#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	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KTI12	112970	broad.mit.edu	37	1	52498549	52498549	+	Silent	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:52498549C>A	ENST00000371614.1	-	1	939	c.885G>T	c.(883-885)ggG>ggT	p.G295G	TXNDC12_ENST00000371626.4_Intron|RP11-91A18.4_ENST00000425802.1_RNA	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	295							ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						TGAGCAAGTCCCCGGGGACAG	0.597																																						uc001ctj.1		NA																	0				central_nervous_system(2)	2						c.(883-885)GGG>GGT		KTI12 homolog, chromatin associated							91.0	95.0	94.0					1																	52498549		2203	4300	6503	SO:0001819	synonymous_variant	112970						ATP binding	g.chr1:52498549C>A		CCDS562.1	1p32.3	2008-02-05			ENSG00000198841	ENSG00000198841			25160	protein-coding gene	gene with protein product						11929532	Standard	NM_138417		Approved	TOT4, MGC20419, SBBI81	uc001ctj.1	Q96EK9	OTTHUMG00000008630	ENST00000371614.1:c.885G>T	1.37:g.52498549C>A						TXNDC12_uc001cti.2_Intron	p.G295G	NM_138417	NP_612426	Q96EK9	KTI12_HUMAN			1	924	-			295						Silent	SNP	ENST00000371614.1	37	c.885G>T	CCDS562.1																																																																																				0.597	KTI12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023821.1	NM_138417		58	45	1	0	2.12e-23	4.35e-23	58	45				
DPYD	1806	broad.mit.edu	37	1	97771778	97771778	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:97771778G>C	ENST00000370192.3	-	17	2234	c.2134C>G	c.(2134-2136)Cca>Gca	p.P712A	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	712					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	GTGACATTTGGGGTCAGCTTG	0.448																																						uc001drv.2		NA																	0				ovary(3)|skin(3)|breast(2)	8						c.(2134-2136)CCA>GCA		dihydropyrimidine dehydrogenase isoform 1	Capecitabine(DB01101)|Enfuvirtide(DB00109)						187.0	185.0	186.0					1																	97771778		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:97771778G>C	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2134C>G	1.37:g.97771778G>C	ENSP00000359211:p.Pro712Ala						p.P712A	NM_000110	NP_000101	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	17	2271	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	712					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.2134C>G	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224968	0.79576	.	.	ENSG00000188641	ENST00000370192	D	0.96830	-4.14	6.08	6.08	0.98989	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.98957	0.9645	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99104	1.0844	10	0.87932	D	0	-10.0162	20.6721	0.99693	0.0:0.0:1.0:0.0	.	712	Q12882	DPYD_HUMAN	A	712	ENSP00000359211:P712A	ENSP00000359211:P712A	P	-	1	0	DPYD	97544366	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.437000	0.97535	2.894000	0.99253	0.591000	0.81541	CCA		0.448	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		34	146	0	0	0	0	34	146				
AMY2A	279	broad.mit.edu	37	1	104160645	104160645	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:104160645G>T	ENST00000414303.2	+	2	302	c.238G>T	c.(238-240)Gtt>Ttt	p.V80F		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	80					carbohydrate catabolic process (GO:0016052)|carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|calcium ion binding (GO:0005509)|chloride ion binding (GO:0031404)			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Icodextrin(DB00702)|Miglitol(DB00491)	ATACCAACCAGTTAGCTATAA	0.353																																						uc001dut.2		NA																	0				ovary(1)|skin(1)	2						c.(238-240)GTT>TTT		pancreatic amylase alpha 2A precursor	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)						152.0	141.0	145.0					1																	104160645		2201	4276	6477	SO:0001583	missense	279				carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding	g.chr1:104160645G>T	BC007060	CCDS783.1	1p21.1	2012-10-02	2007-05-03		ENSG00000243480	ENSG00000243480	3.2.1.1		477	protein-coding gene	gene with protein product		104650	"""amylase, alpha 2A; pancreatic"""	AMY2		3260028	Standard	NM_000699		Approved		uc001dut.3	P04746	OTTHUMG00000011023	ENST00000414303.2:c.238G>T	1.37:g.104160645G>T	ENSP00000397582:p.Val80Phe					AMY2A_uc010ouq.1_Missense_Mutation_p.V80F	p.V80F	NM_000699	NP_000690	P04746	AMYP_HUMAN		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	2	302	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	80					B9EJG1|Q9UBH3	Missense_Mutation	SNP	ENST00000414303.2	37	c.238G>T	CCDS783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	15.90|15.90	2.969267|2.969267	0.53614|0.53614	.|.	.|.	ENSG00000243480|ENSG00000243480	ENST00000423678|ENST00000414303;ENST00000393932	.|D	.|0.98313	.|-4.86	3.47|3.47	-3.25|-3.25	0.05079|0.05079	.|Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	.|0.149271	.|0.64402	.|D	.|0.000020	D|D	0.98394|0.98394	0.9466|0.9466	H|H	0.95079|0.95079	3.62|3.62	0.35890|0.35890	D|D	0.829602|0.829602	.|P;P	.|0.51933	.|0.949;0.874	.|P;P	.|0.55222	.|0.771;0.751	D|D	0.99544|0.99544	1.0964|1.0964	5|10	.|0.87932	.|D	.|0	.|.	12.7702|12.7702	0.57417|0.57417	0.878:0.0:0.122:0.0|0.878:0.0:0.122:0.0	.|.	.|80;80	.|B9EJG1;P04746	.|.;AMYP_HUMAN	I|F	78|80	.|ENSP00000397582:V80F	.|ENSP00000377509:V80F	S|V	+|+	2|1	0|0	AMY2A|AMY2A	103962168|103962168	0.001000|0.001000	0.12720|0.12720	0.981000|0.981000	0.43875|0.43875	0.966000|0.966000	0.64601|0.64601	0.090000|0.090000	0.15025|0.15025	-0.559000|-0.559000	0.06110|0.06110	-0.463000|-0.463000	0.05309|0.05309	AGT|GTT		0.353	AMY2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030315.1	NM_000699		54	76	1	0	2.27e-33	4.71e-33	54	76				
YY1AP1	55249	broad.mit.edu	37	1	155629472	155629472	+	Silent	SNP	T	T	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:155629472T>A	ENST00000295566.4	-	11	2390	c.2367A>T	c.(2365-2367)acA>acT	p.T789T	YY1AP1_ENST00000355499.4_Silent_p.T743T|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000404643.1_Silent_p.T723T|YY1AP1_ENST00000535662.1_Silent_p.T589T|YY1AP1_ENST00000407221.1_Silent_p.T712T|YY1AP1_ENST00000361831.5_Silent_p.T732T|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000368339.5_Silent_p.T881T|YY1AP1_ENST00000311573.5_Silent_p.T712T|YY1AP1_ENST00000359205.5_Silent_p.T732T|YY1AP1_ENST00000368340.5_Silent_p.T861T|YY1AP1_ENST00000347088.5_Silent_p.T743T|YY1AP1_ENST00000368330.2_Silent_p.T743T	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	789					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TGATTTCCTCTGTAGCATCTT	0.507																																						uc001fln.2		NA																	0				ovary(2)|skin(1)	3						c.(2365-2367)ACA>ACT		YY1-associated protein isoform 2							119.0	130.0	126.0					1																	155629472		2203	4300	6503	SO:0001819	synonymous_variant	55249				regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:155629472T>A	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.2367A>T	1.37:g.155629472T>A						YY1AP1_uc001flg.2_Silent_p.T528T|YY1AP1_uc010pgg.1_Silent_p.T628T|YY1AP1_uc010pgh.1_Silent_p.T732T|YY1AP1_uc010pgi.1_Silent_p.T881T|YY1AP1_uc001flh.2_Silent_p.T861T|YY1AP1_uc009wqt.2_Silent_p.T712T|YY1AP1_uc001flk.2_Silent_p.T732T|YY1AP1_uc001fll.2_Silent_p.T743T|YY1AP1_uc009wqv.2_Silent_p.T460T|YY1AP1_uc001flm.2_Silent_p.T732T|YY1AP1_uc001fli.2_Silent_p.T743T|YY1AP1_uc009wqu.2_Silent_p.T576T|YY1AP1_uc001flj.2_Silent_p.T723T|YY1AP1_uc009wqw.2_Silent_p.T712T|YY1AP1_uc001flo.2_Silent_p.T677T|YY1AP1_uc001flp.2_Silent_p.T743T	p.T789T	NM_139118	NP_620829	Q9H869	YYAP1_HUMAN			11	2391	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		789					B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Silent	SNP	ENST00000295566.4	37	c.2367A>T	CCDS1115.1																																																																																				0.507	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118		7	213	0	0	0	0	7	213				
SEMA4A	64218	broad.mit.edu	37	1	156142765	156142765	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:156142765G>A	ENST00000368285.3	+	11	1550	c.1283G>A	c.(1282-1284)gGg>gAg	p.G428E	SEMA4A_ENST00000368282.1_Missense_Mutation_p.G428E|SEMA4A_ENST00000368284.1_Missense_Mutation_p.G296E|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368286.2_Missense_Mutation_p.G296E|SEMA4A_ENST00000355014.2_Missense_Mutation_p.G428E	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	428	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					GGCCTTGATGGGCACAGCCAT	0.577																																						uc001fnl.2		NA																	0				ovary(1)|skin(1)	2						c.(1282-1284)GGG>GAG		semaphorin B precursor							74.0	63.0	67.0					1																	156142765		2203	4300	6503	SO:0001583	missense	64218				axon guidance	integral to membrane|plasma membrane	receptor activity	g.chr1:156142765G>A	AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"""Semaphorins"""	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.1283G>A	1.37:g.156142765G>A	ENSP00000357268:p.Gly428Glu					SEMA4A_uc009wrq.2_Missense_Mutation_p.G428E|SEMA4A_uc001fnm.2_Missense_Mutation_p.G428E|SEMA4A_uc001fnn.2_Missense_Mutation_p.G296E|SEMA4A_uc001fno.2_Missense_Mutation_p.G428E	p.G428E	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN			11	1387	+	Hepatocellular(266;0.158)		428			Sema.|Extracellular (Potential).		B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Missense_Mutation	SNP	ENST00000368285.3	37	c.1283G>A	CCDS1132.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703720	0.68501	.	.	ENSG00000196189	ENST00000355014;ENST00000368285;ENST00000368284;ENST00000368283;ENST00000544376;ENST00000368286;ENST00000368282	T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76	5.23	5.23	0.72850	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.058390	0.64402	D	0.000003	T	0.46795	0.1411	M	0.88906	2.99	0.52501	D	0.999955	D;D	0.69078	0.995;0.997	D;D	0.71656	0.974;0.974	T	0.55982	-0.8054	10	0.87932	D	0	.	11.4006	0.49868	0.0:0.0:0.8193:0.1807	.	296;428	Q5TCJ6;Q9H3S1	.;SEM4A_HUMAN	E	428;428;296;390;390;296;428	ENSP00000347117:G428E;ENSP00000357268:G428E;ENSP00000357267:G296E;ENSP00000357269:G296E;ENSP00000357265:G428E	ENSP00000347117:G428E	G	+	2	0	SEMA4A	154409389	1.000000	0.71417	0.406000	0.26421	0.768000	0.43524	7.024000	0.76443	2.426000	0.82243	0.561000	0.74099	GGG		0.577	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2	NM_022367		11	41	0	0	0	0	11	41				
UCK2	7371	broad.mit.edu	37	1	165860556	165860556	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:165860556C>G	ENST00000367879.4	+	3	656	c.353C>G	c.(352-354)tCc>tGc	p.S118C	UCK2_ENST00000372212.4_Missense_Mutation_p.S118C	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	118					cellular response to oxygen levels (GO:0071453)|CTP salvage (GO:0044211)|feeding behavior (GO:0007631)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to axon injury (GO:0048678)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					GTCTCCCATTCCCGGTAAGTG	0.502																																						uc001gdp.2		NA																	0				ovary(1)	1						c.(352-354)TCC>TGC		uridine-cytidine kinase 2							114.0	104.0	107.0					1																	165860556		2203	4300	6503	SO:0001583	missense	7371				pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity	g.chr1:165860556C>G	AF236637	CCDS1252.1	1p32	2012-10-02	2004-07-13	2004-07-14	ENSG00000143179	ENSG00000143179	2.7.1.48		12562	protein-coding gene	gene with protein product		609329	"""uridine monophosphate kinase"""	UMPK			Standard	NM_012474		Approved		uc001gdp.3	Q9BZX2	OTTHUMG00000040117	ENST00000367879.4:c.353C>G	1.37:g.165860556C>G	ENSP00000356853:p.Ser118Cys					UCK2_uc010plb.1_Missense_Mutation_p.P28A	p.S118C	NM_012474	NP_036606	Q9BZX2	UCK2_HUMAN			3	534	+	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)		118					Q5VV91|Q7KZV3|Q92528|Q96KG5|Q9BU42	Missense_Mutation	SNP	ENST00000367879.4	37	c.353C>G	CCDS1252.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575114	0.86542	.	.	ENSG00000143179	ENST00000367879;ENST00000372212	.	.	.	4.95	4.95	0.65309	Phosphoribulokinase/uridine kinase (1);	0.000000	0.85682	D	0.000000	T	0.77691	0.4168	M	0.84773	2.715	0.80722	D	1.000000	D	0.89917	1.0	D	0.76071	0.987	T	0.81822	-0.0756	8	0.72032	D	0.01	-29.1683	16.0497	0.80745	0.0:1.0:0.0:0.0	.	118	Q9BZX2	UCK2_HUMAN	C	118	.	ENSP00000356853:S118C	S	+	2	0	UCK2	164127180	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.568000	0.82369	2.454000	0.82982	0.650000	0.86243	TCC		0.502	UCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096753.1	NM_012474		7	20	0	0	0	0	7	20				
HMCN1	83872	broad.mit.edu	37	1	186158872	186158872	+	Silent	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:186158872G>A	ENST00000271588.4	+	107	16999	c.16770G>A	c.(16768-16770)gtG>gtA	p.V5590V	HMCN1_ENST00000367492.2_Silent_p.V5473V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5590					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGAAAGGAGTGGTGTATACAA	0.493																																						uc001grq.1		NA																	0				ovary(22)|skin(1)	23						c.(16768-16770)GTG>GTA		hemicentin 1 precursor							108.0	93.0	98.0					1																	186158872		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186158872G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.16770G>A	1.37:g.186158872G>A						HMCN1_uc001grs.1_Silent_p.V1042V	p.V5590V	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			107	16999	+			5590					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.16770G>A	CCDS30956.1																																																																																				0.493	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		19	32	0	0	0	0	19	32				
USH2A	7399	broad.mit.edu	37	1	215847971	215847971	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:215847971C>T	ENST00000307340.3	-	63	13668	c.13282G>A	c.(13282-13284)Ggt>Agt	p.G4428S	USH2A_ENST00000366943.2_Missense_Mutation_p.G4428S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4428	Fibronectin type-III 29. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCTGTGCAACCTCCATTCGTG	0.512										HNSCC(13;0.011)																												uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(13282-13284)GGT>AGT		usherin isoform B							71.0	70.0	70.0					1																	215847971		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215847971C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.13282G>A	1.37:g.215847971C>T	ENSP00000305941:p.Gly4428Ser	HNSCC(13;0.011)					p.G4428S	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	13669	-			4428			Extracellular (Potential).|Fibronectin type-III 29.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.13282G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916150	0.92178	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.68331	-0.32;-0.08	4.67	4.67	0.58626	Fibronectin, type III (5);Immunoglobulin-like fold (1);	0.000000	0.42964	U	0.000623	D	0.86990	0.6066	H	0.94847	3.59	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91001	0.4842	10	0.72032	D	0.01	.	17.9519	0.89056	0.0:1.0:0.0:0.0	.	4428	O75445	USH2A_HUMAN	S	4428	ENSP00000305941:G4428S;ENSP00000355910:G4428S	ENSP00000305941:G4428S	G	-	1	0	USH2A	213914594	1.000000	0.71417	0.130000	0.21974	0.942000	0.58702	7.384000	0.79751	2.303000	0.77524	0.467000	0.42956	GGT		0.512	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		4	53	0	0	0	0	4	53				
TGFB2	7042	broad.mit.edu	37	1	218520300	218520300	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:218520300C>T	ENST00000366930.4	+	1	724	c.257C>T	c.(256-258)gCg>gTg	p.A86V	RP11-224O19.2_ENST00000414452.1_RNA|TGFB2_ENST00000366929.4_Missense_Mutation_p.A86V	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	86					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		AGCCGGAGGGCGGCCGCCTGC	0.587																																						uc001hlm.2		NA																	0					0						c.(256-258)GCG>GTG		transforming growth factor, beta 2 isoform 2							22.0	21.0	22.0					1																	218520300		2200	4296	6496	SO:0001583	missense	7042				activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding	g.chr1:218520300C>T	M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"""Endogenous ligands"""	11768	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-2"""	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.257C>T	1.37:g.218520300C>T	ENSP00000355897:p.Ala86Val					TGFB2_uc001hll.2_Missense_Mutation_p.A86V|TGFB2_uc001hln.2_Missense_Mutation_p.A86V|TGFB2_uc010pue.1_RNA|TGFB2_uc001hlo.2_RNA	p.A86V	NM_003238	NP_003229	P61812	TGFB2_HUMAN		all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)	1	910	+			86					B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Missense_Mutation	SNP	ENST00000366930.4	37	c.257C>T	CCDS1521.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.425576	0.62733	.	.	ENSG00000092969	ENST00000366930;ENST00000366929	T;T	0.66460	-0.21;-0.21	5.45	5.45	0.79879	Transforming growth factor-beta, N-terminal (1);	0.097704	0.64402	D	0.000001	T	0.77738	0.4175	L	0.47716	1.5	0.80722	D	1	P;B;D	0.89917	0.928;0.386;1.0	P;B;D	0.70487	0.551;0.044;0.969	T	0.76038	-0.3105	10	0.46703	T	0.11	.	19.4714	0.94965	0.0:1.0:0.0:0.0	.	86;86;87	P61812-2;P61812;Q59EG9	.;TGFB2_HUMAN;.	V	86	ENSP00000355897:A86V;ENSP00000355896:A86V	ENSP00000355896:A86V	A	+	2	0	TGFB2	216586923	1.000000	0.71417	0.929000	0.37066	0.993000	0.82548	5.709000	0.68384	2.837000	0.97791	0.591000	0.81541	GCG		0.587	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238		13	21	0	0	0	0	13	21				
EPHX1	2052	broad.mit.edu	37	1	226033041	226033041	+	Missense_Mutation	SNP	G	G	A	rs2234701	byFrequency	TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:226033041G>A	ENST00000366837.4	+	9	1557	c.1361G>A	c.(1360-1362)cGg>cAg	p.R454Q	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Missense_Mutation_p.R454Q	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	454			R -> Q (in allele EPHX1*5; dbSNP:rs2234701). {ECO:0000269|PubMed:11058921}.		aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GTGCTGGAGCGGCAATGACCC	0.607																																						uc001hpk.2		NA																	0				ovary(3)|lung(1)	4						c.(1360-1362)CGG>CAG		epoxide hydrolase 1		G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	25.0	26.0	26.0		1361,1361	-6.1	0.0	1	dbSNP_98	26	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	EPHX1	NM_000120.3,NM_001136018.2	43,43	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign,benign	454/456,454/456	226033041	3,13003	2203	4300	6503	SO:0001583	missense	2052				aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	g.chr1:226033041G>A	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.1361G>A	1.37:g.226033041G>A	ENSP00000355802:p.Arg454Gln					EPHX1_uc001hpl.2_Missense_Mutation_p.R454Q	p.R454Q	NM_001136018	NP_001129490	P07099	HYEP_HUMAN			9	1441	+	Breast(184;0.197)		454					B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	37	c.1361G>A	CCDS1547.1	.	.	.	.	.	.	.	.	.	.	G	0.522	-0.861569	0.02610	0.0	3.49E-4	ENSG00000143819	ENST00000272167;ENST00000366837	T;T	0.04454	3.62;3.62	4.94	-6.08	0.02151	.	0.557382	0.17075	N	0.188025	T	0.01489	0.0048	N	0.03115	-0.41	0.09310	N	1	B	0.17465	0.022	B	0.06405	0.002	T	0.41360	-0.9513	10	0.14252	T	0.57	-6.4958	6.3678	0.21465	0.5366:0.0:0.2474:0.216	rs2234701	454	P07099	HYEP_HUMAN	Q	454	ENSP00000272167:R454Q;ENSP00000355802:R454Q	ENSP00000272167:R454Q	R	+	2	0	EPHX1	224099664	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-1.542000	0.02196	-1.484000	0.01856	-1.587000	0.00848	CGG		0.607	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		11	23	0	0	0	0	11	23				
ACTN2	88	broad.mit.edu	37	1	236911018	236911018	+	Silent	SNP	T	T	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:236911018T>C	ENST00000366578.4	+	13	1624	c.1458T>C	c.(1456-1458)atT>atC	p.I486I	ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000542672.1_Silent_p.I486I	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	486					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GCCAGAAAATTTGTGACCAGT	0.408																																						uc001hyf.2		NA																	0				ovary(4)|skin(1)	5						c.(1456-1458)ATT>ATC		actinin, alpha 2							49.0	51.0	50.0					1																	236911018		2203	4300	6503	SO:0001819	synonymous_variant	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236911018T>C	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1458T>C	1.37:g.236911018T>C						ACTN2_uc001hyg.2_Silent_p.I278I|ACTN2_uc009xgi.1_Silent_p.I486I|ACTN2_uc010pxu.1_Silent_p.I175I|ACTN2_uc001hyh.2_Silent_p.I174I	p.I486I	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		13	1662	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	486			Spectrin 2.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Silent	SNP	ENST00000366578.4	37	c.1458T>C	CCDS1613.1																																																																																				0.408	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		3	29	0	0	0	0	3	29				
RYR2	6262	broad.mit.edu	37	1	237675051	237675051	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:237675051G>A	ENST00000366574.2	+	24	3099	c.2782G>A	c.(2782-2784)Gag>Aag	p.E928K	RYR2_ENST00000360064.6_Missense_Mutation_p.E926K|RYR2_ENST00000542537.1_Missense_Mutation_p.E912K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	928	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCCTGAACAGGAGCGCAATTA	0.403																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(2782-2784)GAG>AAG		cardiac muscle ryanodine receptor							59.0	56.0	57.0					1																	237675051		1887	4116	6003	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237675051G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2782G>A	1.37:g.237675051G>A	ENSP00000355533:p.Glu928Lys						p.E928K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		24	2902	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	928			Cytoplasmic (By similarity).|1.|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.2782G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	36	5.640940	0.96693	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.93488	-3.23;-3.23;-3.23	5.54	5.54	0.83059	Ryanodine receptor Ryr (1);	0.000000	0.64402	D	0.000004	D	0.96803	0.8956	M	0.90977	3.165	0.80722	D	1	P	0.48911	0.917	P	0.54140	0.743	D	0.97414	1.0004	10	0.87932	D	0	.	19.4831	0.95018	0.0:0.0:1.0:0.0	.	928	Q92736	RYR2_HUMAN	K	928;926;912	ENSP00000355533:E928K;ENSP00000353174:E926K;ENSP00000443798:E912K	ENSP00000353174:E926K	E	+	1	0	RYR2	235741674	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.781000	0.99029	2.602000	0.87976	0.655000	0.94253	GAG		0.403	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		3	12	0	0	0	0	3	12				
RYR2	6262	broad.mit.edu	37	1	237813233	237813233	+	Silent	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:237813233C>T	ENST00000366574.2	+	50	7886	c.7569C>T	c.(7567-7569)gcC>gcT	p.A2523A	RYR2_ENST00000360064.6_Silent_p.A2521A|RYR2_ENST00000542537.1_Silent_p.A2507A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2523	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTGCACAGCCGTCTTGCCAT	0.463																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(7567-7569)GCC>GCT		cardiac muscle ryanodine receptor							168.0	163.0	164.0					1																	237813233		2024	4184	6208	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237813233C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7569C>T	1.37:g.237813233C>T							p.A2523A	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		50	7689	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2523			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.7569C>T	CCDS55691.1																																																																																				0.463	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		41	118	0	0	0	0	41	118				
ZP4	57829	broad.mit.edu	37	1	238050710	238050710	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:238050710G>C	ENST00000366570.4	-	5	863	c.705C>G	c.(703-705)ttC>ttG	p.F235L	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	235	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ATGGAAACTGGAACAGAACAA	0.522																																					NSCLC(166;160 2029 11600 18754 19936)	uc001hym.2		NA																	0				ovary(2)|skin(1)	3						c.(703-705)TTC>TTG		zona pellucida glycoprotein 4 preproprotein							164.0	156.0	159.0					1																	238050710		2203	4300	6503	SO:0001583	missense	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238050710G>C	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.705C>G	1.37:g.238050710G>C	ENSP00000355529:p.Phe235Leu					LOC100130331_uc010pyc.1_Intron	p.F235L	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	705	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	235			ZP.|Extracellular (Potential).		B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	c.705C>G	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.830340	0.32329	.	.	ENSG00000116996	ENST00000366570	D	0.82711	-1.64	5.26	1.21	0.21127	Zona pellucida sperm-binding protein (3);	0.121953	0.56097	D	0.000039	D	0.91057	0.7186	M	0.93678	3.445	0.09310	N	1	D	0.65815	0.995	D	0.67382	0.951	T	0.82554	-0.0399	10	0.72032	D	0.01	-27.1514	8.5661	0.33540	0.3318:0.0:0.6682:0.0	.	235	Q12836	ZP4_HUMAN	L	235	ENSP00000355529:F235L	ENSP00000355529:F235L	F	-	3	2	ZP4	236117333	0.999000	0.42202	0.006000	0.13384	0.019000	0.09904	0.878000	0.28126	0.582000	0.29556	0.655000	0.94253	TTC		0.522	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			12	170	0	0	0	0	12	170				
CHRM3	1131	broad.mit.edu	37	1	240071149	240071149	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:240071149G>A	ENST00000255380.4	+	5	1177	c.398G>A	c.(397-399)cGa>cAa	p.R133Q		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	133					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	ATCATGAATCGATGGGCCTTA	0.473																																						uc001hyp.2		NA																	0				ovary(4)|skin(1)	5						c.(397-399)CGA>CAA		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						107.0	96.0	100.0					1																	240071149		2203	4300	6503	SO:0001583	missense	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240071149G>A	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.398G>A	1.37:g.240071149G>A	ENSP00000255380:p.Arg133Gln						p.R133Q	NM_000740	NP_000731	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	1177	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	133			Extracellular (By similarity).		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	c.398G>A	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.564199	0.27915	.	.	ENSG00000133019	ENST00000255380	T	0.72394	-0.65	5.9	5.9	0.94986	GPCR, rhodopsin-like superfamily (1);	0.255230	0.38381	N	0.001712	T	0.51126	0.1656	N	0.12961	0.28	0.28192	N	0.927728	B	0.29646	0.253	B	0.25987	0.065	T	0.47005	-0.9150	10	0.32370	T	0.25	-9.5856	10.2881	0.43579	0.1493:0.0:0.8507:0.0	.	133	P20309	ACM3_HUMAN	Q	133	ENSP00000255380:R133Q	ENSP00000255380:R133Q	R	+	2	0	CHRM3	238137772	0.803000	0.28956	0.170000	0.22879	0.939000	0.58152	4.059000	0.57470	2.788000	0.95919	0.650000	0.86243	CGA		0.473	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		25	63	0	0	0	0	25	63				
PLD5	200150	broad.mit.edu	37	1	242451674	242451674	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:242451674G>A	ENST00000536534.2	-	3	726	c.485C>T	c.(484-486)tCa>tTa	p.S162L	PLD5_ENST00000427495.1_Missense_Mutation_p.S100L|PLD5_ENST00000442594.2_Missense_Mutation_p.S70L			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	162						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CTGACATGCTGATGGATGAGT	0.428																																						uc001hzn.1		NA																	0				ovary(6)	6						c.(484-486)TCA>TTA		RecName: Full=Inactive phospholipase D5;          Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc;							192.0	165.0	174.0					1																	242451674		2203	4300	6503	SO:0001583	missense	200150					integral to membrane	catalytic activity	g.chr1:242451674G>A	AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.485C>T	1.37:g.242451674G>A	ENSP00000440896:p.Ser162Leu					PLD5_uc001hzl.3_Missense_Mutation_p.S100L|PLD5_uc001hzm.3_Intron|PLD5_uc001hzo.1_Missense_Mutation_p.S70L	p.S162L			Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		3	612	-	Melanoma(84;0.242)		162					A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	c.485C>T	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	G	12.68	2.009450	0.35415	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534;ENST00000459864	T;T;T;T	0.52983	0.71;0.72;0.69;0.64	4.33	2.42	0.29668	.	0.433011	0.23194	N	0.050866	T	0.33702	0.0872	L	0.33753	1.03	0.30951	N	0.724756	B;B;B	0.10296	0.003;0.001;0.0	B;B;B	0.11329	0.006;0.002;0.002	T	0.35025	-0.9805	10	0.62326	D	0.03	-7.0435	7.6205	0.28183	0.2045:0.0:0.7955:0.0	.	70;162;100	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	L	100;70;162;100	ENSP00000401285:S100L;ENSP00000414188:S70L;ENSP00000440896:S162L;ENSP00000438191:S100L	ENSP00000401285:S100L	S	-	2	0	PLD5	240518297	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.445000	0.44899	0.965000	0.38133	-0.186000	0.12905	TCA		0.428	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		12	64	0	0	0	0	12	64				
CNST	163882	broad.mit.edu	37	1	246810610	246810610	+	Silent	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:246810610C>T	ENST00000366513.4	+	9	1376	c.1107C>T	c.(1105-1107)gcC>gcT	p.A369A	CNST_ENST00000366512.3_Silent_p.A369A|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	369					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						GCGCTGAAGCCACGTTAGCGC	0.587											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ibp.2		NA																	0					0						c.(1105-1107)GCC>GCT		hypothetical protein LOC163882 isoform 1							83.0	85.0	84.0					1																	246810610		2203	4300	6503	SO:0001819	synonymous_variant	163882				positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	g.chr1:246810610C>T	AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26486	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 64"""	613439	"""chromosome 1 open reading frame 71"""	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.1107C>T	1.37:g.246810610C>T			OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2468	CNST_uc001ibo.3_Silent_p.A369A	p.A369A	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN			9	1485	+			369					Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Silent	SNP	ENST00000366513.4	37	c.1107C>T	CCDS1628.1																																																																																				0.587	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1	NM_152609		43	97	0	0	0	0	43	97				
OR2B11	127623	broad.mit.edu	37	1	247614634	247614634	+	Silent	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:247614634G>A	ENST00000318749.6	-	1	674	c.651C>T	c.(649-651)ctC>ctT	p.L217L		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGAGAAGGATGAGAGCCAGGG	0.582																																						uc010pyx.1		NA																	0				upper_aerodigestive_tract(1)	1						c.(649-651)CTC>CTT		olfactory receptor, family 2, subfamily B,							77.0	77.0	77.0					1																	247614634		2203	4300	6503	SO:0001819	synonymous_variant	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247614634G>A		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.651C>T	1.37:g.247614634G>A							p.L217L	NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	651	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	217			Helical; Name=5; (Potential).		B2RP03	Silent	SNP	ENST00000318749.6	37	c.651C>T	CCDS31090.1																																																																																				0.582	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		7	50	0	0	0	0	7	50				
OR2W3	343171	broad.mit.edu	37	1	248059699	248059699	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:248059699G>A	ENST00000360358.3	+	1	811	c.811G>A	c.(811-813)Ggc>Agc	p.G271S	OR2W3_ENST00000537741.1_Missense_Mutation_p.G271S	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCAGGACCAGGGCATGTTCCT	0.532																																						uc001idp.1		NA																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(811-813)GGC>AGC		olfactory receptor, family 2, subfamily W,							113.0	104.0	107.0					1																	248059699		2203	4300	6503	SO:0001583	missense	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059699G>A	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.811G>A	1.37:g.248059699G>A	ENSP00000353516:p.Gly271Ser					OR2W3_uc010pzb.1_Missense_Mutation_p.G271S	p.G271S	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	1080	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		271			Extracellular (Potential).		Q6IF06|Q8NG86	Missense_Mutation	SNP	ENST00000360358.3	37	c.811G>A	CCDS31099.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.172752	0.57584	.	.	ENSG00000238243	ENST00000537741;ENST00000360358	T;T	0.00063	8.78;8.78	5.29	4.38	0.52667	GPCR, rhodopsin-like superfamily (1);	0.096661	0.45867	N	0.000327	T	0.00271	0.0008	L	0.35414	1.06	0.09310	N	1	D	0.76494	0.999	D	0.79108	0.992	T	0.57648	-0.7775	10	0.66056	D	0.02	.	9.4463	0.38699	0.1633:0.0:0.8367:0.0	.	271	Q7Z3T1	OR2W3_HUMAN	S	271	ENSP00000445853:G271S;ENSP00000353516:G271S	ENSP00000353516:G271S	G	+	1	0	OR2W3	246126322	0.005000	0.15991	1.000000	0.80357	0.673000	0.39480	0.840000	0.27600	1.470000	0.48102	0.609000	0.83330	GGC		0.532	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		24	80	0	0	0	0	24	80				
