	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.559000	0.05971	-0.931000	0.03746	0.533000	0.62120	ACT		0.433	C3orf79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356570.1	NM_001101337		124	154	0	0	0	1	0	124	154				
INO80	54617	broad.mit.edu	37	15	41272519	41272519	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr15:41272519G>T	ENST00000361937.3	-	36	4997	c.4573C>A	c.(4573-4575)Cct>Act	p.P1525T	INO80_ENST00000401393.3_Missense_Mutation_p.P1525T			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1525	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GGATTCCCAGGAACATTATTT	0.557																																						ENST00000361937.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(4573-4575)Cct>Act		INO80 complex subunit							106.0	105.0	105.0					15																	41272519		2203	4300	6503	SO:0001583	missense	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41272519G>T	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.4573C>A	15.37:g.41272519G>T	ENSP00000355205:p.Pro1525Thr					INO80_ENST00000401393.3_Missense_Mutation_p.P1525T	p.P1525T			Q9ULG1	INO80_HUMAN			36	4997	-			1525			Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.		A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	c.4573C>A	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.321142	0.23994	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.90261	-2.64;-2.64	5.4	5.4	0.78164	.	0.323200	0.33253	N	0.005118	T	0.78585	0.4306	N	0.08118	0	0.32477	N	0.542041	B	0.23058	0.079	B	0.16289	0.015	T	0.76512	-0.2932	10	0.44086	T	0.13	.	7.9123	0.29798	0.1303:0.0:0.8697:0.0	.	1525	Q9ULG1	INO80_HUMAN	T	1525	ENSP00000355205:P1525T;ENSP00000384686:P1525T	ENSP00000355205:P1525T	P	-	1	0	INO80	39059811	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.262000	0.51538	2.814000	0.96858	0.655000	0.94253	CCT		0.557	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		29	43	1	0	5.61819e-17	1	6.85145e-17	29	43				
FOXA1	3169	broad.mit.edu	37	14	38061229	38061229	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr14:38061229A>C	ENST00000250448.2	-	2	821	c.760T>G	c.(760-762)Ttc>Gtc	p.F254V	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.F221V	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	254					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CCGTTCTCGAACATGTTGCCG	0.692																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(760-762)Ttc>Gtc		forkhead box A1							25.0	25.0	25.0					14																	38061229		2203	4300	6503	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061229A>C	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.760T>G	14.37:g.38061229A>C	ENSP00000250448:p.Phe254Val					FOXA1_ENST00000540786.1_Missense_Mutation_p.F221V|FOXA1_ENST00000545425.2_5'UTR	p.F254V	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	821	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		254					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.760T>G	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.568050	0.86439	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.95918	-3.85;-3.85	3.92	3.92	0.45320	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.97682	0.9240	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98179	1.0456	10	0.87932	D	0	.	11.8486	0.52399	1.0:0.0:0.0:0.0	.	254	P55317	FOXA1_HUMAN	V	254;221	ENSP00000250448:F254V;ENSP00000440178:F221V	ENSP00000250448:F254V	F	-	1	0	FOXA1	37130980	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.933000	0.92911	1.648000	0.50643	0.329000	0.21502	TTC		0.692	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			10	16	0	0	0	1	0	10	16				
HLA-DRA	3122	broad.mit.edu	37	6	32411650	32411650	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr6:32411650G>A	ENST00000374982.5	+	4	726	c.653G>A	c.(652-654)cGc>cAc	p.R218H	HLA-DRA_ENST00000395388.2_Missense_Mutation_p.R243H			P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	243					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002504)|cognition (GO:0050890)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|polysaccharide assembly with MHC class II protein complex (GO:0002506)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						AAGGGATTGCGCAAAAGCAAT	0.537									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of																													ENST00000395388.2																			0				NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						c.(727-729)cGc>cAc		major histocompatibility complex, class II, DR alpha							141.0	127.0	132.0					6																	32411650		1511	2709	4220	SO:0001583	missense	3122	T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32411650G>A		CCDS4750.1	6p21.3	2013-01-11			ENSG00000204287	ENSG00000204287		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4947	protein-coding gene	gene with protein product		142860		HLA-DRA1			Standard	NM_019111		Approved		uc003obh.3	P01903	OTTHUMG00000031269	ENST00000374982.5:c.653G>A	6.37:g.32411650G>A	ENSP00000364121:p.Arg218His					HLA-DRA_ENST00000374982.5_Missense_Mutation_p.R218H	p.R243H	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN			4	837	+			243					A2BET4|Q30160|Q6IAZ1|Q861I2|Q9TP70	Missense_Mutation	SNP	ENST00000374982.5	37	c.728G>A		.	.	.	.	.	.	.	.	.	.	.	13.43	2.234638	0.39498	.	.	ENSG00000204287	ENST00000395388;ENST00000374982	T;T	0.02258	4.37;4.64	5.36	-0.67	0.11384	.	0.860159	0.10129	N	0.712374	T	0.01124	0.0037	M	0.62016	1.91	0.09310	N	1	B;B	0.14012	0.007;0.009	B;B	0.12156	0.005;0.007	T	0.39461	-0.9613	10	0.62326	D	0.03	.	9.3498	0.38131	0.418:0.0:0.582:0.0	.	218;243	Q30118;P01903	.;DRA_HUMAN	H	243;218	ENSP00000378786:R243H;ENSP00000364121:R218H	ENSP00000364121:R218H	R	+	2	0	HLA-DRA	32519628	0.073000	0.21202	0.001000	0.08648	0.208000	0.24298	0.665000	0.25083	-0.333000	0.08476	0.573000	0.79308	CGC		0.537	HLA-DRA-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000076587.3	NM_019111		39	46	0	0	0	1	0	39	46				
POM121L12	285877	broad.mit.edu	37	7	53104151	53104151	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr7:53104151G>A	ENST00000408890.4	+	1	803	c.787G>A	c.(787-789)Gcc>Acc	p.A263T		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	263										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGCCCCATCCGCCATCTGGGA	0.662																																						ENST00000408890.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(787-789)Gcc>Acc		POM121 transmembrane nucleoporin-like 12							49.0	55.0	53.0					7																	53104151		2014	4176	6190	SO:0001583	missense	285877							g.chr7:53104151G>A		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.787G>A	7.37:g.53104151G>A	ENSP00000386133:p.Ala263Thr						p.A263T	NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN			1	803	+			263					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.787G>A	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381964	0.42207	.	.	ENSG00000221900	ENST00000408890	T	0.30714	1.52	2.16	-0.192	0.13248	.	.	.	.	.	T	0.10766	0.0263	N	0.08118	0	0.09310	N	1	P	0.37997	0.614	B	0.23275	0.045	T	0.15723	-1.0427	9	0.72032	D	0.01	.	4.2117	0.10514	0.5664:0.0:0.4336:0.0	.	263	Q8N7R1	P1L12_HUMAN	T	263	ENSP00000386133:A263T	ENSP00000386133:A263T	A	+	1	0	POM121L12	53071645	0.007000	0.16637	0.000000	0.03702	0.004000	0.04260	1.338000	0.33873	-0.041000	0.13558	0.561000	0.74099	GCC		0.662	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		53	34	0	0	0	1	0	53	34				
CNTN3	5067	broad.mit.edu	37	3	74474079	74474079	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr3:74474079A>T	ENST00000263665.6	-	4	398	c.371T>A	c.(370-372)tTt>tAt	p.F124Y		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	124	Ig-like C2-type 2.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TTTGGTTTTAAAATTTTCAAG	0.398																																						ENST00000263665.6																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(370-372)tTt>tAt		contactin 3 (plasmacytoma associated)							50.0	49.0	49.0					3																	74474079		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74474079A>T	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.371T>A	3.37:g.74474079A>T	ENSP00000263665:p.Phe124Tyr						p.F124Y	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	4	398	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	124			Ig-like C2-type 2.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.371T>A	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.518138	0.85495	.	.	ENSG00000113805	ENST00000263665	T	0.76448	-1.02	4.98	4.98	0.66077	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.127542	0.56097	D	0.000029	D	0.89259	0.6664	H	0.95539	3.685	0.50171	D	0.999855	P	0.52061	0.95	P	0.56343	0.796	D	0.91991	0.5603	10	0.72032	D	0.01	.	12.9418	0.58350	1.0:0.0:0.0:0.0	.	124	Q9P232	CNTN3_HUMAN	Y	124	ENSP00000263665:F124Y	ENSP00000263665:F124Y	F	-	2	0	CNTN3	74556769	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.006000	0.63978	2.005000	0.58758	0.448000	0.29417	TTT		0.398	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		8	11	0	0	0	1	0	8	11				
NAV2	89797	broad.mit.edu	37	11	19735327	19735327	+	Missense_Mutation	SNP	C	C	A	rs374708050		TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr11:19735327C>A	ENST00000396087.3	+	1	185	c.86C>A	c.(85-87)cCg>cAg	p.P29Q	NAV2_ENST00000360655.4_Intron|RP11-359E10.1_ENST00000603468.1_lincRNA|NAV2_ENST00000349880.4_Missense_Mutation_p.P29Q|NAV2_ENST00000396085.1_Missense_Mutation_p.P29Q	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	29					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CACGTgcccccggcccgggcg	0.657																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(85-87)cCg>cAg		neuron navigator 2							19.0	21.0	20.0					11																	19735327		2195	4287	6482	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:19735327C>A	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.86C>A	11.37:g.19735327C>A	ENSP00000379396:p.Pro29Gln					NAV2_ENST00000360655.4_Intron|NAV2_ENST00000396087.3_Missense_Mutation_p.P29Q|NAV2_ENST00000349880.4_Missense_Mutation_p.P29Q	p.P29Q	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			1	447	+			29					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.86C>A	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.172636	0.57584	.	.	ENSG00000166833	ENST00000396085;ENST00000349880;ENST00000396087	T;T;T	0.59502	0.26;0.26;0.26	5.37	4.36	0.52297	.	0.466193	0.19644	N	0.109391	T	0.36138	0.0956	N	0.08118	0	0.80722	D	1	B	0.30542	0.284	B	0.32762	0.152	T	0.19943	-1.0290	9	.	.	.	.	12.3205	0.54981	0.0:0.884:0.0:0.116	.	29	Q8IVL1-3	.	Q	29	ENSP00000379394:P29Q;ENSP00000309577:P29Q;ENSP00000379396:P29Q	.	P	+	2	0	NAV2	19691903	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.805000	0.47939	2.520000	0.84964	0.561000	0.74099	CCG		0.657	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		9	16	1	0	0.000274275	1	0.00030475	9	16				