MYO3A	53904	broad.mit.edu	37	10	26243891	26243891	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr10:26243891T>A	ENST00000265944.5	+	4	423	c.257T>A	c.(256-258)tTt>tAt	p.F86Y	MYO3A_ENST00000376302.1_Missense_Mutation_p.F86Y|MYO3A_ENST00000543632.1_Missense_Mutation_p.F86Y|MYO3A_ENST00000376301.1_Missense_Mutation_p.F86Y	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	86	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GGGATATACTTTAAGAAGGAT	0.373																																						uc001isn.2		NA																	0				ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(256-258)TTT>TAT		myosin IIIA							140.0	142.0	141.0					10																	26243891		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26243891T>A	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.257T>A	10.37:g.26243891T>A	ENSP00000265944:p.Phe86Tyr					MYO3A_uc009xko.1_Missense_Mutation_p.F86Y|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Missense_Mutation_p.F86Y|MYO3A_uc001ism.2_Missense_Mutation_p.F86Y	p.F86Y	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			4	617	+			86			Protein kinase.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.257T>A	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	T	5.280	0.237013	0.10023	.	.	ENSG00000095777	ENST00000265944;ENST00000376302;ENST00000543632;ENST00000376301	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	6.0	6.0	0.97389	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.205916	0.52532	N	0.000069	T	0.31734	0.0806	N	0.02275	-0.615	0.36983	D	0.894399	B;B;B;B	0.10296	0.001;0.002;0.003;0.0	B;B;B;B	0.15484	0.004;0.007;0.013;0.006	T	0.39522	-0.9610	10	0.02654	T	1	.	11.334	0.49492	0.1673:0.0:0.0:0.8327	.	86;86;86;86	F5H0U9;Q0VD65;Q8NEV4;Q4G0X2	.;.;MYO3A_HUMAN;.	Y	86	ENSP00000265944:F86Y;ENSP00000365479:F86Y;ENSP00000445909:F86Y;ENSP00000365478:F86Y	ENSP00000265944:F86Y	F	+	2	0	MYO3A	26283897	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	3.120000	0.50430	2.304000	0.77564	0.523000	0.50628	TTT		0.373	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		6	82	0	0	0	0	6	82				
ZEB1	6935	broad.mit.edu	37	10	31810429	31810429	+	Silent	SNP	A	A	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr10:31810429A>G	ENST00000320985.10	+	7	2276	c.2166A>G	c.(2164-2166)acA>acG	p.T722T	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Silent_p.T702T|ZEB1_ENST00000446923.2_Silent_p.T706T|ZEB1_ENST00000361642.5_Silent_p.T723T|ZEB1_ENST00000542815.3_Silent_p.T655T			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	722					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ACTTGTACACAGCTGAGGGTG	0.438																																					Ovarian(40;423 959 14296 36701 49589)	uc001ivs.3		NA																	0				ovary(3)|central_nervous_system(2)	5						c.(2164-2166)ACA>ACG		zinc finger E-box binding homeobox 1 isoform b							89.0	82.0	84.0					10																	31810429		2203	4300	6503	SO:0001819	synonymous_variant	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31810429A>G	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2166A>G	10.37:g.31810429A>G						ZEB1_uc001ivr.3_Silent_p.T504T|ZEB1_uc010qee.1_Silent_p.T504T|ZEB1_uc010qef.1_Silent_p.T504T|ZEB1_uc009xlj.1_Silent_p.T648T|ZEB1_uc010qeg.1_Silent_p.T581T|ZEB1_uc009xlk.1_Silent_p.T504T|ZEB1_uc001ivt.3_Silent_p.T504T|ZEB1_uc001ivu.3_Silent_p.T723T|ZEB1_uc001ivv.3_Silent_p.T702T|ZEB1_uc010qeh.1_Silent_p.T655T|ZEB1_uc009xlo.1_Silent_p.T705T|ZEB1_uc009xlp.2_Silent_p.T706T	p.T722T	NM_030751	NP_110378	P37275	ZEB1_HUMAN			7	2229	+		Prostate(175;0.0156)	722					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Silent	SNP	ENST00000320985.10	37	c.2166A>G	CCDS7169.1																																																																																				0.438	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		7	41	0	0	0	0	7	41				
DKK1	22943	broad.mit.edu	37	10	54074846	54074846	+	Splice_Site	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr10:54074846G>T	ENST00000373970.3	+	2	545		c.e2+1		DKK1_ENST00000467359.1_Splice_Site|PRKG1-AS1_ENST00000420193.1_RNA	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1						cell morphogenesis involved in differentiation (GO:0000904)|embryonic limb morphogenesis (GO:0030326)|endoderm formation (GO:0001706)|extracellular negative regulation of signal transduction (GO:1900116)|face morphogenesis (GO:0060325)|forebrain development (GO:0030900)|hair follicle development (GO:0001942)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901296)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|regulation of endodermal cell fate specification (GO:0042663)|regulation of receptor internalization (GO:0002090)|response to retinoic acid (GO:0032526)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						TGCAAAAATGGTGAGTCCTGA	0.587																																						uc001jjr.2		NA																	0				ovary(1)|lung(1)|kidney(1)	3						c.e2+1		dickkopf homolog 1 precursor							40.0	39.0	39.0					10																	54074846		2203	4300	6503	SO:0001630	splice_region_variant	22943				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity	g.chr10:54074846G>T		CCDS7246.1	10q11.2	2013-05-15	2013-05-15		ENSG00000107984	ENSG00000107984			2891	protein-coding gene	gene with protein product		605189	"""dickkopf (Xenopus laevis) homolog 1"", ""dickkopf 1 homolog (Xenopus laevis)"""				Standard	NM_012242		Approved	SK, DKK-1	uc001jjr.3	O94907	OTTHUMG00000018247	ENST00000373970.3:c.406+1G>T	10.37:g.54074846G>T						uc001jjq.1_5'Flank|uc009xox.1_5'Flank	p.G136_splice	NM_012242	NP_036374	O94907	DKK1_HUMAN			2	560	+								B2RC19	Splice_Site	SNP	ENST00000373970.3	37	c.406_splice	CCDS7246.1	.	.	.	.	.	.	.	.	.	.	.	23.7	4.441596	0.83993	.	.	ENSG00000107984	ENST00000373970	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2694	0.94003	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DKK1	53744852	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.373000	0.97168	2.639000	0.89480	0.650000	0.86243	.		0.587	DKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048100.1		Intron	6	37	1	0	3.6e-05	6.58e-05	6	37				
GRID1	2894	broad.mit.edu	37	10	87407143	87407143	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr10:87407143T>G	ENST00000327946.7	-	13	2094	c.2009A>C	c.(2008-2010)gAc>gCc	p.D670A	RN7SKP238_ENST00000516483.1_RNA|RP11-93H12.4_ENST00000474115.2_RNA|GRID1_ENST00000536331.1_Missense_Mutation_p.D241A	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	670					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						TTTGGACAGGTCCTGGAAAGT	0.522										Multiple Myeloma(13;0.14)																												uc001kdl.1		NA																	0				ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10						c.(2008-2010)GAC>GCC		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						201.0	186.0	191.0					10																	87407143		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87407143T>G	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2009A>C	10.37:g.87407143T>G	ENSP00000330148:p.Asp670Ala	Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.D241A|uc001kdm.1_RNA	p.D670A	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			13	2110	-			670			Extracellular (Potential).		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.2009A>C	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.450134	0.84101	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.19669	2.13;2.13	5.92	5.92	0.95590	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.042188	0.85682	D	0.000000	T	0.53786	0.1818	M	0.89163	3.01	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.62651	-0.6809	10	0.87932	D	0	.	15.5447	0.76090	0.0:0.0:0.0:1.0	.	670	Q9ULK0	GRID1_HUMAN	A	670;241	ENSP00000330148:D670A;ENSP00000444455:D241A	ENSP00000330148:D670A	D	-	2	0	GRID1	87397123	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.698000	0.84413	2.267000	0.75376	0.528000	0.53228	GAC		0.522	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		14	153	0	0	0	0	14	153				
IFIT5	24138	broad.mit.edu	37	10	91177111	91177111	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr10:91177111C>T	ENST00000371795.4	+	2	368	c.155C>T	c.(154-156)gCt>gTt	p.A52V	IFIT5_ENST00000416601.1_Missense_Mutation_p.A52V|LIPA_ENST00000371837.1_5'Flank	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	52					defense response to virus (GO:0051607)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|ruffle membrane (GO:0032587)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(4)	9						TCTAGACTTGCTCTTTATAAC	0.373																																						uc010qnh.1		NA																	0					0						c.(154-156)GCT>GTT		interferon-induced protein with							79.0	84.0	82.0					10																	91177111		2203	4300	6503	SO:0001583	missense	24138						binding	g.chr10:91177111C>T	U34605	CCDS7403.1	10q23.31	2013-01-10			ENSG00000152778	ENSG00000152778		"""Tetratricopeptide (TTC) repeat domain containing"""	13328	protein-coding gene	gene with protein product	"""retinoic acid- and interferon-inducible protein (58kD)"""					9398535	Standard	NM_012420		Approved	RI58	uc010qnh.2	Q13325	OTTHUMG00000018713	ENST00000371795.4:c.155C>T	10.37:g.91177111C>T	ENSP00000360860:p.Ala52Val					LIPA_uc001kgb.3_5'Flank|LIPA_uc001kgc.3_5'Flank|IFIT5_uc010qng.1_Missense_Mutation_p.A52V	p.A52V	NM_012420	NP_036552	Q13325	IFIT5_HUMAN			2	386	+			52			TPR 1.		B2R5X9|B4DDV1|Q5T7I9|Q6IAX3	Missense_Mutation	SNP	ENST00000371795.4	37	c.155C>T	CCDS7403.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.035883	0.35893	.	.	ENSG00000152778	ENST00000371795;ENST00000416601	T;T	0.58506	0.33;0.33	5.66	5.66	0.87406	.	0.390008	0.28521	N	0.015050	T	0.40347	0.1113	N	0.08118	0	0.21604	N	0.999624	B;B	0.21905	0.062;0.062	B;B	0.27608	0.081;0.081	T	0.33803	-0.9854	10	0.38643	T	0.18	-0.9869	14.4989	0.67707	0.0:0.739:0.261:0.0	.	52;52	Q13325;B4DDV1	IFIT5_HUMAN;.	V	52	ENSP00000360860:A52V;ENSP00000414042:A52V	ENSP00000360860:A52V	A	+	2	0	IFIT5	91167091	0.000000	0.05858	0.984000	0.44739	0.979000	0.70002	-0.190000	0.09615	2.665000	0.90641	0.655000	0.94253	GCT		0.373	IFIT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049303.1	NM_012420		8	60	0	0	0	0	8	60				
NLRP6	171389	broad.mit.edu	37	11	281335	281335	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr11:281335C>A	ENST00000312165.5	+	4	1601	c.1601C>A	c.(1600-1602)gCc>gAc	p.A534D	NLRP6_ENST00000534750.1_Missense_Mutation_p.A534D	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	534					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGTGGGGACGCCCAGCCGCAC	0.687																																						uc010qvs.1		NA																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(1600-1602)GCC>GAC		NLR family, pyrin domain containing 6							17.0	17.0	17.0					11																	281335		2193	4293	6486	SO:0001583	missense	171389					cytoplasm	ATP binding	g.chr11:281335C>A	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1601C>A	11.37:g.281335C>A	ENSP00000309767:p.Ala534Asp					NLRP6_uc010qvt.1_Missense_Mutation_p.A534D	p.A534D	NM_138329	NP_612202	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	1601	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	534					A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	c.1601C>A	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	C	7.362	0.625014	0.14257	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.75050	-0.9;-0.86	2.79	-2.2	0.06994	.	2.088600	0.02748	N	0.117077	T	0.63212	0.2492	L	0.46614	1.455	0.09310	N	1	B;B	0.14438	0.005;0.01	B;B	0.19148	0.024;0.021	T	0.26430	-1.0103	10	0.30854	T	0.27	.	1.224	0.01929	0.1716:0.4255:0.169:0.2339	.	534;534	E9PJZ8;P59044	.;NALP6_HUMAN	D	534	ENSP00000433617:A534D;ENSP00000309767:A534D	ENSP00000309767:A534D	A	+	2	0	NLRP6	271335	0.000000	0.05858	0.000000	0.03702	0.538000	0.34931	-0.947000	0.03901	-0.485000	0.06754	0.462000	0.41574	GCC		0.687	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		12	16	1	0	1.58e-08	3.06e-08	12	16				
SLC25A22	79751	broad.mit.edu	37	11	792580	792580	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr11:792580T>C	ENST00000320230.5	-	7	1041	c.560A>G	c.(559-561)tAc>tGc	p.Y187C	CEND1_ENST00000524587.1_5'Flank|SLC25A22_ENST00000531214.1_Missense_Mutation_p.Y187C|CEND1_ENST00000330106.4_5'Flank	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	187					L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAGTCCCTTGTAGAGACCGGC	0.731																																					Colon(93;848 1468 3270 23355 49636)	uc001lri.2		NA																	0					0						c.(559-561)TAC>TGC		mitochondrial glutamate carrier 1	L-Glutamic Acid(DB00142)						15.0	16.0	16.0					11																	792580		2198	4280	6478	SO:0001583	missense	79751					integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity	g.chr11:792580T>C	AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"""Solute carriers"""	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310	ENST00000320230.5:c.560A>G	11.37:g.792580T>C	ENSP00000322020:p.Tyr187Cys					CEND1_uc001lrh.1_5'Flank|SLC25A22_uc009yci.2_Missense_Mutation_p.Y187C|SLC25A22_uc001lrj.2_Missense_Mutation_p.Y187C	p.Y187C	NM_024698	NP_078974	Q9H936	GHC1_HUMAN		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	7	902	-		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	187			Solcar 2.		A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Missense_Mutation	SNP	ENST00000320230.5	37	c.560A>G	CCDS7715.1	.	.	.	.	.	.	.	.	.	.	t	18.74	3.689121	0.68271	.	.	ENSG00000177542	ENST00000320230;ENST00000531214;ENST00000481290;ENST00000531437	D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08	3.63	3.63	0.41609	Mitochondrial carrier domain (2);	0.072953	0.56097	D	0.000024	D	0.95484	0.8533	H	0.97587	4.035	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96486	0.9360	10	0.87932	D	0	-17.3142	12.71	0.57083	0.0:0.0:0.0:1.0	.	187	Q9H936	GHC1_HUMAN	C	187;187;212;183	ENSP00000322020:Y187C;ENSP00000437236:Y187C;ENSP00000431829:Y212C;ENSP00000435862:Y183C	ENSP00000322020:Y187C	Y	-	2	0	SLC25A22	782580	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	3.914000	0.56401	1.639000	0.50556	0.482000	0.46254	TAC		0.731	SLC25A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257107.2			7	19	0	0	0	0	7	19				
C11orf16	56673	broad.mit.edu	37	11	8947244	8947244	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr11:8947244C>G	ENST00000326053.5	-	5	1076	c.970G>C	c.(970-972)Gag>Cag	p.E324Q	C11orf16_ENST00000525780.1_Missense_Mutation_p.E324Q|C11orf16_ENST00000528998.1_5'Flank	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	324										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		GCTACTTTCTCCTCTTTAGGA	0.552																																						uc001mhb.3		NA																	0				upper_aerodigestive_tract(1)|pancreas(1)	2						c.(970-972)GAG>CAG		hypothetical protein LOC56673							106.0	99.0	101.0					11																	8947244		2201	4296	6497	SO:0001583	missense	56673							g.chr11:8947244C>G	AJ400877	CCDS7794.1	11p15.3	2008-06-25			ENSG00000176029	ENSG00000176029			1169	protein-coding gene	gene with protein product						11528127	Standard	NM_020643		Approved		uc001mhb.4	Q9NQ32	OTTHUMG00000165654	ENST00000326053.5:c.970G>C	11.37:g.8947244C>G	ENSP00000318999:p.Glu324Gln					C11orf16_uc001mhc.3_Missense_Mutation_p.E324Q	p.E324Q	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN		Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)	5	1094	-			324					Q53FB2|Q8N6Y9	Missense_Mutation	SNP	ENST00000326053.5	37	c.970G>C	CCDS7794.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.462431	0.26248	.	.	ENSG00000176029	ENST00000525780;ENST00000326053	T;T	0.36157	1.3;1.27	5.67	-4.31	0.03698	.	0.733363	0.13014	N	0.420641	T	0.25419	0.0618	L	0.47716	1.5	0.09310	N	1	B;B	0.24721	0.041;0.11	B;B	0.24701	0.032;0.055	T	0.23190	-1.0195	10	0.54805	T	0.06	-23.7353	6.4202	0.21740	0.0:0.3681:0.2969:0.335	.	324;324	Q9NQ32-2;Q9NQ32	.;CK016_HUMAN	Q	324	ENSP00000436818:E324Q;ENSP00000318999:E324Q	ENSP00000318999:E324Q	E	-	1	0	C11orf16	8903820	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.027000	0.12371	-0.720000	0.04935	-0.136000	0.14681	GAG		0.552	C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385626.1	NM_020643		13	55	0	0	0	0	13	55				
C11orf16	56673	broad.mit.edu	37	11	8948556	8948556	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr11:8948556C>G	ENST00000326053.5	-	4	596	c.490G>C	c.(490-492)Gag>Cag	p.E164Q	C11orf16_ENST00000525780.1_Missense_Mutation_p.E164Q|C11orf16_ENST00000528998.1_5'Flank	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	164										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		TGGCCTGGCTCCCAGAGTGCC	0.547																																						uc001mhb.3		NA																	0				upper_aerodigestive_tract(1)|pancreas(1)	2						c.(490-492)GAG>CAG		hypothetical protein LOC56673							90.0	81.0	84.0					11																	8948556		2201	4296	6497	SO:0001583	missense	56673							g.chr11:8948556C>G	AJ400877	CCDS7794.1	11p15.3	2008-06-25			ENSG00000176029	ENSG00000176029			1169	protein-coding gene	gene with protein product						11528127	Standard	NM_020643		Approved		uc001mhb.4	Q9NQ32	OTTHUMG00000165654	ENST00000326053.5:c.490G>C	11.37:g.8948556C>G	ENSP00000318999:p.Glu164Gln					C11orf16_uc001mhc.3_Missense_Mutation_p.E164Q	p.E164Q	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN		Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)	4	614	-			164					Q53FB2|Q8N6Y9	Missense_Mutation	SNP	ENST00000326053.5	37	c.490G>C	CCDS7794.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.976758	0.34848	.	.	ENSG00000176029	ENST00000525780;ENST00000326053	T;T	0.24538	1.85;1.85	5.62	4.71	0.59529	.	0.418283	0.22726	N	0.056384	T	0.34164	0.0888	M	0.66939	2.045	0.25657	N	0.986048	B;B	0.22003	0.018;0.063	B;B	0.25987	0.038;0.065	T	0.25152	-1.0140	10	0.62326	D	0.03	-19.0335	17.8595	0.88777	0.0:0.8764:0.1236:0.0	.	164;164	Q9NQ32-2;Q9NQ32	.;CK016_HUMAN	Q	164	ENSP00000436818:E164Q;ENSP00000318999:E164Q	ENSP00000318999:E164Q	E	-	1	0	C11orf16	8905132	1.000000	0.71417	0.953000	0.39169	0.010000	0.07245	2.856000	0.48341	0.739000	0.32628	-1.273000	0.01405	GAG		0.547	C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385626.1	NM_020643		9	40	0	0	0	0	9	40				
SBF2	81846	broad.mit.edu	37	11	10064472	10064472	+	Silent	SNP	A	A	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr11:10064472A>G	ENST00000256190.8	-	3	335	c.198T>C	c.(196-198)ttT>ttC	p.F66F	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	66	UDENN.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GGACAACCACAAAGAACGTTG	0.403																																						uc001mib.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(196-198)TTT>TTC		SET binding factor 2							126.0	108.0	114.0					11																	10064472		2201	4294	6495	SO:0001819	synonymous_variant	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:10064472A>G	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.198T>C	11.37:g.10064472A>G						SBF2_uc001mif.3_5'UTR|SBF2_uc001mij.2_RNA	p.F66F	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	3	336	-			66			UDENN.		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Silent	SNP	ENST00000256190.8	37	c.198T>C	CCDS31427.1																																																																																				0.403	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		23	29	0	0	0	0	23	29				
MYOD1	4654	broad.mit.edu	37	11	17741386	17741386	+	Silent	SNP	T	T	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr11:17741386T>G	ENST00000250003.3	+	1	272	c.57T>G	c.(55-57)tcT>tcG	p.S19S		NM_002478.4	NP_002469.2	P15172	MYOD1_HUMAN	myogenic differentiation 1	19					cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to oxygen levels (GO:0071453)|cellular response to starvation (GO:0009267)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|myoblast fate determination (GO:0007518)|myotube cell development (GO:0014904)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle tissue development (GO:0007519)|transcription from RNA polymerase II promoter (GO:0006366)	myofibril (GO:0030016)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|E-box binding (GO:0070888)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						CCGACGGCTCTCTCTGCTCCT	0.652																																						uc001mni.2		NA																	0				breast(2)|ovary(1)	3						c.(55-57)TCT>TCG		myogenic differentiation 1							58.0	62.0	60.0					11																	17741386		2200	4293	6493	SO:0001819	synonymous_variant	4654				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr11:17741386T>G	AF027148	CCDS7826.1	11p15	2013-05-21	2005-09-12			ENSG00000129152		"""Basic helix-loop-helix proteins"""	7611	protein-coding gene	gene with protein product	"""myoblast determination protein 1"""	159970	"""myogenic factor 3"""	MYF3			Standard	NM_002478		Approved	PUM, MYOD, bHLHc1	uc001mni.3	P15172		ENST00000250003.3:c.57T>G	11.37:g.17741386T>G							p.S19S	NM_002478	NP_002469	P15172	MYOD1_HUMAN			1	277	+			19					O75321	Silent	SNP	ENST00000250003.3	37	c.57T>G	CCDS7826.1																																																																																				0.652	MYOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389387.1	NM_002478		23	40	0	0	0	0	23	40				
DPF2	5977	broad.mit.edu	37	11	65108938	65108938	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr11:65108938C>T	ENST00000528416.1	+	4	503	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C	DPF2_ENST00000532264.1_3'UTR|DPF2_ENST00000252268.4_Missense_Mutation_p.R124C|DPF2_ENST00000415073.2_Missense_Mutation_p.R124C	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	124					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						GGCTCTGTTGCGCACTGACCC	0.567																																						uc001odm.2		NA																	0				ovary(1)	1						c.(370-372)CGC>TGC		D4, zinc and double PHD fingers family 2							96.0	83.0	88.0					11																	65108938		2201	4297	6498	SO:0001583	missense	5977				apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding	g.chr11:65108938C>T	U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"""Zinc fingers, PHD-type"""	9964	protein-coding gene	gene with protein product		601671	"""requiem, apoptosis response zinc finger gene"""	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.370C>T	11.37:g.65108938C>T	ENSP00000436901:p.Arg124Cys					DPF2_uc001odn.2_Missense_Mutation_p.R124C|DPF2_uc010roe.1_Missense_Mutation_p.R124C	p.R124C	NM_006268	NP_006259	Q92785	REQU_HUMAN			4	382	+			124					A8K7C9|B4DT58	Missense_Mutation	SNP	ENST00000528416.1	37	c.370C>T	CCDS8100.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.724110	0.68959	.	.	ENSG00000133884	ENST00000528416;ENST00000415073;ENST00000252268	D;D;D	0.90788	-2.57;-2.73;-2.57	5.31	5.31	0.75309	.	0.000000	0.38381	N	0.001709	D	0.87172	0.6111	L	0.33753	1.03	0.54753	D	0.999982	D;D	0.63880	0.993;0.988	B;P	0.44477	0.446;0.451	D	0.87798	0.2623	10	0.45353	T	0.12	-17.8033	16.4845	0.84181	0.0:1.0:0.0:0.0	.	124;124	B4DT58;Q92785	.;REQU_HUMAN	C	124	ENSP00000436901:R124C;ENSP00000399714:R124C;ENSP00000252268:R124C	ENSP00000252268:R124C	R	+	1	0	DPF2	64865514	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	2.260000	0.43267	2.507000	0.84556	0.467000	0.42956	CGC		0.567	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387293.3	NM_006268		10	40	0	0	0	0	10	40				
PPFIA1	8500	broad.mit.edu	37	11	70176348	70176348	+	Missense_Mutation	SNP	C	C	T	rs568113048		TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr11:70176348C>T	ENST00000253925.7	+	8	1215	c.1000C>T	c.(1000-1002)Cgt>Tgt	p.R334C	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.R334C	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	334					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CGCTGCACAGCGTGAAGCCAC	0.398													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17916	0.0		0.0	False		,,,				2504	0.0					uc001opo.2		NA																	0				lung(2)|ovary(1)	3						c.(1000-1002)CGT>TGT		PTPRF interacting protein alpha 1 isoform b							83.0	78.0	80.0					11																	70176348		2200	4294	6494	SO:0001583	missense	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70176348C>T	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.1000C>T	11.37:g.70176348C>T	ENSP00000253925:p.Arg334Cys					PPFIA1_uc001opn.1_Missense_Mutation_p.R334C|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA	p.R334C	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		8	1198	+			334			Potential.		A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	c.1000C>T	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982374	0.74474	.	.	ENSG00000131626	ENST00000253925;ENST00000389547	T;T	0.79653	-1.29;-1.29	5.2	4.29	0.51040	.	0.000000	0.85682	D	0.000000	D	0.90438	0.7006	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.931;0.995	D	0.91872	0.5508	10	0.87932	D	0	.	13.3733	0.60725	0.0:0.9244:0.0:0.0756	.	334;334	Q13136;Q13136-2	LIPA1_HUMAN;.	C	334	ENSP00000253925:R334C;ENSP00000374198:R334C	ENSP00000253925:R334C	R	+	1	0	PPFIA1	69853996	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.136000	0.50554	1.189000	0.43028	0.655000	0.94253	CGT		0.398	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		23	42	0	0	0	0	23	42				
KMT2A	4297	broad.mit.edu	37	11	118392789	118392789	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr11:118392789G>A	ENST00000389506.5	+	36	11812	c.11812G>A	c.(11812-11814)Gag>Aag	p.E3938K	RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000556583.1_RNA|KMT2A_ENST00000534358.1_Missense_Mutation_p.E3941K|RP11-770J1.3_ENST00000528578.1_RNA|RP11-770J1.3_ENST00000532597.1_RNA|KMT2A_ENST00000354520.4_Missense_Mutation_p.E3900K			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3938	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CTACCGAGGAGAGGAACTCAC	0.478																																						uc001pta.2		NA								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		0				lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(11812-11814)GAG>AAG		myeloid/lymphoid or mixed-lineage leukemia							175.0	140.0	152.0					11																	118392789		2200	4295	6495	SO:0001583	missense	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118392789G>A	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.11812G>A	11.37:g.118392789G>A	ENSP00000374157:p.Glu3938Lys					MLL_uc001ptb.2_Missense_Mutation_p.E3941K|MLL_uc001ptf.2_5'Flank	p.E3938K	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	36	11835	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	3938			SET.		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.11812G>A	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459576	0.84317	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.87334	-2.24;-2.24;-2.24	5.5	5.5	0.81552	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.95953	0.8682	H	0.95982	3.75	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.995	D	0.96704	0.9520	10	0.87932	D	0	.	19.5916	0.95514	0.0:0.0:1.0:0.0	.	3941;3938	E9PQG7;Q03164	.;MLL1_HUMAN	K	3941;3938;3900;2848	ENSP00000436786:E3941K;ENSP00000374157:E3938K;ENSP00000346516:E3900K	ENSP00000346516:E3900K	E	+	1	0	MLL	117897999	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.657000	0.98554	2.861000	0.98227	0.655000	0.94253	GAG		0.478	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		12	70	0	0	0	0	12	70				
SRPR	6734	broad.mit.edu	37	11	126136385	126136385	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr11:126136385C>T	ENST00000332118.6	-	6	980	c.826G>A	c.(826-828)Gag>Aag	p.E276K	SRPR_ENST00000530680.1_5'Flank|FOXRED1_ENST00000263578.5_5'Flank|FOXRED1_ENST00000532125.1_5'Flank|FOXRED1_ENST00000442061.2_5'Flank|SRPR_ENST00000532259.1_Missense_Mutation_p.E248K	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	276					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		TTGATGTCCTCAGACAAGGCA	0.488																																						uc001qdh.2		NA																	0					0						c.(826-828)GAG>AAG		signal recognition particle receptor							98.0	100.0	99.0					11																	126136385		2201	4299	6500	SO:0001583	missense	6734				SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	g.chr11:126136385C>T	BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"""signal recognition particle receptor ('docking protein')"""			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.826G>A	11.37:g.126136385C>T	ENSP00000328023:p.Glu276Lys					SRPR_uc010sbm.1_Missense_Mutation_p.E248K|FOXRED1_uc001qdi.2_5'Flank|FOXRED1_uc010sbn.1_5'Flank|FOXRED1_uc010sbo.1_5'Flank|FOXRED1_uc010sbp.1_5'Flank|FOXRED1_uc010sbq.1_5'Flank|FOXRED1_uc001qdj.2_5'Flank|FOXRED1_uc010sbr.1_5'Flank	p.E276K	NM_003139	NP_003130	P08240	SRPR_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)	6	877	-	all_hematologic(175;0.145)		276					A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Missense_Mutation	SNP	ENST00000332118.6	37	c.826G>A	CCDS31717.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.941333	0.53079	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	5.55	5.55	0.83447	Signal recognition particle receptor, alpha subunit, N-terminal (1);	0.249672	0.46145	D	0.000304	T	0.58708	0.2141	L	0.50333	1.59	0.58432	D	0.999999	B;B	0.15141	0.012;0.004	B;B	0.22152	0.038;0.029	T	0.51332	-0.8719	9	0.22109	T	0.4	-29.8219	17.8672	0.88799	0.0:1.0:0.0:0.0	.	248;276	E9PJS4;P08240	.;SRPR_HUMAN	K	276;248	.	ENSP00000328023:E276K	E	-	1	0	SRPR	125641595	0.990000	0.36364	1.000000	0.80357	0.996000	0.88848	2.917000	0.48821	2.894000	0.99253	0.655000	0.94253	GAG		0.488	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	NM_003139		15	71	0	0	0	0	15	71				
CD163	9332	broad.mit.edu	37	12	7636160	7636160	+	Missense_Mutation	SNP	T	T	G	rs141756075		TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr12:7636160T>G	ENST00000359156.4	-	12	3093	c.2891A>C	c.(2890-2892)cAg>cCg	p.Q964P	CD163_ENST00000539632.1_5'UTR|CD163_ENST00000396620.3_Missense_Mutation_p.Q997P|CD163_ENST00000432237.2_Missense_Mutation_p.Q964P|CD163_ENST00000541972.1_Missense_Mutation_p.Q952P	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	964	SRCR 9. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	ACACACCACCTGAGCATCGTC	0.522																																						uc001qsz.3		NA																	0				ovary(6)|pancreas(1)|skin(1)	8						c.(2890-2892)CAG>CCG		CD163 antigen isoform a							155.0	121.0	132.0					12																	7636160		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7636160T>G	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.2891A>C	12.37:g.7636160T>G	ENSP00000352071:p.Gln964Pro					CD163_uc001qta.3_Missense_Mutation_p.Q964P|CD163_uc009zfw.2_Missense_Mutation_p.Q997P	p.Q964P	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			12	3019	-			964			SRCR 9.|Extracellular (Potential).		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.2891A>C	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	T	16.07	3.018793	0.54576	.	.	ENSG00000177575	ENST00000359156;ENST00000542280;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27	5.31	5.31	0.75309	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	1.010540	0.07929	N	0.977178	T	0.50120	0.1597	M	0.88704	2.975	0.27954	N	0.937021	P;P;B	0.40875	0.545;0.731;0.413	B;B;B	0.37888	0.26;0.241;0.121	T	0.54886	-0.8226	10	0.59425	D	0.04	.	13.4993	0.61445	0.0:0.0:0.0:1.0	.	997;964;964	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	P	964;4;952;997;964	ENSP00000352071:Q964P;ENSP00000445438:Q4P;ENSP00000444071:Q952P;ENSP00000379863:Q997P;ENSP00000403885:Q964P	ENSP00000352071:Q964P	Q	-	2	0	CD163	7527427	0.109000	0.22037	0.336000	0.25522	0.925000	0.55904	2.877000	0.48506	2.148000	0.66965	0.454000	0.30748	CAG		0.522	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		10	69	0	0	0	0	10	69				
DENND5B	160518	broad.mit.edu	37	12	31552693	31552693	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr12:31552693C>T	ENST00000389082.5	-	16	3227	c.2963G>A	c.(2962-2964)gGg>gAg	p.G988E	DENND5B_ENST00000536562.1_Missense_Mutation_p.G1023E|DENND5B_ENST00000306833.6_Missense_Mutation_p.G1023E	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	988	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GGTCAGCTTCCCCAAGTTCTG	0.443																																						uc001rki.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2962-2964)GGG>GAG		DENN/MADD domain containing 5B							102.0	95.0	97.0					12																	31552693		2072	4252	6324	SO:0001583	missense	160518					integral to membrane		g.chr12:31552693C>T	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.2963G>A	12.37:g.31552693C>T	ENSP00000373734:p.Gly988Glu					DENND5B_uc001rkh.1_Missense_Mutation_p.G1023E|DENND5B_uc009zjq.1_Intron	p.G988E	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN			16	3149	-			988			PLAT.		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	c.2963G>A	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548709	0.86127	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562	T;T;T	0.76316	-1.01;-1.01;-1.01	4.31	4.31	0.51392	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	0.000000	0.85682	D	0.000000	D	0.91841	0.7418	H	0.96142	3.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94601	0.7796	10	0.87932	D	0	-15.8582	17.3352	0.87278	0.0:1.0:0.0:0.0	.	988;1023	Q6ZUT9;G3V1S3	DEN5B_HUMAN;.	E	988;1023;1023	ENSP00000373734:G988E;ENSP00000306482:G1023E;ENSP00000444889:G1023E	ENSP00000306482:G1023E	G	-	2	0	DENND5B	31443960	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.393000	0.79851	2.377000	0.81083	0.591000	0.81541	GGG		0.443	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		10	20	0	0	0	0	10	20				
TROAP	10024	broad.mit.edu	37	12	49722756	49722756	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr12:49722756A>G	ENST00000257909.3	+	9	1014	c.938A>G	c.(937-939)cAg>cGg	p.Q313R	TROAP_ENST00000551245.1_Missense_Mutation_p.Q313R|TROAP_ENST00000547923.1_Missense_Mutation_p.Q21R	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	313					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						CCTGTGGCCCAGCCCTTGCCT	0.592																																						uc001rtx.3		NA																	0				ovary(1)	1						c.(937-939)CAG>CGG		tastin isoform 1							69.0	66.0	67.0					12																	49722756		2203	4300	6503	SO:0001583	missense	10024				cell adhesion	cytoplasm		g.chr12:49722756A>G	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.938A>G	12.37:g.49722756A>G	ENSP00000257909:p.Gln313Arg					TROAP_uc009zlh.2_Missense_Mutation_p.Q313R|TROAP_uc001rty.2_Missense_Mutation_p.Q21R	p.Q313R	NM_005480	NP_005471	Q12815	TROAP_HUMAN			9	1105	+			313					F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	ENST00000257909.3	37	c.938A>G	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	A	12.24	1.879985	0.33162	.	.	ENSG00000135451	ENST00000551245;ENST00000257909;ENST00000547923	.	.	.	3.38	2.17	0.27698	.	0.467497	0.15655	U	0.251199	T	0.18841	0.0452	N	0.22421	0.69	0.09310	N	1	P;P;P	0.46784	0.884;0.884;0.549	P;B;B	0.45538	0.484;0.408;0.242	T	0.08994	-1.0695	9	0.10377	T	0.69	-0.2105	5.7145	0.17952	0.7616:0.0:0.0:0.2384	.	313;21;313	F8W130;F8W1U0;Q12815	.;.;TROAP_HUMAN	R	313;313;21	.	ENSP00000257909:Q313R	Q	+	2	0	TROAP	48009023	0.014000	0.17966	0.980000	0.43619	0.621000	0.37620	0.676000	0.25247	0.336000	0.23639	0.379000	0.24179	CAG		0.592	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		29	57	0	0	0	0	29	57				
PPFIA2	8499	broad.mit.edu	37	12	81661805	81661805	+	Silent	SNP	T	T	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr12:81661805T>C	ENST00000549396.1	-	29	3532	c.3372A>G	c.(3370-3372)gaA>gaG	p.E1124E	PPFIA2_ENST00000550584.2_Silent_p.E1124E|PPFIA2_ENST00000443686.3_Silent_p.E1019E|PPFIA2_ENST00000552948.1_Silent_p.E1103E|PPFIA2_ENST00000541570.2_Silent_p.E660E|PPFIA2_ENST00000407050.4_Silent_p.E1023E|PPFIA2_ENST00000541017.1_Silent_p.E310E|PPFIA2_ENST00000548586.1_Silent_p.E1118E|PPFIA2_ENST00000549325.1_Silent_p.E1109E|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000333447.7_Silent_p.E1112E|PPFIA2_ENST00000550359.2_Silent_p.E971E|PPFIA2_ENST00000545296.2_Intron	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1124	SAM 3. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TATTTGCATATTCTCGAAGTC	0.393																																						uc001szo.1		NA																	0				ovary(3)|lung(2)|pancreas(1)	6						c.(3370-3372)GAA>GAG		PTPRF interacting protein alpha 2							85.0	80.0	82.0					12																	81661805		1907	4156	6063	SO:0001819	synonymous_variant	8499							g.chr12:81661805T>C	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.3372A>G	12.37:g.81661805T>C						PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	p.E1124E	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			29	3533	-			1023					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Silent	SNP	ENST00000549396.1	37	c.3372A>G	CCDS55857.1																																																																																				0.393	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			4	8	0	0	0	0	4	8				
TXNRD1	7296	broad.mit.edu	37	12	104720144	104720144	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr12:104720144G>C	ENST00000529546.1	+	9	989	c.764G>C	c.(763-765)aGa>aCa	p.R255T	TXNRD1_ENST00000542918.1_Missense_Mutation_p.R343T|TXNRD1_ENST00000388854.3_Missense_Mutation_p.R345T|TXNRD1_ENST00000540716.1_Missense_Mutation_p.R255T|TXNRD1_ENST00000525566.1_Missense_Mutation_p.R443T|TXNRD1_ENST00000429002.2_Missense_Mutation_p.R443T|TXNRD1_ENST00000526691.1_Missense_Mutation_p.R345T|TXNRD1_ENST00000397736.2_Missense_Mutation_p.R337T|TXNRD1_ENST00000526390.1_Missense_Mutation_p.R337T|TXNRD1_ENST00000427956.1_Missense_Mutation_p.R408T|TXNRD1_ENST00000526950.1_Missense_Mutation_p.R362T|TXNRD1_ENST00000524698.1_Missense_Mutation_p.R293T|TXNRD1_ENST00000378070.4_Missense_Mutation_p.R392T|TXNRD1_ENST00000503506.2_Missense_Mutation_p.R293T|TXNRD1_ENST00000354940.6_Missense_Mutation_p.R293T			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	443					cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	GCAATAGGAAGAGATGCTTGC	0.289																																					Ovarian(139;555 1836 9186 9946 10884)	uc010swk.1		NA																	0					0						c.(1327-1329)AGA>ACA		thioredoxin reductase 1 isoform 3							32.0	33.0	33.0					12																	104720144		1791	4061	5852	SO:0001583	missense	7296				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr12:104720144G>C		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000529546.1:c.764G>C	12.37:g.104720144G>C	ENSP00000434919:p.Arg255Thr					TXNRD1_uc010swl.1_Missense_Mutation_p.R293T|TXNRD1_uc010swm.1_Missense_Mutation_p.R345T|TXNRD1_uc010swn.1_Missense_Mutation_p.R293T|TXNRD1_uc010swo.1_Missense_Mutation_p.R293T|TXNRD1_uc010swp.1_Missense_Mutation_p.R255T|TXNRD1_uc010swq.1_Missense_Mutation_p.R343T|TXNRD1_uc001tku.2_RNA|TXNRD1_uc009zun.2_Missense_Mutation_p.R359T	p.R443T	NM_001093771	NP_001087240	Q16881	TRXR1_HUMAN			12	1350	+			443					B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Missense_Mutation	SNP	ENST00000529546.1	37	c.1328G>C	CCDS58274.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.910830	0.92178	.	.	ENSG00000198431	ENST00000525566;ENST00000429002;ENST00000503506;ENST00000526691;ENST00000388854;ENST00000354940;ENST00000526390;ENST00000529546;ENST00000529751;ENST00000540716;ENST00000524698;ENST00000542918;ENST00000378070;ENST00000397736;ENST00000427956;ENST00000526950	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.74106	-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.81;0.83;-0.81;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29	5.93	5.93	0.95920	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.93213	0.7838	H	0.99425	4.56	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.95516	0.8590	10	0.87932	D	0	-27.8253	20.3955	0.98984	0.0:0.0:1.0:0.0	.	343;337;443;345;293;443;408	B7Z2S5;E2QRB9;B7Z904;Q16881-4;B2R5P6;Q16881;E7EW10	.;.;.;.;.;TRXR1_HUMAN;.	T	443;443;293;345;345;293;337;255;6;255;293;343;392;337;408;362	ENSP00000434516:R443T;ENSP00000412045:R443T;ENSP00000421934:R293T;ENSP00000435929:R345T;ENSP00000373506:R345T;ENSP00000347020:R293T;ENSP00000435123:R337T;ENSP00000434919:R255T;ENSP00000432273:R6T;ENSP00000442709:R255T;ENSP00000433425:R293T;ENSP00000440978:R343T;ENSP00000367310:R392T;ENSP00000380844:R337T;ENSP00000393328:R408T;ENSP00000432812:R362T	ENSP00000347020:R293T	R	+	2	0	TXNRD1	103244274	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.883000	0.92426	2.829000	0.97493	0.632000	0.83419	AGA		0.289	TXNRD1-004	PUTATIVE	basic|exp_conf|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389969.1	NM_003330		2	1	0	0	0	0	2	1				
SPPL3	121665	broad.mit.edu	37	12	121221519	121221519	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr12:121221519G>C	ENST00000353487.2	-	5	850	c.347C>G	c.(346-348)cCg>cGg	p.P116R		NM_139015.4	NP_620584.2	Q8TCT6	SPPL3_HUMAN	signal peptide peptidase like 3	117						Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTGGCACATCGGGAGGAGAAG	0.323																																						uc001tzd.2		NA																	0					0						c.(346-348)CCG>CGG		signal peptide peptidase 3							76.0	78.0	78.0					12																	121221519		2203	4300	6503	SO:0001583	missense	121665					integral to membrane	aspartic-type endopeptidase activity	g.chr12:121221519G>C		CCDS9208.1	12q24.31	2012-02-21			ENSG00000157837	ENSG00000157837			30424	protein-coding gene	gene with protein product	"""intramembrane protease 2"", ""presenilin-like protein 4"""	608240				12139484	Standard	NM_139015		Approved	IMP2, PSL4, MGC90402, MGC126674, MGC126676, DKFZP586C1324	uc001tzd.3	Q8TCT6	OTTHUMG00000169232	ENST00000353487.2:c.347C>G	12.37:g.121221519G>C	ENSP00000288680:p.Pro116Arg					SPPL3_uc009zwz.2_Missense_Mutation_p.P116R	p.P116R	NM_139015	NP_620584	Q8TCT6	PSL4_HUMAN			5	828	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		117			Helical; (Potential).		Q3MJ04|Q8TAU4|Q96DD9	Missense_Mutation	SNP	ENST00000353487.2	37	c.347C>G	CCDS9208.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.739602	0.89573	.	.	ENSG00000157837	ENST00000353487;ENST00000405631;ENST00000536996;ENST00000543608;ENST00000543854;ENST00000543181	T;T;T;T;D	0.91521	2.2;2.2;2.2;2.2;-2.86	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.95837	0.8645	M	0.83692	2.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95765	0.8804	10	0.66056	D	0.02	-16.6346	19.4301	0.94760	0.0:0.0:1.0:0.0	.	117;116	Q8TCT6;Q3MJ04	PSL4_HUMAN;.	R	116;115;79;79;30;79	ENSP00000288680:P116R;ENSP00000442484:P79R;ENSP00000437603:P79R;ENSP00000439390:P30R;ENSP00000446088:P79R	ENSP00000288680:P116R	P	-	2	0	AC069214.1	119705902	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.143000	0.94623	2.693000	0.91896	0.650000	0.86243	CCG		0.323	SPPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402980.2	NM_139015		15	13	0	0	0	0	15	13				
TMEM132D	121256	broad.mit.edu	37	12	129563188	129563188	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr12:129563188C>A	ENST00000422113.2	-	8	2332	c.2006G>T	c.(2005-2007)gGg>gTg	p.G669V	TMEM132D_ENST00000389441.4_Missense_Mutation_p.G207V	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	669					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CAGCTGCACCCCGAGGTCTGT	0.582																																						uc009zyl.1		NA																	0				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(2005-2007)GGG>GTG		transmembrane protein 132D precursor							154.0	129.0	138.0					12																	129563188		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129563188C>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2006G>T	12.37:g.129563188C>A	ENSP00000408581:p.Gly669Val					TMEM132D_uc001uia.2_Missense_Mutation_p.G207V	p.G669V	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	8	2334	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	669			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.2006G>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692690	0.68271	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.60424	0.19;0.19	5.06	4.17	0.49024	.	0.065787	0.56097	D	0.000024	T	0.73745	0.3626	M	0.83118	2.625	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.70016	0.967;0.96	T	0.74928	-0.3497	9	.	.	.	-44.6538	8.9752	0.35930	0.0:0.7723:0.1488:0.0789	.	669;207	Q14C87;Q14C87-2	T132D_HUMAN;.	V	207;669	ENSP00000374092:G207V;ENSP00000408581:G669V	.	G	-	2	0	TMEM132D	128129141	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	4.689000	0.61723	1.108000	0.41662	0.563000	0.77884	GGG		0.582	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		34	56	1	0	1.62e-16	3.27e-16	34	56				
NBEA	26960	broad.mit.edu	37	13	36229091	36229091	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr13:36229091A>T	ENST00000400445.3	+	53	8606	c.8072A>T	c.(8071-8073)tAt>tTt	p.Y2691F	NBEA_ENST00000379939.2_Missense_Mutation_p.Y2688F|NBEA_ENST00000310336.4_Missense_Mutation_p.Y2691F|NBEA_ENST00000379922.3_Missense_Mutation_p.Y269F|NBEA_ENST00000537702.1_Missense_Mutation_p.Y484F|NBEA_ENST00000540320.1_Missense_Mutation_p.Y2691F	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2691					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GATAATCGCTATATTCTTATC	0.368																																						uc001uvb.2		NA																	0				ovary(9)|large_intestine(2)	11						c.(8071-8073)TAT>TTT		neurobeachin							92.0	90.0	91.0					13																	36229091		1857	4091	5948	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:36229091A>T	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.8072A>T	13.37:g.36229091A>T	ENSP00000383295:p.Tyr2691Phe					NBEA_uc010abi.2_Missense_Mutation_p.Y1347F|NBEA_uc010tef.1_Missense_Mutation_p.Y484F|NBEA_uc001uvd.2_Missense_Mutation_p.Y269F	p.Y2691F	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	53	8278	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	2691					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.8072A>T	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	A	10.24	1.295524	0.23564	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000402346;ENST00000537702;ENST00000379922	T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54	5.65	5.65	0.86999	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.15652	0.0377	N	0.04787	-0.16	0.58432	D	0.999999	B;B;B	0.13145	0.002;0.007;0.003	B;B;B	0.15870	0.014;0.008;0.005	T	0.10337	-1.0634	10	0.07813	T	0.8	.	15.8787	0.79185	1.0:0.0:0.0:0.0	.	2691;269;2688	Q8NFP9;Q8NFP9-2;Q5T321	NBEA_HUMAN;.;.	F	2691;2691;2688;2691;1318;269;484;269	ENSP00000440951:Y2691F;ENSP00000383295:Y2691F;ENSP00000369271:Y2688F;ENSP00000308534:Y2691F;ENSP00000440233:Y484F;ENSP00000369254:Y269F	ENSP00000308534:Y2691F	Y	+	2	0	NBEA	35127091	1.000000	0.71417	0.998000	0.56505	0.785000	0.44390	9.175000	0.94831	2.139000	0.66308	0.533000	0.62120	TAT		0.368	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		13	21	0	0	0	0	13	21				
SLITRK5	26050	broad.mit.edu	37	13	88330022	88330023	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr13:88330022_88330023GC>AA	ENST00000325089.6	+	2	2598_2599	c.2379_2380GC>AA	c.(2377-2382)caGCag>caAAag	p.Q794K	SLITRK5_ENST00000400028.3_Missense_Mutation_p.Q553K	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	794					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACCACCTgcagcagcagcagca	0.658																																						uc001vln.2		NA																	0				ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(2377-2382)CAGCAG>CAAAAG		SLIT and NTRK-like family, member 5 precursor																																				SO:0001583	missense	26050					integral to membrane		g.chr13:88330022_88330023GC>AA	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	Exception_encountered	13.37:g.88330022_88330023delinsAA	ENSP00000366283:p.Gln794Lys					SLITRK5_uc010tic.1_Missense_Mutation_p.Q553K	p.Q794K	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	2598_2599	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		794			Cytoplasmic (Potential).		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	DNP	ENST00000325089.6	37	c.2379_2380GC>AA	CCDS9465.1																																																																																				0.658	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			12	18	0	0	0	0	12	18				
FARP1	10160	broad.mit.edu	37	13	99043103	99043103	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr13:99043103G>C	ENST00000319562.6	+	11	1322	c.1057G>C	c.(1057-1059)Gaa>Caa	p.E353Q	FARP1_ENST00000595437.1_Missense_Mutation_p.E353Q|FARP1_ENST00000376586.2_Missense_Mutation_p.E353Q	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	353					dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CTATGTTAAAGAAGGAGGACA	0.453																																						uc001vnj.2		NA																	0				breast(2)	2						c.(1057-1059)GAA>CAA		FERM, RhoGEF, and pleckstrin domain protein 1							158.0	145.0	149.0					13																	99043103		2203	4300	6503	SO:0001583	missense	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99043103G>C	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.1057G>C	13.37:g.99043103G>C	ENSP00000322926:p.Glu353Gln					FARP1_uc001vnh.2_Missense_Mutation_p.E353Q	p.E353Q	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		11	1393	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		353					Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	c.1057G>C	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	G	35	5.459871	0.96240	.	.	ENSG00000152767	ENST00000376586;ENST00000376584;ENST00000319562	D;D	0.86230	-2.09;-2.09	5.66	5.66	0.87406	FERM adjacent (FA) (1);	0.048944	0.85682	D	0.000000	D	0.90923	0.7147	L	0.45352	1.415	0.80722	D	1	D;D	0.89917	1.0;0.987	D;P	0.77004	0.989;0.827	D	0.87913	0.2698	10	0.23891	T	0.37	.	19.7365	0.96208	0.0:0.0:1.0:0.0	.	353;353	Q9Y4F1;C9JME2	FARP1_HUMAN;.	Q	353;58;353	ENSP00000365771:E353Q;ENSP00000322926:E353Q	ENSP00000322926:E353Q	E	+	1	0	FARP1	97841104	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	9.837000	0.99465	2.672000	0.90937	0.655000	0.94253	GAA		0.453	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		20	71	0	0	0	0	20	71				
ZIC5	85416	broad.mit.edu	37	13	100622499	100622499	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr13:100622499C>G	ENST00000267294.4	-	1	1664	c.1431G>C	c.(1429-1431)aaG>aaC	p.K477N		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	477					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGTTGATGAGCTTGTATTTGG	0.642																																						uc001vom.1		NA																	0					0						c.(1429-1431)AAG>AAC		zinc finger protein of the cerebellum 5							146.0	133.0	137.0					13																	100622499		2203	4300	6503	SO:0001583	missense	85416				cell differentiation	nucleus	DNA binding|zinc ion binding	g.chr13:100622499C>G	AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"""Zinc fingers, C2H2-type"""	20322	protein-coding gene	gene with protein product			"""Zic family member 5 (odd-paired homolog, Drosophila)"""				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1431G>C	13.37:g.100622499C>G	ENSP00000267294:p.Lys477Asn						p.K477N	NM_033132	NP_149123	Q96T25	ZIC5_HUMAN			1	1680	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		477			C2H2-type 1; atypical.		Q5VYB0	Missense_Mutation	SNP	ENST00000267294.4	37	c.1431G>C	CCDS9494.2	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430926	0.62844	.	.	ENSG00000139800	ENST00000397451;ENST00000267294	T	0.36520	1.25	4.44	3.59	0.41128	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37571	0.1008	N	0.12663	0.25	0.58432	D	0.999993	D	0.76494	0.999	D	0.87578	0.998	T	0.30475	-0.9977	9	0.72032	D	0.01	.	7.8728	0.29576	0.0:0.803:0.0:0.197	.	477	Q96T25	ZIC5_HUMAN	N	115;477	ENSP00000267294:K477N	ENSP00000267294:K477N	K	-	3	2	ZIC5	99420500	0.998000	0.40836	1.000000	0.80357	0.982000	0.71751	0.439000	0.21575	0.820000	0.34516	0.313000	0.20887	AAG		0.642	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3	NM_033132		5	113	0	0	0	0	5	113				
MCF2L	23263	broad.mit.edu	37	13	113678963	113678963	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr13:113678963C>T	ENST00000375608.3	+	4	317	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W	MCF2L_ENST00000442652.2_Missense_Mutation_p.R87W|MCF2L_ENST00000375601.3_Missense_Mutation_p.R61W|MCF2L_ENST00000375597.4_Missense_Mutation_p.R55W|MCF2L_ENST00000421756.1_Missense_Mutation_p.R61W|MCF2L_ENST00000397030.1_Missense_Mutation_p.R90W|MCF2L_ENST00000423482.2_Missense_Mutation_p.R55W|MCF2L_ENST00000397024.1_Missense_Mutation_p.R55W|MCF2L_ENST00000375604.2_Missense_Mutation_p.R114W|MCF2L_ENST00000535094.2_Missense_Mutation_p.R57W|MCF2L_ENST00000434480.2_Missense_Mutation_p.R63W			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	87	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CCCAGGTGGGCGGGGGCAGGA	0.612																																						uc001vsu.2		NA																	0				ovary(1)|kidney(1)	2						c.(340-342)CGG>TGG		MCF.2 cell line derived transforming							52.0	53.0	53.0					13																	113678963		2203	4300	6503	SO:0001583	missense	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113678963C>T	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.259C>T	13.37:g.113678963C>T	ENSP00000364758:p.Arg87Trp					MCF2L_uc001vsq.2_Missense_Mutation_p.R114W|MCF2L_uc010tjr.1_Missense_Mutation_p.R57W|MCF2L_uc001vsr.2_Missense_Mutation_p.R61W|MCF2L_uc001vss.3_Missense_Mutation_p.R55W|MCF2L_uc010tjs.1_Missense_Mutation_p.R55W	p.R114W	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN			3	362	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	87			CRAL-TRIO.		A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37	c.340C>T		.	.	.	.	.	.	.	.	.	.	C	19.03	3.748753	0.69533	.	.	ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000430480;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000433807;ENST00000434480;ENST00000409954;ENST00000423482;ENST00000375597;ENST00000397024	T;T;T;T;T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	4.16	4.16	0.48862	Cellular retinaldehyde-binding/triple function, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.82591	0.5070	M	0.89095	3.005	0.46131	D	0.998887	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.85425	0.1145	10	0.87932	D	0	.	10.9396	0.47266	0.1877:0.8123:0.0:0.0	.	55;57;114;55;87	E9PDN8;O15068-9;G5E9A1;O15068-4;O15068	.;.;.;.;MCF2L_HUMAN	W	87;87;114;90;57;57;61;61;63;63;28;55;55;55	ENSP00000364758:R87W;ENSP00000401422:R87W;ENSP00000364754:R114W;ENSP00000380225:R90W;ENSP00000440374:R57W;ENSP00000397285:R61W;ENSP00000364751:R61W;ENSP00000407722:R63W;ENSP00000386551:R28W;ENSP00000405639:R55W;ENSP00000364747:R55W	ENSP00000364747:R55W	R	+	1	2	MCF2L	112726964	0.262000	0.24073	1.000000	0.80357	0.868000	0.49771	0.204000	0.17335	2.037000	0.60232	0.462000	0.41574	CGG		0.612	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			7	77	0	0	0	0	7	77				
TPPP2	122664	broad.mit.edu	37	14	21499312	21499312	+	Silent	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr14:21499312C>A	ENST00000321760.6	+	3	463	c.315C>A	c.(313-315)acC>acA	p.T105T	AL161668.5_ENST00000533984.1_lincRNA|TPPP2_ENST00000460647.2_Silent_p.T105T|TPPP2_ENST00000530140.2_Silent_p.T105T|RP11-998D10.1_ENST00000531638.1_5'Flank|NDRG2_ENST00000403829.3_Intron	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	105						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ACCCAGCCACCACTGGCGCTA	0.537																																						uc001vzh.2		NA																	0					0						c.(313-315)ACC>ACA		tubulin polymerization-promoting protein family							91.0	88.0	89.0					14																	21499312		2203	4300	6503	SO:0001819	synonymous_variant	122664					cytoplasm		g.chr14:21499312C>A	AY072034	CCDS9566.1	14q11.2	2014-01-21	2007-05-02	2007-05-02	ENSG00000179636	ENSG00000179636			19293	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 8"""	C14orf8		15590652, 17105200	Standard	NM_173846		Approved	p25beta, p18, CT152	uc001vzh.3	P59282	OTTHUMG00000029642	ENST00000321760.6:c.315C>A	14.37:g.21499312C>A						NDRG2_uc010tll.1_Intron	p.T105T	NM_173846	NP_776245	P59282	TPPP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)	3	503	+	all_cancers(95;0.000759)		105					Q2VYF3	Silent	SNP	ENST00000321760.6	37	c.315C>A	CCDS9566.1	.	.	.	.	.	.	.	.	.	.	C	7.861	0.726166	0.15439	.	.	ENSG00000179636	ENST00000555751	.	.	.	4.84	-1.42	0.08913	.	.	.	.	.	T	0.40222	0.1108	.	.	.	0.43259	D	0.995198	.	.	.	.	.	.	T	0.27054	-1.0085	4	.	.	.	-11.4788	1.9024	0.03270	0.1314:0.4206:0.1284:0.3197	.	.	.	.	Q	44	.	.	P	+	2	0	TPPP2	20569152	0.075000	0.21258	0.826000	0.32828	0.867000	0.49689	0.208000	0.17415	-0.152000	0.11156	0.655000	0.94253	CCA		0.537	TPPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073914.3	NM_173846		11	47	1	0	3.07e-06	5.77e-06	11	47				
SLC7A7	9056	broad.mit.edu	37	14	23243254	23243254	+	Silent	SNP	A	A	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr14:23243254A>G	ENST00000397532.3	-	9	1842	c.1317T>C	c.(1315-1317)gaT>gaC	p.D439D	SLC7A7_ENST00000397528.4_Silent_p.D439D|SLC7A7_ENST00000554517.1_Silent_p.D173D|SLC7A7_ENST00000397529.2_Silent_p.D439D|SLC7A7_ENST00000285850.7_Silent_p.D439D|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000555702.1_Silent_p.D439D			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	439					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		AGTTGATAGTATCACTGTAAA	0.507																																						uc001wgr.3		NA																	0				ovary(1)|breast(1)	2						c.(1315-1317)GAT>GAC		solute carrier family 7 member 7							137.0	133.0	135.0					14																	23243254		2203	4300	6503	SO:0001819	synonymous_variant	9056				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity	g.chr14:23243254A>G	AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"""Solute carriers"""	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.1317T>C	14.37:g.23243254A>G						SLC7A7_uc001wgs.3_Silent_p.D439D|SLC7A7_uc001wgt.3_Silent_p.D439D|SLC7A7_uc001wgu.3_Silent_p.D439D|SLC7A7_uc001wgv.3_Silent_p.D439D	p.D439D	NM_003982	NP_003973	Q9UM01	YLAT1_HUMAN		GBM - Glioblastoma multiforme(265;0.00741)	9	1455	-	all_cancers(95;8.44e-05)		439					B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Silent	SNP	ENST00000397532.3	37	c.1317T>C	CCDS9574.1	.	.	.	.	.	.	.	.	.	.	A	10.64	1.405997	0.25378	.	.	ENSG00000155465	ENST00000556350	.	.	.	6.13	-4.42	0.03579	.	.	.	.	.	T	0.63546	0.2520	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63800	-0.6555	4	.	.	.	.	15.0505	0.71865	0.4389:0.0:0.5611:0.0	.	.	.	.	T	104	.	.	I	-	2	0	SLC7A7	22313094	0.999000	0.42202	0.955000	0.39395	0.992000	0.81027	0.552000	0.23376	-0.799000	0.04439	-0.262000	0.10625	ATA		0.507	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3			34	60	0	0	0	0	34	60				
NYNRIN	57523	broad.mit.edu	37	14	24885013	24885013	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr14:24885013C>T	ENST00000382554.3	+	9	4376	c.4058C>T	c.(4057-4059)gCc>gTc	p.A1353V		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1353					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCAACCTATGCCCACCTGGCA	0.607																																						uc001wpf.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(4057-4059)GCC>GTC		hypothetical protein LOC57523							88.0	93.0	92.0					14																	24885013		1998	4155	6153	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24885013C>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.4058C>T	14.37:g.24885013C>T	ENSP00000371994:p.Ala1353Val						p.A1353V	NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN			9	4376	+			1353					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.4058C>T	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013945	0.75161	.	.	ENSG00000205978	ENST00000382554	T	0.19532	2.14	4.93	4.93	0.64822	Ribonuclease H-like (1);	.	.	.	.	T	0.32645	0.0836	N	0.24115	0.695	0.37192	D	0.903971	D	0.89917	1.0	D	0.80764	0.994	T	0.25779	-1.0122	9	0.52906	T	0.07	.	15.6876	0.77424	0.0:1.0:0.0:0.0	.	1353	Q9P2P1	NYNRI_HUMAN	V	1353	ENSP00000371994:A1353V	ENSP00000371994:A1353V	A	+	2	0	NYNRIN	23954853	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.518000	0.53451	2.551000	0.86045	0.655000	0.94253	GCC		0.607	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			16	131	0	0	0	0	16	131				
GZMB	3002	broad.mit.edu	37	14	25100420	25100420	+	Splice_Site	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr14:25100420C>G	ENST00000216341.4	-	5	707	c.601G>C	c.(601-603)Ggg>Cgg	p.G201R	RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000415355.3_Splice_Site_p.G189R|GZMB_ENST00000382542.1_Splice_Site_p.G235R|RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000382540.1_Splice_Site_p.G156R			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	201	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|intrinsic apoptotic signaling pathway (GO:0097193)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		CCAGAGTCCCCCTGTGAATAG	0.557																																						uc001wps.2		NA																	0					0						c.(601-603)GGG>CGG		granzyme B precursor							54.0	55.0	54.0					14																	25100420		2203	4300	6503	SO:0001630	splice_region_variant	3002				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity	g.chr14:25100420C>G	BC030195	CCDS9633.1	14q11.2	2008-08-13			ENSG00000100453	ENSG00000100453			4709	protein-coding gene	gene with protein product	"""fragmentin 2"", ""cytotoxic serine protease B"", ""cathepsin G-like 1"", ""T-cell serine protease 1-3E"""	123910		CTLA1, CSPB		2323780	Standard	NM_004131		Approved	CCPI, CGL-1, CSP-B, CGL1, CTSGL1, HLP, SECT	uc001wps.2	P10144	OTTHUMG00000029369	ENST00000216341.4:c.601-1G>C	14.37:g.25100420C>G						GZMB_uc010ama.2_Missense_Mutation_p.G189R|GZMB_uc010amb.2_RNA	p.G201R	NM_004131	NP_004122	P10144	GRAB_HUMAN		GBM - Glioblastoma multiforme(265;0.028)	5	667	-			201			Peptidase S1.		Q8N1D2|Q9UCC1	Missense_Mutation	SNP	ENST00000216341.4	37	c.601G>C	CCDS9633.1	.	.	.	.	.	.	.	.	.	.	c	16.59	3.165026	0.57476	.	.	ENSG00000100453	ENST00000415355;ENST00000216341;ENST00000382542;ENST00000382540;ENST00000382539	D;D;D;D	0.98044	-4.68;-4.68;-4.68;-4.68	5.15	5.15	0.70609	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.34986	N	0.003535	D	0.98934	0.9638	M	0.93594	3.435	0.40906	D	0.984196	D;D	0.69078	0.994;0.997	D;D	0.74348	0.975;0.983	D	0.99470	1.0945	10	0.62326	D	0.03	.	14.31	0.66410	0.0:1.0:0.0:0.0	.	189;201	Q6XGZ4;P10144	.;GRAB_HUMAN	R	189;201;235;156;106	ENSP00000387385:G189R;ENSP00000216341:G201R;ENSP00000371982:G235R;ENSP00000371980:G156R	ENSP00000216341:G201R	G	-	1	0	GZMB	24170260	1.000000	0.71417	0.996000	0.52242	0.371000	0.29859	5.612000	0.67681	2.836000	0.97738	0.655000	0.94253	GGG		0.557	GZMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276540.3	NM_004131	Missense_Mutation	5	68	0	0	0	0	5	68				
AREL1	9870	broad.mit.edu	37	14	75140809	75140809	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr14:75140809G>T	ENST00000356357.4	-	9	1601	c.1086C>A	c.(1084-1086)ttC>ttA	p.F362L	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	362					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CCTTCACTGAGAATTGCTGGA	0.403																																						uc001xqb.2		NA																	0				ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5						c.(1084-1086)TTC>TTA		hypothetical protein LOC9870							70.0	68.0	69.0					14																	75140809		1875	4117	5992	SO:0001583	missense	9870				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity	g.chr14:75140809G>T	AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"""KIAA0317"""	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.1086C>A	14.37:g.75140809G>T	ENSP00000348714:p.Phe362Leu					KIAA0317_uc010tut.1_Missense_Mutation_p.F201L|KIAA0317_uc001xqc.2_Missense_Mutation_p.F362L	p.F362L	NM_001039479	NP_001034568	O15033	K0317_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00404)	9	1591	-			362					B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	ENST00000356357.4	37	c.1086C>A	CCDS41971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.067|5.067	0.198047|0.198047	0.09652|0.09652	.|.	.|.	ENSG00000119682|ENSG00000119682	ENST00000356357;ENST00000543377;ENST00000556202|ENST00000490805	T;T|.	0.41400|.	1.0;1.0|.	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	0.154651|.	0.64402|.	D|.	0.000013|.	T|T	0.20981|0.20981	0.0505|0.0505	N|N	0.01297|0.01297	-0.9|-0.9	0.80722|0.80722	D|D	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.0|.	T|T	0.22103|0.22103	-1.0226|-1.0226	10|5	0.02654|.	T|.	1|.	.|.	11.4164|11.4164	0.49954|0.49954	0.0825:0.0:0.9175:0.0|0.0825:0.0:0.9175:0.0	.|.	362;362|.	O15033-2;O15033|.	.;K0317_HUMAN|.	L|Y	362;201;201|96	ENSP00000348714:F362L;ENSP00000452101:F201L|.	ENSP00000348714:F362L|.	F|S	-|-	3|2	2|0	KIAA0317|KIAA0317	74210562|74210562	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	1.303000|1.303000	0.33470|0.33470	2.673000|2.673000	0.90976|0.90976	0.585000|0.585000	0.79938|0.79938	TTC|TCT		0.403	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821		25	25	1	0	9.39e-14	1.89e-13	25	25				
ASPG	374569	broad.mit.edu	37	14	104570801	104570801	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr14:104570801C>T	ENST00000551177.1	+	8	1006	c.914C>T	c.(913-915)aCc>aTc	p.T305I	ASPG_ENST00000546892.2_Missense_Mutation_p.T305I|ASPG_ENST00000455920.2_Missense_Mutation_p.T305I	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase	305	Asparaginase.|Asparaginase/glutaminase. {ECO:0000255|PROSITE-ProRule:PRU01068}.				asparagine metabolic process (GO:0006528)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)		1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|asparaginase activity (GO:0004067)|lysophospholipase activity (GO:0004622)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						GGGGCTGTGACCACAGACTAT	0.672																																						uc001yoq.1		NA																	0					0						c.(913-915)ACC>ATC		60 kDa lysophospholipase							33.0	42.0	39.0					14																	104570801		2129	4244	6373	SO:0001583	missense	374569				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity	g.chr14:104570801C>T		CCDS45170.1, CCDS45170.2	14q32.33	2014-03-14	2014-03-14	2008-11-06	ENSG00000166183	ENSG00000166183	3.1.1.5, 3.5.1.1	"""Ankyrin repeat domain containing"""	20123	protein-coding gene	gene with protein product	"""60-kDa-lysophospholipase"""		"""chromosome 14 open reading frame 76"", ""asparaginase homolog (S. cerevisiae)"""	C14orf76			Standard	NM_001080464		Approved		uc001yoq.2	Q86U10		ENST00000551177.1:c.914C>T	14.37:g.104570801C>T	ENSP00000450040:p.Thr305Ile					ASPG_uc001yoo.1_Missense_Mutation_p.T333I|ASPG_uc001yop.1_Missense_Mutation_p.T305I|ASPG_uc001yor.1_Missense_Mutation_p.T305I	p.T305I	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN			8	974	+			305			Asparaginase.		B9EGQ2|Q8IV80	Missense_Mutation	SNP	ENST00000551177.1	37	c.914C>T	CCDS45170.2	.	.	.	.	.	.	.	.	.	.	C	8.020	0.759497	0.15846	.	.	ENSG00000166183	ENST00000551177;ENST00000299234;ENST00000546892;ENST00000455920	T;T;T	0.22539	1.95;1.95;1.95	4.1	4.1	0.47936	.	0.056508	0.64402	D	0.000002	T	0.18509	0.0444	L	0.39898	1.24	0.39320	D	0.965222	B;P;P;B	0.41232	0.265;0.629;0.743;0.302	B;B;B;B	0.37239	0.089;0.159;0.244;0.093	T	0.09207	-1.0685	10	0.72032	D	0.01	-23.7218	13.8191	0.63309	0.0:1.0:0.0:0.0	.	305;305;305;333	G3V1Y8;Q86U10;Q86U10-3;E5RFC2	.;LPP60_HUMAN;.;.	I	305;333;305;305	ENSP00000450040:T305I;ENSP00000448911:T305I;ENSP00000389003:T305I	ENSP00000299234:T333I	T	+	2	0	ASPG	103640554	0.160000	0.22878	0.653000	0.29593	0.095000	0.18619	1.921000	0.40035	1.823000	0.53134	0.462000	0.41574	ACC		0.672	ASPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407005.1	NM_001080464		8	43	0	0	0	0	8	43				