NETO1	81832	broad.mit.edu	37	18	70461444	70461444	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr18:70461444C>A	ENST00000327305.6	-	6	1204	c.547G>T	c.(547-549)Gtg>Ttg	p.V183L	NETO1_ENST00000583169.1_Missense_Mutation_p.V183L|NETO1_ENST00000299430.2_Missense_Mutation_p.V182L	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	183	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		ATAGACTCCACAATTCCTTCG	0.433																																						ENST00000327305.6																			0				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63						c.(547-549)Gtg>Ttg		neuropilin (NRP) and tolloid (TLL)-like 1							124.0	114.0	117.0					18																	70461444		2203	4300	6503	SO:0001583	missense	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70461444C>A	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.547G>T	18.37:g.70461444C>A	ENSP00000313088:p.Val183Leu					NETO1_ENST00000299430.2_Missense_Mutation_p.V182L|NETO1_ENST00000583169.1_Missense_Mutation_p.V183L	p.V183L	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	6	1204	-		Esophageal squamous(42;0.129)	183			CUB 2.		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.547G>T	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069509	0.55539	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.34667	1.35;1.35	5.29	5.29	0.74685	CUB (4);	0.123437	0.36167	N	0.002752	T	0.34337	0.0894	L	0.50333	1.59	0.80722	D	1	B;B	0.23891	0.093;0.025	B;B	0.27715	0.082;0.057	T	0.10613	-1.0622	10	0.38643	T	0.18	-17.7823	12.3093	0.54920	0.0:0.9222:0.0:0.0778	.	182;183	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	L	183;182	ENSP00000313088:V183L;ENSP00000299430:V182L	ENSP00000299430:V182L	V	-	1	0	NETO1	68612424	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.465000	0.60141	2.462000	0.83206	0.655000	0.94253	GTG		0.433	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		3	58	1	0	1	1	1	3	58				
CCT8	10694	broad.mit.edu	37	21	30440001	30440001	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr21:30440001A>G	ENST00000286788.4	-	4	463	c.257T>C	c.(256-258)aTt>aCt	p.I86T	CCT8_ENST00000540844.1_Missense_Mutation_p.I13T|CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000542732.1_Missense_Mutation_p.I67T	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	86					'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						AGCCATTACAATCATTTTTGC	0.368																																						ENST00000286788.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						c.(256-258)aTt>aCt		chaperonin containing TCP1, subunit 8 (theta)							85.0	81.0	83.0					21																	30440001		2203	4300	6503	SO:0001583	missense	10694				'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding	g.chr21:30440001A>G	Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"""Heat Shock Proteins / Chaperonins"""	1623	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 112"""	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595	ENST00000286788.4:c.257T>C	21.37:g.30440001A>G	ENSP00000286788:p.Ile86Thr					CCT8_ENST00000542732.1_Missense_Mutation_p.I67T|CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000540844.1_Missense_Mutation_p.I13T	p.I86T	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN			4	463	-			86					A6NN54|B4DEM7|B4DQH4|Q4VBP8	Missense_Mutation	SNP	ENST00000286788.4	37	c.257T>C	CCDS33528.1	.	.	.	.	.	.	.	.	.	.	A	18.84	3.708472	0.68615	.	.	ENSG00000156261	ENST00000389159;ENST00000286788;ENST00000542732;ENST00000540844	T;T;T	0.14516	2.5;2.5;2.5	5.54	5.54	0.83059	.	0.351109	0.31145	N	0.008180	T	0.26484	0.0647	M	0.77820	2.39	0.53005	D	0.999965	P;B;P;B;B	0.40398	0.716;0.447;0.498;0.442;0.34	B;B;B;B;B	0.43867	0.355;0.434;0.355;0.241;0.113	T	0.03103	-1.1072	10	0.87932	D	0	-15.9753	15.9755	0.80060	1.0:0.0:0.0:0.0	.	13;67;86;86;86	B4DQH4;B4DEM7;Q53HU0;G5E9B2;P50990	.;.;.;.;TCPQ_HUMAN	T	86;86;67;13	ENSP00000286788:I86T;ENSP00000444984:I67T;ENSP00000442730:I13T	ENSP00000286788:I86T	I	-	2	0	CCT8	29361872	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	8.953000	0.93041	2.219000	0.72066	0.528000	0.53228	ATT		0.368	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171822.1			5	87	0	0	0	1	0	5	87				
VPS33B	26276	broad.mit.edu	37	15	91549633	91549633	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr15:91549633C>A	ENST00000333371.3	-	11	1174	c.821G>T	c.(820-822)aGc>aTc	p.S274I	VPS33B_ENST00000535906.1_Missense_Mutation_p.S247I|VPS33B_ENST00000535843.1_Missense_Mutation_p.S183I	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	274					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					CACCTTCAGGCTCTTGTCAGA	0.562																																						ENST00000333371.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16						c.(820-822)aGc>aTc		vacuolar protein sorting 33 homolog B (yeast)							102.0	99.0	100.0					15																	91549633		2198	4298	6496	SO:0001583	missense	26276				cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding	g.chr15:91549633C>A	AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"""vacuolar protein sorting 33B (yeast homolog)"""			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.821G>T	15.37:g.91549633C>A	ENSP00000327650:p.Ser274Ile					VPS33B_ENST00000535906.1_Missense_Mutation_p.S247I|VPS33B_ENST00000535843.1_Missense_Mutation_p.S183I	p.S274I	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN			11	1174	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		274					B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Missense_Mutation	SNP	ENST00000333371.3	37	c.821G>T	CCDS10369.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.151671	0.78001	.	.	ENSG00000184056	ENST00000333371;ENST00000535906;ENST00000535843;ENST00000537510	T;T;T	0.77098	-1.07;-1.07;-1.07	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.77478	0.4136	L	0.50333	1.59	0.80722	D	1	B;P	0.34562	0.402;0.457	B;B	0.40901	0.295;0.343	T	0.75819	-0.3183	10	0.40728	T	0.16	-16.9692	17.0004	0.86380	0.0:1.0:0.0:0.0	.	247;274	F5H008;Q9H267	.;VP33B_HUMAN	I	274;247;183;229	ENSP00000327650:S274I;ENSP00000444053:S247I;ENSP00000446267:S183I	ENSP00000327650:S274I	S	-	2	0	VPS33B	89350637	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.789000	0.62446	2.776000	0.95493	0.655000	0.94253	AGC		0.562	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313496.1	NM_018668		4	106	1	0	1	1	1	4	106				
CEP41	95681	broad.mit.edu	37	7	130042551	130042551	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr7:130042551C>A	ENST00000223208.5	-	7	782	c.512G>T	c.(511-513)tGc>tTc	p.C171F	CEP41_ENST00000343969.5_Missense_Mutation_p.C171F|CEP41_ENST00000541543.1_Missense_Mutation_p.C155F	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	171	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein polyglutamylation (GO:0018095)|protein transport (GO:0015031)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|primary cilium (GO:0072372)											CAGGAAGGGGCAGTCAGGATA	0.488																																						ENST00000223208.4																			0											c.(511-513)tGc>tTc		centrosomal protein 41kDa							300.0	265.0	277.0					7																	130042551		2203	4300	6503	SO:0001583	missense	95681				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr7:130042551C>A	AJ278890	CCDS5821.1, CCDS59078.1, CCDS59079.1, CCDS59080.1	7q32	2014-02-20	2011-10-04	2011-10-04	ENSG00000106477	ENSG00000106477			12370	protein-coding gene	gene with protein product		610523	"""testis specific, 14"""	TSGA14		14654843, 22246503	Standard	NM_018718		Approved	DKFZp762H1311, FLJ22445, JBTS15	uc003vpz.4	Q9BYV8	OTTHUMG00000157823	ENST00000223208.5:c.512G>T	7.37:g.130042551C>A	ENSP00000223208:p.Cys171Phe					CEP41_ENST00000541543.1_Missense_Mutation_p.C155F|CEP41_ENST00000343969.5_Missense_Mutation_p.C171F	p.C171F	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN			7	782	-			171			Rhodanese.		A4D1M0|B4DQ35|F5H0V6|Q7Z496|Q86TM1|Q8NFU8|Q9H6A3|Q9NPV3	Missense_Mutation	SNP	ENST00000223208.5	37	c.512G>T	CCDS5821.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691495	0.88735	.	.	ENSG00000106477	ENST00000223208;ENST00000541543;ENST00000343969;ENST00000492389;ENST00000472739;ENST00000477003;ENST00000475282	D;D;D;T;D;D;D	0.89485	-2.52;-2.18;-2.49;1.8;-2.16;-2.19;-2.3	5.83	5.83	0.93111	Rhodanese-like (3);	0.000000	0.85682	D	0.000000	D	0.88492	0.6451	L	0.34521	1.04	0.80722	D	1	D;P;P	0.57899	0.981;0.539;0.767	P;B;B	0.50049	0.629;0.19;0.288	D	0.89522	0.3779	10	0.72032	D	0.01	-17.3092	18.7012	0.91620	0.0:1.0:0.0:0.0	.	155;171;171	F5H0V6;Q9BYV8-2;Q9BYV8	.;.;CEP41_HUMAN	F	171;155;171;136;136;168;136	ENSP00000223208:C171F;ENSP00000445888:C155F;ENSP00000342738:C171F;ENSP00000419192:C136F;ENSP00000417593:C136F;ENSP00000420670:C168F;ENSP00000418363:C136F	ENSP00000223208:C171F	C	-	2	0	TSGA14	129829787	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.698000	0.84413	2.763000	0.94921	0.563000	0.77884	TGC		0.488	CEP41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349702.2	NM_018718		4	247	1	0	0.00024832	1	0.000282182	4	247				
MUC16	94025	broad.mit.edu	37	19	9057080	9057080	+	Silent	SNP	G	G	T	rs377149070		TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr19:9057080G>T	ENST00000397910.4	-	3	30569	c.30366C>A	c.(30364-30366)atC>atA	p.I10122I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10124	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTCCGAGTGGATTGAAACAG	0.463																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(30364-30366)atC>atA		mucin 16, cell surface associated		G		0,3878		0,0,1939	76.0	74.0	74.0		30366	-2.1	0.0	19		74	1,8293		0,1,4146	no	coding-synonymous	MUC16	NM_024690.2		0,1,6085	TT,TG,GG		0.0121,0.0,0.0082		10122/14508	9057080	1,12171	1939	4147	6086	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9057080G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.30366C>A	19.37:g.9057080G>T							p.I10122I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	30569	-			10124			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.30366C>A	CCDS54212.1																																																																																				0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		15	32	1	0	2.62699e-14	1	3.12737e-14	15	32				
FNBP4	23360	broad.mit.edu	37	11	47758292	47758292	+	Splice_Site	SNP	G	G	C			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr11:47758292G>C	ENST00000263773.5	-	9	1469	c.1457C>G	c.(1456-1458)gCa>gGa	p.A486G	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	486						nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						AGCACCAATTGCTGTAAAAAA	0.303																																						ENST00000263773.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						c.e9-1		formin binding protein 4							82.0	69.0	73.0					11																	47758292		1788	4059	5847	SO:0001630	splice_region_variant	23360							g.chr11:47758292G>C	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.1457-1C>G	11.37:g.47758292G>C						FNBP4_ENST00000534003.1_5'UTR	p.A486_splice	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN			9	1469	-			486					Q9H985|Q9NT81|Q9Y2L7	Splice_Site	SNP	ENST00000263773.5	37	c.1456_splice	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381727	0.42207	.	.	ENSG00000109920	ENST00000263773	T	0.32988	1.43	5.66	0.347	0.16022	.	0.353248	0.30999	N	0.008457	T	0.16342	0.0393	N	0.20986	0.625	0.19575	N	0.999968	B	0.12630	0.006	B	0.08055	0.003	T	0.12553	-1.0543	10	0.49607	T	0.09	.	5.2307	0.15420	0.3224:0.1371:0.5405:0.0	.	486	Q8N3X1	FNBP4_HUMAN	G	486	ENSP00000263773:A486G	ENSP00000263773:A486G	A	-	2	0	FNBP4	47714868	0.184000	0.23200	0.006000	0.13384	0.650000	0.38633	0.329000	0.19698	-0.105000	0.12132	-0.143000	0.13931	GCA		0.303	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3		Missense_Mutation	3	0	0	0	0	1	0	3	0				
NOTCH3	4854	broad.mit.edu	37	19	15276765	15276765	+	Missense_Mutation	SNP	G	G	A	rs550464740		TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr19:15276765G>A	ENST00000263388.2	-	30	5575	c.5500C>T	c.(5500-5502)Cgg>Tgg	p.R1834W		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1834					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CGGTCAGTCCGTGCCCCAAGC	0.612																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(5500-5502)Cgg>Tgg		notch 3							74.0	60.0	65.0					19																	15276765		2203	4300	6503	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15276765G>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5500C>T	19.37:g.15276765G>A	ENSP00000263388:p.Arg1834Trp						p.R1834W	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		30	5575	-			1834					Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.5500C>T	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451264	0.84209	.	.	ENSG00000074181	ENST00000263388	T	0.55760	0.5	5.36	3.14	0.36123	Ankyrin repeat-containing domain (4);	0.000000	0.30011	N	0.010622	T	0.65964	0.2742	M	0.70903	2.155	0.40774	D	0.983113	D	0.69078	0.997	P	0.58820	0.846	T	0.71269	-0.4643	10	0.87932	D	0	.	13.197	0.59745	0.0:0.0:0.7091:0.2909	.	1834	Q9UM47	NOTC3_HUMAN	W	1834	ENSP00000263388:R1834W	ENSP00000263388:R1834W	R	-	1	2	NOTCH3	15137765	1.000000	0.71417	0.301000	0.25044	0.976000	0.68499	5.351000	0.66022	0.756000	0.33013	0.655000	0.94253	CGG		0.612	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		17	17	0	0	0	1	0	17	17				