MTA1	9112	broad.mit.edu	37	14	105920571	105920571	+	Silent	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr14:105920571G>A	ENST00000331320.7	+	7	688	c.474G>A	c.(472-474)aaG>aaA	p.K158K	MTA1_ENST00000405646.1_Silent_p.K141K|MTA1_ENST00000406191.1_Silent_p.K158K	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	158	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		CACAGCAGAAGACCCTGCTGG	0.537																																						uc001yqx.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(472-474)AAG>AAA		metastasis associated protein							68.0	64.0	65.0					14																	105920571		2203	4300	6503	SO:0001819	synonymous_variant	9112				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:105920571G>A	U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"""GATA zinc finger domain containing"""	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.474G>A	14.37:g.105920571G>A						MTA1_uc001yqy.2_RNA|MTA1_uc001yqz.1_Silent_p.K72K|MTA1_uc001yra.1_Silent_p.K72K	p.K158K	NM_004689	NP_004680	Q13330	MTA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)	7	661	+		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	158			BAH.		A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Silent	SNP	ENST00000331320.7	37	c.474G>A	CCDS32169.1																																																																																				0.537	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15			10	49	0	0	0	0	10	49				
CYFIP1	23191	broad.mit.edu	37	15	22935896	22935896	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr15:22935896G>A	ENST00000313077.7	+	9	957	c.832G>A	c.(832-834)Gtc>Atc	p.V278I	CYFIP1_ENST00000560848.1_Missense_Mutation_p.V278I	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GGATGGGAGTGTCAGTAACAT	0.373																																						uc001yus.2		NA																	0				ovary(4)|pancreas(3)|liver(1)|skin(1)	9						c.(832-834)GTC>ATC		cytoplasmic FMR1 interacting protein 1 isoform							213.0	188.0	197.0					15																	22935896		2203	4300	6503	SO:0001583	missense	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22935896G>A	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.832G>A	15.37:g.22935896G>A	ENSP00000324549:p.Val278Ile					CYFIP1_uc001yut.2_Missense_Mutation_p.V278I|CYFIP1_uc010aya.1_Missense_Mutation_p.V306I	p.V278I	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	9	936	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	278						Missense_Mutation	SNP	ENST00000313077.7	37	c.832G>A	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.136498	0.56936	.	.	ENSG00000068793	ENST00000313077;ENST00000412127	T	0.42900	0.96	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000004	T	0.30696	0.0773	N	0.14661	0.345	0.80722	D	1	B;B	0.27264	0.173;0.001	B;B	0.23419	0.046;0.002	T	0.06023	-1.0850	10	0.37606	T	0.19	-30.8679	19.5328	0.95235	0.0:0.0:1.0:0.0	.	306;278	E7EQ04;Q7L576	.;CYFP1_HUMAN	I	278;306	ENSP00000324549:V278I	ENSP00000324549:V278I	V	+	1	0	CYFIP1	20487337	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.192000	0.72069	2.619000	0.88677	0.555000	0.69702	GTC		0.373	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		6	30	0	0	0	0	6	30				
HERC2	8924	broad.mit.edu	37	15	28386588	28386588	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr15:28386588G>T	ENST00000261609.7	-	78	12113	c.12005C>A	c.(12004-12006)gCt>gAt	p.A4002D		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTTCCCATCAGCCGTCACAGC	0.517																																						uc001zbj.2		NA																	0				ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(12004-12006)GCT>GAT		hect domain and RLD 2							79.0	71.0	74.0					15																	28386588		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28386588G>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.12005C>A	15.37:g.28386588G>T	ENSP00000261609:p.Ala4002Asp						p.A4002D	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	78	12111	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4002			RCC1 13.			Missense_Mutation	SNP	ENST00000261609.7	37	c.12005C>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	g	21.9	4.219596	0.79464	.	.	ENSG00000128731	ENST00000261609	T	0.80393	-1.37	5.54	5.54	0.83059	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	T	0.72495	0.3467	N	0.17674	0.51	0.80722	D	1	B	0.29253	0.239	B	0.30029	0.11	T	0.70749	-0.4787	10	0.51188	T	0.08	.	19.4772	0.94994	0.0:0.0:1.0:0.0	.	4002	O95714	HERC2_HUMAN	D	4002	ENSP00000261609:A4002D	ENSP00000261609:A4002D	A	-	2	0	HERC2	26060183	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.472000	0.97709	2.620000	0.88729	0.556000	0.70494	GCT		0.517	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		30	21	1	0	8.89e-20	1.8e-19	30	21				
NDNL2	56160	broad.mit.edu	37	15	29561491	29561491	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr15:29561491T>C	ENST00000332303.4	-	1	542	c.419A>G	c.(418-420)tAt>tGt	p.Y140C	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	140	Interaction with NSMCE1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CACCAGCTTATACCCGAAGAC	0.577																																						uc001zco.2		NA																	0					0						c.(418-420)TAT>TGT		necdin-like 2							78.0	73.0	75.0					15																	29561491		2203	4300	6503	SO:0001583	missense	56160				regulation of growth	cytoplasm|nucleus		g.chr15:29561491T>C	AF490510	CCDS10023.1	15q13.1	2008-02-01			ENSG00000185115	ENSG00000185115			7677	protein-coding gene	gene with protein product		608243				18086888	Standard	NM_138704		Approved	HCA4, MAGEG1, MAGEL3, NSE3, NSMCE3	uc001zco.3	Q96MG7	OTTHUMG00000129261	ENST00000332303.4:c.419A>G	15.37:g.29561491T>C	ENSP00000330694:p.Tyr140Cys					FAM189A1_uc010azk.1_Intron	p.Y140C	NM_138704	NP_619649	Q96MG7	MAGG1_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	527	-		all_lung(180;4.69e-11)|Breast(32;0.0013)	140			MAGE.		Q8IW16|Q8TEI6|Q9H214	Missense_Mutation	SNP	ENST00000332303.4	37	c.419A>G	CCDS10023.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.957840	0.53400	.	.	ENSG00000185115	ENST00000332303	T	0.04551	3.6	3.8	2.63	0.31362	.	0.315158	0.27294	U	0.020024	T	0.05868	0.0153	L	0.56124	1.755	0.30703	N	0.75006	B	0.24882	0.113	B	0.26094	0.066	T	0.05666	-1.0871	10	0.87932	D	0	.	6.3251	0.21239	0.2203:0.0:0.0:0.7797	.	140	Q96MG7	MAGG1_HUMAN	C	140	ENSP00000330694:Y140C	ENSP00000330694:Y140C	Y	-	2	0	NDNL2	27348783	1.000000	0.71417	0.863000	0.33907	0.979000	0.70002	3.079000	0.50104	0.758000	0.33059	0.460000	0.39030	TAT		0.577	NDNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251370.1	NM_138704		3	89	0	0	0	0	3	89				
CEP152	22995	broad.mit.edu	37	15	49054851	49054851	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr15:49054851G>C	ENST00000380950.2	-	18	2486	c.2299C>G	c.(2299-2301)Caa>Gaa	p.Q767E	CEP152_ENST00000399334.3_Missense_Mutation_p.Q767E|CEP152_ENST00000325747.5_Missense_Mutation_p.Q674E	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	767					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TCAAGCTGTTGAATGAGTTTT	0.348																																						uc001zwy.2		NA																	0				lung(2)	2						c.(2299-2301)CAA>GAA		centrosomal protein 152kDa							71.0	65.0	67.0					15																	49054851		1817	4077	5894	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49054851G>C	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.2299C>G	15.37:g.49054851G>C	ENSP00000370337:p.Gln767Glu					CEP152_uc001zwz.2_Missense_Mutation_p.Q767E|CEP152_uc001zxa.1_Missense_Mutation_p.Q674E	p.Q767E	NM_014985	NP_055800	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	18	2333	-		all_lung(180;0.0428)	767			Potential.		E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.2299C>G	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578251	0.45902	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.53423	0.62;0.65;0.64	4.93	4.93	0.64822	.	0.376195	0.27522	N	0.018992	T	0.64918	0.2642	M	0.73598	2.24	0.31898	N	0.616329	D;D;D	0.71674	0.982;0.998;0.971	P;D;P	0.64042	0.763;0.921;0.717	T	0.70583	-0.4832	10	0.49607	T	0.09	-16.505	13.3645	0.60676	0.0:0.1582:0.8417:0.0	.	674;767;767	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	E	767;674;767	ENSP00000370337:Q767E;ENSP00000321000:Q674E;ENSP00000382271:Q767E	ENSP00000321000:Q674E	Q	-	1	0	CEP152	46842143	0.880000	0.30214	0.968000	0.41197	0.990000	0.78478	3.769000	0.55303	2.716000	0.92895	0.655000	0.94253	CAA		0.348	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		39	31	0	0	0	0	39	31				
RPS27L	51065	broad.mit.edu	37	15	63447855	63447855	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr15:63447855C>T	ENST00000455271.1	-	3	679	c.95G>A	c.(94-96)tGc>tAc	p.C32Y	RPS27L_ENST00000559763.1_5'UTR|RPS27L_ENST00000439025.1_Missense_Mutation_p.C64Y|RPS27L_ENST00000411926.1_Missense_Mutation_p.C32Y|RPS27L_ENST00000462430.1_Missense_Mutation_p.C80Y|RPS27L_ENST00000330964.5_Missense_Mutation_p.C64Y					ribosomal protein S27-like											large_intestine(1)	1						TGTAGGCTGGCACAACACTGT	0.413																																						uc002aly.2		NA																	0					0						c.(190-192)TGC>TAC		ribosomal protein S27-like							112.0	106.0	108.0					15																	63447855		1906	4129	6035	SO:0001583	missense	51065				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of anti-apoptosis|translation	nucleus|ribosome	caspase activator activity|metal ion binding|structural constituent of ribosome|translation activator activity	g.chr15:63447855C>T	BC003667	CCDS42048.1	15q21.3	2008-07-18			ENSG00000185088	ENSG00000185088		"""S ribosomal proteins"""	18476	protein-coding gene	gene with protein product		612055				11042152	Standard	NM_015920		Approved		uc002aly.3	Q71UM5	OTTHUMG00000155301	ENST00000455271.1:c.95G>A	15.37:g.63447855C>T	ENSP00000412026:p.Cys32Tyr					RPS27L_uc002alx.2_RNA	p.C64Y	NM_015920	NP_057004	Q71UM5	RS27L_HUMAN			3	328	-			64						Missense_Mutation	SNP	ENST00000455271.1	37	c.191G>A		.	.	.	.	.	.	.	.	.	.	C	28.5	4.923248	0.92319	.	.	ENSG00000185088	ENST00000330964;ENST00000455271;ENST00000411926;ENST00000439025	.	.	.	5.64	5.64	0.86602	Ribosomal protein, zinc-binding domain (1);Ribosomal protein S27e, zinc-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.83161	0.5194	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.85005	0.0902	8	0.87932	D	0	.	18.2761	0.90084	0.0:1.0:0.0:0.0	.	64	Q71UM5	RS27L_HUMAN	Y	64;32;32;64	.	ENSP00000331019:C64Y	C	-	2	0	RPS27L	61234908	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.455000	0.80726	2.664000	0.90586	0.650000	0.86243	TGC		0.413	RPS27L-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000339349.2	NM_015920		5	66	0	0	0	0	5	66				
WHAMM	123720	broad.mit.edu	37	15	83478538	83478538	+	Silent	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr15:83478538C>T	ENST00000286760.4	+	1	159	c.60C>T	c.(58-60)ttC>ttT	p.F20F		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	20	Mediates association with membranes. {ECO:0000269|PubMed:18614018}.				actin filament organization (GO:0007015)|actin filament reorganization (GO:0090527)|ER to Golgi vesicle-mediated transport (GO:0006888)|focal adhesion assembly (GO:0048041)|lamellipodium assembly (GO:0030032)|membrane tubulation (GO:0097320)|positive regulation of actin nucleation (GO:0051127)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|Golgi membrane (GO:0000139)	Arp2/3 complex binding (GO:0071933)|GTP-Rho binding (GO:0017049)|microtubule binding (GO:0008017)			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						AGGGCCTCTTCGCCGAGCCCG	0.731																																						uc002bje.2		NA																	0					0						c.(58-60)TTC>TTT		WAS protein homolog associated with actin, golgi							9.0	10.0	10.0					15																	83478538		1609	3630	5239	SO:0001819	synonymous_variant	123720					cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	actin binding	g.chr15:83478538C>T	AK126887	CCDS45333.1	15q25.2	2009-02-18	2009-02-18	2009-02-18	ENSG00000156232	ENSG00000156232			30493	protein-coding gene	gene with protein product		612393	"""WAS protein homology region 2 domain containing 1"""	WHDC1		11853319, 18226259, 18614018, 18812086	Standard	XM_005272422		Approved	KIAA1971	uc002bje.3	Q8TF30		ENST00000286760.4:c.60C>T	15.37:g.83478538C>T							p.F20F	NM_001080435	NP_001073904	Q8TF30	WHAMM_HUMAN			1	566	+			20					Q8N1J9	Silent	SNP	ENST00000286760.4	37	c.60C>T	CCDS45333.1																																																																																				0.731	WHAMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418463.1			12	20	0	0	0	0	12	20				
SLC28A1	9154	broad.mit.edu	37	15	85487997	85487997	+	Silent	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr15:85487997C>T	ENST00000286749.3	+	17	1863	c.1773C>T	c.(1771-1773)taC>taT	p.Y591Y	SLC28A1_ENST00000538177.1_Silent_p.Y425Y|SLC28A1_ENST00000394573.1_Silent_p.Y591Y|SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000537624.1_Silent_p.Y591Y			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	591					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	GGATCCTCTACATGCCCAGGG	0.597																																						uc002blg.2		NA																	0				skin(2)|ovary(1)	3						c.(1771-1773)TAC>TAT		solute carrier family 28, member 1 isoform 1							83.0	82.0	82.0					15																	85487997		2203	4299	6502	SO:0001819	synonymous_variant	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85487997C>T	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1773C>T	15.37:g.85487997C>T						SLC28A1_uc010bnb.2_Silent_p.Y591Y|SLC28A1_uc010upe.1_Silent_p.Y425Y|SLC28A1_uc010upf.1_Silent_p.Y591Y|SLC28A1_uc010upg.1_Intron	p.Y591Y	NM_004213	NP_004204	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		18	1975	+			591			Helical; (Potential).		A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Silent	SNP	ENST00000286749.3	37	c.1773C>T	CCDS10334.1																																																																																				0.597	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			49	42	0	0	0	0	49	42				
HBA2	3040	broad.mit.edu	37	16	223537	223537	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr16:223537C>T	ENST00000251595.6	+	3	433	c.367C>T	c.(367-369)Cac>Tac	p.H123Y	HBA2_ENST00000397806.1_Missense_Mutation_p.H91Y	NM_000517.4	NP_000508.1	P69905	HBA_HUMAN	hemoglobin, alpha 2	123			H -> Q (in Westmead). {ECO:0000269|PubMed:1686260}.		bicarbonate transport (GO:0015701)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of cell death (GO:0010942)|protein heterooligomerization (GO:0051291)|response to hydrogen peroxide (GO:0042542)|small molecule metabolic process (GO:0044281)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)|hemoglobin complex (GO:0005833)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)						all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)			Iron Dextran(DB00893)|Mefloquine(DB00358)	CCCTGCGGTGCACGCCTCCCT	0.662											OREG0003686	type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									GBM(107;1340 2104 14383 27419)	uc002cfv.3		NA																	0					0						c.(367-369)CAC>TAC		alpha 2 globin	Amodiaquine(DB00613)|Chloroquine(DB00608)|Iron Dextran(DB00893)|Mefloquine(DB00358)|Primaquine(DB01087)|Quinine(DB00468)						33.0	40.0	37.0					16																	223537		2150	4277	6427	SO:0001583	missense	3040				hydrogen peroxide catabolic process|positive regulation of cell death|protein heterooligomerization	cytosolic small ribosomal subunit|haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding	g.chr16:223537C>T	BC008572	CCDS10398.1	16p13.3	2014-05-19			ENSG00000188536	ENSG00000188536			4824	protein-coding gene	gene with protein product		141850				6452630, 2649166	Standard	NM_000517		Approved	HBA-T2	uc002cfv.4	P69905	OTTHUMG00000059924	ENST00000251595.6:c.367C>T	16.37:g.223537C>T	ENSP00000251595:p.His123Tyr		OREG0003686	type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	586	HBA2_uc002cfw.2_Intron	p.H123Y	NM_000517	NP_000508	P69905	HBA_HUMAN			3	433	+		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)	123		H -> Q (in Westmead).			P01922|Q1HDT5|Q3MIF5|Q53F97|Q96KF1|Q9NYR7|Q9UCM0	Missense_Mutation	SNP	ENST00000251595.6	37	c.367C>T	CCDS10398.1	.	.	.	.	.	.	.	.	.	.	c	18.31	3.596758	0.66332	.	.	ENSG00000188536	ENST00000251595;ENST00000534957;ENST00000397806	D;D	0.94092	-3.17;-3.35	4.24	4.24	0.50183	Globin-like (1);Globin, structural domain (1);	0.000000	0.85682	D	0.000000	D	0.96821	0.8962	M	0.93808	3.46	0.80722	D	1	D	0.63046	0.992	P	0.61328	0.887	D	0.97379	0.9981	10	0.87932	D	0	-20.9852	11.7008	0.51569	0.0:0.821:0.179:0.0	rs36002965	123	P69905	HBA_HUMAN	Y	123;91;91	ENSP00000251595:H123Y;ENSP00000380908:H91Y	ENSP00000251595:H123Y	H	+	1	0	HBA2	163537	1.000000	0.71417	0.032000	0.17829	0.699000	0.40488	7.048000	0.76606	1.919000	0.55581	0.553000	0.69018	CAC		0.662	HBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133194.1	NM_000517		5	23	0	0	0	0	5	23				
CORO7	79585	broad.mit.edu	37	16	4408429	4408429	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr16:4408429C>T	ENST00000251166.4	-	24	2541	c.2396G>A	c.(2395-2397)cGg>cAg	p.R799Q	PAM16_ENST00000576217.1_5'Flank|CORO7_ENST00000539968.1_Missense_Mutation_p.R579Q|CORO7_ENST00000574025.1_Missense_Mutation_p.R714Q|CORO7_ENST00000537233.2_Missense_Mutation_p.R781Q|CORO7-PAM16_ENST00000572274.1_5'UTR|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.R799Q	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	799					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CCGCAGGCACCGCATCAGCTC	0.697																																						uc002cwh.3		NA																	0					0						c.(2395-2397)CGG>CAG		coronin 7							34.0	36.0	35.0					16																	4408429		2193	4297	6490	SO:0001583	missense	79585					cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction		g.chr16:4408429C>T	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.2396G>A	16.37:g.4408429C>T	ENSP00000251166:p.Arg799Gln					CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Missense_Mutation_p.R799Q|CORO7_uc002cwg.3_Missense_Mutation_p.R579Q|CORO7_uc010uxh.1_Missense_Mutation_p.R781Q|CORO7_uc010uxi.1_Missense_Mutation_p.R714Q|CORO7_uc002cwi.1_Missense_Mutation_p.R579Q	p.R799Q	NM_024535	NP_078811	P57737	CORO7_HUMAN			24	2516	-			799					B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP	ENST00000251166.4	37	c.2396G>A	CCDS10513.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163567	0.78226	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968	T;T	0.42900	0.96;0.96	5.56	5.56	0.83823	Domain of unknown function DUF1900 (1);	0.567838	0.17701	N	0.164930	T	0.70988	0.3287	M	0.88906	2.99	0.80722	D	1	D;D;D;D;D	0.89917	0.969;1.0;1.0;1.0;1.0	P;D;D;D;D	0.91635	0.571;0.998;0.999;0.978;0.99	T	0.74973	-0.3481	10	0.62326	D	0.03	-8.5616	16.4364	0.83877	0.0:1.0:0.0:0.0	.	714;781;579;799;780	P57737-2;B4DFD6;B3KUH7;P57737;B4DKU9	.;.;.;CORO7_HUMAN;.	Q	799;714;579	ENSP00000251166:R799Q;ENSP00000446221:R579Q	ENSP00000251166:R799Q	R	-	2	0	CORO7	4348430	0.999000	0.42202	0.988000	0.46212	0.241000	0.25554	4.142000	0.58044	2.628000	0.89032	0.484000	0.47621	CGG		0.697	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535		5	33	0	0	0	0	5	33				
MYH11	4629	broad.mit.edu	37	16	15820749	15820749	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr16:15820749C>T	ENST00000300036.5	-	28	3923	c.3814G>A	c.(3814-3816)Gag>Aag	p.E1272K	MYH11_ENST00000452625.2_Missense_Mutation_p.E1279K|MYH11_ENST00000396324.3_Missense_Mutation_p.E1279K|MYH11_ENST00000576790.2_Missense_Mutation_p.E1272K|AF001548.5_ENST00000574212.1_RNA	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1272					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGGGCCCGCTCCCCATCGCTG	0.647			T	CBFB	AML																																	uc002ddy.2		NA		Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						c.(3814-3816)GAG>AAG		smooth muscle myosin heavy chain 11 isoform							80.0	88.0	85.0					16																	15820749		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15820749C>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.3814G>A	16.37:g.15820749C>T	ENSP00000300036:p.Glu1272Lys					MYH11_uc002ddv.2_Missense_Mutation_p.E1279K|MYH11_uc002ddw.2_Missense_Mutation_p.E1272K|MYH11_uc002ddx.2_Missense_Mutation_p.E1279K|MYH11_uc010bvg.2_Missense_Mutation_p.E1104K|MYH11_uc010bvh.2_5'Flank	p.E1272K	NM_002474	NP_002465	P35749	MYH11_HUMAN			28	3921	-			1272			Potential.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.3814G>A	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	32	5.118953	0.94385	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95	4.68	4.68	0.58851	Myosin tail (1);	0.065763	0.64402	D	0.000010	D	0.91205	0.7229	M	0.71581	2.175	0.80722	D	1	D;P;P;P;D	0.62365	0.976;0.854;0.854;0.854;0.991	D;P;P;P;D	0.68039	0.93;0.85;0.85;0.85;0.955	D	0.91792	0.5444	10	0.54805	T	0.06	.	16.9622	0.86275	0.0:1.0:0.0:0.0	.	1279;1272;1279;1272;1279	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	K	1272;1272;1279;1279;1279	ENSP00000300036:E1272K;ENSP00000345136:E1272K;ENSP00000379616:E1279K;ENSP00000407821:E1279K	ENSP00000300036:E1272K	E	-	1	0	MYH11	15728250	1.000000	0.71417	0.995000	0.50966	0.796000	0.44982	7.687000	0.84139	2.311000	0.77944	0.655000	0.94253	GAG		0.647	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		6	150	0	0	0	0	6	150				
C16orf62	57020	broad.mit.edu	37	16	19586419	19586419	+	Splice_Site	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr16:19586419G>A	ENST00000251143.5	+	5	420		c.e5-1		C16orf62_ENST00000438132.3_Splice_Site|C16orf62_ENST00000417362.2_Splice_Site|C16orf62_ENST00000542263.1_Splice_Site|C16orf62_ENST00000538853.1_Splice_Site			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62							integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TGTCTCTGCAGAATCTGTTTA	0.294																																						uc002dgn.1		NA																	0				ovary(1)	1						c.e5-1		hypothetical protein LOC57020							87.0	94.0	91.0					16																	19586419		2197	4298	6495	SO:0001630	splice_region_variant	57020					integral to membrane		g.chr16:19586419G>A		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.409-1G>A	16.37:g.19586419G>A						C16orf62_uc002dgo.1_Splice_Site_p.N137_splice|C16orf62_uc010vas.1_Splice_Site|C16orf62_uc002dgm.1_Splice_Site_p.N137_splice	p.N137_splice	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN			5	421	+								A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Splice_Site	SNP	ENST00000251143.5	37	c.409_splice		.	.	.	.	.	.	.	.	.	.	G	17.99	3.522068	0.64747	.	.	ENSG00000103544	ENST00000438132;ENST00000538853;ENST00000542263;ENST00000251143;ENST00000417362	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1345	0.89614	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C16orf62	19493920	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	8.074000	0.89500	2.524000	0.85096	0.557000	0.71058	.		0.294	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314	Intron	5	33	0	0	0	0	5	33				
EEF2K	29904	broad.mit.edu	37	16	22271782	22271782	+	Splice_Site	SNP	G	G	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr16:22271782G>C	ENST00000263026.5	+	11	1705		c.e11-1			NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase						insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		TCCCTGCCCAGATTGGCCAGT	0.547																																					NSCLC(195;1411 2157 20319 27471 51856)	uc002dki.2		NA																	0				large_intestine(1)	1						c.e11-1		elongation factor-2 kinase							169.0	153.0	158.0					16																	22271782		2197	4300	6497	SO:0001630	splice_region_variant	29904				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	g.chr16:22271782G>C	U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.1232-1G>C	16.37:g.22271782G>C						EEF2K_uc002dkh.2_Splice_Site	p.H411_splice	NM_013302	NP_037434	O00418	EF2K_HUMAN		GBM - Glioblastoma multiforme(48;0.0223)	11	1717	+								Q8N588	Splice_Site	SNP	ENST00000263026.5	37	c.1232_splice	CCDS10604.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671593	0.67928	.	.	ENSG00000103319	ENST00000263026	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6706	0.88216	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EEF2K	22179283	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	6.069000	0.71209	2.941000	0.99782	0.655000	0.94253	.		0.547	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2	NM_013302	Intron	5	115	0	0	0	0	5	115				
SH2B1	25970	broad.mit.edu	37	16	28877954	28877954	+	Missense_Mutation	SNP	C	C	T	rs144107554		TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr16:28877954C>T	ENST00000322610.8	+	4	978	c.539C>T	c.(538-540)tCc>tTc	p.S180F	SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000337120.5_Missense_Mutation_p.S180F|SH2B1_ENST00000359285.5_Missense_Mutation_p.S180F|SH2B1_ENST00000395532.4_Missense_Mutation_p.S180F|SH2B1_ENST00000563674.1_Intron			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	180	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation). {ECO:0000250}.|Interaction with RAC1. {ECO:0000250}.|Required for NGF signaling. {ECO:0000250}.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GACCCTCCCTCCTCCGCTGGG	0.652													C|||	1	0.000199681	0.0008	0.0	5008	,	,		12864	0.0		0.0	False		,,,				2504	0.0					uc002dri.2		NA																	0				ovary(2)	2						c.(538-540)TCC>TTC		SH2B adaptor protein 1 isoform 1		C	PHE/SER,PHE/SER,PHE/SER,PHE/SER,PHE/SER	1,4393	2.1+/-5.4	0,1,2196	61.0	59.0	60.0		539,539,539,539,539	4.5	0.7	16	dbSNP_134	60	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	SH2B1	NM_001145795.1,NM_001145796.1,NM_001145797.1,NM_001145812.1,NM_015503.2	155,155,155,155,155	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	180/757,180/672,180/684,180/672,180/672	28877954	1,12993	2197	4300	6497	SO:0001583	missense	25970				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	g.chr16:28877954C>T	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.539C>T	16.37:g.28877954C>T	ENSP00000321221:p.Ser180Phe					uc010vct.1_Intron|SH2B1_uc010vdc.1_Intron|SH2B1_uc002drj.2_Missense_Mutation_p.S180F|SH2B1_uc002drk.2_Missense_Mutation_p.S180F|SH2B1_uc002drl.2_Missense_Mutation_p.S180F|SH2B1_uc010vdd.1_Intron|SH2B1_uc010vde.1_Missense_Mutation_p.S180F|SH2B1_uc002drm.2_Missense_Mutation_p.S180F	p.S180F	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN			4	978	+			180			Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).|Required for NGF signaling (By similarity).		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	ENST00000322610.8	37	c.539C>T	CCDS53996.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.144039	0.37825	2.28E-4	0.0	ENSG00000178188	ENST00000322610;ENST00000359285;ENST00000395532;ENST00000337120	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	4.48	4.48	0.54585	.	0.199677	0.32563	N	0.005928	T	0.36386	0.0965	N	0.14661	0.345	0.42316	D	0.992237	B;P;B	0.35656	0.22;0.514;0.447	B;B;B	0.39840	0.047;0.311;0.092	T	0.44651	-0.9314	10	0.66056	D	0.02	-27.0464	14.6402	0.68717	0.0:1.0:0.0:0.0	.	180;180;180	Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;SH2B1_HUMAN	F	180	ENSP00000321221:S180F;ENSP00000352232:S180F;ENSP00000378903:S180F;ENSP00000337163:S180F	ENSP00000321221:S180F	S	+	2	0	SH2B1	28785455	0.005000	0.15991	0.739000	0.30968	0.115000	0.19883	1.648000	0.37271	2.055000	0.61198	0.455000	0.32223	TCC		0.652	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503		19	46	0	0	0	0	19	46				
CES1	1066	broad.mit.edu	37	16	55862770	55862770	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr16:55862770C>A	ENST00000361503.4	-	2	296	c.166G>T	c.(166-168)Gcc>Tcc	p.A56S	CES1_ENST00000566555.1_5'Flank|CES1_ENST00000422046.2_Missense_Mutation_p.A56S|CES1_ENST00000360526.3_Missense_Mutation_p.A57S			P23141	EST1_HUMAN	carboxylesterase 1	56				A -> G (in Ref. 2; AAA16036/AAA35711). {ECO:0000305}.	epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	GGCGGCTTGGCAAAAGGGATT	0.557																																					NSCLC(162;1801 2756 42904 52896)	uc002eim.2		NA																	0					0						c.(166-168)GCC>TCC		carboxylesterase 1 isoform b precursor	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)						95.0	86.0	89.0					16																	55862770		2198	4300	6498	SO:0001583	missense	1066				response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55862770C>A	BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"""Carboxylesterases"""	1863	protein-coding gene	gene with protein product	"""human monocyte/macrophage serine esterase 1"""	114835	"""carboxylesterase 1 (monocyte/macrophage serine esterase 1)"""			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.166G>T	16.37:g.55862770C>A	ENSP00000355193:p.Ala56Ser					CES1_uc002eil.2_Missense_Mutation_p.A57S|CES1_uc002ein.2_Missense_Mutation_p.A56S	p.A56S	NM_001025194	NP_001020365	P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	2	274	-			56	A -> G (in Ref. 2; AAA16036/AAA35711).				A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	ENST00000361503.4	37	c.166G>T	CCDS45488.1	.	.	.	.	.	.	.	.	.	.	.	17.38	3.375335	0.61735	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046	T;T;T	0.39229	1.24;1.24;1.09	4.48	4.48	0.54585	Carboxylesterase, type B (1);	0.000000	0.47852	D	0.000201	T	0.76198	0.3954	H	0.97440	4.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.85460	0.1166	10	0.87932	D	0	.	14.6933	0.69101	0.0:1.0:0.0:0.0	.	56;56;57	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	S	57;56;56	ENSP00000353720:A57S;ENSP00000355193:A56S;ENSP00000390492:A56S	ENSP00000353720:A57S	A	-	1	0	CES1	54420271	1.000000	0.71417	0.999000	0.59377	0.149000	0.21700	7.126000	0.77201	2.051000	0.60960	0.393000	0.25936	GCC		0.557	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266		11	64	1	0	3.86e-05	7.03e-05	11	64				
RSPRY1	89970	broad.mit.edu	37	16	57238809	57238809	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr16:57238809C>A	ENST00000537866.1	+	2	1112	c.239C>A	c.(238-240)cCt>cAt	p.P80H	RSPRY1_ENST00000394420.4_Missense_Mutation_p.P80H			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	80						extracellular region (GO:0005576)	zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CCACGGGACCCTGTTCGGCCA	0.547																																						uc002elb.2		NA																	0				ovary(1)	1						c.(238-240)CCT>CAT		ring finger and SPRY domain containing 1							83.0	84.0	83.0					16																	57238809		2198	4300	6498	SO:0001583	missense	89970					extracellular region	zinc ion binding	g.chr16:57238809C>A	AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"""RING-type (C3HC4) zinc fingers"""	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.239C>A	16.37:g.57238809C>A	ENSP00000443176:p.Pro80His					RSPRY1_uc002elc.2_Missense_Mutation_p.P80H|RSPRY1_uc002eld.2_Missense_Mutation_p.P80H|RSPRY1_uc002ele.1_Missense_Mutation_p.P80H	p.P80H	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN			2	517	+			80					Q6UX21|Q8ND53	Missense_Mutation	SNP	ENST00000537866.1	37	c.239C>A	CCDS10775.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133791	0.77662	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	D;D	0.85629	-2.01;-2.01	5.27	5.27	0.74061	.	0.103647	0.64402	D	0.000002	D	0.89860	0.6837	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.96	D	0.87083	0.2167	10	0.26408	T	0.33	.	19.2604	0.93966	0.0:1.0:0.0:0.0	.	80;80	Q96DX4-2;Q96DX4	.;RSPRY_HUMAN	H	80	ENSP00000377942:P80H;ENSP00000443176:P80H	ENSP00000377942:P80H	P	+	2	0	RSPRY1	55796310	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.445000	0.80570	2.630000	0.89119	0.655000	0.94253	CCT		0.547	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368		7	67	1	0	0.000157383	0.000281906	7	67				
CDH11	1009	broad.mit.edu	37	16	64984742	64984742	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr16:64984742C>A	ENST00000268603.4	-	12	2437	c.1822G>T	c.(1822-1824)Gcc>Tcc	p.A608S	CDH11_ENST00000394156.3_Missense_Mutation_p.A608S|CDH11_ENST00000566827.1_Missense_Mutation_p.A482S	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	608	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AGAATGTAGGCCTCTGCGTTG	0.637			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												uc002eoi.2		NA		Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				lung(10)|ovary(3)|skin(1)	14						c.(1822-1824)GCC>TCC		cadherin 11, type 2 preproprotein							99.0	75.0	83.0					16																	64984742		2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:64984742C>A	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1822G>T	16.37:g.64984742C>A	ENSP00000268603:p.Ala608Ser	TSP Lung(24;0.17)				CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Missense_Mutation_p.A608S|CDH11_uc010vin.1_Missense_Mutation_p.A482S	p.A608S	NM_001797	NP_001788	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	12	2256	-		Ovarian(137;0.0973)	608			Cadherin 5.|Extracellular (Potential).		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.1822G>T	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686460	0.68157	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.57436	0.4;0.45	5.81	4.86	0.63082	Cadherin (1);	0.050454	0.85682	D	0.000000	T	0.60353	0.2262	M	0.89353	3.025	0.44702	D	0.997691	P;B	0.41131	0.739;0.07	B;B	0.41510	0.359;0.034	T	0.67304	-0.5704	10	0.72032	D	0.01	.	9.7378	0.40399	0.0:0.7865:0.14:0.0735	.	608;608	P55287-2;P55287	.;CAD11_HUMAN	S	608;608;591	ENSP00000268603:A608S;ENSP00000377711:A608S	ENSP00000268603:A608S	A	-	1	0	CDH11	63542243	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	2.830000	0.48136	1.458000	0.47871	0.655000	0.94253	GCC		0.637	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		17	26	1	0	4.75e-09	9.27e-09	17	26				
RLTPR	146206	broad.mit.edu	37	16	67683451	67683451	+	Silent	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr16:67683451C>T	ENST00000334583.6	+	20	2176	c.1848C>T	c.(1846-1848)atC>atT	p.I616I	RLTPR_ENST00000545661.1_Silent_p.I580I	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	616	Tropomodulin-like.				cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CGCTGGATATCAGCGGCAACG	0.672																																						uc002etn.2		NA																	0				breast(1)	1						c.(1846-1848)ATC>ATT		RGD motif, leucine rich repeats, tropomodulin							28.0	33.0	31.0					16																	67683451		1977	4143	6120	SO:0001819	synonymous_variant	146206							g.chr16:67683451C>T	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.1848C>T	16.37:g.67683451C>T						RLTPR_uc010cel.1_Silent_p.I609I|RLTPR_uc010vjr.1_Silent_p.I580I	p.I616I	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	20	1968	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	616			Tropomodulin-like.|LRR 14.		B8X2Z3	Silent	SNP	ENST00000334583.6	37	c.1848C>T	CCDS45513.1																																																																																				0.672	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		10	46	0	0	0	0	10	46				