SYCP2L	221711	broad.mit.edu	37	6	10928671	10928671	+	Silent	SNP	C	C	T	rs377724008		TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr6:10928671C>T	ENST00000283141.6	+	18	1772	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	492						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			tccctgacttcccgcaacaAC	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		18183	0.0		0.0	False		,,,				2504	0.001					ENST00000283141.6																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(1474-1476)ttC>ttT		synaptonemal complex protein 2-like		C		1,3779		0,1,1889	85.0	90.0	88.0		1476	-0.1	0.0	6		88	0,8198		0,0,4099	no	coding-synonymous	SYCP2L	NM_001040274.2		0,1,5988	TT,TC,CC		0.0,0.0265,0.0083		492/813	10928671	1,11977	1890	4099	5989	SO:0001819	synonymous_variant	221711					nucleus		g.chr6:10928671C>T	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.1476C>T	6.37:g.10928671C>T						RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	p.F492F	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	Epithelial(50;0.239)		18	1772	+	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	492					A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Silent	SNP	ENST00000283141.6	37	c.1476C>T	CCDS43423.1																																																																																				0.498	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299		24	25	0	0	0	1	0	24	25				
ELOVL6	79071	broad.mit.edu	37	4	110972803	110972803	+	Silent	SNP	T	T	C			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr4:110972803T>C	ENST00000394607.3	-	5	652	c.489A>G	c.(487-489)ggA>ggG	p.G163G	ELOVL6_ENST00000302274.3_Silent_p.G163G			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	163					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty acid biosynthetic process (GO:0042759)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		TGAACCAACCTCCCCCGGCAA	0.517																																						ENST00000394607.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(487-489)ggA>ggG		ELOVL fatty acid elongase 6							65.0	58.0	61.0					4																	110972803		2203	4300	6503	SO:0001819	synonymous_variant	79071				fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding	g.chr4:110972803T>C	AK027031	CCDS3690.1	4q25	2011-05-25	2011-05-25		ENSG00000170522	ENSG00000170522			15829	protein-coding gene	gene with protein product		611546	"""ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"""			11567032	Standard	NM_024090		Approved	FLJ23378, MGC5487, LCE	uc003hzz.3	Q9H5J4	OTTHUMG00000132547	ENST00000394607.3:c.489A>G	4.37:g.110972803T>C						ELOVL6_ENST00000302274.3_Silent_p.G163G	p.G163G			Q9H5J4	ELOV6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00462)	5	652	-			163					Q4W5L0|Q8NCD1	Silent	SNP	ENST00000394607.3	37	c.489A>G	CCDS3690.1																																																																																				0.517	ELOVL6-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255748.1	NM_024090		3	53	0	0	0	1	0	3	53				
ADRA1B	147	broad.mit.edu	37	5	159344742	159344742	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr5:159344742G>A	ENST00000306675.3	+	1	953	c.830G>A	c.(829-831)aGt>aAt	p.S277N		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	277					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|adult heart development (GO:0007512)|behavioral response to cocaine (GO:0048148)|blood vessel remodeling (GO:0001974)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|multicellular organismal development (GO:0007275)|negative regulation of glycogen catabolic process (GO:0045818)|organ growth (GO:0035265)|positive regulation of glycogen catabolic process (GO:0045819)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of the force of heart contraction by epinephrine-norepinephrine (GO:0001997)|regulation of cardiac muscle contraction (GO:0055117)|regulation of vasoconstriction (GO:0019229)|response to amphetamine (GO:0001975)|response to morphine (GO:0043278)|vasoconstriction of artery involved in baroreceptor response to lowering of systemic arterial blood pressure (GO:0001987)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)|protein heterodimerization activity (GO:0046982)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acepromazine(DB01614)|Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Dapiprazole(DB00298)|Desipramine(DB01151)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Ziprasidone(DB00246)	AACCCCAGGAGTTCCATAGCT	0.502																																						ENST00000306675.3																			0				endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(829-831)aGt>aAt		adrenoceptor alpha 1B	Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)						85.0	87.0	86.0					5																	159344742		2203	4300	6503	SO:0001583	missense	147				cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr5:159344742G>A	L31773	CCDS4347.1	5q33.3	2012-08-08	2012-05-09		ENSG00000170214	ENSG00000170214		"""GPCR / Class A : Adrenoceptors : alpha"""	278	protein-coding gene	gene with protein product		104220	"""adrenergic, alpha-1B-, receptor"""				Standard	XM_005265818		Approved		uc003lxt.1	P35368	OTTHUMG00000130327	ENST00000306675.3:c.830G>A	5.37:g.159344742G>A	ENSP00000306662:p.Ser277Asn						p.S277N	NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	953	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	277					B0LPE1	Missense_Mutation	SNP	ENST00000306675.3	37	c.830G>A	CCDS4347.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.418360	0.25552	.	.	ENSG00000170214	ENST00000306675	T	0.62788	0.0	5.93	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.164536	0.64402	D	0.000001	T	0.55465	0.1922	L	0.58925	1.835	0.43503	D	0.995759	B	0.14805	0.011	B	0.21151	0.033	T	0.53279	-0.8461	10	0.39692	T	0.17	.	8.4512	0.32871	0.1512:0.0:0.8488:0.0	.	277	P35368	ADA1B_HUMAN	N	277	ENSP00000306662:S277N	ENSP00000306662:S277N	S	+	2	0	ADRA1B	159277320	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.408000	0.66368	2.826000	0.97356	0.655000	0.94253	AGT		0.502	ADRA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252676.1			3	118	0	0	0	1	0	3	118				
OTUD4	54726	broad.mit.edu	37	4	146059041	146059041	+	Silent	SNP	A	A	G			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr4:146059041A>G	ENST00000447906.2	-	21	3073	c.2886T>C	c.(2884-2886)caT>caC	p.H962H	OTUD4_ENST00000454497.2_Silent_p.H897H|OTUD4_ENST00000455611.2_Intron			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	962					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GAGTGGGAGGATGAGCCTTTC	0.478																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2689-2691)caT>caC		OTU domain containing 4							118.0	118.0	118.0					4																	146059041		2203	4300	6503	SO:0001819	synonymous_variant	54726						protein binding	g.chr4:146059041A>G		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2886T>C	4.37:g.146059041A>G						OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Silent_p.H962H	p.H897H	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	2828	-	all_hematologic(180;0.151)		961					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Silent	SNP	ENST00000447906.2	37	c.2691T>C																																																																																					0.478	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		7	145	0	0	0	1	0	7	145				
SDK1	221935	broad.mit.edu	37	7	3990593	3990593	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr7:3990593G>T	ENST00000404826.2	+	6	1025	c.886G>T	c.(886-888)Gtg>Ttg	p.V296L	SDK1_ENST00000389531.3_Missense_Mutation_p.V296L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	296	Ig-like C2-type 3.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCAACCATTGTGGTTCCCCC	0.552																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(886-888)Gtg>Ttg		sidekick cell adhesion molecule 1							103.0	78.0	87.0					7																	3990593		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:3990593G>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.886G>T	7.37:g.3990593G>T	ENSP00000385899:p.Val296Leu					SDK1_ENST00000389531.3_Missense_Mutation_p.V296L	p.V296L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	6	1025	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	296			Ig-like C2-type 3.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.886G>T	CCDS34590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.91|18.91	3.723522|3.723522	0.68959|0.68959	.|.	.|.	ENSG00000146555|ENSG00000146555	ENST00000426596|ENST00000404826;ENST00000389531	.|T;T	.|0.03094	.|4.05;4.05	5.61|5.61	5.61|5.61	0.85477|0.85477	.|Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.64402	.|D	.|0.000013	T|T	0.13841|0.13841	0.0335|0.0335	L|L	0.42632|0.42632	1.34|1.34	0.47994|0.47994	D|D	0.999561|0.999561	.|D	.|0.71674	.|0.998	.|D	.|0.83275	.|0.996	T|T	0.00300|0.00300	-1.1835|-1.1835	5|10	.|0.62326	.|D	.|0.03	.|.	17.8203|17.8203	0.88648|0.88648	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|296	.|Q7Z5N4	.|SDK1_HUMAN	F|L	14|296	.|ENSP00000385899:V296L;ENSP00000374182:V296L	.|ENSP00000374182:V296L	L|V	+|+	3|1	2|0	SDK1|SDK1	3957119|3957119	1.000000|1.000000	0.71417|0.71417	0.308000|0.308000	0.25141|0.25141	0.514000|0.514000	0.34195|0.34195	4.957000|4.957000	0.63652|0.63652	2.632000|2.632000	0.89209|0.89209	0.655000|0.655000	0.94253|0.94253	TTG|GTG		0.552	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		30	49	1	0	2.42023e-17	1	3.10286e-17	30	49				
DOCK7	85440	broad.mit.edu	37	1	62941378	62941378	+	Splice_Site	SNP	C	C	G			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr1:62941378C>G	ENST00000340370.5	-	45	5885	c.5868G>C	c.(5866-5868)gaG>gaC	p.E1956D	DOCK7_ENST00000489185.1_5'UTR|DOCK7_ENST00000251157.5_Splice_Site_p.E1976D	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1987	DHR-2.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ATGGACTTACCTCTTCTTTAT	0.378																																						ENST00000251157.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.e45+1		dedicator of cytokinesis 7							133.0	139.0	137.0					1																	62941378		2203	4300	6503	SO:0001630	splice_region_variant	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:62941378C>G		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.5868+1G>C	1.37:g.62941378C>G						DOCK7_ENST00000489185.1_5'UTR|DOCK7_ENST00000340370.5_Splice_Site_p.E1956_splice	p.E1976_splice	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN			45	5961	-			1987			DHR-2.		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Splice_Site	SNP	ENST00000340370.5	37	c.5928_splice	CCDS30734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.0|22.0	4.224296|4.224296	0.79576|0.79576	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000454575|ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441	.|T;T	.|0.19806	.|2.12;2.12	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.51075|0.51075	0.1653|0.1653	M|M	0.78916|0.78916	2.43|2.43	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.76494	.|0.998;0.984;0.998;0.999;0.999;0.967	.|D;P;D;D;D;P	.|0.87578	.|0.981;0.79;0.995;0.994;0.998;0.852	T|T	0.48055|0.48055	-0.9068|-0.9068	5|10	.|0.52906	.|T	.|0.07	.|.	19.8965|19.8965	0.96963|0.96963	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1987;1976;1956;1945;1947;1978	.|Q96N67;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	.|DOCK7_HUMAN;.;.;.;.;.	H|D	1150|1987;1976;1956;717	.|ENSP00000251157:E1976D;ENSP00000340742:E1956D	.|ENSP00000251157:E1976D	D|E	-|-	1|3	0|2	DOCK7|DOCK7	62713966|62713966	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.673000|0.673000	0.39480|0.39480	4.977000|4.977000	0.63792|0.63792	2.717000|2.717000	0.92951|0.92951	0.655000|0.655000	0.94253|0.94253	GAT|GAG		0.378	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407	Missense_Mutation	48	72	0	0	0	1	0	48	72				
PPP1R42	286187	broad.mit.edu	37	8	67922953	67922953	+	Silent	SNP	C	C	G			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr8:67922953C>G	ENST00000324682.5	-	5	693	c.549G>C	c.(547-549)gtG>gtC	p.V183V	PPP1R42_ENST00000522909.1_Silent_p.V183V|PPP1R42_ENST00000517834.1_5'Flank	NM_001013626.2	NP_001013648.1	Q7Z4L9	PPR42_HUMAN	protein phosphatase 1, regulatory subunit 42	183					regulation of phosphatase activity (GO:0010921)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|manchette (GO:0002177)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)	actin binding (GO:0003779)|dynein binding (GO:0045502)|tubulin binding (GO:0015631)										ACACTACCTTCACATGCAGAA	0.254																																						ENST00000522909.1																			0											c.(547-549)gtG>gtC		protein phosphatase 1, regulatory subunit 42							64.0	63.0	63.0					8																	67922953		2203	4296	6499	SO:0001819	synonymous_variant	286187							g.chr8:67922953C>G	BC055413	CCDS34902.1	8q13.1-q13.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000178125	ENSG00000178125		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	33732	protein-coding gene	gene with protein product	"""testis leucine-rich repeat"""		"""leucine rich repeat containing 67"""	LRRC67			Standard	NM_001013626		Approved	dtr, TLLR	uc003xxc.3	Q7Z4L9	OTTHUMG00000164745	ENST00000324682.5:c.549G>C	8.37:g.67922953C>G						PPP1R42_ENST00000324682.5_Silent_p.V183V	p.V183V			Q7Z4L9	LRC67_HUMAN			5	733	-			183						Silent	SNP	ENST00000324682.5	37	c.549G>C	CCDS34902.1																																																																																				0.254	PPP1R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380034.2	NM_001013626		11	69	0	0	0	1	0	11	69				
APBA2	321	broad.mit.edu	37	15	29393810	29393810	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr15:29393810G>T	ENST00000558402.1	+	11	1946	c.1347G>T	c.(1345-1347)atG>atT	p.M449I	APBA2_ENST00000561069.1_Missense_Mutation_p.M449I|APBA2_ENST00000558330.1_Missense_Mutation_p.M437I|APBA2_ENST00000558259.1_Missense_Mutation_p.M449I|APBA2_ENST00000411764.1_Missense_Mutation_p.M437I			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	449	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AGGAAACCATGATGGACCACG	0.577																																						ENST00000558402.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59						c.(1345-1347)atG>atT		amyloid beta (A4) precursor protein-binding, family A, member 2							96.0	67.0	77.0					15																	29393810		2203	4299	6502	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29393810G>T	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1347G>T	15.37:g.29393810G>T	ENSP00000453293:p.Met449Ile					APBA2_ENST00000558330.1_Missense_Mutation_p.M437I|APBA2_ENST00000558259.1_Missense_Mutation_p.M449I|APBA2_ENST00000411764.1_Missense_Mutation_p.M437I|APBA2_ENST00000561069.1_Missense_Mutation_p.M449I	p.M449I			Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	11	1946	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	449			PID.		E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.1347G>T	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767429	0.69878	.	.	ENSG00000034053	ENST00000411764;ENST00000219865;ENST00000382938	T	0.16597	2.33	4.27	4.27	0.50696	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.093790	0.64402	D	0.000002	T	0.22166	0.0534	L	0.55017	1.72	0.80722	D	1	B;B;B;B	0.34103	0.17;0.437;0.267;0.096	B;B;B;B	0.37943	0.194;0.241;0.194;0.261	T	0.05289	-1.0894	10	0.51188	T	0.08	.	16.2197	0.82251	0.0:0.0:1.0:0.0	.	437;141;437;449	Q5XKC0;Q6ZVB1;E9PGI4;Q99767	.;.;.;APBA2_HUMAN	I	437;449;141	ENSP00000409312:M437I	ENSP00000219865:M449I	M	+	3	0	APBA2	27181102	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.352000	0.97076	2.365000	0.80145	0.655000	0.94253	ATG		0.577	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		3	26	1	0	1	1	1	3	26				
SRPX	8406	broad.mit.edu	37	X	38016273	38016273	+	Missense_Mutation	SNP	A	A	T	rs375474100		TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chrX:38016273A>T	ENST00000378533.3	-	8	1071	c.965T>A	c.(964-966)gTc>gAc	p.V322D	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000544439.1_Missense_Mutation_p.V302D|SRPX_ENST00000343800.6_Missense_Mutation_p.V309D|SRPX_ENST00000538295.1_Missense_Mutation_p.V322D|SRPX_ENST00000479015.1_5'UTR|SRPX_ENST00000432886.2_Missense_Mutation_p.V263D	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	322					autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						ACCCACATTGACGTTCATGGC	0.478																																						ENST00000378533.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						c.(964-966)gTc>gAc		sushi-repeat containing protein, X-linked							109.0	91.0	97.0					X																	38016273		2202	4300	6502	SO:0001583	missense	8406				cell adhesion	cell surface|membrane		g.chrX:38016273A>T	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"""sushi-repeat-containing protein, X chromosome"", ""sushi-repeat-containing protein, X-linked"""			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.965T>A	X.37:g.38016273A>T	ENSP00000367794:p.Val322Asp					SRPX_ENST00000432886.2_Missense_Mutation_p.V263D|SRPX_ENST00000544439.1_Missense_Mutation_p.V302D|SRPX_ENST00000538295.1_Missense_Mutation_p.V322D|SRPX_ENST00000479015.1_5'UTR|SRPX_ENST00000343800.6_Missense_Mutation_p.V309D|TM4SF2_ENST00000465127.1_Intron	p.V322D	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN			8	1071	-			322					A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Missense_Mutation	SNP	ENST00000378533.3	37	c.965T>A	CCDS14245.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.655226	0.88056	.	.	ENSG00000101955	ENST00000544439;ENST00000432886;ENST00000538295;ENST00000378533;ENST00000343800	T;T;T;T;T	0.18174	2.25;2.46;2.3;2.24;2.23	6.08	6.08	0.98989	Complement control module (1);	0.198417	0.52532	D	0.000072	T	0.28267	0.0698	L	0.31926	0.97	0.80722	D	1	D;P;D;D	0.60575	0.984;0.93;0.988;0.979	P;P;P;P	0.58721	0.844;0.613;0.804;0.642	T	0.01472	-1.1346	10	0.72032	D	0.01	-16.4829	15.4993	0.75684	1.0:0.0:0.0:0.0	.	322;263;302;322	F5H4D7;B4DQH5;G3V1L0;P78539	.;.;.;SRPX_HUMAN	D	302;263;322;322;309	ENSP00000440758:V302D;ENSP00000411165:V263D;ENSP00000445034:V322D;ENSP00000367794:V322D;ENSP00000339211:V309D	ENSP00000339211:V309D	V	-	2	0	SRPX	37901217	1.000000	0.71417	0.984000	0.44739	0.939000	0.58152	8.962000	0.93254	2.044000	0.60594	0.486000	0.48141	GTC		0.478	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		7	30	0	0	0	1	0	7	30				
SSH3	54961	broad.mit.edu	37	11	67079329	67079329	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr11:67079329C>T	ENST00000308127.4	+	14	2129	c.1951C>T	c.(1951-1953)Cat>Tat	p.H651Y	SSH3_ENST00000308298.7_Missense_Mutation_p.H386Y|SSH3_ENST00000376757.5_3'UTR	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	651					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGCCAGCGTGCATGACAGTGG	0.637																																						ENST00000308127.4																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1951-1953)Cat>Tat		slingshot protein phosphatase 3							67.0	54.0	59.0					11																	67079329		2200	4295	6495	SO:0001583	missense	54961				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:67079329C>T	AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30581	protein-coding gene	gene with protein product		606780	"""slingshot homolog 3 (Drosophila)"""			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.1951C>T	11.37:g.67079329C>T	ENSP00000312081:p.His651Tyr					SSH3_ENST00000308298.7_Missense_Mutation_p.H386Y|SSH3_ENST00000376757.5_3'UTR	p.H651Y	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		14	2129	+			651					Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Missense_Mutation	SNP	ENST00000308127.4	37	c.1951C>T	CCDS8157.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.367969	0.24771	.	.	ENSG00000172830	ENST00000308127;ENST00000308298	T;T	0.30981	3.86;1.51	4.72	3.81	0.43845	.	1.194440	0.06298	N	0.700381	T	0.18923	0.0454	N	0.08118	0	0.80722	D	1	B;B	0.30686	0.29;0.011	B;B	0.21708	0.036;0.012	T	0.02244	-1.1189	10	0.72032	D	0.01	-6.3164	11.2717	0.49142	0.0:0.1876:0.8124:0.0	.	505;651	Q8TE77-3;Q8TE77	.;SSH3_HUMAN	Y	651;386	ENSP00000312081:H651Y;ENSP00000310055:H386Y	ENSP00000312081:H651Y	H	+	1	0	SSH3	66835905	1.000000	0.71417	0.967000	0.41034	0.197000	0.23852	2.847000	0.48270	1.136000	0.42199	-0.234000	0.12200	CAT		0.637	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1	NM_018276		37	47	0	0	0	1	0	37	47				
KIF24	347240	broad.mit.edu	37	9	34255095	34255095	+	Missense_Mutation	SNP	G	G	A	rs371161721		TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr9:34255095G>A	ENST00000402558.2	-	11	3965	c.3941C>T	c.(3940-3942)aCg>aTg	p.T1314M	KIF24_ENST00000345050.2_Missense_Mutation_p.T1180M|KIF24_ENST00000379174.3_Missense_Mutation_p.T1180M|KIF24_ENST00000379166.2_Missense_Mutation_p.T1314M			Q5T7B8	KIF24_HUMAN	kinesin family member 24	1314					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			GCTCATCAGCGTCTCCTCCTT	0.527																																						ENST00000379166.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(3940-3942)aCg>aTg		kinesin family member 24							64.0	50.0	55.0					9																	34255095		2203	4298	6501	SO:0001583	missense	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34255095G>A	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.3941C>T	9.37:g.34255095G>A	ENSP00000384433:p.Thr1314Met					KIF24_ENST00000345050.2_Missense_Mutation_p.T1180M|KIF24_ENST00000402558.2_Missense_Mutation_p.T1314M|KIF24_ENST00000379174.3_Missense_Mutation_p.T1180M	p.T1314M	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		12	4060	-			1314					Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	ENST00000402558.2	37	c.3941C>T	CCDS6551.2	.	.	.	.	.	.	.	.	.	.	G	15.02	2.710317	0.48517	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050	T;T;T;T	0.72394	-0.43;-0.65;-0.43;-0.65	5.55	2.62	0.31277	.	0.304002	0.24027	N	0.042226	T	0.61362	0.2341	M	0.62723	1.935	0.20074	N	0.999938	P	0.52316	0.952	B	0.42030	0.373	T	0.59984	-0.7351	10	0.66056	D	0.02	.	2.9281	0.05791	0.1685:0.3987:0.3118:0.121	.	1314	Q5T7B8	KIF24_HUMAN	M	1314;1180;1314;1180	ENSP00000384433:T1314M;ENSP00000368472:T1180M;ENSP00000368464:T1314M;ENSP00000340179:T1180M	ENSP00000340179:T1180M	T	-	2	0	KIF24	34245095	0.505000	0.26131	0.971000	0.41717	0.615000	0.37417	0.794000	0.26958	0.714000	0.32081	0.655000	0.94253	ACG		0.527	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			3	15	0	0	0	1	0	3	15				