CENPT	80152	broad.mit.edu	37	16	67862656	67862656	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr16:67862656C>G	ENST00000562787.1	-	14	1919	c.1371G>C	c.(1369-1371)aaG>aaC	p.K457N	CENPT_ENST00000564817.1_Missense_Mutation_p.K402N|CENPT_ENST00000562947.1_5'Flank|CENPT_ENST00000440851.2_Missense_Mutation_p.K457N|CENPT_ENST00000219172.3_Missense_Mutation_p.K457N	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	457					chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		TCAGTCCAGCCTTGTGGGGAT	0.587																																						uc002eun.3		NA																	0					0						c.(1369-1371)AAG>AAC		centromere protein T							132.0	134.0	134.0					16																	67862656		1877	4117	5994	SO:0001583	missense	80152				mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding	g.chr16:67862656C>G	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.1371G>C	16.37:g.67862656C>G	ENSP00000457810:p.Lys457Asn					CENPT_uc002eum.3_Missense_Mutation_p.K402N|CENPT_uc010vkc.1_Missense_Mutation_p.K215N|CENPT_uc010vkd.1_Missense_Mutation_p.K210N	p.K457N	NM_025082	NP_079358	Q96BT3	CENPT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)	14	1920	-		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	457					Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	ENST00000562787.1	37	c.1371G>C	CCDS42182.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.808309	0.50421	.	.	ENSG00000102901	ENST00000440851;ENST00000436104;ENST00000219172	T;T	0.70869	-0.52;-0.52	5.8	1.69	0.24217	Histone-fold (2);	0.286793	0.35262	N	0.003329	T	0.78489	0.4291	M	0.71581	2.175	0.39796	D	0.972503	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.81914	0.995;0.982;0.976	T	0.74783	-0.3548	10	0.33141	T	0.24	-13.0515	7.9076	0.29771	0.0:0.6687:0.0:0.3313	.	215;457;457	F5H5A6;Q96BT3;B3KPB2	.;CENPT_HUMAN;.	N	457;215;457	ENSP00000400140:K457N;ENSP00000219172:K457N	ENSP00000219172:K457N	K	-	3	2	CENPT	66420157	0.012000	0.17670	0.464000	0.27143	0.632000	0.37999	0.114000	0.15520	0.381000	0.24851	0.655000	0.94253	AAG		0.587	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082		12	171	0	0	0	0	12	171				
EDC4	23644	broad.mit.edu	37	16	67917557	67917557	+	Silent	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr16:67917557G>A	ENST00000358933.5	+	28	4175	c.3936G>A	c.(3934-3936)ccG>ccA	p.P1312P	CTC-479C5.10_ENST00000572067.1_lincRNA|NRN1L_ENST00000576147.1_5'Flank|NRN1L_ENST00000339176.3_5'Flank	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	1312					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CACCCTGCCCGCTCTCCCAGC	0.587											OREG0023890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002eur.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(3934-3936)CCG>CCA		autoantigen RCD8							135.0	139.0	137.0					16																	67917557		2198	4300	6498	SO:0001819	synonymous_variant	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67917557G>A	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.3936G>A	16.37:g.67917557G>A			OREG0023890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1103	EDC4_uc010cer.2_Silent_p.P931P|EDC4_uc002eus.2_Silent_p.P1042P|EDC4_uc002eut.1_3'UTR|NRN1L_uc002euu.2_5'Flank	p.P1312P	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	28	4102	+		Ovarian(137;0.0563)	1312					A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Silent	SNP	ENST00000358933.5	37	c.3936G>A	CCDS10849.1																																																																																				0.587	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		34	186	0	0	0	0	34	186				
BCAR1	9564	broad.mit.edu	37	16	75276926	75276926	+	Silent	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr16:75276926G>T	ENST00000162330.5	-	2	201	c.75C>A	c.(73-75)cgC>cgA	p.R25R	BCAR1_ENST00000420641.3_Silent_p.R43R|BCAR1_ENST00000535626.2_Silent_p.R25R|BCAR1_ENST00000393420.6_Silent_p.R25R|BCAR1_ENST00000418647.3_Silent_p.R71R|BCAR1_ENST00000542031.2_Silent_p.R23R|BCAR1_ENST00000546196.1_5'UTR|BCAR1_ENST00000538440.2_Silent_p.R25R|BCAR1_ENST00000393422.2_Silent_p.R43R	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	25	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGTCACCCTTGCGGAAGGAGA	0.627																																						uc002fdv.2		NA																	0				central_nervous_system(5)|breast(2)|prostate(1)	8						c.(73-75)CGC>CGA		breast cancer anti-estrogen resistance 1							43.0	44.0	44.0					16																	75276926		2198	4300	6498	SO:0001819	synonymous_variant	9564				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	g.chr16:75276926G>T	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.75C>A	16.37:g.75276926G>T						BCAR1_uc010cgu.2_5'UTR|BCAR1_uc010vna.1_Silent_p.R23R|BCAR1_uc010vnb.1_Silent_p.R71R|BCAR1_uc002fdw.2_Silent_p.R25R|BCAR1_uc010vnc.1_Silent_p.R25R|BCAR1_uc010vnd.1_Silent_p.R43R|BCAR1_uc002fdx.2_Silent_p.R43R	p.R25R	NM_014567	NP_055382	P56945	BCAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	2	198	-			25			SH3.		B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Silent	SNP	ENST00000162330.5	37	c.75C>A	CCDS10915.1																																																																																				0.627	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		7	44	1	0	2.01e-06	3.79e-06	7	44				
PKD1L2	114780	broad.mit.edu	37	16	81253869	81253869	+	RNA	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr16:81253869C>T	ENST00000525539.1	-	0	106				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCAAGCATCTCTGAAGGCCAC	0.562																																						uc002fgh.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(106-108)AGA>AAA		polycystin 1-like 2 isoform a							96.0	94.0	95.0					16																	81253869		2038	4195	6233			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81253869C>T	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81253869C>T						PKD1L2_uc002fgj.2_Missense_Mutation_p.R36K	p.R36K	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			1	107	-			36			Extracellular (Potential).|C-type lectin.		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37	c.107G>A		.	.	.	.	.	.	.	.	.	.	C	22.0	4.226770	0.79576	.	.	ENSG00000166473	ENST00000337114	T	0.16597	2.33	4.17	2.04	0.26737	C-type lectin fold (1);C-type lectin (2);	0.320797	0.28354	N	0.015653	T	0.17152	0.0412	.	.	.	0.21802	N	0.999533	P;P	0.46859	0.885;0.495	P;B	0.48189	0.57;0.09	T	0.05818	-1.0862	9	0.51188	T	0.08	-6.1092	4.1908	0.10419	0.0:0.4944:0.0:0.5056	.	36;36	Q7Z442-3;Q7Z442	.;PK1L2_HUMAN	K	36	ENSP00000337397:R36K	ENSP00000337397:R36K	R	-	2	0	PKD1L2	79811370	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.939000	0.56591	0.964000	0.38108	0.563000	0.77884	AGA		0.562	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			15	70	0	0	0	0	15	70				
RPH3AL	9501	broad.mit.edu	37	17	171088	171088	+	Missense_Mutation	SNP	C	C	T	rs374739978		TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr17:171088C>T	ENST00000331302.7	-	4	503	c.196G>A	c.(196-198)Gac>Aac	p.D66N	RP11-1260E13.1_ENST00000570501.1_RNA|RP11-1260E13.1_ENST00000572998.1_RNA|RPH3AL_ENST00000323434.8_Missense_Mutation_p.D66N|RPH3AL_ENST00000576001.1_5'Flank|RPH3AL_ENST00000536489.2_Missense_Mutation_p.D66N	NM_001190411.1|NM_006987.3	NP_001177340.1|NP_008918.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	66	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of protein secretion (GO:0050714)|regulation of calcium ion-dependent exocytosis (GO:0017158)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|secretory granule membrane (GO:0030667)	cytoskeletal protein binding (GO:0008092)|metal ion binding (GO:0046872)			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		TCCAGGACGTCGAGCCGCTCT	0.682																																						uc002frd.1		NA																	0				skin(1)	1						c.(196-198)GAC>AAC		rabphilin 3A-like (without C2 domains)		C	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	0,4406		0,0,2203	78.0	80.0	80.0		196,196,196,196	5.1	0.1	17		80	3,8597	2.2+/-6.3	0,3,4297	no	missense,missense,missense,missense	RPH3AL	NM_001190411.1,NM_001190412.1,NM_001190413.1,NM_006987.3	23,23,23,23	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging	66/316,66/287,66/287,66/316	171088	3,13003	2203	4300	6503	SO:0001583	missense	9501				exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding	g.chr17:171088C>T		CCDS10994.1, CCDS54059.1	17p13.3	2014-07-02			ENSG00000181031	ENSG00000181031		"""Synaptotagmins"""	10296	protein-coding gene	gene with protein product		604881				10395805	Standard	NM_006987		Approved	Noc2	uc021tmx.1	Q9UNE2	OTTHUMG00000090273	ENST00000331302.7:c.196G>A	17.37:g.171088C>T	ENSP00000328977:p.Asp66Asn					RPH3AL_uc010vpy.1_Missense_Mutation_p.D66N|RPH3AL_uc002fre.1_Missense_Mutation_p.D66N|RPH3AL_uc002frf.1_Missense_Mutation_p.D66N|RPH3AL_uc010cjl.1_Missense_Mutation_p.D66N	p.D66N	NM_006987	NP_008918	Q9UNE2	RPH3L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)	2	240	-			66			RabBD.		D3DTG7|Q9BSB3	Missense_Mutation	SNP	ENST00000331302.7	37	c.196G>A	CCDS10994.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226327	0.79576	0.0	3.49E-4	ENSG00000181031	ENST00000323434;ENST00000331302;ENST00000536489	T;T;T	0.76186	-1.0;-1.0;-1.0	5.05	5.05	0.67936	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Rabphilin-3A effector, zinc-binding (1);Zinc finger, FYVE/PHD-type (1);	0.065796	0.64402	D	0.000019	T	0.72581	0.3478	L	0.59436	1.845	0.40382	D	0.979455	P;P;P	0.42584	0.78;0.74;0.784	B;B;B	0.43360	0.417;0.293;0.358	T	0.77029	-0.2739	10	0.72032	D	0.01	-26.3775	11.0103	0.47659	0.0:0.9148:0.0:0.0852	.	66;66;66	A8K7D5;Q9UNE2-2;Q9UNE2	.;.;RPH3L_HUMAN	N	66	ENSP00000319210:D66N;ENSP00000328977:D66N;ENSP00000438224:D66N	ENSP00000319210:D66N	D	-	1	0	RPH3AL	171088	0.999000	0.42202	0.058000	0.19502	0.768000	0.43524	4.575000	0.60908	2.378000	0.81104	0.549000	0.68633	GAC		0.682	RPH3AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206597.2	NM_006987		29	75	0	0	0	0	29	75				
MYO1C	4641	broad.mit.edu	37	17	1375450	1375450	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr17:1375450G>A	ENST00000575158.1	-	18	1941	c.1765C>T	c.(1765-1767)Cgc>Tgc	p.R589C	MYO1C_ENST00000438665.2_Missense_Mutation_p.R605C|MYO1C_ENST00000361007.2_Missense_Mutation_p.R589C|MYO1C_ENST00000359786.5_Missense_Mutation_p.R624C|MYO1C_ENST00000545534.2_Missense_Mutation_p.R600C			Q12965	MYO1E_HUMAN	myosin IC	585	Actin-binding. {ECO:0000255}.|Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TTGATGCAGCGGACGTAGGCG	0.657																																						uc002fsp.2		NA																	0					0						c.(1870-1872)CGC>TGC		myosin IC isoform a							65.0	66.0	66.0					17																	1375450		2203	4300	6503	SO:0001583	missense	4641				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:1375450G>A	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.1765C>T	17.37:g.1375450G>A	ENSP00000459174:p.Arg589Cys					MYO1C_uc002fsn.2_Missense_Mutation_p.R605C|MYO1C_uc002fso.2_Missense_Mutation_p.R589C|MYO1C_uc010vqj.1_Missense_Mutation_p.R589C|MYO1C_uc010vqk.1_Missense_Mutation_p.R600C	p.R624C	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	18	2090	-			624			Myosin head-like.		Q14778	Missense_Mutation	SNP	ENST00000575158.1	37	c.1870C>T	CCDS11003.1	.	.	.	.	.	.	.	.	.	.	G	33	5.197996	0.94997	.	.	ENSG00000197879	ENST00000359786;ENST00000438665;ENST00000535856;ENST00000361007;ENST00000545534;ENST00000535421	D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72	4.89	4.89	0.63831	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.96503	0.8859	H	0.98664	4.295	0.80722	D	1	D;D;P	0.53151	0.958;0.958;0.948	P;P;P	0.54060	0.672;0.741;0.542	D	0.98241	1.0488	10	0.87932	D	0	.	16.9963	0.86368	0.0:0.0:1.0:0.0	.	600;624;605	B7Z3E5;O00159;O00159-3	.;MYO1C_HUMAN;.	C	624;605;605;589;600;589	ENSP00000352834:R624C;ENSP00000412197:R605C;ENSP00000354283:R589C;ENSP00000437685:R600C	ENSP00000352834:R624C	R	-	1	0	MYO1C	1322200	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.824000	0.86668	2.427000	0.82271	0.609000	0.83330	CGC		0.657	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2			5	112	0	0	0	0	5	112				
TP53	7157	broad.mit.edu	37	17	7578419	7578420	+	Nonsense_Mutation	DNP	CC	CC	AA	rs587781845		TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr17:7578419_7578420CC>AA	ENST00000269305.4	-	5	699_700	c.510_511GG>TT	c.(508-513)acGGag>acTTag	p.E171*	TP53_ENST00000455263.2_Nonsense_Mutation_p.E171*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Nonsense_Mutation_p.E171*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E171*|TP53_ENST00000420246.2_Nonsense_Mutation_p.E171*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E171*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	171	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E171K(11)|p.E171*(10)|p.0?(8)|p.T170T(7)|p.E171Q(4)|p.E171fs*2(3)|p.E171fs*10(3)|p.E171fs*3(2)|p.V157_C176del20(1)|p.T170fs*8(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.E171fs*9(1)|p.T170fs*2(1)|p.E171fs*1(1)|p.E78fs*2(1)|p.H168fs*3(1)|p.H168fs*69(1)|p.T170_E171insXX(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.E39fs*2(1)|p.E171_V172delEV(1)|p.E39K(1)|p.E78K(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTCACAACCTCCGTCATGTGCT	0.658		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		65	Substitution - Missense(17)|Deletion - Frameshift(15)|Substitution - Nonsense(10)|Whole gene deletion(8)|Substitution - coding silent(7)|Deletion - In frame(4)|Insertion - Frameshift(3)|Insertion - In frame(1)	p.E171*(10)|p.E171K(8)|p.0?(7)|p.T170T(7)|p.E171G(3)|p.E171Q(3)|p.E171fs*10(3)|p.E171fs*3(2)|p.E171V(2)|p.E171D(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.E171fs*9(1)|p.T170fs*2(1)|p.E171fs*1(1)|p.T170fs*8(1)|p.E171_V172delEV(1)|p.H168fs*69(1)|p.T170_E171insXX(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.E171A(1)|p.H168fs*3(1)	lung(11)|breast(9)|urinary_tract(8)|oesophagus(7)|upper_aerodigestive_tract(4)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|large_intestine(3)|stomach(3)|central_nervous_system(3)|skin(3)|ovary(2)|thyroid(1)|kidney(1)|endometrium(1)|liver(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(508-513)ACGGAG>ACTTAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578419_7578420CC>AA	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.510_511delinsAA	17.37:g.7578419_7578420delinsAA	ENSP00000269305:p.Glu171*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Nonsense_Mutation_p.E171*|TP53_uc002gih.2_Nonsense_Mutation_p.E171*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E39*|TP53_uc010cng.1_Nonsense_Mutation_p.E39*|TP53_uc002gii.1_Nonsense_Mutation_p.E39*|TP53_uc010cnh.1_Nonsense_Mutation_p.E171*|TP53_uc010cni.1_Nonsense_Mutation_p.E171*|TP53_uc002gij.2_Nonsense_Mutation_p.E171*|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Nonsense_Mutation_p.E78*|TP53_uc002gio.2_Nonsense_Mutation_p.E39*|TP53_uc010vug.1_Nonsense_Mutation_p.E132*	p.E171*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	704_705	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	171		E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	DNP	ENST00000269305.4	37	c.510_511GG>TT	CCDS11118.1																																																																																				0.658	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		16	26	0	0	0	0	16	26				
MAPK7	5598	broad.mit.edu	37	17	19286398	19286398	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr17:19286398G>A	ENST00000308406.5	+	7	2691	c.2305G>A	c.(2305-2307)Gat>Aat	p.D769N	MAPK7_ENST00000395602.4_Missense_Mutation_p.D769N|MAPK7_ENST00000395604.3_Missense_Mutation_p.D769N|MAPK7_ENST00000571657.1_3'UTR|MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000299612.7_Missense_Mutation_p.D630N	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	769	May not be required for kinase activity; required to stimulate MEF2C activity. {ECO:0000250}.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CAGCCAGGCAGATTCAGCCTC	0.597																																						uc002gvn.2		NA																	0				central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9						c.(2305-2307)GAT>AAT		mitogen-activated protein kinase 7 isoform 1							95.0	85.0	89.0					17																	19286398		2203	4300	6503	SO:0001583	missense	5598				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	g.chr17:19286398G>A	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"""Mitogen-activated protein kinase cascade / Kinases"""	6880	protein-coding gene	gene with protein product	"""BMK1 kinase"", ""extracellular-signal-regulated kinase 5"""	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.2305G>A	17.37:g.19286398G>A	ENSP00000311005:p.Asp769Asn					MAPK7_uc002gvo.2_Missense_Mutation_p.D630N|MAPK7_uc002gvq.2_Missense_Mutation_p.D769N|MAPK7_uc002gvp.2_Missense_Mutation_p.D769N|uc010vyt.1_5'Flank	p.D769N	NM_139033	NP_620602	Q13164	MK07_HUMAN			7	2691	+	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		769			May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).		Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	ENST00000308406.5	37	c.2305G>A	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.792480	0.90453	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;T;T;T	0.77098	-0.82;-1.07;-0.82;-0.82	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.84101	0.5398	L	0.40543	1.245	0.50632	D	0.999887	D	0.89917	1.0	D	0.83275	0.996	D	0.85397	0.1129	10	0.87932	D	0	-31.3653	17.1028	0.86654	0.0:0.0:1.0:0.0	.	769	Q13164	MK07_HUMAN	N	769;630;769;769	ENSP00000311005:D769N;ENSP00000299612:D630N;ENSP00000378968:D769N;ENSP00000378966:D769N	ENSP00000299612:D630N	D	+	1	0	MAPK7	19226991	1.000000	0.71417	0.995000	0.50966	0.619000	0.37552	6.767000	0.74975	2.642000	0.89623	0.491000	0.48974	GAT		0.597	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	NM_139033		28	78	0	0	0	0	28	78				
SLC47A2	146802	broad.mit.edu	37	17	19610064	19610064	+	Silent	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr17:19610064G>A	ENST00000325411.5	-	9	896	c.846C>T	c.(844-846)agC>agT	p.S282S	SLC47A2_ENST00000350657.5_Silent_p.S246S|SLC47A2_ENST00000463318.1_5'UTR	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	282					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	GCAGGCACTGGCTGGACCAAC	0.612																																						uc002gwe.3		NA																	0					0						c.(844-846)AGC>AGT		solute carrier family 47, member 2 isoform 1							70.0	66.0	67.0					17																	19610064		2203	4300	6503	SO:0001819	synonymous_variant	146802					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19610064G>A	AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"""Solute carriers"""	26439	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 2"""	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.846C>T	17.37:g.19610064G>A						SLC47A2_uc002gwg.3_Silent_p.S246S|SLC47A2_uc002gwf.3_Silent_p.S246S|SLC47A2_uc002gwh.3_RNA|SLC47A2_uc002gwi.2_RNA|SLC47A2_uc010cqs.1_RNA|SLC47A2_uc010cqt.1_RNA	p.S282S	NM_152908	NP_690872	Q86VL8	S47A2_HUMAN			9	1021	-	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)		282			Cytoplasmic (Potential).		A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Silent	SNP	ENST00000325411.5	37	c.846C>T	CCDS11211.1																																																																																				0.612	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132242.2	NM_152908		19	53	0	0	0	0	19	53				
CDK12	51755	broad.mit.edu	37	17	37673784	37673784	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr17:37673784A>G	ENST00000447079.4	+	10	2971	c.2938A>G	c.(2938-2940)Agg>Ggg	p.R980G	CDK12_ENST00000430627.2_Missense_Mutation_p.R980G	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	980	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GCAATATCGAAGGCGTCTACG	0.473			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												uc010cvv.2		NA		Rec	yes		17	17q12	51755		cyclin-dependent kinase 12			E					0				ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						c.(2938-2940)AGG>GGG		Cdc2-related kinase, arginine/serine-rich							158.0	141.0	147.0					17																	37673784		2203	4300	6503	SO:0001583	missense	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37673784A>G	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2938A>G	17.37:g.37673784A>G	ENSP00000398880:p.Arg980Gly	TCGA Ovarian(9;0.13)				CDK12_uc010wef.1_Missense_Mutation_p.R979G|CDK12_uc002hrw.3_Missense_Mutation_p.R980G	p.R980G	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN			10	3524	+			980			Protein kinase.		A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	c.2938A>G	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	A	16.21	3.058349	0.55325	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.43688	0.94;0.94	5.19	-0.423	0.12325	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47093	D	0.000245	T	0.48840	0.1522	N	0.25060	0.705	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.52931	-0.8509	10	0.62326	D	0.03	-10.7119	17.1505	0.86776	0.312:0.688:0.0:0.0	.	979;980;980	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	G	980	ENSP00000407720:R980G;ENSP00000398880:R980G	ENSP00000407720:R980G	R	+	1	2	CDK12	34927310	0.453000	0.25721	0.998000	0.56505	0.995000	0.86356	0.483000	0.22292	0.008000	0.14787	0.460000	0.39030	AGG		0.473	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		26	88	0	0	0	0	26	88				
KRTAP9-9	81870	broad.mit.edu	37	17	39412084	39412084	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr17:39412084C>A	ENST00000394008.1	+	1	449	c.447C>A	c.(445-447)tgC>tgA	p.C149*		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	134	14 X 5 AA repeats of C-C-[RQVGE]- [SPSTNQ]-[TASL].					keratin filament (GO:0045095)				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			AGACCACCTGCTGCAGGACCA	0.602																																						uc010wfq.1		NA																	0					0						c.(400-402)TGC>TGA		keratin associated protein 9-9							157.0	164.0	162.0					17																	39412084		2203	4298	6501	SO:0001587	stop_gained	81870					keratin filament		g.chr17:39412084C>A	AJ406951	CCDS54127.1	17q21.2	2010-06-03			ENSG00000198083	ENSG00000198083		"""Keratin associated proteins"""	16773	protein-coding gene	gene with protein product			"""keratin associated protein 9-5"""	KRTAP9-5		11279113	Standard	NM_030975		Approved	KAP9.9, KAP9.5	uc021txh.1	Q9BYP9	OTTHUMG00000133602	ENST00000394008.1:c.447C>A	17.37:g.39412084C>A	ENSP00000377576:p.Cys149*						p.C134*	NM_030975	NP_112237	B5MDD6	B5MDD6_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		3	404	+		Breast(137;0.000496)	149					B5MDD6|Q9BYQ1	Nonsense_Mutation	SNP	ENST00000394008.1	37	c.402C>A	CCDS54127.1	.	.	.	.	.	.	.	.	.	.	.	22.0	4.228537	0.79576	.	.	ENSG00000198083	ENST00000431129;ENST00000394008	.	.	.	3.19	1.04	0.20106	.	.	.	.	.	.	.	.	.	.	.	0.28074	N	0.932467	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.8135	0.13354	0.2171:0.6542:0.0:0.1286	.	.	.	.	X	155;149	.	ENSP00000377576:C149X	C	+	3	2	KRTAP9-9	36665610	0.968000	0.33430	0.023000	0.16930	0.835000	0.47333	2.308000	0.43690	0.569000	0.29329	0.205000	0.17691	TGC		0.602	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257710.1	NM_030975		78	170	1	0	3.55e-40	7.36e-40	78	170				
KRT36	8689	broad.mit.edu	37	17	39644611	39644611	+	Missense_Mutation	SNP	C	C	T	rs531137215		TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr17:39644611C>T	ENST00000328119.6	-	3	582	c.583G>A	c.(583-585)Gac>Aac	p.D195N	KRT36_ENST00000393986.2_Missense_Mutation_p.D145N	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	195	Coil 1B.|Rod.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CCGTTGATGTCGGCCTCCACT	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		19402	0.0		0.0	False		,,,				2504	0.001					uc002hwt.2		NA																	0					0						c.(583-585)GAC>AAC		keratin 36							76.0	69.0	72.0					17																	39644611		2203	4300	6503	SO:0001583	missense	8689					intermediate filament	protein binding|structural constituent of epidermis	g.chr17:39644611C>T	Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6454	protein-coding gene	gene with protein product		604540	"""keratin, hair, acidic, 6"""	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.583G>A	17.37:g.39644611C>T	ENSP00000329165:p.Asp195Asn						p.D195N	NM_003771	NP_003762	O76013	KRT36_HUMAN			3	583	-		Breast(137;0.000286)	195			Rod.|Coil 1B.		Q86XG4	Missense_Mutation	SNP	ENST00000328119.6	37	c.583G>A	CCDS11395.1	.	.	.	.	.	.	.	.	.	.	C	35	5.513439	0.96402	.	.	ENSG00000126337	ENST00000393986;ENST00000328119	D;D	0.89485	-2.52;-2.52	5.69	5.69	0.88448	Filament (1);	0.000000	0.53938	D	0.000054	D	0.95326	0.8483	M	0.85462	2.755	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	D	0.95450	0.8533	10	0.87932	D	0	.	19.8047	0.96525	0.0:1.0:0.0:0.0	.	195	O76013	KRT36_HUMAN	N	145;195	ENSP00000377555:D145N;ENSP00000329165:D195N	ENSP00000329165:D195N	D	-	1	0	KRT36	36898137	1.000000	0.71417	0.997000	0.53966	0.850000	0.48378	5.920000	0.70017	2.692000	0.91855	0.563000	0.77884	GAC		0.592	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259508.1	NM_003771		40	70	0	0	0	0	40	70				
CNTNAP1	8506	broad.mit.edu	37	17	40847632	40847632	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr17:40847632G>T	ENST00000264638.4	+	19	3303	c.3086G>T	c.(3085-3087)aGc>aTc	p.S1029I	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1029					axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.S1029I(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CACATGCTGAGCCGGCCAGTG	0.617																																						uc002iay.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8						c.(3085-3087)AGC>ATC		contactin associated protein 1 precursor							46.0	48.0	47.0					17																	40847632		2202	4300	6502	SO:0001583	missense	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40847632G>T	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.3086G>T	17.37:g.40847632G>T	ENSP00000264638:p.Ser1029Ile					CNTNAP1_uc010wgs.1_RNA	p.S1029I	NM_003632	NP_003623	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	19	3302	+		Breast(137;0.000143)	1029			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000264638.4	37	c.3086G>T	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.737350	0.49045	.	.	ENSG00000108797	ENST00000264638	D	0.90504	-2.68	4.99	4.02	0.46733	Concanavalin A-like lectin/glucanase (1);	0.000000	0.85682	D	0.000000	T	0.80105	0.4562	N	0.14661	0.345	0.36034	D	0.839592	B	0.19073	0.033	B	0.14023	0.01	T	0.75897	-0.3155	10	0.22109	T	0.4	.	9.4603	0.38781	0.0961:0.0:0.9039:0.0	.	1029	P78357	CNTP1_HUMAN	I	1029	ENSP00000264638:S1029I	ENSP00000264638:S1029I	S	+	2	0	CNTNAP1	38101158	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.388000	0.52509	1.316000	0.45131	0.655000	0.94253	AGC		0.617	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		9	84	1	0	0.000274275	0.00048489	9	84				
GPATCH8	23131	broad.mit.edu	37	17	42478140	42478140	+	Missense_Mutation	SNP	T	T	G	rs143765658	byFrequency	TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr17:42478140T>G	ENST00000591680.1	-	8	1335	c.1305A>C	c.(1303-1305)aaA>aaC	p.K435N	GPATCH8_ENST00000434000.1_Missense_Mutation_p.K357N	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	435							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		AACTGCCTTTTTTACTCTCTG	0.443											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002igw.1		NA																	0				ovary(2)|kidney(1)|skin(1)	4						c.(1303-1305)AAA>AAC		G patch domain containing 8							136.0	139.0	138.0					17																	42478140		2203	4300	6503	SO:0001583	missense	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42478140T>G	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.1305A>C	17.37:g.42478140T>G	ENSP00000467556:p.Lys435Asn		OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	909	GPATCH8_uc002igv.1_Missense_Mutation_p.K357N|GPATCH8_uc010wiz.1_Missense_Mutation_p.K357N	p.K435N	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	8	1369	-		Prostate(33;0.0181)	435					B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	c.1305A>C	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	T	11.93	1.784150	0.31593	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.12672	2.66	5.08	2.89	0.33648	.	0.311199	0.33457	N	0.004890	T	0.11750	0.0286	L	0.47716	1.5	0.29244	N	0.872448	B	0.27559	0.181	B	0.24155	0.051	T	0.10154	-1.0642	10	0.56958	D	0.05	-3.5855	7.5828	0.27974	0.0:0.2337:0.0:0.7663	.	435	Q9UKJ3	GPTC8_HUMAN	N	435;357	ENSP00000395016:K357N	ENSP00000335486:K435N	K	-	3	2	GPATCH8	39833666	0.992000	0.36948	0.997000	0.53966	0.893000	0.52053	0.410000	0.21098	0.415000	0.25817	0.460000	0.39030	AAA		0.443	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		13	181	0	0	0	0	13	181				
CBX1	10951	broad.mit.edu	37	17	46153470	46153470	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr17:46153470G>A	ENST00000393408.3	-	3	691	c.211C>T	c.(211-213)Cag>Tag	p.Q71*	CBX1_ENST00000225603.4_Nonsense_Mutation_p.Q71*|CBX1_ENST00000495350.1_Nonsense_Mutation_p.Q71*	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN	chromobox homolog 1	71	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				negative regulation of transcription, DNA-templated (GO:0045892)	chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|pericentric heterochromatin (GO:0005721)|spindle (GO:0005819)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						GCTGTTTTCTGTGACTGCAGA	0.483																																					NSCLC(136;694 2497 38792 39034)	uc002ind.3		NA																	0					0						c.(211-213)CAG>TAG		heterochromatin protein 1-beta							87.0	75.0	79.0					17																	46153470		2203	4300	6503	SO:0001587	stop_gained	10951					nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding	g.chr17:46153470G>A	U35451	CCDS11525.1	17q21.32	2010-07-06	2010-06-24		ENSG00000108468	ENSG00000108468			1551	protein-coding gene	gene with protein product	"""HP1 beta homolog (Drosophila )"""	604511	"""chromobox homolog 1 (Drosophila HP1 beta)"""			9169582	Standard	NM_001127228		Approved	HP1Hs-beta, M31, MOD1, CBX, HP1-BETA	uc002ind.4	P83916	OTTHUMG00000150417	ENST00000393408.3:c.211C>T	17.37:g.46153470G>A	ENSP00000377060:p.Gln71*					CBX1_uc002ine.3_Nonsense_Mutation_p.Q71*	p.Q71*	NM_006807	NP_006798	P83916	CBX1_HUMAN			3	692	-			71			Chromo 1.		P23197	Nonsense_Mutation	SNP	ENST00000393408.3	37	c.211C>T	CCDS11525.1	.	.	.	.	.	.	.	.	.	.	G	35	5.554564	0.96501	.	.	ENSG00000108468	ENST00000225603;ENST00000393408;ENST00000402583;ENST00000444685	.	.	.	5.85	5.85	0.93711	.	0.084049	0.47852	U	0.000215	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-38.3711	18.9246	0.92540	0.0:0.0:1.0:0.0	.	.	.	.	X	71	.	ENSP00000225603:Q71X	Q	-	1	0	CBX1	43508469	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.835000	0.99442	2.767000	0.95098	0.655000	0.94253	CAG		0.483	CBX1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318016.1	NM_006807		15	74	0	0	0	0	15	74				
TBCD	6904	broad.mit.edu	37	17	80865685	80865685	+	Silent	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr17:80865685G>A	ENST00000355528.4	+	21	2101	c.1971G>A	c.(1969-1971)caG>caA	p.Q657Q	TBCD_ENST00000539345.2_Silent_p.Q657Q|TBCD_ENST00000397466.2_Silent_p.Q271Q	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	657					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GCCTGAAGCAGATTCACCAGC	0.617																																						uc002kfz.2		NA																	0					0						c.(1969-1971)CAG>CAA		beta-tubulin cofactor D							57.0	64.0	62.0					17																	80865685		2033	4186	6219	SO:0001819	synonymous_variant	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80865685G>A	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.1971G>A	17.37:g.80865685G>A						TBCD_uc002kfx.1_Silent_p.Q640Q|TBCD_uc002kfy.1_Silent_p.Q657Q|TBCD_uc002kgb.1_5'UTR	p.Q657Q	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		21	2101	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	657					O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Silent	SNP	ENST00000355528.4	37	c.1971G>A	CCDS45818.1																																																																																				0.617	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		4	13	0	0	0	0	4	13				
ZBTB14	7541	broad.mit.edu	37	18	5291434	5291434	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr18:5291434G>C	ENST00000357006.4	-	4	1111	c.773C>G	c.(772-774)aCa>aGa	p.T258R	ZBTB14_ENST00000400143.3_Missense_Mutation_p.T258R	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1	O43829	ZBT14_HUMAN	zinc finger and BTB domain containing 14	258					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)										ACTGGCGGCTGTTGTCCAGCC	0.493																																						uc002kmq.2		NA																	0				ovary(1)	1						c.(772-774)ACA>AGA		zinc finger protein 161 homolog							66.0	66.0	66.0					18																	5291434		2203	4300	6503	SO:0001583	missense	7541				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:5291434G>C	D89859	CCDS11837.1	18p11.31	2013-09-19	2013-01-08	2013-01-08	ENSG00000198081	ENSG00000198081		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12860	protein-coding gene	gene with protein product		602126	"""zinc finger protein 161 homolog (mouse)"", ""zinc finger protein 161"", ""ZFP161 zinc finger protein"""	ZFP161		9244432	Standard	NM_001243702		Approved	ZNF478	uc010dkp.3	O43829	OTTHUMG00000131563	ENST00000357006.4:c.773C>G	18.37:g.5291434G>C	ENSP00000349503:p.Thr258Arg					ZFP161_uc002kmr.2_Missense_Mutation_p.T258R|ZFP161_uc010dkp.2_Missense_Mutation_p.T258R	p.T258R	NM_003409	NP_003400	O43829	ZF161_HUMAN			4	934	-			258					O00403|Q2TB80	Missense_Mutation	SNP	ENST00000357006.4	37	c.773C>G	CCDS11837.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.386504	0.42308	.	.	ENSG00000198081	ENST00000357006;ENST00000400143	T;T	0.09723	2.95;2.95	5.65	5.65	0.86999	.	0.052988	0.85682	D	0.000000	T	0.09774	0.0240	N	0.24115	0.695	0.80722	D	1	B	0.23891	0.093	B	0.18561	0.022	T	0.26326	-1.0106	10	0.25106	T	0.35	-20.9521	19.7305	0.96180	0.0:0.0:1.0:0.0	.	258	O43829	ZF161_HUMAN	R	258	ENSP00000349503:T258R;ENSP00000383009:T258R	ENSP00000349503:T258R	T	-	2	0	ZFP161	5281434	1.000000	0.71417	0.111000	0.21465	0.986000	0.74619	9.274000	0.95731	2.653000	0.90120	0.650000	0.86243	ACA		0.493	ZBTB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254425.1	NM_003409		32	110	0	0	0	0	32	110				