ACTR5	79913	broad.mit.edu	37	20	37400382	37400382	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr20:37400382G>A	ENST00000243903.4	+	9	1784	c.1747G>A	c.(1747-1749)Gcc>Acc	p.A583T		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	583					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				GCCGAAGCAGGCCTCCCGCTC	0.587																																						ENST00000243903.4																			0				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12						c.(1747-1749)Gcc>Acc		ARP5 actin-related protein 5 homolog (yeast)							35.0	33.0	34.0					20																	37400382		2203	4300	6503	SO:0001583	missense	79913				DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding	g.chr20:37400382G>A	AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"""INO80 complex subunits"""	14671	protein-coding gene	gene with protein product	"""INO80 complex subunit M"""		"""ARP5 (actin-related protein 5, yeast) homolog"""			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.1747G>A	20.37:g.37400382G>A	ENSP00000243903:p.Ala583Thr						p.A583T	NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN			9	1784	+		Myeloproliferative disorder(115;0.00878)	583					Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Missense_Mutation	SNP	ENST00000243903.4	37	c.1747G>A	CCDS13308.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101004	0.37048	.	.	ENSG00000101442	ENST00000243903	D	0.96168	-3.93	5.95	4.82	0.62117	.	0.169822	0.51477	D	0.000097	D	0.90116	0.6912	N	0.20986	0.625	0.41963	D	0.990711	B	0.17852	0.024	B	0.12156	0.007	D	0.85306	0.1076	10	0.18710	T	0.47	-19.4077	13.7572	0.62943	0.1248:0.0:0.8752:0.0	.	583	Q9H9F9	ARP5_HUMAN	T	583	ENSP00000243903:A583T	ENSP00000243903:A583T	A	+	1	0	ACTR5	36833796	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	2.547000	0.45786	2.833000	0.97629	0.655000	0.94253	GCC		0.587	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079205.2	NM_024855		19	13	0	0	0	1	0	19	13				
GTF2B	2959	broad.mit.edu	37	1	89319013	89319013	+	Silent	SNP	A	A	T			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr1:89319013A>T	ENST00000370500.5	-	7	952	c.834T>A	c.(832-834)gcT>gcA	p.A278A		NM_001514.5	NP_001505.1	Q00403	TF2B_HUMAN	general transcription factor IIB	278					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)	core promoter binding (GO:0001047)|thyroid hormone receptor binding (GO:0046966)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		CAGCAACACCAGCAATATCTC	0.398																																						ENST00000370500.5																			0				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(832-834)gcT>gcA		general transcription factor IIB							136.0	136.0	136.0					1																	89319013		2203	4300	6503	SO:0001819	synonymous_variant	2959				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding	g.chr1:89319013A>T	M76766	CCDS715.1	1p22-p21	2010-03-23			ENSG00000137947	ENSG00000137947		"""General transcription factors"""	4648	protein-coding gene	gene with protein product		189963				1876184, 8162052	Standard	NM_001514		Approved	TFIIB	uc001dmo.4	Q00403	OTTHUMG00000010611	ENST00000370500.5:c.834T>A	1.37:g.89319013A>T							p.A278A	NM_001514.5	NP_001505.1	Q00403	TF2B_HUMAN		all cancers(265;0.0131)|Epithelial(280;0.0255)	7	952	-		Lung NSC(277;0.123)	278					A8K1A7|Q5JS30	Silent	SNP	ENST00000370500.5	37	c.834T>A	CCDS715.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.182196	0.38511	.	.	ENSG00000137947	ENST00000448623	T	0.41758	0.99	5.97	2.31	0.28768	.	.	.	.	.	T	0.34308	0.0893	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31110	-0.9955	6	0.72032	D	0.01	-12.3919	5.9028	0.18976	0.6048:0.2599:0.1353:0.0	.	.	.	.	R	222	ENSP00000415741:W222R	ENSP00000415741:W222R	W	-	1	0	GTF2B	89091601	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.291000	0.33330	1.094000	0.41399	0.533000	0.62120	TGG		0.398	GTF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029279.1	NM_001514		49	59	0	0	0	1	0	49	59				
OR2L2	26246	broad.mit.edu	37	1	248201938	248201938	+	Silent	SNP	G	G	T			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr1:248201938G>T	ENST00000366479.2	+	1	465	c.369G>T	c.(367-369)gtG>gtT	p.V123V	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATCGTTATGTGGCCATTTGCT	0.438																																						ENST00000366479.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42						c.(367-369)gtG>gtT		olfactory receptor, family 2, subfamily L, member 2							163.0	144.0	150.0					1																	248201938		2203	4300	6503	SO:0001819	synonymous_variant	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248201938G>T	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.369G>T	1.37:g.248201938G>T						OR2L13_ENST00000366478.2_Intron	p.V123V	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	465	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		123					Q2M3T5	Silent	SNP	ENST00000366479.2	37	c.369G>T	CCDS31103.1																																																																																				0.438	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		57	62	1	0	2.3441e-25	1	3.1677e-25	57	62				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	54	0	0	0	1	0	3	54				
CERCAM	51148	broad.mit.edu	37	9	131193524	131193524	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr9:131193524G>A	ENST00000372838.4	+	9	1543	c.1145G>A	c.(1144-1146)cGc>cAc	p.R382H	RP11-339B21.10_ENST00000610052.1_RNA|CERCAM_ENST00000372842.1_Missense_Mutation_p.R304H	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	382					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						TACTCGGGCCGCACTCTGACC	0.627																																						ENST00000372842.1																			0				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						c.(910-912)cGc>cAc		cerebral endothelial cell adhesion molecule							85.0	85.0	85.0					9																	131193524		2203	4300	6503	SO:0001583	missense	51148				cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane		g.chr9:131193524G>A	AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"""glycosyltransferase 25 domain containing 3"""		"""cerebral cell adhesion molecule"""	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.1145G>A	9.37:g.131193524G>A	ENSP00000361929:p.Arg382His					CERCAM_ENST00000372838.4_Missense_Mutation_p.R382H	p.R304H			Q5T4B2	GT253_HUMAN			10	4055	+			382					A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Missense_Mutation	SNP	ENST00000372838.4	37	c.911G>A	CCDS6901.2	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789219	0.70337	.	.	ENSG00000167123	ENST00000372842;ENST00000372838;ENST00000413863	T;T	0.80653	-1.37;-1.4	5.02	4.1	0.47936	.	0.055960	0.64402	N	0.000001	D	0.86293	0.5898	M	0.74546	2.27	0.80722	D	1	D	0.59767	0.986	P	0.57679	0.825	D	0.87600	0.2496	10	0.72032	D	0.01	-20.9121	12.8845	0.58036	0.0818:0.0:0.9182:0.0	.	382	Q5T4B2	GT253_HUMAN	H	304;382;335	ENSP00000361933:R304H;ENSP00000361929:R382H	ENSP00000361929:R382H	R	+	2	0	CERCAM	130233345	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	7.668000	0.83897	1.197000	0.43143	0.491000	0.48974	CGC		0.627	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054435.2	NM_016174		4	150	0	0	0	1	0	4	150				
TPTE2P6	374491	broad.mit.edu	37	13	25168489	25168489	+	RNA	SNP	G	G	A	rs200109937		TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr13:25168489G>A	ENST00000453498.1	+	0	1161				TPTE2P6_ENST00000440905.1_RNA																							TGAAAGTGCAGTTTTTCTCTT	0.363																																						ENST00000453498.1																			0																																																			0							g.chr13:25168489G>A																													13.37:g.25168489G>A														0	1161	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.363	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			3	52	0	0	0	1	0	3	52				
TRBV2	28620	broad.mit.edu	37	7	142000833	142000833	+	RNA	SNP	C	C	A			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr7:142000833C>A	ENST00000455382.2	+	0	87									T cell receptor beta variable 2																		GGATACCTGGCTCGTATGCTG	0.478																																						ENST00000455382.2																			0																				135.0	127.0	130.0					7																	142000833		1952	4149	6101			0							g.chr7:142000833C>A	L36092		7q34	2012-02-07			ENSG00000226660	ENSG00000226660		"""T cell receptors / TRB locus"""	12195	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TCRBV22S1A2N1T, TCRBV2S1			OTTHUMG00000158532		7.37:g.142000833C>A														0	87	+									RNA	SNP	ENST00000455382.2	37																																																																																						0.478	TRBV2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351238.2	NG_001333		33	85	1	0	3.4345e-17	1	4.29312e-17	33	85				
PYROXD2	84795	broad.mit.edu	37	10	100150769	100150769	+	Missense_Mutation	SNP	T	T	C	rs372754247		TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr10:100150769T>C	ENST00000370575.4	-	11	1181	c.1133A>G	c.(1132-1134)aAt>aGt	p.N378S	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	378							oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						CCTCTTACCATTGATCTTGGT	0.547																																						ENST00000370575.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(1132-1134)aAt>aGt		pyridine nucleotide-disulphide oxidoreductase domain 2		T	SER/ASN	1,4405	2.1+/-5.4	0,1,2202	147.0	139.0	142.0		1133	5.1	1.0	10		142	0,8600		0,0,4300	no	missense	PYROXD2	NM_032709.2	46	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging	378/582	100150769	1,13005	2203	4300	6503	SO:0001583	missense	84795						oxidoreductase activity	g.chr10:100150769T>C	AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 33"""	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.1133A>G	10.37:g.100150769T>C	ENSP00000359607:p.Asn378Ser					PYROXD2_ENST00000483923.1_5'UTR	p.N378S	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN			11	1181	-			378					D3DR61|Q5TAA9|Q9BRQ1	Missense_Mutation	SNP	ENST00000370575.4	37	c.1133A>G	CCDS7474.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.168395	0.78339	2.27E-4	0.0	ENSG00000119943	ENST00000370575	T	0.23950	1.88	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.47432	0.1445	H	0.94183	3.505	0.80722	D	1	P	0.42375	0.778	P	0.44732	0.459	T	0.61686	-0.7012	10	0.72032	D	0.01	-26.6683	12.4767	0.55819	0.0:0.0:0.0:1.0	.	378	Q8N2H3	PYRD2_HUMAN	S	378	ENSP00000359607:N378S	ENSP00000359607:N378S	N	-	2	0	PYROXD2	100140759	1.000000	0.71417	0.986000	0.45419	0.889000	0.51656	6.520000	0.73773	1.942000	0.56320	0.460000	0.39030	AAT		0.547	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049782.2	NM_032709		10	166	0	0	0	1	0	10	166				
B9D2	80776	broad.mit.edu	37	19	41858655	41858655	+	IGR	SNP	G	G	T			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr19:41858655G>T	ENST00000243578.3	-	0	1027				CTC-435M10.3_ENST00000604424.1_Intron|TMEM91_ENST00000539627.1_Intron|TMEM91_ENST00000604123.1_5'Flank|TGFB1_ENST00000221930.5_Missense_Mutation_p.P99T	NM_030578.3	NP_085055.2	Q9BPU9	B9D2_HUMAN	B9 protein domain 2						cilium assembly (GO:0042384)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)	gamma-tubulin binding (GO:0043015)			large_intestine(1)|ovary(1)	2						TCGGCCTCAGGCTCGGGCTCC	0.731											OREG0025483	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000221930.5																			0				endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8						c.(295-297)Cct>Act		transforming growth factor, beta 1	Hyaluronidase(DB00070)						24.0	25.0	25.0					19																	41858655		2202	4298	6500	SO:0001628	intergenic_variant	7040				active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding	g.chr19:41858655G>T	BC004157	CCDS12579.1	19q13.2	2014-01-28				ENSG00000123810			28636	protein-coding gene	gene with protein product		611951				21763481	Standard	NM_030578		Approved	MGC4093, MKS10	uc002oqj.2	Q9BPU9			19.37:g.41858655G>T			OREG0025483	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	904	TMEM91_ENST00000539627.1_Intron	p.P99T	NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN			1	1161	-			99						Missense_Mutation	SNP	ENST00000243578.3	37	c.295C>A	CCDS12579.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.859871	0.00552	.	.	ENSG00000105329	ENST00000221930	T	0.64618	-0.11	4.06	1.75	0.24633	Transforming growth factor-beta, N-terminal (1);	0.267349	0.37012	N	0.002282	T	0.40498	0.1119	L	0.36672	1.1	0.38775	D	0.954646	B	0.15473	0.013	B	0.19391	0.025	T	0.20009	-1.0288	10	0.05833	T	0.94	-18.8432	4.1134	0.10070	0.1016:0.1631:0.5871:0.1481	.	99	P01137	TGFB1_HUMAN	T	99	ENSP00000221930:P99T	ENSP00000221930:P99T	P	-	1	0	TGFB1	46550495	0.007000	0.16637	0.326000	0.25389	0.001000	0.01503	1.352000	0.34033	0.912000	0.36772	-0.251000	0.11542	CCT		0.731	B9D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463489.1	NM_030578		13	24	1	0	1.99824e-07	1	2.32353e-07	13	24				