ZBTB14	7541	broad.mit.edu	37	18	5291439	5291439	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr18:5291439C>G	ENST00000357006.4	-	4	1106	c.768G>C	c.(766-768)tgG>tgC	p.W256C	ZBTB14_ENST00000400143.3_Missense_Mutation_p.W256C	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1	O43829	ZBT14_HUMAN	zinc finger and BTB domain containing 14	256					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)										CGGCTGTTGTCCAGCCTGGTG	0.493																																						uc002kmq.2		NA																	0				ovary(1)	1						c.(766-768)TGG>TGC		zinc finger protein 161 homolog							65.0	66.0	66.0					18																	5291439		2203	4300	6503	SO:0001583	missense	7541				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:5291439C>G	D89859	CCDS11837.1	18p11.31	2013-09-19	2013-01-08	2013-01-08	ENSG00000198081	ENSG00000198081		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12860	protein-coding gene	gene with protein product		602126	"""zinc finger protein 161 homolog (mouse)"", ""zinc finger protein 161"", ""ZFP161 zinc finger protein"""	ZFP161		9244432	Standard	NM_001243702		Approved	ZNF478	uc010dkp.3	O43829	OTTHUMG00000131563	ENST00000357006.4:c.768G>C	18.37:g.5291439C>G	ENSP00000349503:p.Trp256Cys					ZFP161_uc002kmr.2_Missense_Mutation_p.W256C|ZFP161_uc010dkp.2_Missense_Mutation_p.W256C	p.W256C	NM_003409	NP_003400	O43829	ZF161_HUMAN			4	929	-			256					O00403|Q2TB80	Missense_Mutation	SNP	ENST00000357006.4	37	c.768G>C	CCDS11837.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.935150	0.52866	.	.	ENSG00000198081	ENST00000357006;ENST00000400143	T;T	0.09723	2.95;2.95	5.8	5.8	0.92144	.	0.067093	0.64402	D	0.000003	T	0.17789	0.0427	N	0.24115	0.695	0.80722	D	1	D	0.71674	0.998	D	0.67725	0.953	T	0.01684	-1.1296	10	0.02654	T	1	-18.6273	20.053	0.97634	0.0:1.0:0.0:0.0	.	256	O43829	ZF161_HUMAN	C	256	ENSP00000349503:W256C;ENSP00000383009:W256C	ENSP00000349503:W256C	W	-	3	0	ZFP161	5281439	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.387000	0.79785	2.733000	0.93635	0.650000	0.86243	TGG		0.493	ZBTB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254425.1	NM_003409		33	115	0	0	0	0	33	115				
EPB41L3	23136	broad.mit.edu	37	18	5394794	5394794	+	Splice_Site	SNP	T	T	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr18:5394794T>A	ENST00000341928.2	-	22	3494		c.e22-2		EPB41L3_ENST00000542146.1_Splice_Site|EPB41L3_ENST00000427684.2_Splice_Site|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542652.2_Splice_Site|EPB41L3_ENST00000400111.3_Splice_Site|EPB41L3_ENST00000540638.2_Splice_Site|EPB41L3_ENST00000342933.3_Splice_Site	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3						apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AGCCAGCGCCTATCCCCGGGA	0.473																																						uc002kmt.1		NA																	0				ovary(5)	5						c.e22-1		erythrocyte membrane protein band 4.1-like 3							115.0	100.0	105.0					18																	5394794		2203	4300	6503	SO:0001630	splice_region_variant	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5394794T>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.3154-2A>T	18.37:g.5394794T>A						EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Splice_Site_p.A830_splice|EPB41L3_uc010dkq.1_Splice_Site_p.A721_splice|EPB41L3_uc002kms.1_Splice_Site_p.A287_splice|EPB41L3_uc010wze.1_Splice_Site_p.A357_splice|EPB41L3_uc010wzf.1_Splice_Site_p.A349_splice|EPB41L3_uc010wzg.1_Splice_Site_p.A324_splice|EPB41L3_uc010dkr.2_Splice_Site_p.A444_splice	p.A1052_splice	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			22	3240	-								B7Z4I5|F5GX05|O95713|Q9BRP5	Splice_Site	SNP	ENST00000341928.2	37	c.3154_splice	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.477025	0.84640	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1814	0.81903	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	EPB41L3	5384794	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.991000	0.88244	2.234000	0.73211	0.533000	0.62120	.		0.473	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307	Intron	62	64	0	0	0	0	62	64				
CELF4	56853	broad.mit.edu	37	18	34855109	34855109	+	Silent	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr18:34855109G>T	ENST00000591282.1	-	4	545	c.546C>A	c.(544-546)acC>acA	p.T182T	CELF4_ENST00000588597.1_Silent_p.T171T|CELF4_ENST00000591287.1_Silent_p.T181T|CELF4_ENST00000412753.1_Silent_p.T182T|RP11-797E24.3_ENST00000586610.1_RNA|CELF4_ENST00000361795.5_Silent_p.T181T|RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000420428.2_Silent_p.T182T|CELF4_ENST00000601019.1_Silent_p.T181T|CELF4_ENST00000603232.1_Silent_p.T182T|CELF4_ENST00000334919.5_Silent_p.T172T			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	182	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.|Sufficient for RNA-binding and MSE- dependent splicing activity.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CGCGCAGGATGGTGCACTCCT	0.662																																						uc002lae.2		NA																	0				ovary(2)	2						c.(544-546)ACC>ACA		bruno-like 4, RNA binding protein isoform 1							60.0	63.0	62.0					18																	34855109		2203	4300	6503	SO:0001819	synonymous_variant	56853				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr18:34855109G>T	AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.546C>A	18.37:g.34855109G>T						CELF4_uc010dnd.1_Silent_p.T181T|CELF4_uc002lag.2_Silent_p.T172T|CELF4_uc002laf.2_Silent_p.T177T|CELF4_uc002lai.2_Silent_p.T167T|CELF4_uc002lah.1_5'Flank|CELF4_uc002laj.1_5'Flank	p.T182T	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN			4	942	-			182			Sufficient for RNA-binding and MSE- dependent splicing activity.|RRM 2.		Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Silent	SNP	ENST00000591282.1	37	c.546C>A	CCDS32818.1																																																																																				0.662	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180		8	81	1	0	1.13e-05	2.09e-05	8	81				
ZCCHC2	54877	broad.mit.edu	37	18	60242731	60242731	+	Silent	SNP	C	C	T	rs536205273		TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr18:60242731C>T	ENST00000269499.5	+	13	3835	c.3417C>T	c.(3415-3417)agC>agT	p.S1139S	ZCCHC2_ENST00000586834.1_Silent_p.S818S	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	1139						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GTGGTGTAAGCGGACACTATG	0.458													C|||	1	0.000199681	0.0	0.0014	5008	,	,		22602	0.0		0.0	False		,,,				2504	0.0					uc002lip.3		NA																	0				lung(1)|prostate(1)	2						c.(3415-3417)AGC>AGT		zinc finger, CCHC domain containing 2							116.0	113.0	114.0					18																	60242731		2005	4177	6182	SO:0001819	synonymous_variant	54877				cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr18:60242731C>T	AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"""Zinc fingers, CCHC domain containing"""	22916	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 49"""	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.3417C>T	18.37:g.60242731C>T						ZCCHC2_uc002lio.2_RNA|ZCCHC2_uc002liq.2_Silent_p.S609S	p.S1139S	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN			13	3417	+			1139			CCHC-type.		B2RPG6|Q8N3S1|Q9NXF6	Silent	SNP	ENST00000269499.5	37	c.3417C>T	CCDS45880.1																																																																																				0.458	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450083.1	NM_017742		9	25	0	0	0	0	9	25				
XAB2	56949	broad.mit.edu	37	19	7685195	7685195	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:7685195C>A	ENST00000358368.4	-	16	2269	c.2232G>T	c.(2230-2232)caG>caT	p.Q744H	XAB2_ENST00000534844.1_Missense_Mutation_p.Q741H	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	744					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CCTTGAGCATCTGCGAGGCCA	0.627								Direct reversal of damage;Nucleotide excision repair (NER)																														uc002mgx.2		NA																	0				central_nervous_system(2)|breast(1)|skin(1)	4						c.(2230-2232)CAG>CAT	Direct_reversal_of_damage|NER	XPA binding protein 2							89.0	82.0	85.0					19																	7685195		2203	4300	6503	SO:0001583	missense	56949				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	g.chr19:7685195C>A	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.2232G>T	19.37:g.7685195C>A	ENSP00000351137:p.Gln744His						p.Q744H	NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN			16	2258	-			744					Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	ENST00000358368.4	37	c.2232G>T	CCDS32892.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.717943	0.48622	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.25912	1.77;1.77	4.91	3.85	0.44370	.	0.071769	0.56097	N	0.000022	T	0.29652	0.0740	M	0.81179	2.53	0.80722	D	1	B	0.28439	0.212	B	0.25405	0.06	T	0.12941	-1.0528	10	0.66056	D	0.02	-27.8396	8.4671	0.32962	0.0:0.7546:0.1582:0.0872	.	744	Q9HCS7	SYF1_HUMAN	H	744;741	ENSP00000351137:Q744H;ENSP00000438225:Q741H	ENSP00000351137:Q744H	Q	-	3	2	XAB2	7591195	1.000000	0.71417	0.999000	0.59377	0.783000	0.44284	4.653000	0.61462	1.021000	0.39600	0.305000	0.20034	CAG		0.627	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		6	43	1	0	3.6e-05	6.58e-05	6	43				
TIMM44	10469	broad.mit.edu	37	19	7997752	7997752	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:7997752G>A	ENST00000270538.3	-	8	1103	c.835C>T	c.(835-837)Ctt>Ttt	p.L279F	TIMM44_ENST00000598968.1_5'Flank	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	279					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						TTGTCCGTAAGGGCCCGGGAT	0.632																																						uc002miz.2		NA																	0				ovary(1)	1						c.(835-837)CTT>TTT		translocase of inner mitochondrial membrane 44							90.0	88.0	89.0					19																	7997752		2203	4300	6503	SO:0001583	missense	10469				protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr19:7997752G>A	AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.835C>T	19.37:g.7997752G>A	ENSP00000270538:p.Leu279Phe					TIMM44_uc002mja.2_Missense_Mutation_p.L19F|TIMM44_uc010dvx.1_RNA	p.L279F	NM_006351	NP_006342	O43615	TIM44_HUMAN			8	837	-			279					A8K0R9|D6W664|Q8N193	Missense_Mutation	SNP	ENST00000270538.3	37	c.835C>T	CCDS12192.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.543576	0.27563	.	.	ENSG00000104980	ENST00000270538	T	0.78003	-1.14	5.2	2.79	0.32731	.	0.121364	0.56097	D	0.000037	T	0.58133	0.2101	N	0.24115	0.695	0.37556	D	0.91888	B	0.15473	0.013	B	0.12837	0.008	T	0.55159	-0.8184	10	0.39692	T	0.17	-18.6441	2.8064	0.05429	0.1051:0.2286:0.5041:0.1622	.	279	O43615	TIM44_HUMAN	F	279	ENSP00000270538:L279F	ENSP00000270538:L279F	L	-	1	0	TIMM44	7903752	0.897000	0.30589	0.174000	0.22961	0.747000	0.42532	1.608000	0.36847	1.305000	0.44909	0.655000	0.94253	CTT		0.632	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461596.3			4	84	0	0	0	0	4	84				
FBN3	84467	broad.mit.edu	37	19	8148207	8148207	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:8148207G>T	ENST00000600128.1	-	57	7551	c.7137C>A	c.(7135-7137)tgC>tgA	p.C2379*	FBN3_ENST00000601739.1_Nonsense_Mutation_p.C2379*|FBN3_ENST00000270509.2_Nonsense_Mutation_p.C2379*			Q75N90	FBN3_HUMAN	fibrillin 3	2379	EGF-like 38; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGCTGTTGATGCACTCCCCAT	0.597																																						uc002mjf.2		NA																	0				ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(7135-7137)TGC>TGA		fibrillin 3 precursor							185.0	134.0	151.0					19																	8148207		2203	4300	6503	SO:0001587	stop_gained	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8148207G>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.7137C>A	19.37:g.8148207G>T	ENSP00000470498:p.Cys2379*					FBN3_uc002mje.2_Nonsense_Mutation_p.C218*	p.C2379*	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			56	7158	-			2379			EGF-like 38; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Nonsense_Mutation	SNP	ENST00000600128.1	37	c.7137C>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	G	48	14.627395	0.99803	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	.	.	.	5.13	1.86	0.25419	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.2414	0.31662	0.3065:0.0:0.6935:0.0	.	.	.	.	X	2379;485	.	ENSP00000270509:C2379X	C	-	3	2	FBN3	8054207	1.000000	0.71417	0.997000	0.53966	0.335000	0.28730	3.700000	0.54786	0.201000	0.20466	0.491000	0.48974	TGC		0.597	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		16	64	1	0	1.57e-10	3.09e-10	16	64				
OR7D2	162998	broad.mit.edu	37	19	9296822	9296822	+	Missense_Mutation	SNP	G	G	A	rs201893650		TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:9296822G>A	ENST00000344248.2	+	1	544	c.365G>A	c.(364-366)cGg>cAg	p.R122Q		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	122					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						GCCTATGACCGGTTTGTGGCT	0.502													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18711	0.0		0.0	False		,,,				2504	0.0					uc002mkz.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(364-366)CGG>CAG		olfactory receptor, family 7, subfamily D,							175.0	163.0	167.0					19																	9296822		2203	4300	6503	SO:0001583	missense	162998				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9296822G>A	AK095468	CCDS32900.1	19p13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.365G>A	19.37:g.9296822G>A	ENSP00000345563:p.Arg122Gln						p.R122Q	NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN			1	553	+			122			Cytoplasmic (Potential).		Q6IFJ7|Q8N133	Missense_Mutation	SNP	ENST00000344248.2	37	c.365G>A	CCDS32900.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	20.4	3.990659	0.74589	.	.	ENSG00000188000	ENST00000344248	T	0.76968	-1.06	2.21	1.16	0.20824	GPCR, rhodopsin-like superfamily (1);	0.200776	0.24490	N	0.038067	D	0.86066	0.5844	M	0.89658	3.05	0.21105	N	0.999784	D	0.71674	0.998	P	0.60886	0.88	T	0.76820	-0.2818	10	0.66056	D	0.02	.	8.4568	0.32903	0.1289:0.0:0.8711:0.0	.	122	Q96RA2	OR7D2_HUMAN	Q	122	ENSP00000345563:R122Q	ENSP00000345563:R122Q	R	+	2	0	OR7D2	9157822	0.645000	0.27286	0.996000	0.52242	0.811000	0.45836	3.499000	0.53310	0.527000	0.28560	-0.291000	0.09656	CGG		0.502	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449002.1			11	140	0	0	0	0	11	140				
TMEM161A	54929	broad.mit.edu	37	19	19243544	19243544	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:19243544C>T	ENST00000162044.9	-	4	272	c.208G>A	c.(208-210)Gag>Aag	p.E70K	TMEM161A_ENST00000450333.2_Missense_Mutation_p.E70K|TMEM161A_ENST00000592147.1_5'UTR|TMEM161A_ENST00000587583.2_Missense_Mutation_p.E70K	NM_017814.2	NP_060284.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A	70					cellular response to oxidative stress (GO:0034599)|cellular response to UV (GO:0034644)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of DNA repair (GO:0045739)|response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			GGCTTCTCCTCACTAAGGCCA	0.627																																						uc002nlg.2		NA																	0				breast(2)	2						c.(208-210)GAG>AAG		transmembrane protein 161A precursor							72.0	49.0	57.0					19																	19243544		2203	4300	6503	SO:0001583	missense	54929				cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane		g.chr19:19243544C>T	BC005210	CCDS12393.1, CCDS58656.1	19p13.11	2008-02-05				ENSG00000064545			26020	protein-coding gene	gene with protein product						12975309	Standard	NM_017814		Approved	FLJ39645, FLJ20422	uc002nlg.4	Q9NX61		ENST00000162044.9:c.208G>A	19.37:g.19243544C>T	ENSP00000162044:p.Glu70Lys					TMEM161A_uc010eca.2_RNA|TMEM161A_uc002nlh.2_Missense_Mutation_p.E70K|TMEM161A_uc002nli.2_Missense_Mutation_p.E70K|TMEM161A_uc002nlj.2_5'UTR	p.E70K	NM_017814	NP_060284	Q9NX61	T161A_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)		4	238	-			70			Extracellular (Potential).		B3KUE0|G5E9M6|Q7L2Y1	Missense_Mutation	SNP	ENST00000162044.9	37	c.208G>A	CCDS12393.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.197865	0.79015	.	.	ENSG00000064545	ENST00000450333;ENST00000162044	.	.	.	3.97	3.97	0.46021	.	0.494853	0.22182	N	0.063491	T	0.51483	0.1677	L	0.49126	1.545	0.58432	D	0.999995	P;P;P	0.42078	0.72;0.643;0.77	B;B;B	0.40506	0.263;0.292;0.331	T	0.50474	-0.8824	9	0.25751	T	0.34	-3.2034	13.8853	0.63704	0.0:1.0:0.0:0.0	.	70;70;70	G5E9M6;B3KUE0;Q9NX61	.;.;T161A_HUMAN	K	70	.	ENSP00000162044:E70K	E	-	1	0	TMEM161A	19104544	1.000000	0.71417	0.736000	0.30914	0.730000	0.41778	7.151000	0.77411	1.928000	0.55862	0.462000	0.41574	GAG		0.627	TMEM161A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460089.2	NM_017814		4	27	0	0	0	0	4	27				
ZNF100	163227	broad.mit.edu	37	19	21909734	21909734	+	Missense_Mutation	SNP	G	G	T	rs533592689		TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:21909734G>T	ENST00000358296.6	-	5	1578	c.1380C>A	c.(1378-1380)gaC>gaA	p.D460E	ZNF100_ENST00000305570.6_Missense_Mutation_p.D396E	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	460					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						TGCCACATTCGTCACATTTGT	0.408																																						uc002nqi.2		NA																	0					0						c.(1378-1380)GAC>GAA		zinc finger protein 100																																				SO:0001583	missense	163227				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21909734G>T	BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"""Zinc fingers, C2H2-type"", ""-"""	12880	protein-coding gene	gene with protein product		603982	"""zinc finger protein 100 (Y1)"""			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.1380C>A	19.37:g.21909734G>T	ENSP00000351042:p.Asp460Glu					ZNF100_uc002nqh.2_Missense_Mutation_p.D396E	p.D460E	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN			5	1579	-			460			C2H2-type 11.		Q7M4M0	Missense_Mutation	SNP	ENST00000358296.6	37	c.1380C>A	CCDS42538.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.436883	0.00182	.	.	ENSG00000197020	ENST00000358296	T	0.07216	3.21	0.867	-1.73	0.08081	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03348	0.0097	N	0.17278	0.47	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.45011	-0.9290	9	0.02654	T	1	.	3.6197	0.08090	0.0:0.1989:0.497:0.3041	.	460;514	Q8IYN0;Q4G131	ZN100_HUMAN;.	E	460	ENSP00000351042:D460E	ENSP00000351042:D460E	D	-	3	2	ZNF100	21701574	0.000000	0.05858	0.894000	0.35097	0.894000	0.52154	-4.568000	0.00214	-0.996000	0.03455	-1.025000	0.02430	GAC		0.408	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	NM_173531		11	89	1	0	6.4e-05	0.000115937	11	89				
ZNF208	7757	broad.mit.edu	37	19	22156525	22156525	+	Silent	SNP	G	G	A	rs551894730	byFrequency	TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:22156525G>A	ENST00000397126.4	-	4	1459	c.1311C>T	c.(1309-1311)tcC>tcT	p.S437S	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	437					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAAGGTTTGAGGACCAGTTGA	0.378																																						uc002nqp.2		NA																	0				ovary(5)|skin(2)	7						c.(1309-1311)TCC>TCT		zinc finger protein 208																																				SO:0001819	synonymous_variant	7757							g.chr19:22156525G>A	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1311C>T	19.37:g.22156525G>A						ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	p.S437S	NM_007153	NP_009084					4	1460	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.1311C>T	CCDS54240.1																																																																																				0.378	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		24	75	0	0	0	0	24	75				
ZNF208	7757	broad.mit.edu	37	19	22156838	22156838	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:22156838G>A	ENST00000397126.4	-	4	1146	c.998C>T	c.(997-999)gCa>gTa	p.A333V	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	333					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGCATGAATTGCCTTATGTGT	0.393																																						uc002nqp.2		NA																	0				ovary(5)|skin(2)	7						c.(997-999)GCA>GTA		zinc finger protein 208							58.0	59.0	59.0					19																	22156838		2005	4131	6136	SO:0001583	missense	7757							g.chr19:22156838G>A	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.998C>T	19.37:g.22156838G>A	ENSP00000380315:p.Ala333Val					ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	p.A333V	NM_007153	NP_009084					4	1147	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.998C>T	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	G	3.957	-0.011166	0.07727	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.19250	2.16	2.69	-5.38	0.02673	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11537	0.0281	.	.	.	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.24693	-1.0153	8	0.72032	D	0.01	.	0.54	0.00644	0.3169:0.2317:0.1127:0.3387	.	333	O43345	ZN208_HUMAN	V	333	ENSP00000380315:A333V	ENSP00000380315:A333V	A	-	2	0	ZNF208	21948678	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.791000	0.00365	-3.244000	0.00206	-3.706000	0.00023	GCA		0.393	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		42	59	0	0	0	0	42	59				
ZNF254	9534	broad.mit.edu	37	19	24310294	24310294	+	Missense_Mutation	SNP	T	T	G	rs554981870		TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:24310294T>G	ENST00000357002.4	+	4	1607	c.1492T>G	c.(1492-1494)Tct>Gct	p.S498A	ZNF254_ENST00000342944.6_Missense_Mutation_p.S413A	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	498					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ATGTGGCAAATCTTTTAGCCA	0.408																																						uc002nru.2		NA																	0					0						c.(1492-1494)TCT>GCT		zinc finger protein 254							60.0	62.0	61.0					19																	24310294		2201	4297	6498	SO:0001583	missense	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24310294T>G	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1492T>G	19.37:g.24310294T>G	ENSP00000349494:p.Ser498Ala					ZNF254_uc010xrk.1_Missense_Mutation_p.S413A	p.S498A	NM_203282	NP_975011	O75437	ZN254_HUMAN			4	1626	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	498			C2H2-type 11.		A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	c.1492T>G	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.794782	0.00004	.	.	ENSG00000213096	ENST00000342944;ENST00000357002	T;T	0.35605	1.3;1.3	1.07	-0.329	0.12686	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12689	0.0308	N	0.04686	-0.185	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32322	-0.9911	9	0.02654	T	1	.	5.3479	0.16020	0.0:0.0:0.4143:0.5857	.	498	O75437	ZN254_HUMAN	A	413;498	ENSP00000445527:S413A;ENSP00000349494:S498A	ENSP00000445527:S413A	S	+	1	0	ZNF254	24102134	0.000000	0.05858	0.038000	0.18304	0.305000	0.27757	-1.126000	0.03254	-0.309000	0.08779	-0.762000	0.03455	TCT		0.408	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		3	72	0	0	0	0	3	72				
PLEKHF1	79156	broad.mit.edu	37	19	30165036	30165036	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:30165036A>C	ENST00000436066.3	+	2	756	c.290A>C	c.(289-291)aAg>aCg	p.K97T	PLEKHF1_ENST00000592810.1_Missense_Mutation_p.K97T	NM_024310.4	NP_077286.3	Q96S99	PKHF1_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 1	97	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic process (GO:0006915)|endosome organization (GO:0007032)|positive regulation of autophagy (GO:0010508)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|protein localization to plasma membrane (GO:0072659)|vesicle organization (GO:0016050)	endosome membrane (GO:0010008)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(1)|lung(3)|ovary(1)|prostate(1)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			CTGCAGGCCAAGAACCGCTGG	0.602																																						uc002nsh.3		NA																	0					0						c.(289-291)AAG>ACG		apoptosis-inducing protein D							78.0	71.0	73.0					19																	30165036		2203	4300	6503	SO:0001583	missense	79156				apoptosis	lysosome|nucleus|perinuclear region of cytoplasm	metal ion binding	g.chr19:30165036A>C	AF434818	CCDS12417.1	19q11	2013-01-10				ENSG00000166289		"""Zinc fingers, FYVE domain containing"", ""Pleckstrin homology (PH) domain containing"""	20764	protein-coding gene	gene with protein product		615200					Standard	NM_024310		Approved	APPD, MGC4090, PHAFIN1, ZFYVE15	uc002nsh.4	Q96S99		ENST00000436066.3:c.290A>C	19.37:g.30165036A>C	ENSP00000389787:p.Lys97Thr					PLEKHF1_uc002nsi.3_Missense_Mutation_p.K182T	p.K97T	NM_024310	NP_077286	Q96S99	PKHF1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)		2	392	+	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		97			PH.		Q96K11|Q9BUB9	Missense_Mutation	SNP	ENST00000436066.3	37	c.290A>C	CCDS12417.1	.	.	.	.	.	.	.	.	.	.	A	11.31	1.600619	0.28534	.	.	ENSG00000166289	ENST00000436066	T	0.47869	0.83	5.16	3.07	0.35406	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.415188	0.30519	N	0.009451	T	0.56077	0.1961	L	0.47716	1.5	0.35808	D	0.823632	D;D	0.67145	0.996;0.996	D;D	0.70487	0.969;0.967	T	0.62558	-0.6829	10	0.72032	D	0.01	0.7805	7.5443	0.27757	0.7584:0.0:0.2416:0.0	.	182;97	B4DWN9;Q96S99	.;PKHF1_HUMAN	T	97	ENSP00000389787:K97T	ENSP00000389787:K97T	K	+	2	0	PLEKHF1	34856876	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	3.686000	0.54685	0.301000	0.22738	-0.441000	0.05720	AAG		0.602	PLEKHF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459323.1	NM_024310		22	27	0	0	0	0	22	27				
ZNF536	9745	broad.mit.edu	37	19	31039643	31039643	+	Silent	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:31039643C>A	ENST00000355537.3	+	4	3264	c.3117C>A	c.(3115-3117)gtC>gtA	p.V1039V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1039					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGGTCACAGTCAACTGCAAAG	0.542																																						uc002nsu.1		NA																	0				ovary(7)|large_intestine(2)|skin(2)	11						c.(3115-3117)GTC>GTA		zinc finger protein 536							86.0	77.0	80.0					19																	31039643		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039643C>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3117C>A	19.37:g.31039643C>A						ZNF536_uc010edd.1_Silent_p.V1039V	p.V1039V	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	3255	+	Esophageal squamous(110;0.0834)		1039					A2RU18	Silent	SNP	ENST00000355537.3	37	c.3117C>A	CCDS32984.1																																																																																				0.542	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		17	45	1	0	3.53e-06	6.61e-06	17	45				
DMPK	1760	broad.mit.edu	37	19	46280797	46280797	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:46280797C>T	ENST00000291270.4	-	8	1059	c.934G>A	c.(934-936)Gac>Aac	p.D312N	DMPK_ENST00000447742.2_Missense_Mutation_p.D312N|DMPK_ENST00000595361.1_5'Flank|DMPK_ENST00000354227.5_Missense_Mutation_p.D312N|DMPK_ENST00000458663.2_Missense_Mutation_p.D312N|DMPK_ENST00000343373.4_Missense_Mutation_p.D322N|DMPK_ENST00000600757.1_Missense_Mutation_p.D322N	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	312	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		TGAATGAAGTCTCGAGCCTCC	0.652																																					Esophageal Squamous(35;307 869 9153 24033 28903)	uc002pdd.1		NA																	0				lung(3)	3						c.(964-966)GAC>AAC		myotonic dystrophy protein kinase isoform 1							41.0	45.0	44.0					19																	46280797		2203	4300	6503	SO:0001583	missense	1760				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:46280797C>T	L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"""dystrophia myotonica 1"", ""DM protein kinase"", ""myotonin protein kinase A"", ""myotonic dystrophy associated protein kinase"", ""thymopoietin homolog"""	605377	"""dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"""	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.934G>A	19.37:g.46280797C>T	ENSP00000291270:p.Asp312Asn					DMPK_uc010xxs.1_Missense_Mutation_p.D223N|DMPK_uc002pde.1_Missense_Mutation_p.D322N|DMPK_uc002pdf.1_Missense_Mutation_p.D312N|DMPK_uc002pdg.1_Missense_Mutation_p.D312N|DMPK_uc002pdh.1_Missense_Mutation_p.D312N|DMPK_uc002pdi.1_Missense_Mutation_p.D338N|DMPK_uc010xxt.1_Missense_Mutation_p.D312N	p.D322N	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)	7	1508	-		Ovarian(192;0.0308)|all_neural(266;0.112)	322			Protein kinase.		E5KR08|Q16205|Q6P5Z6	Missense_Mutation	SNP	ENST00000291270.4	37	c.964G>A	CCDS12674.1	.	.	.	.	.	.	.	.	.	.	c	14.32	2.500403	0.44455	.	.	ENSG00000104936	ENST00000458663;ENST00000342805;ENST00000291270;ENST00000447742;ENST00000377750;ENST00000343373;ENST00000348168;ENST00000354227	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	4.63	2.49	0.30216	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.48767	D	0.000176	T	0.47097	0.1427	L	0.61387	1.9	0.80722	D	1	B;B;B;B;B;B;B;B	0.28400	0.21;0.014;0.014;0.01;0.033;0.005;0.176;0.036	B;B;B;B;B;B;B;B	0.36989	0.238;0.009;0.01;0.023;0.03;0.012;0.046;0.017	T	0.45101	-0.9284	10	0.49607	T	0.09	.	9.1978	0.37240	0.0:0.8342:0.0:0.1658	.	312;312;338;312;312;312;359;322	Q09013-12;Q09013-16;G5E982;E5KR07;E5KR05;Q09013;Q59FU6;E5KR08	.;.;.;.;.;DMPK_HUMAN;.;.	N	312;338;312;312;312;322;322;312	ENSP00000401753:D312N;ENSP00000291270:D312N;ENSP00000413417:D312N;ENSP00000345997:D322N;ENSP00000346168:D312N	ENSP00000291270:D312N	D	-	1	0	DMPK	50972637	0.995000	0.38212	0.946000	0.38457	0.554000	0.35429	3.674000	0.54598	0.677000	0.31305	0.561000	0.74099	GAC		0.652	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1	NM_004409		11	59	0	0	0	0	11	59				
LHB	3972	broad.mit.edu	37	19	49519449	49519449	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:49519449G>A	ENST00000221421.2	-	3	301	c.302C>T	c.(301-303)tCc>tTc	p.S101F	CTB-60B18.10_ENST00000600007.1_lincRNA	NM_000894.2	NP_000885.1	P01229	LSHB_HUMAN	luteinizing hormone beta polypeptide	101					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|male gonad development (GO:0008584)|peptide hormone processing (GO:0016486)|progesterone biosynthetic process (GO:0006701)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CACAGGGAAGGAGACCACGGG	0.672																																						uc002plt.2		NA																	0					0						c.(301-303)TCC>TTC		luteinizing hormone beta subunit precursor	Lutropin alfa(DB00044)|Menotropins(DB00032)						69.0	72.0	71.0					19																	49519449		2203	4300	6503	SO:0001583	missense	3972				cell-cell signaling|cellular nitrogen compound metabolic process|male gonad development|peptide hormone processing|progesterone biosynthetic process|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr19:49519449G>A		CCDS12748.1	19q13.3	2013-02-26				ENSG00000104826		"""Endogenous ligands"""	6584	protein-coding gene	gene with protein product	"""lutropin, beta chain"", ""interstitial cell stimulating hormone, beta chain"", ""luteinizing hormone beta subunit"""	152780				1191677	Standard	NM_000894		Approved	LSH-B, CGB4, hLHB	uc002plt.3	P01229		ENST00000221421.2:c.302C>T	19.37:g.49519449G>A	ENSP00000221421:p.Ser101Phe						p.S101F	NM_000894	NP_000885	P01229	LSHB_HUMAN		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	3	311	-		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	101					Q9UDI0	Missense_Mutation	SNP	ENST00000221421.2	37	c.302C>T	CCDS12748.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822811	0.32237	.	.	ENSG00000104826	ENST00000221421;ENST00000391870	D	0.91577	-2.87	4.71	2.43	0.29744	Cystine knot (1);	0.335175	0.29699	N	0.011422	D	0.95284	0.8470	M	0.92317	3.295	0.36504	D	0.869197	D	0.71674	0.998	D	0.74348	0.983	D	0.94929	0.8080	10	0.87932	D	0	-23.6987	7.7478	0.28879	0.0:0.18:0.6336:0.1863	.	101	P01229	LSHB_HUMAN	F	101;117	ENSP00000221421:S101F	ENSP00000221421:S101F	S	-	2	0	LHB	54211261	1.000000	0.71417	0.777000	0.31699	0.011000	0.07611	1.422000	0.34826	0.453000	0.26858	0.462000	0.41574	TCC		0.672	LHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466246.1	NM_000894		5	104	0	0	0	0	5	104				
CPT1C	126129	broad.mit.edu	37	19	50209265	50209265	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:50209265C>A	ENST00000392518.4	+	11	1436	c.1064C>A	c.(1063-1065)cCg>cAg	p.P355Q	CPT1C_ENST00000598293.1_Missense_Mutation_p.P355Q|CPT1C_ENST00000354199.5_Missense_Mutation_p.P355Q|CPT1C_ENST00000405931.2_Missense_Mutation_p.P344Q|CPT1C_ENST00000323446.5_Missense_Mutation_p.P355Q	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	355					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CTGCTTTCCCCGAGAGCCCTG	0.612																																						uc002ppj.2		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1063-1065)CCG>CAG		carnitine palmitoyltransferase 1C isoform 2							61.0	57.0	59.0					19																	50209265		2203	4300	6503	SO:0001583	missense	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50209265C>A	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.1064C>A	19.37:g.50209265C>A	ENSP00000376303:p.Pro355Gln					CPT1C_uc002ppl.3_Missense_Mutation_p.P321Q|CPT1C_uc002ppi.2_Missense_Mutation_p.P272Q|CPT1C_uc002ppk.2_Missense_Mutation_p.P344Q|CPT1C_uc010eng.2_Missense_Mutation_p.P355Q|CPT1C_uc010enh.2_Missense_Mutation_p.P355Q|CPT1C_uc010ybc.1_Missense_Mutation_p.P226Q|CPT1C_uc010eni.1_Missense_Mutation_p.P12Q	p.P355Q	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	10	1269	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	355			Cytoplasmic (Potential).		A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	37	c.1064C>A	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.609959	0.87258	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446;ENST00000295404	D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.66	4.29	4.29	0.51040	.	0.000000	0.47093	D	0.000245	D	0.94162	0.8127	M	0.62088	1.915	0.58432	D	0.999995	D;D;D;D	0.89917	0.994;1.0;1.0;1.0	D;D;D;D	0.97110	0.968;1.0;0.992;0.997	D	0.94857	0.8018	10	0.87932	D	0	-33.6372	15.6481	0.77070	0.0:1.0:0.0:0.0	.	226;355;344;355	C9IY45;Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;.;CPT1C_HUMAN	Q	355;355;344;355;226	ENSP00000376303:P355Q;ENSP00000346138:P355Q;ENSP00000384465:P344Q;ENSP00000319343:P355Q	ENSP00000295404:P226Q	P	+	2	0	CPT1C	54901077	1.000000	0.71417	0.488000	0.27440	0.982000	0.71751	5.433000	0.66520	2.225000	0.72522	0.555000	0.69702	CCG		0.612	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		4	69	1	0	0.00024832	0.000441879	4	69				
ZNF701	55762	broad.mit.edu	37	19	53086647	53086647	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:53086647G>T	ENST00000540331.1	+	5	1758	c.1533G>T	c.(1531-1533)aaG>aaT	p.K511N	ZNF701_ENST00000391785.3_Missense_Mutation_p.K445N|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Missense_Mutation_p.K511N	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	511					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AATGTGGCAAGGTTTTTAATC	0.348																																					NSCLC(89;451 1475 9611 20673 52284)	uc002pzs.1		NA																	0					0						c.(1333-1335)AAG>AAT		zinc finger protein 701							42.0	41.0	41.0					19																	53086647		2199	4296	6495	SO:0001583	missense	55762				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53086647G>T	AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"""Zinc fingers, C2H2-type"", ""-"""	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.1533G>T	19.37:g.53086647G>T	ENSP00000444339:p.Lys511Asn					ZNF701_uc010ydn.1_Missense_Mutation_p.K511N	p.K445N	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)	4	1462	+			445			C2H2-type 7.		A2RRM8|B9EGF2|F5GZM6|Q66K42	Missense_Mutation	SNP	ENST00000540331.1	37	c.1335G>T	CCDS54311.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.307743	0.40795	.	.	ENSG00000167562	ENST00000391785;ENST00000301093;ENST00000540331	T;T;T	0.27890	1.64;1.64;1.64	1.94	0.753	0.18404	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.58047	0.2095	M	0.93197	3.39	0.21020	N	0.99981	P;D	0.89917	0.59;1.0	B;D	0.83275	0.422;0.996	T	0.45571	-0.9252	9	0.87932	D	0	.	3.4999	0.07669	0.1526:0.0:0.5963:0.2511	.	511;445	F5GZM6;Q9NV72	.;ZN701_HUMAN	N	445;511;511	ENSP00000375662:K445N;ENSP00000301093:K511N;ENSP00000444339:K511N	ENSP00000301093:K511N	K	+	3	2	ZNF701	57778459	0.033000	0.19621	0.023000	0.16930	0.128000	0.20619	0.052000	0.14163	0.119000	0.18210	0.456000	0.33151	AAG		0.348	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	NM_018260		17	33	1	0	5.04e-11	9.94e-11	17	33				
LILRA5	353514	broad.mit.edu	37	19	54823182	54823182	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:54823182G>A	ENST00000301219.3	-	4	480	c.361C>T	c.(361-363)Cct>Tct	p.P121S	LILRA5_ENST00000432233.3_Missense_Mutation_p.P121S|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000346508.3_Missense_Mutation_p.P109S|LILRA5_ENST00000446712.3_Missense_Mutation_p.P109S	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	121	Ig-like C2-type 1.				innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGCCTGCAGGGCTGTAGTAG	0.612																																						uc002qfe.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(361-363)CCT>TCT		leukocyte immunoglobulin-like receptor subfamily							210.0	188.0	196.0					19																	54823182		2203	4300	6503	SO:0001583	missense	353514				innate immune response	extracellular region|integral to membrane	receptor activity	g.chr19:54823182G>A	AF212842	CCDS12888.1, CCDS12889.1	19q13.4	2013-01-11	2005-05-13	2005-05-13	ENSG00000187116	ENSG00000187116		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16309	protein-coding gene	gene with protein product		606047		LILRB7		10941842	Standard	NM_181986		Approved	ILT11, LIR9, CD85, CD85f	uc002qfe.3	A6NI73	OTTHUMG00000065357	ENST00000301219.3:c.361C>T	19.37:g.54823182G>A	ENSP00000301219:p.Pro121Ser					LILRA5_uc002qff.2_Missense_Mutation_p.P109S|LILRA5_uc010yev.1_Missense_Mutation_p.P121S|LILRA5_uc010yew.1_Missense_Mutation_p.P109S|LILRA5_uc002qfh.1_Missense_Mutation_p.P109S|LILRA5_uc002qfg.1_Missense_Mutation_p.P121S	p.P121S	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	4	481	-	Ovarian(34;0.19)		121			Extracellular (Potential).|Ig-like C2-type 1.		A6NHI3	Missense_Mutation	SNP	ENST00000301219.3	37	c.361C>T	CCDS12888.1	.	.	.	.	.	.	.	.	.	.	G	3.983	-0.005959	0.07773	.	.	ENSG00000187116	ENST00000301219;ENST00000346508;ENST00000446712;ENST00000432233	T;T;T;T	0.11169	2.8;2.8;2.8;2.8	3.16	-6.32	0.01995	Immunoglobulin subtype 2 (1);Immunoglobulin-like fold (1);	0.663319	0.12297	N	0.481511	T	0.04543	0.0124	L	0.31476	0.935	0.09310	N	1	B;B;P;B	0.38617	0.379;0.06;0.64;0.189	B;B;B;B	0.35971	0.215;0.029;0.215;0.123	T	0.21075	-1.0256	10	0.26408	T	0.33	.	1.0579	0.01594	0.3115:0.2688:0.283:0.1367	.	109;121;109;121	A6NI73-4;A6NI73-3;A6NI73-2;A6NI73	.;.;.;LIRA5_HUMAN	S	121;109;109;121	ENSP00000301219:P121S;ENSP00000302948:P109S;ENSP00000389499:P109S;ENSP00000404236:P121S	ENSP00000301219:P121S	P	-	1	0	LILRA5	59514994	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.650000	0.01991	-1.442000	0.01955	0.411000	0.27672	CCT		0.612	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140231.1	NM_181985		48	141	0	0	0	0	48	141				
KIR3DL1	3811	broad.mit.edu	37	19	55286879	55286879	+	Intron	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:55286879G>T	ENST00000538269.1	+	2	61				CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000541392.1_Intron|KIR2DL1_ENST00000336077.6_Missense_Mutation_p.K211N|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.K211N|KIR3DL1_ENST00000402254.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR2DL4_ENST00000396284.2_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		AGTGGTCAAAGTCAAGTGACC	0.547																																						uc002qhb.1		NA																	0					0						c.(631-633)AAG>AAT		killer cell immunoglobulin-like receptor, two							173.0	180.0	177.0					19																	55286879		2124	4205	6329	SO:0001627	intron_variant	3802				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr19:55286879G>T	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-42110G>T	19.37:g.55286879G>T						KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_RNA|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc010erz.1_Missense_Mutation_p.K211N	p.K211N	NM_014218	NP_055033	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	4	671	+			211			Extracellular (Potential).		O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37	c.633G>T		.	.	.	.	.	.	.	.	.	.	C	0.021	-1.428231	0.01117	.	.	ENSG00000125498	ENST00000336077;ENST00000291633	T;T	0.00760	5.73;5.73	1.1	-6.75E-4	0.14037	.	.	.	.	.	T	0.00356	0.0011	N	0.02916	-0.46	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43845	-0.9366	9	0.02654	T	1	.	2.4283	0.04465	0.0:0.4246:0.3291:0.2463	.	211;211	Q6IST4;Q6H2H3	.;.	N	211	ENSP00000336769:K211N;ENSP00000291633:K211N	ENSP00000291633:K211N	K	+	3	2	KIR2DL1	59978691	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.102000	0.10956	-0.370000	0.08016	-1.123000	0.02005	AAG		0.547	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		14	188	1	0	0.000308642	0.000544466	14	188				
FCAR	2204	broad.mit.edu	37	19	55399565	55399565	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:55399565C>T	ENST00000355524.3	+	4	563	c.553C>T	c.(553-555)Ctc>Ttc	p.L185F	FCAR_ENST00000391725.3_Missense_Mutation_p.L185F|CTB-61M7.2_ENST00000594721.1_lincRNA|FCAR_ENST00000359272.4_Missense_Mutation_p.L173F|FCAR_ENST00000469767.1_Missense_Mutation_p.L185F|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391724.3_Missense_Mutation_p.L173F|FCAR_ENST00000345937.4_Intron|FCAR_ENST00000391723.3_Missense_Mutation_p.L173F|FCAR_ENST00000391726.3_Intron|FCAR_ENST00000353758.4_Missense_Mutation_p.L76F	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	185	Ig-like C2-type 2.				immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		TCCTGTGGACCTCAATGTCTC	0.537																																						uc002qhr.1		NA																	0				ovary(1)|skin(1)	2						c.(553-555)CTC>TTC		Fc alpha receptor isoform a precursor							75.0	65.0	68.0					19																	55399565		2203	4300	6503	SO:0001583	missense	2204				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	g.chr19:55399565C>T	X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	ENST00000355524.3:c.553C>T	19.37:g.55399565C>T	ENSP00000347714:p.Leu185Phe					FCAR_uc002qhq.2_Missense_Mutation_p.L185F|FCAR_uc002qhs.1_Intron|FCAR_uc002qht.1_Missense_Mutation_p.L158F|FCAR_uc010esi.1_Intron|FCAR_uc002qhu.1_Intron|FCAR_uc002qhv.1_Missense_Mutation_p.L185F|FCAR_uc002qhw.1_Missense_Mutation_p.L173F|FCAR_uc002qhx.1_Intron|FCAR_uc002qhy.1_Missense_Mutation_p.L173F|FCAR_uc002qhz.1_Missense_Mutation_p.L173F|FCAR_uc002qia.1_Missense_Mutation_p.L76F	p.L185F	NM_002000	NP_001991	P24071	FCAR_HUMAN		GBM - Glioblastoma multiforme(193;0.0443)	4	750	+			185			Ig-like C2-type 2.|Extracellular (Potential).		Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Missense_Mutation	SNP	ENST00000355524.3	37	c.553C>T	CCDS12907.1	.	.	.	.	.	.	.	.	.	.	C	6.578	0.475013	0.12521	.	.	ENSG00000186431	ENST00000433231;ENST00000355524;ENST00000391725;ENST00000353758;ENST00000359272;ENST00000391723;ENST00000391724	T;T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57;2.57	2.86	-5.72	0.02406	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	2.922960	0.01562	N	0.020169	T	0.12902	0.0313	L	0.45352	1.415	0.09310	N	1	B;B;P;P;P;B;B	0.44627	0.101;0.289;0.763;0.545;0.839;0.204;0.077	B;B;B;B;P;B;B	0.46049	0.02;0.103;0.32;0.186;0.502;0.068;0.027	T	0.26155	-1.0111	10	0.46703	T	0.11	.	1.004	0.01483	0.3299:0.1939:0.3279:0.1483	.	76;173;173;173;185;185;185	Q92592;Q92588;Q92593;Q9UEK0;Q53X39;P24071;P24071-4	.;.;.;.;.;FCAR_HUMAN;.	F	185;185;185;76;173;173;173	ENSP00000347714:L185F;ENSP00000375605:L185F;ENSP00000338058:L76F;ENSP00000352218:L173F;ENSP00000375603:L173F;ENSP00000375604:L173F	ENSP00000338058:L76F	L	+	1	0	FCAR	60091377	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.675000	0.05227	-1.175000	0.02751	-1.097000	0.02148	CTC		0.537	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141243.1	NM_002000		8	17	0	0	0	0	8	17				
NLRP2	55655	broad.mit.edu	37	19	55501499	55501499	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:55501499G>T	ENST00000543010.1	+	9	2619	c.2476G>T	c.(2476-2478)Gag>Tag	p.E826*	NLRP2_ENST00000537859.1_Nonsense_Mutation_p.E804*|NLRP2_ENST00000538819.1_Nonsense_Mutation_p.E802*|NLRP2_ENST00000427260.2_Nonsense_Mutation_p.E803*|NLRP2_ENST00000339757.7_Nonsense_Mutation_p.E804*|NLRP2_ENST00000263437.6_Nonsense_Mutation_p.E823*|NLRP2_ENST00000448584.2_Nonsense_Mutation_p.E826*|NLRP2_ENST00000391721.4_Nonsense_Mutation_p.E802*	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	826					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCTTCTGGATGAGGGTGCTAA	0.517																																						uc002qij.2		NA																	0				ovary(1)|skin(1)	2						c.(2476-2478)GAG>TAG		NLR family, pyrin domain containing 2							140.0	115.0	123.0					19																	55501499		2203	4300	6503	SO:0001587	stop_gained	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55501499G>T	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2476G>T	19.37:g.55501499G>T	ENSP00000445135:p.Glu826*					NLRP2_uc010yfp.1_Nonsense_Mutation_p.E803*|NLRP2_uc010esn.2_Nonsense_Mutation_p.E802*|NLRP2_uc010eso.2_Nonsense_Mutation_p.E823*|NLRP2_uc010esp.2_Nonsense_Mutation_p.E804*	p.E826*	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	9	2562	+			826			LRR 1.		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Nonsense_Mutation	SNP	ENST00000543010.1	37	c.2476G>T	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.866321	0.91511	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	.	.	.	2.55	0.401	0.16338	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	4.4949	0.11831	0.3259:0.0:0.6741:0.0	.	.	.	.	X	826;802;804;826;804;803;802;823	.	ENSP00000263437:E823X	E	+	1	0	NLRP2	60193311	0.002000	0.14202	0.023000	0.16930	0.029000	0.11900	0.107000	0.15375	0.165000	0.19558	-0.140000	0.14226	GAG		0.517	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		19	65	1	0	3.71e-20	7.56e-20	19	65				
NLRP9	338321	broad.mit.edu	37	19	56220313	56220313	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:56220313C>G	ENST00000332836.2	-	9	2968	c.2941G>C	c.(2941-2943)Gac>Cac	p.D981H	CTD-2611O12.6_ENST00000600582.1_RNA|CTD-2611O12.8_ENST00000596293.1_RNA|CTD-2611O12.7_ENST00000597680.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	981						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TATTCCTCGTCAATCCAAGGT	0.488																																						uc002qly.2		NA																	0				skin(4)|ovary(2)|breast(1)	7						c.(2941-2943)GAC>CAC		NLR family, pyrin domain containing 9							107.0	103.0	104.0					19																	56220313		2203	4300	6503	SO:0001583	missense	338321					cytoplasm	ATP binding	g.chr19:56220313C>G	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.2941G>C	19.37:g.56220313C>G	ENSP00000331857:p.Asp981His						p.D981H	NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	9	2969	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	981					B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	c.2941G>C	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	C	8.980	0.975215	0.18736	.	.	ENSG00000185792	ENST00000332836	T	0.74106	-0.81	2.65	1.35	0.21983	.	.	.	.	.	T	0.65344	0.2682	L	0.53249	1.67	0.09310	N	1	P	0.43701	0.815	B	0.40285	0.325	T	0.56232	-0.8013	9	0.49607	T	0.09	.	4.4531	0.11630	0.0:0.7532:0.0:0.2468	.	981	Q7RTR0	NALP9_HUMAN	H	981	ENSP00000331857:D981H	ENSP00000331857:D981H	D	-	1	0	NLRP9	60912125	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.201000	0.09464	0.414000	0.25790	0.655000	0.94253	GAC		0.488	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		9	72	0	0	0	0	9	72				
PEG3	5178	broad.mit.edu	37	19	57327825	57327825	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr19:57327825C>A	ENST00000326441.9	-	10	2348	c.1985G>T	c.(1984-1986)tGt>tTt	p.C662F	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.C662F|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.C536F|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.C538F	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	662					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGTTTCCTCACACACTTTACC	0.438																																						uc002qnu.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(1984-1986)TGT>TTT		paternally expressed 3 isoform 1							128.0	128.0	128.0					19																	57327825		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57327825C>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1985G>T	19.37:g.57327825C>A	ENSP00000326581:p.Cys662Phe					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.C633F|PEG3_uc002qnv.2_Missense_Mutation_p.C662F|PEG3_uc002qnw.2_Missense_Mutation_p.C538F|PEG3_uc002qnx.2_Missense_Mutation_p.C536F|PEG3_uc010etr.2_Missense_Mutation_p.C662F	p.C662F	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	2336	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	662					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.1985G>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762183	0.49468	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.20738	2.05;2.05	4.05	1.9	0.25705	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.423937	0.20530	N	0.090536	T	0.23727	0.0574	M	0.81497	2.545	.	.	.	B;B;P	0.34934	0.069;0.417;0.476	B;B;B	0.33254	0.027;0.111;0.16	T	0.31503	-0.9941	9	0.87932	D	0	-9.4033	6.9042	0.24299	0.174:0.73:0.0:0.096	.	538;662;597	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	F	662	ENSP00000326581:C662F;ENSP00000403051:C662F	ENSP00000326581:C662F	C	-	2	0	ZIM2	62019637	0.997000	0.39634	0.060000	0.19600	0.904000	0.53231	3.976000	0.56867	0.660000	0.30964	0.585000	0.79938	TGT		0.438	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			27	91	1	0	1.26e-06	2.4e-06	27	91				
TPO	7173	broad.mit.edu	37	2	1497685	1497685	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr2:1497685A>G	ENST00000345913.4	+	11	1971	c.1880A>G	c.(1879-1881)aAg>aGg	p.K627R	TPO_ENST00000382198.1_Missense_Mutation_p.K454R|TPO_ENST00000337415.3_Missense_Mutation_p.K627R|TPO_ENST00000382201.3_Missense_Mutation_p.K570R|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000349624.3_Missense_Mutation_p.K454R|TPO_ENST00000329066.4_Missense_Mutation_p.K627R|TPO_ENST00000346956.3_Missense_Mutation_p.K627R	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	627					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GACTTGTACAAGCATCCTGAC	0.612																																						uc002qww.2		NA																	0				ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20						c.(1879-1881)AAG>AGG		thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						83.0	80.0	81.0					2																	1497685		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1497685A>G		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1880A>G	2.37:g.1497685A>G	ENSP00000318820:p.Lys627Arg					TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Missense_Mutation_p.K570R|TPO_uc002qwr.2_Missense_Mutation_p.K627R|TPO_uc002qwx.2_Missense_Mutation_p.K570R|TPO_uc010yio.1_Missense_Mutation_p.K454R|TPO_uc010yip.1_Missense_Mutation_p.K627R|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.2_RNA	p.K627R	NM_000547	NP_000538	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	11	1971	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	627			Extracellular (Potential).		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.1880A>G	CCDS1643.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.49|11.49	1.653572|1.653572	0.29425|0.29425	.|.	.|.	ENSG00000115705|ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607|ENST00000446278	T;T;T;T;T;T;T;T;T|.	0.72835|.	-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69|.	4.84|4.84	-2.49|-2.49	0.06403|0.06403	.|.	0.868615|.	0.10714|.	N|.	0.642515|.	T|T	0.36138|0.36138	0.0956|0.0956	L|L	0.35644|0.35644	1.08|1.08	0.09310|0.09310	N|N	1|1	P;B;P;P|.	0.41673|.	0.716;0.359;0.716;0.759|.	P;B;B;P|.	0.49853|.	0.49;0.135;0.386;0.624|.	T|T	0.35871|0.35871	-0.9771|-0.9771	10|5	0.48119|.	T|.	0.1|.	-2.2192|-2.2192	13.5017|13.5017	0.61459|0.61459	0.3443:0.0:0.6557:0.0|0.3443:0.0:0.6557:0.0	.|.	627;454;570;627|.	P07202-4;P07202-5;P07202-2;P07202|.	.;.;.;PERT_HUMAN|.	R|G	627;627;627;454;627;570;454;556;101|102	ENSP00000337263:K627R;ENSP00000318820:K627R;ENSP00000263886:K627R;ENSP00000332044:K454R;ENSP00000329869:K627R;ENSP00000371636:K570R;ENSP00000371633:K454R;ENSP00000405788:K556R;ENSP00000419461:K101R|.	ENSP00000329869:K627R|.	K|S	+|+	2|1	0|0	TPO|TPO	1476692|1476692	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.016000|0.016000	0.09150|0.09150	-0.021000|-0.021000	0.12504|0.12504	-0.640000|-0.640000	0.05495|0.05495	0.459000|0.459000	0.35465|0.35465	AAG|AGC		0.612	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		12	33	0	0	0	0	12	33				
SNRNP200	23020	broad.mit.edu	37	2	96953231	96953231	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr2:96953231C>T	ENST00000323853.5	-	26	3507	c.3430G>A	c.(3430-3432)Gag>Aag	p.E1144K	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1144	SEC63 1.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TTCTTCTTCTCAATCTTCTTC	0.517																																						uc002svu.2		NA																	0				ovary(5)|skin(4)|large_intestine(1)	10						c.(3430-3432)GAG>AAG		activating signal cointegrator 1 complex subunit							175.0	161.0	166.0					2																	96953231		2203	4300	6503	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96953231C>T	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.3430G>A	2.37:g.96953231C>T	ENSP00000317123:p.Glu1144Lys					SNRNP200_uc002svt.2_5'Flank|SNRNP200_uc010yuj.1_5'Flank|SNRNP200_uc002svv.1_5'Flank|SNRNP200_uc002svw.1_Missense_Mutation_p.E216K	p.E1144K	NM_014014	NP_054733	O75643	U520_HUMAN			26	3516	-			1144			SEC63 1.		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.3430G>A	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	C	34	5.341109	0.95783	.	.	ENSG00000144028	ENST00000323853	T	0.62639	0.01	5.17	5.17	0.71159	Sec63 domain (3);	0.000000	0.85682	D	0.000000	T	0.81221	0.4777	M	0.92268	3.29	0.80722	D	1	P	0.43701	0.815	P	0.53722	0.733	D	0.85465	0.1169	10	0.87932	D	0	-26.5443	17.6026	0.88029	0.0:1.0:0.0:0.0	.	1144	O75643	U520_HUMAN	K	1144	ENSP00000317123:E1144K	ENSP00000317123:E1144K	E	-	1	0	SNRNP200	96316958	1.000000	0.71417	0.999000	0.59377	0.776000	0.43924	7.570000	0.82390	2.686000	0.91538	0.462000	0.41574	GAG		0.517	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		31	55	0	0	0	0	31	55				
TTN	7273	broad.mit.edu	37	2	179571656	179571657	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr2:179571656_179571657GG>TT	ENST00000591111.1	-	99	28339_28340	c.28115_28116CC>AA	c.(28114-28116)aCC>aAA	p.T9372K	TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.T9689K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T8445K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	13480	Ig-like 77.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGCTTTCTTGGTTGCTGGGGC	0.396																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(25333-25335)ACC>AAA		titin isoform N2-A																																				SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179571656_179571657GG>TT	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.28115_28116delinsTT	2.37:g.179571656_179571657delinsTT	ENSP00000465570:p.Thr9372Lys					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T5106K	p.T8445K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		98	25558_25559	-			9372					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	DNP	ENST00000591111.1	37	c.25334_25335CC>AA																																																																																					0.396	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	13	0	0	0	0	5	13				
CDK15	65061	broad.mit.edu	37	2	202744779	202744779	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr2:202744779C>A	ENST00000374598.4	+	12	1087	c.1087C>A	c.(1087-1089)Ctg>Atg	p.L363M	CDK15_ENST00000434439.1_Missense_Mutation_p.L363M|CDK15_ENST00000260967.2_Missense_Mutation_p.L312M|CDK15_ENST00000450471.2_Missense_Mutation_p.L363M|CDK15_ENST00000410091.3_Missense_Mutation_p.L312M			Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	363	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	AGCTGAAGACCTGGCCTCCCA	0.507																																						uc002uyt.2		NA																	0				breast(2)|ovary(1)|lung(1)|kidney(1)	5						c.(1087-1089)CTG>ATG		PFTAIRE protein kinase 2	Adenosine triphosphate(DB00171)						66.0	63.0	64.0					2																	202744779		2203	4300	6503	SO:0001583	missense	65061						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding	g.chr2:202744779C>A	AB053308	CCDS2350.1, CCDS58746.1, CCDS58747.1	2q33.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000138395	ENSG00000138395		"""Cyclin-dependent kinases"""	14434	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7"", ""PFTAIRE protein kinase 2"""	ALS2CR7, PFTK2		11586298, 16236519, 19884882	Standard	NM_139158		Approved	PFTAIRE2	uc002uyt.3	Q96Q40	OTTHUMG00000132838	ENST00000374598.4:c.1087C>A	2.37:g.202744779C>A	ENSP00000363726:p.Leu363Met					CDK15_uc002uys.2_Missense_Mutation_p.L312M|CDK15_uc010ftn.1_Missense_Mutation_p.L312M|CDK15_uc002uyu.1_RNA	p.L363M	NM_139158	NP_631897	Q96Q40	CDK15_HUMAN			12	1136	+			363			Protein kinase.		A8K8R9|B8ZZX0|C9J1N8|C9K003|F8W6H8|Q4ZG86|Q53TV1|Q6ZMR9|Q8IUP1	Missense_Mutation	SNP	ENST00000374598.4	37	c.1087C>A		.	.	.	.	.	.	.	.	.	.	C	17.35	3.368648	0.61624	.	.	ENSG00000138395	ENST00000410091;ENST00000260967;ENST00000450471;ENST00000434439;ENST00000374598	T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02	6.06	-1.04	0.10068	.	0.000000	0.64402	D	0.000006	T	0.80623	0.4658	M	0.92507	3.315	0.40345	D	0.97907	D	0.89917	1.0	D	0.91635	0.999	T	0.83062	-0.0147	10	0.59425	D	0.04	-8.6717	12.5587	0.56269	0.0:0.5245:0.0:0.4755	.	363	F8W6H8	.	M	312;312;363;363;363	ENSP00000386901:L312M;ENSP00000260967:L312M;ENSP00000406472:L363M;ENSP00000412775:L363M;ENSP00000363726:L363M	ENSP00000260967:L312M	L	+	1	2	CDK15	202453024	0.061000	0.20836	0.964000	0.40570	0.903000	0.53119	-0.402000	0.07223	-0.042000	0.13535	0.655000	0.94253	CTG		0.507	CDK15-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000336053.2			8	29	1	0	1.11e-13	2.23e-13	8	29				
RNF25	64320	broad.mit.edu	37	2	219528721	219528721	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr2:219528721G>A	ENST00000295704.2	-	10	1779	c.1339C>T	c.(1339-1341)Cgg>Tgg	p.R447W		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	447					positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACTCCCTCCGAGTACCAGGC	0.607																																						uc002vit.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1339-1341)CGG>TGG		ring finger protein 25							55.0	66.0	63.0					2																	219528721		2203	4300	6503	SO:0001583	missense	64320				positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:219528721G>A		CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"""RING-type (C3HC4) zinc fingers"""	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077	ENST00000295704.2:c.1339C>T	2.37:g.219528721G>A	ENSP00000295704:p.Arg447Trp					RNF25_uc010fvw.2_Missense_Mutation_p.R335W	p.R447W	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1427	-		Renal(207;0.0474)	447					A8K0D6|Q53HQ5|Q9H874	Missense_Mutation	SNP	ENST00000295704.2	37	c.1339C>T	CCDS2420.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347138	0.61183	.	.	ENSG00000163481	ENST00000295704	T	0.57907	0.37	5.55	5.55	0.83447	.	0.362547	0.27473	N	0.019205	T	0.46964	0.1420	L	0.29908	0.895	0.19300	N	0.999976	D	0.54397	0.966	P	0.44561	0.453	T	0.50816	-0.8783	10	0.87932	D	0	-9.4689	16.8174	0.85737	0.0:0.0:1.0:0.0	.	447	Q96BH1	RNF25_HUMAN	W	447	ENSP00000295704:R447W	ENSP00000295704:R447W	R	-	1	2	RNF25	219236965	0.104000	0.21937	0.055000	0.19348	0.953000	0.61014	2.758000	0.47565	2.894000	0.99253	0.655000	0.94253	CGG		0.607	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256721.1	NM_022453		9	95	0	0	0	0	9	95				
COL4A4	1286	broad.mit.edu	37	2	227924130	227924130	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr2:227924130C>G	ENST00000396625.3	-	28	2581	c.2374G>C	c.(2374-2376)Ggg>Cgg	p.G792R	COL4A4_ENST00000329662.7_Missense_Mutation_p.G792R	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	792	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCTTCAGCCCCTGGACATCCC	0.537																																						uc010zlt.1		NA																	0				ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11	GRCh37	CM065089	COL4A4	M		c.(2374-2376)GGG>CGG		alpha 4 type IV collagen precursor							145.0	156.0	152.0					2																	227924130		1924	4111	6035	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227924130C>G		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.2374G>C	2.37:g.227924130C>G	ENSP00000379866:p.Gly792Arg						p.G792R	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	28	3028	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	792			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.2374G>C	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.072777	0.55646	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.99637	-6.29;-6.29	5.99	5.99	0.97316	.	.	.	.	.	D	0.99832	0.9924	H	0.98612	4.28	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96959	0.9700	9	0.87932	D	0	.	18.2507	0.90002	0.0:1.0:0.0:0.0	.	792	P53420	CO4A4_HUMAN	R	792	ENSP00000379866:G792R;ENSP00000328553:G792R	ENSP00000328553:G792R	G	-	1	0	COL4A4	227632374	0.991000	0.36638	0.203000	0.23512	0.102000	0.19082	3.981000	0.56902	2.840000	0.97914	0.655000	0.94253	GGG		0.537	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		4	151	0	0	0	0	4	151				
DIS3L2	129563	broad.mit.edu	37	2	233198650	233198650	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr2:233198650G>A	ENST00000409307.1	+	16	2111	c.2111G>A	c.(2110-2112)cGc>cAc	p.R704H	DIS3L2_ENST00000325385.7_Missense_Mutation_p.R704H|DIS3L2_ENST00000273009.6_Intron					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		TCGCCCATCCGCCGCTTTGCC	0.667																																						uc010fxz.2		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(2110-2112)CGC>CAC		DIS3 mitotic control homolog (S.							49.0	56.0	54.0					2																	233198650		2155	4257	6412	SO:0001583	missense	129563						exonuclease activity|ribonuclease activity|RNA binding	g.chr2:233198650G>A	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.2111G>A	2.37:g.233198650G>A	ENSP00000386799:p.Arg704His					DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA|DIS3L2_uc002vsp.1_5'Flank	p.R704H	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)	17	2387	+		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)	704						Missense_Mutation	SNP	ENST00000409307.1	37	c.2111G>A	CCDS42834.1	.	.	.	.	.	.	.	.	.	.	g	35	5.508503	0.96386	.	.	ENSG00000144535	ENST00000325385;ENST00000409307;ENST00000424049	T;T;T	0.74842	-0.88;-0.88;-0.88	4.3	4.3	0.51218	Ribonuclease II/R, conserved site (1);Ribonuclease II/R (2);	0.000000	0.64402	D	0.000001	D	0.92437	0.7599	H	0.99415	4.555	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96063	0.9040	10	0.87932	D	0	-23.2152	16.8176	0.85738	0.0:0.0:1.0:0.0	.	704	Q8IYB7	DI3L2_HUMAN	H	704;704;339	ENSP00000315569:R704H;ENSP00000386799:R704H;ENSP00000415419:R339H	ENSP00000315569:R704H	R	+	2	0	DIS3L2	232906894	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.400000	0.79949	2.130000	0.65690	0.645000	0.84053	CGC		0.667	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383		10	94	0	0	0	0	10	94				
MTERF4	130916	broad.mit.edu	37	2	242035433	242035433	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr2:242035433C>T	ENST00000391980.2	-	4	1184	c.1126G>A	c.(1126-1128)Gac>Aac	p.D376N	MTERFD2_ENST00000406593.1_Missense_Mutation_p.D188N|MTERFD2_ENST00000495694.1_Intron|MTERFD2_ENST00000464344.2_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		376					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	rRNA binding (GO:0019843)			endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		tcgtcgtcgtcctcatcctca	0.483																																						uc002wan.1		NA																	0				ovary(1)	1						c.(1213-1215)GAC>AAC		MTERF domain containing 2							346.0	254.0	285.0					2																	242035433		2203	4300	6503	SO:0001583	missense	130916							g.chr2:242035433C>T																												ENST00000391980.2:c.1126G>A	2.37:g.242035433C>T	ENSP00000375840:p.Asp376Asn					MTERFD2_uc010zoj.1_Missense_Mutation_p.D188N	p.D405N	NM_182501	NP_872307	Q7Z6M4	MTER2_HUMAN		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)	3	1706	-		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	376					A8K6K0|Q9P0E0	Missense_Mutation	SNP	ENST00000391980.2	37	c.1213G>A	CCDS2544.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.399239	0.25291	.	.	ENSG00000122085	ENST00000391980;ENST00000406593	T;T	0.19669	2.13;2.13	1.35	1.35	0.21983	.	0.824587	0.10280	N	0.693589	T	0.10380	0.0254	N	0.08118	0	0.80722	D	1	P	0.41524	0.753	B	0.36534	0.227	T	0.16778	-1.0391	10	0.87932	D	0	-6.9472	8.5793	0.33619	0.0:1.0:0.0:0.0	.	376	Q7Z6M4	MTER2_HUMAN	N	376;188	ENSP00000375840:D376N;ENSP00000384998:D188N	ENSP00000241527:D376N	D	-	1	0	MTERFD2	241684106	0.001000	0.12720	0.004000	0.12327	0.001000	0.01503	0.652000	0.24888	1.047000	0.40274	0.484000	0.47621	GAC		0.483	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323798.4			5	68	0	0	0	0	5	68				
THBD	7056	broad.mit.edu	37	20	23029759	23029759	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr20:23029759T>C	ENST00000377103.2	-	1	619	c.383A>G	c.(382-384)aAt>aGt	p.N128S		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	128	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				blood coagulation (GO:0007596)|female pregnancy (GO:0007565)|leukocyte migration (GO:0050900)|negative regulation of blood coagulation (GO:0030195)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|response to cAMP (GO:0051591)|response to lipopolysaccharide (GO:0032496)|response to X-ray (GO:0010165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)|Ibuprofen(DB01050)	GGGAGCCCCATTGAGGTCGAG	0.677																																						uc002wss.2		NA																	0					0						c.(382-384)AAT>AGT		thrombomodulin precursor	Drotrecogin alfa(DB00055)						19.0	13.0	15.0					20																	23029759		2157	4245	6402	SO:0001583	missense	7056				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity	g.chr20:23029759T>C		CCDS13148.1	20p11.21	2014-09-17			ENSG00000178726	ENSG00000178726		"""CD molecules"""	11784	protein-coding gene	gene with protein product		188040					Standard	NM_000361		Approved	CD141	uc002wss.3	P07204	OTTHUMG00000032053	ENST00000377103.2:c.383A>G	20.37:g.23029759T>C	ENSP00000366307:p.Asn128Ser					THBD_uc002wst.1_5'Flank|THBD_uc002wsu.1_Missense_Mutation_p.N69S	p.N128S	NM_000361	NP_000352	P07204	TRBM_HUMAN			1	543	-	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		128			C-type lectin.|Extracellular (Potential).		Q8IV29|Q9UC32	Missense_Mutation	SNP	ENST00000377103.2	37	c.383A>G	CCDS13148.1	.	.	.	.	.	.	.	.	.	.	T	0.368	-0.935432	0.02340	.	.	ENSG00000178726	ENST00000377103;ENST00000503590	T	0.57107	0.42	5.71	-11.4	0.00090	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	2.613960	0.01834	N	0.034895	T	0.26846	0.0657	L	0.31578	0.945	0.09310	N	1	B	0.13594	0.008	B	0.04013	0.001	T	0.30679	-0.9970	10	0.02654	T	1	-0.0404	3.7344	0.08504	0.153:0.3102:0.3585:0.1783	.	128	P07204	TRBM_HUMAN	S	128;110	ENSP00000366307:N128S	ENSP00000366307:N128S	N	-	2	0	THBD	22977759	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.973000	0.03798	-2.466000	0.00533	-0.491000	0.04670	AAT		0.677	THBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078307.2			3	8	0	0	0	0	3	8				