CSNK2A2	1459	broad.mit.edu	37	16	58198010	58198010	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr16:58198010C>A	ENST00000262506.3	-	11	1201	c.1018G>T	c.(1018-1020)Gct>Tct	p.A340S	CSNK2A2_ENST00000566813.1_5'UTR	NM_001896.2	NP_001887.1	P19784	CSK22_HUMAN	casein kinase 2, alpha prime polypeptide	340					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)	1						GAAAGCACAGCATTGTCTGCA	0.527																																					Melanoma(54;119 1219 18349 35700 39738)	ENST00000262506.3																			0				central_nervous_system(1)	1						c.(1018-1020)Gct>Tct		casein kinase 2, alpha prime polypeptide							111.0	93.0	99.0					16																	58198010		2198	4300	6498	SO:0001583	missense	1459				axon guidance|Wnt receptor signaling pathway	cytosol|nucleus	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	g.chr16:58198010C>A	M55268	CCDS10794.1	16q21	2013-01-17			ENSG00000070770	ENSG00000070770			2459	protein-coding gene	gene with protein product		115442				2174700, 1766873	Standard	NM_001896		Approved	CSNK2A1	uc002enc.3	P19784	OTTHUMG00000133488	ENST00000262506.3:c.1018G>T	16.37:g.58198010C>A	ENSP00000262506:p.Ala340Ser					CSNK2A2_ENST00000566813.1_5'UTR	p.A340S	NM_001896.2	NP_001887.1	P19784	CSK22_HUMAN			11	1201	-			340						Missense_Mutation	SNP	ENST00000262506.3	37	c.1018G>T	CCDS10794.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.542429	0.27563	.	.	ENSG00000070770	ENST00000262506	T	0.65732	-0.17	5.61	3.53	0.40419	.	0.283632	0.40144	N	0.001176	T	0.38532	0.1044	N	0.16368	0.405	0.26355	N	0.97715	B	0.06786	0.001	B	0.06405	0.002	T	0.15896	-1.0421	10	0.09338	T	0.73	-4.2847	8.302	0.32019	0.1536:0.7634:0.0:0.083	.	340	P19784	CSK22_HUMAN	S	340	ENSP00000262506:A340S	ENSP00000262506:A340S	A	-	1	0	CSNK2A2	56755511	0.932000	0.31603	0.932000	0.37286	0.999000	0.98932	1.605000	0.36815	1.471000	0.48121	0.655000	0.94253	GCT		0.527	CSNK2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257386.2	NM_001896		3	40	1	0	1	1	1	3	40				
LCMT2	9836	broad.mit.edu	37	15	43620821	43620821	+	Silent	SNP	A	A	G	rs538083093		TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr15:43620821A>G	ENST00000305641.5	-	1	1982	c.1867T>C	c.(1867-1869)Ttg>Ctg	p.L623L	ADAL_ENST00000389651.4_5'Flank|ADAL_ENST00000428046.3_5'Flank|ADAL_ENST00000422466.2_5'Flank|LCMT2_ENST00000567039.1_3'UTR|LCMT2_ENST00000544735.1_Silent_p.L202L	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	623					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	TCAGAGCTCAATCCTGTAGTC	0.443																																						ENST00000305641.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20						c.(1867-1869)Ttg>Ctg		leucine carboxyl methyltransferase 2	L-Leucine(DB00149)						112.0	106.0	108.0					15																	43620821		2201	4299	6500	SO:0001819	synonymous_variant	9836				tRNA processing		methyltransferase activity|protein binding	g.chr15:43620821A>G	AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 4"""	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.1867T>C	15.37:g.43620821A>G						LCMT2_ENST00000567039.1_3'UTR|LCMT2_ENST00000544735.1_Silent_p.L202L	p.L623L	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN		GBM - Glioblastoma multiforme(94;8.1e-07)	1	1982	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	623					Q4JFT6|Q96B55|Q9NR10	Silent	SNP	ENST00000305641.5	37	c.1867T>C	CCDS10094.1																																																																																				0.443	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253205.1	NM_014793		42	34	0	0	0	1	0	42	34				
EXD3	54932	broad.mit.edu	37	9	140267454	140267454	+	Missense_Mutation	SNP	G	G	A	rs368323331		TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr9:140267454G>A	ENST00000340951.4	-	5	560	c.365C>T	c.(364-366)gCg>gTg	p.A122V	EXD3_ENST00000475006.1_5'UTR|EXD3_ENST00000342129.4_5'UTR|EXD3_ENST00000479452.1_Missense_Mutation_p.A122V	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0	Pro-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						CAGTGGTGCCGCAAGGCTGGG	0.637																																						ENST00000340951.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						c.(364-366)gCg>gTg		exonuclease 3'-5' domain containing 3		A	VAL/ALA	2,4172		0,2,2085	42.0	52.0	48.0		365	-6.4	0.0	9		48	0,8430		0,0,4215	no	missense	EXD3	NM_017820.3	64	0,2,6300	AA,AG,GG		0.0,0.0479,0.0159	benign	122/877	140267454	2,12602	2087	4215	6302	SO:0001583	missense	54932				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr9:140267454G>A		CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.365C>T	9.37:g.140267454G>A	ENSP00000340474:p.Ala122Val					EXD3_ENST00000342129.4_5'UTR|EXD3_ENST00000479452.1_Missense_Mutation_p.A122V|EXD3_ENST00000475006.1_5'UTR	p.A122V	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN			5	560	-			122					Q6P1M1|Q8IXT8	Missense_Mutation	SNP	ENST00000340951.4	37	c.365C>T	CCDS48066.1	.	.	.	.	.	.	.	.	.	.	A	0.968	-0.701097	0.03255	4.79E-4	0.0	ENSG00000187609	ENST00000340951;ENST00000479452	T;T	0.48201	0.82;1.67	4.29	-6.41	0.01938	.	0.787215	0.11689	N	0.539057	T	0.18964	0.0455	N	0.02736	-0.51	0.09310	N	0.999997	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.28106	-1.0054	10	0.17832	T	0.49	.	12.9098	0.58173	0.4356:0.0:0.5644:0.0	.	122;122	Q8N9H8-4;Q8N9H8	.;MUT7_HUMAN	V	122	ENSP00000340474:A122V;ENSP00000431859:A122V	ENSP00000340474:A122V	A	-	2	0	EXD3	139387275	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.264000	0.18497	-2.313000	0.00648	-3.502000	0.00033	GCG		0.637	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	NM_017820		5	129	0	0	0	1	0	5	129				
TAS2R38	5726	broad.mit.edu	37	7	141672537	141672537	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr7:141672537C>G	ENST00000547270.1	-	1	1036	c.953G>C	c.(952-954)aGc>aCc	p.S318T		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	318					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					TACCTTCAGGCTGCTCTGAGC	0.507																																						ENST00000547270.1																			0				NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21						c.(952-954)aGc>aCc		taste receptor, type 2, member 38							68.0	60.0	63.0					7																	141672537		2203	4300	6503	SO:0001583	missense	5726				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:141672537C>G	AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	9584	protein-coding gene	gene with protein product		607751	"""phenylthiocarbamide tasting"""	PTC		12624758, 12584440	Standard	NM_176817		Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.953G>C	7.37:g.141672537C>G	ENSP00000448219:p.Ser318Thr						p.S318T	NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN			1	1036	-	Melanoma(164;0.0171)		318					A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Missense_Mutation	SNP	ENST00000547270.1	37	c.953G>C	CCDS34765.1	.	.	.	.	.	.	.	.	.	.	C	7.885	0.731081	0.15507	.	.	ENSG00000257138	ENST00000547270	T	0.38077	1.16	5.31	-0.251	0.13003	.	1.137340	0.06500	N	0.736125	T	0.30759	0.0775	M	0.68593	2.085	0.09310	N	1	B	0.29432	0.244	B	0.19391	0.025	T	0.22556	-1.0213	10	0.22706	T	0.39	.	4.8871	0.13708	0.4435:0.3873:0.0:0.1692	.	318	P59533	T2R38_HUMAN	T	318	ENSP00000448219:S318T	ENSP00000331291:S318T	S	-	2	0	TAS2R38	141319006	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	-0.376000	0.07465	0.020000	0.15106	-0.274000	0.10170	AGC		0.507	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	NM_176817		8	86	0	0	0	1	0	8	86				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	51	0	0	0	1	0	3	51				
APOC4	346	broad.mit.edu	37	19	45445567	45445567	+	Silent	SNP	G	G	T			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr19:45445567G>T	ENST00000592954.1	+	1	73	c.33G>T	c.(31-33)ctG>ctT	p.L11L	APOC4_ENST00000591600.1_Silent_p.L11L|APOC4-APOC2_ENST00000589057.1_Silent_p.L11L|APOC4_ENST00000419266.2_Silent_p.L11L	NM_001646.2	NP_001637.1	P55056	APOC4_HUMAN	apolipoprotein C-IV	11					lipid metabolic process (GO:0006629)|positive regulation of sequestering of triglyceride (GO:0010890)|triglyceride homeostasis (GO:0070328)	high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	lipid transporter activity (GO:0005319)			breast(1)|endometrium(1)|lung(2)	4	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00334)|Epithelial(262;0.178)		TCCAGGCCCTGCCTGCCCTGT	0.657																																						ENST00000419266.2																			0											c.(31-33)ctG>ctT									65.0	53.0	57.0					19																	45445567		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr19:45445567G>T	U32576	CCDS12649.1	19q13.2	2013-09-30			ENSG00000267467	ENSG00000267467		"""Apolipoproteins"""	611	protein-coding gene	gene with protein product		600745				8530039	Standard	NM_001646		Approved			P55056	OTTHUMG00000180845	ENST00000592954.1:c.33G>T	19.37:g.45445567G>T						APOC4_ENST00000592954.1_Silent_p.L11L|APOC4-APOC2_ENST00000436871.1_Silent_p.L11L|APOC4_ENST00000591600.1_Silent_p.L11L|APOC4-APOC2_ENST00000589057.1_Silent_p.L11L	p.L11L							1	73	+								B3KWY6|Q53YY8	Silent	SNP	ENST00000592954.1	37	c.33G>T	CCDS12649.1																																																																																				0.657	APOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453255.1	NM_001646		3	30	1	0	0.150653	1	0.163754	3	30				
APOB	338	broad.mit.edu	37	2	21231311	21231311	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr2:21231311G>T	ENST00000233242.1	-	26	8556	c.8429C>A	c.(8428-8430)gCa>gAa	p.A2810E		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2810					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGTGCATTTGCTTGAAAATC	0.453																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(8428-8430)gCa>gAa		apolipoprotein B	Atorvastatin(DB01076)						103.0	105.0	104.0					2																	21231311		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21231311G>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8429C>A	2.37:g.21231311G>T	ENSP00000233242:p.Ala2810Glu						p.A2810E	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	8556	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2810					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.8429C>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040516	0.75732	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00832	5.64	5.36	4.47	0.54385	.	0.000000	0.47093	D	0.000247	T	0.04952	0.0133	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	D	0.64595	0.927	T	0.19614	-1.0300	10	0.87932	D	0	.	15.7387	0.77866	0.0:0.1372:0.8628:0.0	.	2810	P04114	APOB_HUMAN	E	2810	ENSP00000233242:A2810E	ENSP00000233242:A2810E	A	-	2	0	APOB	21084816	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.639000	0.67868	1.239000	0.43787	0.555000	0.69702	GCA		0.453	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			42	115	1	0	2.47872e-24	1	3.26148e-24	42	115				
KRIT1	889	broad.mit.edu	37	7	91870306	91870306	+	Splice_Site	SNP	C	C	T			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr7:91870306C>T	ENST00000340022.2	-	5	1281		c.e5+1		KRIT1_ENST00000394505.2_Splice_Site|KRIT1_ENST00000394507.1_Splice_Site|KRIT1_ENST00000394503.2_Splice_Site|KRIT1_ENST00000412043.2_Splice_Site	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing						angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAGTTTCCTACCTCTGATACC	0.318																																						ENST00000394507.1																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22						c.e6+1		KRIT1, ankyrin repeat containing							162.0	148.0	153.0					7																	91870306		2203	4300	6503	SO:0001630	splice_region_variant	889				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity	g.chr7:91870306C>T	AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.262+1G>A	7.37:g.91870306C>T						KRIT1_ENST00000394505.2_Splice_Site|KRIT1_ENST00000394503.2_Splice_Site|KRIT1_ENST00000340022.2_Splice_Site|KRIT1_ENST00000412043.2_Splice_Site		NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		6	1046	-	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)							A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Splice_Site	SNP	ENST00000340022.2	37		CCDS5624.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252336	0.80135	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503;ENST00000415227;ENST00000458177;ENST00000433016;ENST00000454017;ENST00000440209;ENST00000430102	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0826	0.97783	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KRIT1	91708242	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.554000	0.73923	2.746000	0.94184	0.655000	0.94253	.		0.318	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1		Intron	28	67	0	0	0	1	0	28	67				
ACSM2B	348158	broad.mit.edu	37	16	20570613	20570613	+	Missense_Mutation	SNP	T	T	C	rs374648082		TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr16:20570613T>C	ENST00000329697.6	-	3	502	c.334A>G	c.(334-336)Atg>Gtg	p.M112V	ACSM2B_ENST00000567001.1_Missense_Mutation_p.M112V|ACSM2B_ENST00000565232.1_Missense_Mutation_p.M112V|ACSM2B_ENST00000565322.1_Missense_Mutation_p.M33V|ACSM2B_ENST00000414188.2_Missense_Mutation_p.M112V	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	112					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CGGGGCAGCATCACTGCCACA	0.552													t|||	1	0.000199681	0.0008	0.0	5008	,	,		16639	0.0		0.0	False		,,,				2504	0.0					ENST00000329697.6																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(334-336)Atg>Gtg		acyl-CoA synthetase medium-chain family member 2B							80.0	64.0	69.0					16																	20570613		2201	4300	6501	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20570613T>C	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.334A>G	16.37:g.20570613T>C	ENSP00000327453:p.Met112Val					ACSM2B_ENST00000565322.1_Missense_Mutation_p.M33V|ACSM2B_ENST00000565232.1_Missense_Mutation_p.M112V|ACSM2B_ENST00000414188.2_Missense_Mutation_p.M112V|ACSM2B_ENST00000567001.1_Missense_Mutation_p.M112V	p.M112V	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN			3	502	-			112					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.334A>G	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	t	0.019	-1.457556	0.01071	.	.	ENSG00000066813	ENST00000329697;ENST00000414188	T;T	0.40225	1.04;1.04	3.51	1.34	0.21922	AMP-dependent synthetase/ligase (1);	0.418948	0.17928	N	0.157273	T	0.15565	0.0375	N	0.04373	-0.215	0.20975	N	0.999816	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.20405	-1.0276	10	0.14656	T	0.56	-12.621	4.4767	0.11746	0.0:0.499:0.0:0.501	.	112;112	A8K051;Q68CK6	.;ACS2B_HUMAN	V	112	ENSP00000327453:M112V;ENSP00000390378:M112V	ENSP00000327453:M112V	M	-	1	0	ACSM2B	20478114	0.087000	0.21565	0.873000	0.34254	0.106000	0.19336	0.278000	0.18753	0.682000	0.31407	-0.190000	0.12839	ATG		0.552	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		3	19	0	0	0	1	0	3	19				
FETUB	26998	broad.mit.edu	37	3	186362544	186362544	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr3:186362544delA	ENST00000265029.3	+	4	530	c.429delA	c.(427-429)tcafs	p.S143fs	FETUB_ENST00000382136.3_Frame_Shift_Del_p.S106fs|FETUB_ENST00000539949.1_5'UTR|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000382134.3_Frame_Shift_Del_p.S78fs|FETUB_ENST00000450521.1_Frame_Shift_Del_p.S143fs|RP11-134F2.2_ENST00000455926.1_RNA|RP11-134F2.2_ENST00000428501.1_RNA	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	143					binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CAACAGTTTCAAAAAAAAAGA	0.418																																						ENST00000265029.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20						c.(427-429)tcfs		fetuin B							91.0	87.0	89.0					3																	186362544		2203	4300	6503	SO:0001589	frameshift_variant	26998					extracellular space	cysteine-type endopeptidase inhibitor activity	g.chr3:186362544delA	AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.429delA	3.37:g.186362544delA	ENSP00000265029:p.Ser143fs					FETUB_ENST00000488561.1_3'UTR|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000539949.1_5'UTR|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000450521.1_Frame_Shift_Del_p.S143fs|FETUB_ENST00000382136.3_Frame_Shift_Del_p.S106fs|FETUB_ENST00000382134.3_Frame_Shift_Del_p.S78fs	p.S143fs	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)	4	530	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		143					B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Frame_Shift_Del	DEL	ENST00000265029.3	37	c.429delA	CCDS3279.1																																																																																				0.418	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	NM_014375		11	94						11	94	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149527482	149527483	+	RNA	INS	-	-	C			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr7:149527482_149527483insC	ENST00000378016.2	+	0	15142							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			tcctcctctgtccccccccaca	0.634																																						ENST00000378016.2																			0													SCO-spondin																																						23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149527482_149527483insC	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149527490_149527490dupC										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	15142	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	INS	ENST00000378016.2	37																																																																																						0.634	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				2	4						2	4	---	---	---	---
CAMSAP1	157922	broad.mit.edu	37	9	138715799	138715800	+	Frame_Shift_Ins	INS	-	-	T	rs148250832|rs201838505	byFrequency	TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr9:138715799_138715800insT	ENST00000389532.4	-	10	1460_1461	c.1396_1397insA	c.(1396-1398)accfs	p.T466fs	CAMSAP1_ENST00000409386.3_Frame_Shift_Ins_p.T477fs|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Frame_Shift_Ins_p.T188fs	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	466					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GACTCACCTGGTTTTTTTTTCT	0.46																																						ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(1396-1398)cagfs		calmodulin regulated spectrin-associated protein 1																																				SO:0001589	frameshift_variant	157922					cytoplasm|microtubule		g.chr9:138715799_138715800insT	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.1397dupA	9.37:g.138715808_138715808dupT	ENSP00000374183:p.Thr466fs					CAMSAP1_ENST00000409386.3_Frame_Shift_Ins_p.Q477fs|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Frame_Shift_Ins_p.Q188fs	p.Q466fs	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	10	1460_1461	-			466					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Frame_Shift_Ins	INS	ENST00000389532.4	37	c.1396_1397insA	CCDS35176.2																																																																																				0.460	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		8	19						8	19	---	---	---	---
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs397840789|rs201322413		TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr14:71275774_71275776delCCT	ENST00000554752.2	-	1	112_114	c.113_115delAGG	c.(112-117)gaggcg>gcg	p.E38del	RP6-65G23.3_ENST00000557691.1_lincRNA|MAP3K9_ENST00000555993.2_In_Frame_Del_p.E38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.E38del	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	38	Ala-rich.|Poly-Glu.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.E38delE(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			1	Deletion - In frame(1)	p.E38delE(1)	ovary(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(112-117)gcg>g		mitogen-activated protein kinase kinase kinase 9																																				SO:0001651	inframe_deletion	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71275774_71275776delCCT	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.113_115delAGG	14.37:g.71275783_71275785delCCT	ENSP00000451612:p.Glu38del					MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del|MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del	p.EA38del			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	1	112_114	-			38			Ala-rich.|Poly-Glu.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	In_Frame_Del	DEL	ENST00000554752.2	37	c.113_115delAGG																																																																																					0.773	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			4	6						4	6	---	---	---	---
ZNF439	90594	broad.mit.edu	37	19	11978582	11978582	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr19:11978582delA	ENST00000304030.2	+	3	898	c.698delA	c.(697-699)gaafs	p.E233fs	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Frame_Shift_Del_p.E97fs	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	233					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						CTTATCCATGAAAGAACTCAC	0.373																																						ENST00000304030.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						c.(697-699)gafs		zinc finger protein 439							98.0	97.0	97.0					19																	11978582		2203	4300	6503	SO:0001589	frameshift_variant	90594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11978582delA	AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"""Zinc fingers, C2H2-type"", ""-"""	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.698delA	19.37:g.11978582delA	ENSP00000305077:p.Glu233fs					ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Frame_Shift_Del_p.E97fs	p.E233fs	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN			3	898	+			233					Q8IYZ7|Q96SU1	Frame_Shift_Del	DEL	ENST00000304030.2	37	c.698delA	CCDS12268.1																																																																																				0.373	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1			46	53						46	53	---	---	---	---
ZNF226	7769	broad.mit.edu	37	19	44681615	44681616	+	Frame_Shift_Del	DEL	AA	AA	-	rs368880544		TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr19:44681615_44681616delAA	ENST00000590089.1	+	7	2567_2568	c.2200_2201delAA	c.(2200-2202)aaafs	p.K734fs	ZNF226_ENST00000337433.5_Frame_Shift_Del_p.K734fs|ZNF226_ENST00000454662.2_Frame_Shift_Del_p.K734fs|ZNF226_ENST00000588883.1_3'UTR			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	734					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)						Prostate(69;0.0352)|all_neural(266;0.202)				TGTGTGTGGTAAAGTCTTCAGT	0.45																																					Pancreas(115;581 1665 13228 19278 50070)	ENST00000590089.1																			0											c.(2200-2202)afs		zinc finger protein 226																																				SO:0001589	frameshift_variant	7769				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44681615_44681616delAA	AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"""Zinc fingers, C2H2-type"", ""-"""	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.2200_2201delAA	19.37:g.44681615_44681616delAA	ENSP00000465121:p.Lys734fs					ZNF226_ENST00000337433.5_Frame_Shift_Del_p.K734fs|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Frame_Shift_Del_p.K734fs	p.K734fs			Q9NYT6	ZN226_HUMAN			7	2567_2568	+		Prostate(69;0.0352)|all_neural(266;0.202)	734					Q8WWE6|Q96TE6|Q9NS44	Frame_Shift_Del	DEL	ENST00000590089.1	37	c.2200_2201delAA	CCDS46102.1																																																																																				0.450	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1			38	99						38	99	---	---	---	---
FAM120C	54954	broad.mit.edu	37	X	54209302	54209303	+	In_Frame_Ins	INS	-	-	GGCGGC			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chrX:54209302_54209303insGGCGGC	ENST00000375180.2	-	1	385_386	c.329_330insGCCGCC	c.(328-330)ccc>ccGCCGCCc	p.110_110P>PPP	FAM120C_ENST00000328235.4_In_Frame_Ins_p.110_110P>PPP|FAM120C_ENST00000497680.1_5'Flank|FAM120C_ENST00000477084.1_In_Frame_Ins_p.110_110P>PPP	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	110							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCAGCTGAGGGGGCGGCGGCGG	0.748														77	0.0203974	0.0045	0.0159	3775	,	,		9228	0.0		0.0467	False		,,,				2504	0.0133					ENST00000375180.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(328-330)ccc>cGCCGCCcc		family with sequence similarity 120C																																				SO:0001652	inframe_insertion	54954							g.chrX:54209302_54209303insGGCGGC	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.324_329dupGCCGCC	X.37:g.54209303_54209308dupGGCGGC	ENSP00000364324:p.ProPro110dup					FAM120C_ENST00000328235.4_In_Frame_Ins_p.109_110insRR|FAM120C_ENST00000477084.1_In_Frame_Ins_p.109_110insRR	p.109_110insRR	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN			1	385_386	-			109					B2RMT7	In_Frame_Ins	INS	ENST00000375180.2	37	c.329_330insGCCGCC	CCDS14356.1																																																																																				0.748	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		4	2						4	2	---	---	---	---
USP17L2	377630	broad.mit.edu	37	8	11994626	11994627	+	IGR	DEL	GT	GT	-	rs576201574		TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr8:11994626_11994627delGT	ENST00000333796.3	-	0	1910				FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2						apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						gtatttgtgcgtgtgtgtgtgt	0.51																																						ENST00000434078.2																			0																																																	SO:0001628	intergenic_variant	0							g.chr8:11994626_11994627delGT	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295		8.37:g.11994636_11994637delGT								NR_027425.1						0	608	+									RNA	DEL	ENST00000333796.3	37		CCDS43713.1																																																																																				0.510	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		7	163						7	163	---	---	---	---
EPPK1	83481	broad.mit.edu	37	8	144945742	144945743	+	In_Frame_Ins	INS	-	-	AAGGTGACCCTG	rs528701859|rs199724348	byFrequency	TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr8:144945742_144945743insAAGGTGACCCTG	ENST00000525985.1	-	2	1750_1751	c.1679_1680insCAGGGTCACCTT	c.(1678-1680)ttt>ttCAGGGTCACCTTt	p.560_560F>FRVTF				P58107	EPIPL_HUMAN	epiplakin 1	560						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCAGCCCAGAAAAGGTGACCCT	0.639														72	0.014377	0.0522	0.0043	5008	,	,		19876	0.0		0.0	False		,,,				2504	0.0					ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1678-1680)ttc>tCAGGGTCACCTTtc		epiplakin 1				164,3932		7,150,1891						-5.4	0.0			28	2,8124		0,2,4061	no	coding	EPPK1	NM_031308.1		7,152,5952	A1A1,A1R,RR		0.0246,4.0039,1.3582				166,12056				SO:0001652	inframe_insertion	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144945742_144945743insAAGGTGACCCTG	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.1668_1679dupCAGGGTCACCTT	8.37:g.144945742_144945743insAAGGTGACCCTG	ENSP00000436337:p.ArgValThrPhe560dup						p.559_560insSGSP			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	1750_1751	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		559					Q76E58|Q9NSU9	In_Frame_Ins	INS	ENST00000525985.1	37	c.1679_1680insCAGGGTCACCTT																																																																																					0.639	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		9	20						9	20	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr9:119976989_119976991delCAG	ENST00000313400.4	-	3	761_763	c.661_663delCTG	c.(661-663)ctgdel	p.L221del	ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del			O75129	ASTN2_HUMAN	astrotactin 2	221					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(661-663)del		astrotactin 2																																				SO:0001651	inframe_deletion	23245					integral to membrane		g.chr9:119976989_119976991delCAG	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.661_663delCTG	9.37:g.119976998_119977000delCAG	ENSP00000314038:p.Leu221del					ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del	p.L221del			O75129	ASTN2_HUMAN			3	761_763	-			221					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	In_Frame_Del	DEL	ENST00000313400.4	37	c.661_663delCTG																																																																																					0.601	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		9	117						9	117	---	---	---	---
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs397840789|rs201322413		TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr14:71275774_71275776delCCT	ENST00000554752.2	-	1	112_114	c.113_115delAGG	c.(112-117)gaggcg>gcg	p.E38del	RP6-65G23.3_ENST00000557691.1_lincRNA|MAP3K9_ENST00000555993.2_In_Frame_Del_p.E38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.E38del	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	38	Ala-rich.|Poly-Glu.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.E38delE(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			1	Deletion - In frame(1)	p.E38delE(1)	ovary(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(112-117)gcg>g		mitogen-activated protein kinase kinase kinase 9																																				SO:0001651	inframe_deletion	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71275774_71275776delCCT	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.113_115delAGG	14.37:g.71275783_71275785delCCT	ENSP00000451612:p.Glu38del					MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del	p.EA38del			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	1	112_114	-			38			Ala-rich.|Poly-Glu.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	In_Frame_Del	DEL	ENST00000554752.2	37	c.113_115delAGG																																																																																					0.773	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			4	6						4	6	---	---	---	---
TMEM199	147007	broad.mit.edu	37	17	26684394	26684395	+	5'Flank	INS	-	-	G	rs202089331|rs17856014	byFrequency	TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr17:26684394_26684395insG	ENST00000292114.3	+	0	0				CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000395404.3_5'Flank|POLDIP2_ENST00000540200.1_Splice_Site|POLDIP2_ENST00000003607.4_5'UTR|TMEM199_ENST00000509083.1_5'Flank	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		AGAGCGGCTTTGCCACCGGGCC	0.762																																						ENST00000540200.1																			0											c.e1+1		polymerase (DNA-directed), delta interacting protein 2				2770,50		1380,10,20						0.4	0.1		dbSNP_130	4	6440,112		3203,34,39	no	frameshift	POLDIP2	NM_015584.3		4583,44,59	A1A1,A1R,RR		1.7094,1.773,1.7286				9210,162				SO:0001631	upstream_gene_variant	26073					mitochondrial nucleoid|nucleus		g.chr17:26684394_26684395insG	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498		17.37:g.26684395_26684395dupG	Exception_encountered					POLDIP2_ENST00000003607.4_5'UTR		NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	1	78	-	all_lung(13;0.000354)|Lung NSC(42;0.00115)								Splice_Site	INS	ENST00000292114.3	37		CCDS11228.1																																																																																				0.762	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		2	4						2	4	---	---	---	---
ZNF439	90594	broad.mit.edu	37	19	11978582	11978582	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr19:11978582delA	ENST00000304030.2	+	3	898	c.698delA	c.(697-699)gaafs	p.E233fs	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Frame_Shift_Del_p.E97fs	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	233					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						CTTATCCATGAAAGAACTCAC	0.373																																						ENST00000304030.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						c.(697-699)gafs		zinc finger protein 439							98.0	97.0	97.0					19																	11978582		2203	4300	6503	SO:0001589	frameshift_variant	90594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11978582delA	AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"""Zinc fingers, C2H2-type"", ""-"""	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.698delA	19.37:g.11978582delA	ENSP00000305077:p.Glu233fs					ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Frame_Shift_Del_p.E97fs	p.E233fs	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN			3	898	+			233					Q8IYZ7|Q96SU1	Frame_Shift_Del	DEL	ENST00000304030.2	37	c.698delA	CCDS12268.1																																																																																				0.373	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1			46	53						46	53	---	---	---	---
ZNF226	7769	broad.mit.edu	37	19	44681615	44681616	+	Frame_Shift_Del	DEL	AA	AA	-	rs368880544		TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr19:44681615_44681616delAA	ENST00000590089.1	+	7	2567_2568	c.2200_2201delAA	c.(2200-2202)aaafs	p.K734fs	ZNF226_ENST00000337433.5_Frame_Shift_Del_p.K734fs|ZNF226_ENST00000454662.2_Frame_Shift_Del_p.K734fs|ZNF226_ENST00000588883.1_3'UTR			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	734					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)						Prostate(69;0.0352)|all_neural(266;0.202)				TGTGTGTGGTAAAGTCTTCAGT	0.45																																					Pancreas(115;581 1665 13228 19278 50070)	ENST00000590089.1																			0											c.(2200-2202)afs		zinc finger protein 226																																				SO:0001589	frameshift_variant	7769				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44681615_44681616delAA	AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"""Zinc fingers, C2H2-type"", ""-"""	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.2200_2201delAA	19.37:g.44681615_44681616delAA	ENSP00000465121:p.Lys734fs					ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Frame_Shift_Del_p.K734fs|ZNF226_ENST00000454662.2_Frame_Shift_Del_p.K734fs	p.K734fs			Q9NYT6	ZN226_HUMAN			7	2567_2568	+		Prostate(69;0.0352)|all_neural(266;0.202)	734					Q8WWE6|Q96TE6|Q9NS44	Frame_Shift_Del	DEL	ENST00000590089.1	37	c.2200_2201delAA	CCDS46102.1																																																																																				0.450	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1			38	99						38	99	---	---	---	---