ACSS2	55902	broad.mit.edu	37	20	33470765	33470765	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr20:33470765A>T	ENST00000360596.2	+	2	558	c.347A>T	c.(346-348)aAg>aTg	p.K116M	ACSS2_ENST00000476922.1_3'UTR|ACSS2_ENST00000253382.5_Missense_Mutation_p.K116M|ACSS2_ENST00000336325.4_Missense_Mutation_p.K66M	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	116					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CATGAGAAAAAGCTTGGAGAT	0.353																																						uc002xbd.2		NA																	0					0						c.(346-348)AAG>ATG		acyl-CoA synthetase short-chain family member 2	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						91.0	86.0	87.0					20																	33470765		2203	4300	6503	SO:0001583	missense	55902				ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding	g.chr20:33470765A>T	AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"""Acyl-CoA synthetase family"""	15814	protein-coding gene	gene with protein product		605832	"""acetyl-Coenzyme A synthetase 2 (ADP forming)"""	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.347A>T	20.37:g.33470765A>T	ENSP00000353804:p.Lys116Met					ACSS2_uc002xbc.2_Missense_Mutation_p.K21M|ACSS2_uc010zum.1_RNA|ACSS2_uc010gey.2_Missense_Mutation_p.K116M|ACSS2_uc002xbe.2_Translation_Start_Site|ACSS2_uc002xbf.2_Missense_Mutation_p.K116M	p.K116M	NM_018677	NP_061147	Q9NR19	ACSA_HUMAN			2	468	+			116					A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Missense_Mutation	SNP	ENST00000360596.2	37	c.347A>T	CCDS13243.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.642442	0.87859	.	.	ENSG00000131069	ENST00000488172;ENST00000336325;ENST00000360596;ENST00000374693;ENST00000484354;ENST00000493805;ENST00000473172;ENST00000253382	T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71	5.97	5.97	0.96955	Acyl-CoA synthase, domain of unknown function DUF3448 (1);	0.045170	0.85682	D	0.000000	T	0.61874	0.2382	L	0.42245	1.32	0.80722	D	1	P;D;P	0.69078	0.953;0.997;0.953	P;D;P	0.77004	0.863;0.989;0.738	T	0.63337	-0.6660	10	0.62326	D	0.03	-17.2035	15.4286	0.75075	1.0:0.0:0.0:0.0	.	116;116;116	Q5QPH3;B4DEH9;Q9NR19	.;.;ACSA_HUMAN	M	66;66;116;116;108;116;116;116	ENSP00000417783:K66M;ENSP00000337190:K66M;ENSP00000353804:K116M;ENSP00000419167:K108M;ENSP00000418812:K116M;ENSP00000419925:K116M;ENSP00000253382:K116M	ENSP00000253382:K116M	K	+	2	0	ACSS2	32934426	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.004000	0.63966	2.285000	0.76669	0.528000	0.53228	AAG		0.353	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078823.3	NM_018677		4	22	0	0	0	0	4	22				
CPNE1	8904	broad.mit.edu	37	20	34214297	34214297	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr20:34214297G>A	ENST00000317619.3	-	18	1874	c.1480C>T	c.(1480-1482)Cgg>Tgg	p.R494W	CPNE1_ENST00000397442.1_Missense_Mutation_p.R438W|CPNE1_ENST00000317677.5_Missense_Mutation_p.R499W|CPNE1_ENST00000397445.1_Missense_Mutation_p.R494W|CPNE1_ENST00000397446.1_Missense_Mutation_p.R494W|CPNE1_ENST00000397443.1_Missense_Mutation_p.R494W|CPNE1_ENST00000352393.4_Missense_Mutation_p.R494W			Q99829	CPNE1_HUMAN	copine I	494	VWFA.				lipid metabolic process (GO:0006629)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			AATGCCTCCCGAGGGGCCTGC	0.572																																						uc002xdf.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(1480-1482)CGG>TGG		copine I isoform a							63.0	73.0	70.0					20																	34214297		2203	4300	6503	SO:0001583	missense	8904				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity	g.chr20:34214297G>A	U83246	CCDS13260.1, CCDS46595.1	20q11.22	2009-06-01			ENSG00000214078	ENSG00000214078			2314	protein-coding gene	gene with protein product		604205				9430674	Standard	NM_152925		Approved	CPN1	uc002xdm.3	Q99829	OTTHUMG00000032356	ENST00000317619.3:c.1480C>T	20.37:g.34214297G>A	ENSP00000326126:p.Arg494Trp					CPNE1_uc002xdc.2_Missense_Mutation_p.R156W|CPNE1_uc010zvj.1_Missense_Mutation_p.R499W|CPNE1_uc002xde.2_Missense_Mutation_p.R470W|CPNE1_uc002xdg.2_Missense_Mutation_p.R438W|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Missense_Mutation_p.R494W|CPNE1_uc002xdi.2_Missense_Mutation_p.R494W|CPNE1_uc002xdj.2_Missense_Mutation_p.R494W|CPNE1_uc002xdk.2_Missense_Mutation_p.R494W|CPNE1_uc002xdl.2_Missense_Mutation_p.R494W|CPNE1_uc002xdm.2_Missense_Mutation_p.R494W	p.R494W	NM_152931	NP_690908	Q99829	CPNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		18	1843	-	Lung NSC(9;0.0053)|all_lung(11;0.00785)		494			VWFA.		E1P5Q4|Q6IBL3|Q9H243|Q9NTZ7	Missense_Mutation	SNP	ENST00000317619.3	37	c.1480C>T	CCDS13260.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.166655	0.38217	.	.	ENSG00000214078	ENST00000352393;ENST00000415920;ENST00000317677;ENST00000317619;ENST00000397446;ENST00000397445;ENST00000397443;ENST00000397442;ENST00000437340	T;T;T;T;T;T;T;T	0.06142	3.47;3.46;3.47;3.47;3.47;3.47;3.48;3.34	5.14	4.14	0.48551	.	.	.	.	.	T	0.06872	0.0175	L	0.34521	1.04	0.39738	D	0.971707	B;B;B;B;B	0.16802	0.015;0.019;0.001;0.005;0.005	B;B;B;B;B	0.12837	0.003;0.008;0.002;0.002;0.002	T	0.21177	-1.0253	9	0.59425	D	0.04	-15.6841	14.0716	0.64863	0.0:0.0:0.849:0.151	.	499;438;494;474;493	B0QZ18;A6PVH9;Q99829;Q59EI4;F2Z2V0	.;.;CPNE1_HUMAN;.;.	W	494;134;499;494;494;494;494;438;493	ENSP00000336945:R494W;ENSP00000317257:R499W;ENSP00000326126:R494W;ENSP00000380588:R494W;ENSP00000380587:R494W;ENSP00000380585:R494W;ENSP00000380584:R438W;ENSP00000415597:R493W	ENSP00000326126:R494W	R	-	1	2	CPNE1	33677711	0.023000	0.18921	0.999000	0.59377	0.974000	0.67602	2.069000	0.41481	2.668000	0.90789	0.462000	0.41574	CGG		0.572	CPNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078909.3	NM_152930		27	67	0	0	0	0	27	67				
MATN4	8785	broad.mit.edu	37	20	43929779	43929779	+	Silent	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr20:43929779C>T	ENST00000372754.1	-	5	983	c.975G>A	c.(973-975)gaG>gaA	p.E325E	MATN4_ENST00000372756.1_Silent_p.E284E|MATN4_ENST00000360607.6_Silent_p.E243E|MATN4_ENST00000372751.4_Silent_p.E135E|MATN4_ENST00000353917.5_Intron|MATN4_ENST00000342716.4_Silent_p.E284E|MATN4_ENST00000537548.1_Silent_p.E284E			O95460	MATN4_HUMAN	matrilin 4	325	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				AGTCATGGCCCTCTCTGCAGT	0.582											OREG0025977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002xnn.2		NA																	0					0						c.(850-852)GAG>GAA		matrilin 4 isoform 1 precursor							70.0	63.0	65.0					20																	43929779		2203	4300	6503	SO:0001819	synonymous_variant	8785					extracellular region	protein binding	g.chr20:43929779C>T	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.975G>A	20.37:g.43929779C>T			OREG0025977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	920	MATN4_uc002xno.2_Silent_p.E243E|MATN4_uc002xnp.2_Intron|MATN4_uc010zwr.1_Silent_p.E232E|MATN4_uc002xnr.1_Silent_p.E284E	p.E284E	NM_003833	NP_003824	O95460	MATN4_HUMAN			5	1039	-		Myeloproliferative disorder(115;0.0122)	325			EGF-like 3.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Silent	SNP	ENST00000372754.1	37	c.852G>A																																																																																					0.582	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1			7	51	0	0	0	0	7	51				
DOPEY2	9980	broad.mit.edu	37	21	37617523	37617523	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr21:37617523G>A	ENST00000399151.3	+	19	3330	c.3245G>A	c.(3244-3246)gGc>gAc	p.G1082D		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1082					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCGCTGCGAGGCGAGCTGAGC	0.632																																						uc002yvg.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(3244-3246)GGC>GAC		pad-1-like							69.0	60.0	63.0					21																	37617523		2203	4300	6503	SO:0001583	missense	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37617523G>A	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.3245G>A	21.37:g.37617523G>A	ENSP00000382104:p.Gly1082Asp					DOPEY2_uc011aeb.1_Missense_Mutation_p.G1031D|DOPEY2_uc002yvh.2_5'UTR	p.G1082D	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN			19	3324	+			1082					D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	c.3245G>A	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	G	0.080	-1.184732	0.01620	.	.	ENSG00000142197	ENST00000399151	T	0.22134	1.97	5.36	2.4	0.29515	.	1.000980	0.08059	N	0.997928	T	0.12987	0.0315	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.25502	-1.0130	10	0.29301	T	0.29	.	4.6893	0.12772	0.2646:0.2553:0.4801:0.0	.	1082;1082	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	D	1082	ENSP00000382104:G1082D	ENSP00000382104:G1082D	G	+	2	0	DOPEY2	36539393	0.019000	0.18553	0.002000	0.10522	0.033000	0.12548	2.247000	0.43151	1.402000	0.46780	0.650000	0.86243	GGC		0.632	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		4	34	0	0	0	0	4	34				
MICAL3	57553	broad.mit.edu	37	22	18384651	18384651	+	Silent	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr22:18384651G>A	ENST00000441493.2	-	5	1036	c.684C>T	c.(682-684)acC>acT	p.T228T	MICAL3_ENST00000429452.1_Silent_p.T228T|MICAL3_ENST00000444520.1_Silent_p.T228T|MICAL3_ENST00000585038.1_Silent_p.T228T|MICAL3_ENST00000414725.2_Silent_p.T228T|MICAL3_ENST00000400561.2_Silent_p.T228T|MICAL3_ENST00000383094.3_Silent_p.T228T|MICAL3_ENST00000207726.7_Silent_p.T228T	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	228	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TACCTTCCAAGGTGTTCCTCC	0.562																																						uc002zng.3		NA																	0					0						c.(682-684)ACC>ACT		microtubule associated monoxygenase, calponin							74.0	64.0	67.0					22																	18384651		1568	3582	5150	SO:0001819	synonymous_variant	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18384651G>A	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.684C>T	22.37:g.18384651G>A						MICAL3_uc011agl.1_Silent_p.T228T|MICAL3_uc002znh.2_Silent_p.T228T|MICAL3_uc002znj.1_5'UTR|MICAL3_uc002znk.1_Silent_p.T228T|MICAL3_uc002znl.1_5'UTR|MICAL3_uc010grf.2_Silent_p.T228T|MICAL3_uc011agm.1_Silent_p.T228T	p.T228T	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	5	1037	-		all_epithelial(15;0.198)	228					B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Silent	SNP	ENST00000441493.2	37	c.684C>T	CCDS46659.1																																																																																				0.562	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			6	29	0	0	0	0	6	29				
HIRA	7290	broad.mit.edu	37	22	19344526	19344526	+	Silent	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr22:19344526G>T	ENST00000263208.5	-	19	2539	c.2283C>A	c.(2281-2283)tcC>tcA	p.S761S	HIRA_ENST00000546308.1_Silent_p.S717S|HIRA_ENST00000541063.1_Silent_p.S717S|HIRA_ENST00000340170.4_Intron	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	761	Interaction with PAX3. {ECO:0000250}.|Interaction with histone H2B.|Interaction with histone H4.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GACCACAGGTGGAGAACACTG	0.592																																						uc002zpf.1		NA																	0				ovary(1)	1						c.(2281-2283)TCC>TCA		HIR histone cell cycle regulation defective							301.0	233.0	256.0					22																	19344526		2203	4300	6503	SO:0001819	synonymous_variant	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19344526G>T	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.2283C>A	22.37:g.19344526G>T						HIRA_uc011agx.1_Silent_p.S627S|HIRA_uc010grn.1_Intron|HIRA_uc010gro.1_Silent_p.S717S|HIRA_uc010grp.2_RNA	p.S761S	NM_003325	NP_003316	P54198	HIRA_HUMAN			19	2503	-	Colorectal(54;0.0993)		761			Interaction with PAX3 (By similarity).|Interaction with histone H2B.|Interaction with histone H4.		Q05BU9|Q8IXN2	Silent	SNP	ENST00000263208.5	37	c.2283C>A	CCDS13759.1																																																																																				0.592	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		15	166	1	0	1.15e-07	2.2e-07	15	166				
GGT5	2687	broad.mit.edu	37	22	24640644	24640644	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr22:24640644C>G	ENST00000327365.4	-	1	466	c.50G>C	c.(49-51)gGg>gCg	p.G17A	GGT5_ENST00000418439.2_Missense_Mutation_p.G17A|GGT5_ENST00000398292.3_Missense_Mutation_p.G17A|GGT5_ENST00000263112.7_Missense_Mutation_p.G17A	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	17					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						CAGCGCCAGCCCCAGACCCAG	0.706																																						uc002zzo.3		NA																	0				ovary(2)|skin(1)	3						c.(49-51)GGG>GCG		gamma-glutamyltransferase 5 isoform b							22.0	25.0	24.0					22																	24640644		2202	4298	6500	SO:0001583	missense	2687				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr22:24640644C>G	M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"""Gamma-glutamyltransferases"""	4260	protein-coding gene	gene with protein product		137168	"""gamma-glutamyltransferase-like activity 1"""	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.50G>C	22.37:g.24640644C>G	ENSP00000330080:p.Gly17Ala					GGT5_uc002zzp.3_Missense_Mutation_p.G17A|GGT5_uc002zzr.3_Missense_Mutation_p.G17A|GGT5_uc002zzq.3_Missense_Mutation_p.G17A|GGT5_uc011ajm.1_Missense_Mutation_p.G17A|GGT5_uc011ajn.1_RNA	p.G17A	NM_004121	NP_004112	P36269	GGT5_HUMAN			1	467	-			17			Helical; Signal-anchor for type II membrane protein; (Potential).		Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Missense_Mutation	SNP	ENST00000327365.4	37	c.50G>C	CCDS13825.1	.	.	.	.	.	.	.	.	.	.	.	3.742	-0.053374	0.07362	.	.	ENSG00000099998	ENST00000327365;ENST00000263112;ENST00000398292;ENST00000418439;ENST00000424217	T;T;T;T;T	0.51325	3.75;3.73;3.75;3.49;0.71	2.85	-0.966	0.10320	.	0.672860	0.12188	N	0.491520	T	0.28764	0.0713	L	0.38175	1.15	0.09310	N	1	B;B;B;B;B	0.17465	0.009;0.022;0.013;0.013;0.013	B;B;B;B;B	0.15052	0.005;0.012;0.005;0.005;0.005	T	0.26087	-1.0113	10	0.10902	T	0.67	-37.5588	5.1086	0.14796	0.4199:0.3744:0.2057:0.0	.	17;17;17;17;17	E7EUG3;P36269-2;Q53XM9;Q6GMP0;P36269	.;.;.;.;GGT5_HUMAN	A	17	ENSP00000330080:G17A;ENSP00000263112:G17A;ENSP00000381340:G17A;ENSP00000392146:G17A;ENSP00000412964:G17A	ENSP00000263112:G17A	G	-	2	0	GGT5	22970644	0.007000	0.16637	0.105000	0.21289	0.041000	0.13682	-0.454000	0.06770	-0.081000	0.12662	0.505000	0.49811	GGG		0.706	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121		3	34	0	0	0	0	3	34				
DEPDC5	9681	broad.mit.edu	37	22	32198787	32198787	+	Silent	SNP	A	A	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr22:32198787A>T	ENST00000382112.3	+	14	1114	c.1044A>T	c.(1042-1044)ctA>ctT	p.L348L	DEPDC5_ENST00000400248.2_Silent_p.L348L|DEPDC5_ENST00000400249.2_Silent_p.L348L|DEPDC5_ENST00000382111.2_Silent_p.L348L|DEPDC5_ENST00000400246.1_Silent_p.L348L|DEPDC5_ENST00000535622.1_Silent_p.L348L|DEPDC5_ENST00000400242.3_Silent_p.L348L|DEPDC5_ENST00000536766.1_Silent_p.L320L|DEPDC5_ENST00000382105.2_Silent_p.L348L|DEPDC5_ENST00000266091.3_Silent_p.L348L	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	348					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGGACCGCCTACTCATGATCC	0.502																																						uc003als.2		NA																	0				ovary(4)|central_nervous_system(3)|pancreas(1)	8						c.(1042-1044)CTA>CTT		DEP domain containing 5 isoform 1							176.0	171.0	173.0					22																	32198787		2021	4193	6214	SO:0001819	synonymous_variant	9681				intracellular signal transduction			g.chr22:32198787A>T	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.1044A>T	22.37:g.32198787A>T						DEPDC5_uc011als.1_Silent_p.L348L|DEPDC5_uc011alu.1_Silent_p.L348L|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Silent_p.L348L|DEPDC5_uc003alr.1_Silent_p.L348L|DEPDC5_uc011alt.1_Silent_p.L320L	p.L348L	NM_014662	NP_055477	O75140	DEPD5_HUMAN			15	1186	+			348					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Silent	SNP	ENST00000382112.3	37	c.1044A>T	CCDS46692.1																																																																																				0.502	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		21	56	0	0	0	0	21	56				
MEI1	150365	broad.mit.edu	37	22	42128529	42128529	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr22:42128529G>A	ENST00000401548.3	+	11	1293	c.1253G>A	c.(1252-1254)cGt>cAt	p.R418H	MEI1_ENST00000540833.1_Missense_Mutation_p.R158H|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_5'UTR	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GATGCTGGCCGTGCCCTCCAA	0.552																																						uc003baz.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1252-1254)CGT>CAT		meiosis defective 1							67.0	69.0	68.0					22																	42128529		2097	4239	6336	SO:0001583	missense	150365						binding	g.chr22:42128529G>A	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.1253G>A	22.37:g.42128529G>A	ENSP00000384115:p.Arg418His					WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc003bay.3_Missense_Mutation_p.R418H|MEI1_uc011apd.1_RNA	p.R418H	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN			11	1278	+			418						Missense_Mutation	SNP	ENST00000401548.3	37	c.1253G>A	CCDS46718.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.504137	0.26949	.	.	ENSG00000167077	ENST00000401548;ENST00000540833	T;T	0.04758	3.56;3.56	5.74	1.44	0.22558	Armadillo-like helical (1);Armadillo-type fold (1);	0.546453	0.19082	N	0.123216	T	0.04770	0.0129	L	0.54323	1.7	0.29918	N	0.822999	B;B	0.10296	0.002;0.003	B;B	0.08055	0.002;0.003	T	0.34900	-0.9810	10	0.14656	T	0.56	-6.0798	7.1705	0.25717	0.5102:0.0:0.4898:0.0	.	418;418	Q5TIA1;Q5TIA1-4	MEI1_HUMAN;.	H	418;158	ENSP00000384115:R418H;ENSP00000444225:R158H	ENSP00000384115:R418H	R	+	2	0	MEI1	40458475	0.001000	0.12720	0.965000	0.40720	0.561000	0.35649	0.004000	0.13106	0.387000	0.25024	-0.972000	0.02603	CGT		0.552	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		23	39	0	0	0	0	23	39				
PLXNB2	23654	broad.mit.edu	37	22	50727541	50727541	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr22:50727541C>T	ENST00000449103.1	-	4	1239	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	PLXNB2_ENST00000359337.4_Missense_Mutation_p.E367K|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	367	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGCAGGTGCTCCGAGCCACAT	0.692																																						uc003bkv.3		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1099-1101)GAG>AAG		plexin B2 precursor							9.0	11.0	11.0					22																	50727541		2054	4179	6233	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50727541C>T		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.1099G>A	22.37:g.50727541C>T	ENSP00000409171:p.Glu367Lys						p.E367K	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	4	1205	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	367			Extracellular (Potential).|Sema.		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.1099G>A	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	C	34	5.303961	0.95601	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000414275;ENST00000411680;ENST00000432455	T;T;T;T	0.04758	3.56;3.56;3.56;3.56	4.58	4.58	0.56647	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.235460	0.29218	N	0.012793	T	0.16811	0.0404	M	0.80422	2.495	0.80722	D	1	P	0.47253	0.892	P	0.55222	0.771	T	0.16808	-1.0390	10	0.13470	T	0.59	.	17.5553	0.87888	0.0:1.0:0.0:0.0	.	367	O15031	PLXB2_HUMAN	K	367;367;367;26;367	ENSP00000409171:E367K;ENSP00000352288:E367K;ENSP00000400679:E26K;ENSP00000392620:E367K	ENSP00000352288:E367K	E	-	1	0	PLXNB2	49069668	1.000000	0.71417	0.998000	0.56505	0.772000	0.43724	5.355000	0.66046	2.380000	0.81148	0.561000	0.74099	GAG		0.692	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		7	9	0	0	0	0	7	9				
GNL3	26354	broad.mit.edu	37	3	52723170	52723170	+	Silent	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:52723170G>A	ENST00000418458.1	+	6	662	c.489G>A	c.(487-489)gaG>gaA	p.E163E	SNORD19_ENST00000391191.1_RNA|SNORD19_ENST00000410413.1_RNA|SNORD19B_ENST00000459623.1_RNA|GNL3_ENST00000394799.2_Silent_p.E151E|SNORD19B_ENST00000516978.1_RNA	NM_014366.4|NM_206826.1	NP_055181.3|NP_996562.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	163	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				cell proliferation (GO:0008283)|GTP catabolic process (GO:0006184)|regulation of cell proliferation (GO:0042127)|ribosome biogenesis (GO:0042254)	extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		AGGTAGAAGAGGCCATTGTCC	0.448																																						uc003dfd.2		NA																	0					0						c.(487-489)GAG>GAA		guanine nucleotide binding protein-like 3							164.0	162.0	163.0					3																	52723170		2203	4300	6503	SO:0001819	synonymous_variant	26354				regulation of cell proliferation	nucleolus	GTP binding|protein binding	g.chr3:52723170G>A	AK027514	CCDS2861.1, CCDS43100.1	3p21.1	2005-01-10			ENSG00000163938	ENSG00000163938			29931	protein-coding gene	gene with protein product		608011				11085516, 12464630	Standard	NM_014366		Approved	C77032, E2IG3, MGC800, NS, nucleostemin	uc003dfd.3	Q9BVP2	OTTHUMG00000158752	ENST00000418458.1:c.489G>A	3.37:g.52723170G>A						GNL3_uc011beh.1_RNA|GNL3_uc003dfe.2_Silent_p.E151E|GNL3_uc003dff.2_Silent_p.E151E|SNORD19_uc003dfg.1_5'Flank|SNORD19B_uc010hml.1_5'Flank	p.E163E	NM_014366	NP_055181	Q9BVP2	GNL3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)	6	662	+			163					B2RDC1|Q5PU80|Q96SV6|Q96SV7|Q9UJY0	Silent	SNP	ENST00000418458.1	37	c.489G>A	CCDS2861.1																																																																																				0.448	GNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352032.1	NM_014366		13	83	0	0	0	0	13	83				
ZNF654	55279	broad.mit.edu	37	3	88188518	88188518	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:88188518C>T	ENST00000309495.5	+	1	265	c.58C>T	c.(58-60)Cag>Tag	p.Q20*	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	20					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(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		CCAGGCTCATCAGAAAAAAGG	0.383																																						uc003dqv.2		NA																	0				ovary(1)	1						c.(58-60)CAG>TAG		zinc finger protein 654							94.0	90.0	91.0					3																	88188518		1894	4114	6008	SO:0001587	stop_gained	55279				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:88188518C>T	AF543494	CCDS46874.1	3p11.1	2005-01-10			ENSG00000175105	ENSG00000175105			25612	protein-coding gene	gene with protein product							Standard	NM_018293		Approved	FLJ10997, FLJ21142	uc003dqv.3	Q8IZM8	OTTHUMG00000159097	ENST00000309495.5:c.58C>T	3.37:g.88188518C>T	ENSP00000312141:p.Gln20*					CGGBP1_uc003dqu.2_Intron	p.Q20*	NM_018293	NP_060763	Q8IZM8	ZN654_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	1	257	+		Lung NSC(201;0.0283)	20					Q9H791|Q9NV14	Nonsense_Mutation	SNP	ENST00000309495.5	37	c.58C>T	CCDS46874.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297206	0.81025	.	.	ENSG00000175105	ENST00000309495	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	18.3632	0.90382	0.0:1.0:0.0:0.0	.	.	.	.	X	20	.	ENSP00000312141:Q20X	Q	+	1	0	ZNF654	88271208	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.281000	0.51685	2.576000	0.86940	0.549000	0.68633	CAG		0.383	ZNF654-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353285.2	NM_018293		10	21	0	0	0	0	10	21				
CEP97	79598	broad.mit.edu	37	3	101476483	101476483	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:101476483G>A	ENST00000341893.3	+	9	1785	c.1033G>A	c.(1033-1035)Gtc>Atc	p.V345I	CEP97_ENST00000327230.4_Missense_Mutation_p.V345I|CEP97_ENST00000494050.1_Intron			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	345	CCP110-binding.				cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						TCTAGAACCCGTCATTCAAGT	0.323																																						uc003dvk.1		NA																	0				ovary(2)	2						c.(1033-1035)GTC>ATC		centrosomal protein 97kDa							52.0	52.0	52.0					3																	101476483		2203	4300	6503	SO:0001583	missense	79598					centrosome|nucleus	protein binding	g.chr3:101476483G>A	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.1033G>A	3.37:g.101476483G>A	ENSP00000342510:p.Val345Ile					CEP97_uc010hpm.1_Missense_Mutation_p.V311I|CEP97_uc011bhf.1_Intron|CEP97_uc003dvl.1_Missense_Mutation_p.V41I|CEP97_uc003dvm.1_Missense_Mutation_p.V183I	p.V345I	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN			9	1060	+			345			CEP110 binding.		B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	ENST00000341893.3	37	c.1033G>A	CCDS2944.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.800196	0.31869	.	.	ENSG00000182504	ENST00000341893;ENST00000327230	T;T	0.56103	0.48;0.51	5.04	2.96	0.34315	.	0.316217	0.34025	N	0.004330	T	0.42787	0.1218	M	0.61703	1.905	0.28599	N	0.909275	B;B	0.26845	0.161;0.059	B;B	0.20955	0.032;0.014	T	0.32241	-0.9914	10	0.28530	T	0.3	-1.5366	5.7472	0.18126	0.1723:0.0:0.6643:0.1634	.	345;345	Q8IW35-2;Q8IW35	.;CEP97_HUMAN	I	345	ENSP00000342510:V345I;ENSP00000325881:V345I	ENSP00000325881:V345I	V	+	1	0	CEP97	102959173	0.389000	0.25205	0.993000	0.49108	0.932000	0.56968	0.753000	0.26376	0.346000	0.23899	0.313000	0.20887	GTC		0.323	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548		10	45	0	0	0	0	10	45				
CD200R1	131450	broad.mit.edu	37	3	112648206	112648206	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:112648206C>G	ENST00000471858.1	-	3	514	c.282G>C	c.(280-282)gaG>gaC	p.E94D	CD200R1_ENST00000308611.3_Missense_Mutation_p.E117D|CD200R1_ENST00000295863.4_Missense_Mutation_p.E72D|CD200R1_ENST00000440122.2_Missense_Mutation_p.E117D|CD200R1_ENST00000490004.1_Missense_Mutation_p.E94D	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	94	Ig-like V-type.				regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						TTTCCTTGGTCTCATTTGTTT	0.448																																						uc003dzk.1		NA																	0				ovary(2)|pancreas(1)	3						c.(280-282)GAG>GAC		CD200 receptor 1 isoform d							177.0	169.0	172.0					3																	112648206		2203	4300	6503	SO:0001583	missense	131450				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr3:112648206C>G	AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"""Immunoglobulin superfamily / C2-set domain containing"""	24235	protein-coding gene	gene with protein product		607546	"""MOX2 receptor"""	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.282G>C	3.37:g.112648206C>G	ENSP00000418928:p.Glu94Asp					CD200R1_uc003dzj.1_Missense_Mutation_p.E117D|CD200R1_uc011bhx.1_Missense_Mutation_p.E72D|CD200R1_uc003dzl.1_Missense_Mutation_p.E117D|CD200R1_uc003dzm.1_Missense_Mutation_p.E94D	p.E94D	NM_170780	NP_740750	Q8TD46	MO2R1_HUMAN			3	515	-			94			Ig-like V-type.|Extracellular (Potential).		B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	SNP	ENST00000471858.1	37	c.282G>C	CCDS2970.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.813611	0.50527	.	.	ENSG00000163606	ENST00000471858;ENST00000308611;ENST00000295863;ENST00000440122;ENST00000490004	T;T;T;T;T	0.09163	3.01;3.01;3.01;3.01;3.01	5.36	2.13	0.27403	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.205650	0.05631	N	0.581721	T	0.18923	0.0454	M	0.66939	2.045	0.09310	N	1	B;B;D;P;B	0.54964	0.091;0.081;0.969;0.816;0.189	B;B;P;B;B	0.53401	0.032;0.093;0.725;0.307;0.131	T	0.20042	-1.0287	10	0.25751	T	0.34	.	2.4745	0.04572	0.1989:0.5019:0.1919:0.1072	.	72;94;117;94;117	B4E2U2;Q8TD46-3;Q8TD46-2;Q8TD46;Q8TD46-4	.;.;.;MO2R1_HUMAN;.	D	94;117;72;117;94	ENSP00000418928:E94D;ENSP00000311035:E117D;ENSP00000295863:E72D;ENSP00000405733:E117D;ENSP00000418801:E94D	ENSP00000295863:E72D	E	-	3	2	CD200R1	114130896	0.027000	0.19231	0.276000	0.24689	0.469000	0.32828	1.299000	0.33424	1.224000	0.43551	0.557000	0.71058	GAG		0.448	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354467.1	NM_138806		8	109	0	0	0	0	8	109				
KIAA2018	205717	broad.mit.edu	37	3	113375488	113375488	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:113375488A>G	ENST00000478658.1	-	5	5058	c.5041T>C	c.(5041-5043)Tca>Cca	p.S1681P	KIAA2018_ENST00000316407.4_Missense_Mutation_p.S1681P|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1681						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CTCTGCTCTGAATTAGAAGAT	0.413																																						uc003eam.2		NA																	0				skin(2)|ovary(1)	3						c.(5041-5043)TCA>CCA		hypothetical protein LOC205717							131.0	122.0	125.0					3																	113375488		1861	4115	5976	SO:0001583	missense	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113375488A>G	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.5041T>C	3.37:g.113375488A>G	ENSP00000420721:p.Ser1681Pro					KIAA2018_uc003eal.2_Missense_Mutation_p.S1625P	p.S1681P	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN			7	5452	-			1681					Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	c.5041T>C	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	A	15.12	2.740140	0.49045	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.18338	2.22;2.22	5.7	5.7	0.88788	.	0.171732	0.41500	D	0.000863	T	0.29524	0.0736	L	0.27053	0.805	0.50313	D	0.999861	D	0.76494	0.999	D	0.68765	0.96	T	0.03717	-1.1010	10	0.62326	D	0.03	-13.4773	15.9735	0.80040	1.0:0.0:0.0:0.0	.	1681	Q68DE3	K2018_HUMAN	P	1681	ENSP00000320794:S1681P;ENSP00000420721:S1681P	ENSP00000320794:S1681P	S	-	1	0	KIAA2018	114858178	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.156000	0.64905	2.159000	0.67721	0.533000	0.62120	TCA		0.413	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		100	38	0	0	0	0	100	38				
EAF2	55840	broad.mit.edu	37	3	121563320	121563320	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:121563320A>G	ENST00000273668.2	+	2	198	c.127A>G	c.(127-129)Att>Gtt	p.I43V	EAF2_ENST00000451944.2_Missense_Mutation_p.I43V	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	43	Necessary for interaction with ELL.				apoptotic process (GO:0006915)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	ELL-EAF complex (GO:0032783)|transcription elongation factor complex (GO:0008023)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		ACCTGCTTCTATTGACACTTC	0.318																																					Esophageal Squamous(194;1942 2097 24663 29345 31866)	uc003een.2		NA																	0					0						c.(127-129)ATT>GTT		ELL associated factor 2							117.0	120.0	119.0					3																	121563320		2203	4300	6503	SO:0001583	missense	55840				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding	g.chr3:121563320A>G	AF517829	CCDS3006.1	3q21.1	2007-08-01			ENSG00000145088	ENSG00000145088			23115	protein-coding gene	gene with protein product		607659				12446457, 12907652	Standard	NM_018456		Approved	BM040, TRAITS, U19	uc003een.3	Q96CJ1	OTTHUMG00000159424	ENST00000273668.2:c.127A>G	3.37:g.121563320A>G	ENSP00000273668:p.Ile43Val					EAF2_uc003eeo.2_5'UTR	p.I43V	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN		GBM - Glioblastoma multiforme(114;0.0972)	2	226	+			43			Necessary for interaction with ELL.		Q9NZ82	Missense_Mutation	SNP	ENST00000273668.2	37	c.127A>G	CCDS3006.1	.	.	.	.	.	.	.	.	.	.	A	6.532	0.466387	0.12402	.	.	ENSG00000145088	ENST00000273668;ENST00000451944	.	.	.	5.36	1.47	0.22746	Transcription elognation factor  Eaf, N-terminal (1);	0.096969	0.64402	N	0.000002	T	0.39118	0.1066	L	0.31476	0.935	0.48632	D	0.999687	B	0.11235	0.004	B	0.20184	0.028	T	0.08207	-1.0733	9	0.18710	T	0.47	-8.079	7.6451	0.28315	0.7113:0.0:0.2887:0.0	.	43	Q96CJ1	EAF2_HUMAN	V	43	.	ENSP00000273668:I43V	I	+	1	0	EAF2	123046010	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.857000	0.55972	0.269000	0.21961	0.477000	0.44152	ATT		0.318	EAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355247.1	NM_018456		12	85	0	0	0	0	12	85				
PARP15	165631	broad.mit.edu	37	3	122345843	122345843	+	Silent	SNP	A	A	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:122345843A>G	ENST00000464300.2	+	9	1467	c.1401A>G	c.(1399-1401)gcA>gcG	p.A467A	PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000483793.1_Intron|PARP15_ENST00000493645.1_Intron|PARP15_ENST00000310366.4_Silent_p.A233A	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	467					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		ACCTCTCTGCATCACTGAACT	0.353																																						uc003efm.2		NA																	0				lung(3)|upper_aerodigestive_tract(1)|ovary(1)	5						c.(1399-1401)GCA>GCG		poly (ADP-ribose) polymerase family, member 15							84.0	82.0	82.0					3																	122345843		2203	4300	6503	SO:0001819	synonymous_variant	165631				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity	g.chr3:122345843A>G	AK097916	CCDS3016.1, CCDS46893.1	3q21	2010-02-16			ENSG00000173200	ENSG00000173200		"""Poly (ADP-ribose) polymerases"""	26876	protein-coding gene	gene with protein product		612066				15273990	Standard	NM_001113523		Approved	FLJ40597, pART7	uc003efm.2	Q460N3	OTTHUMG00000159523	ENST00000464300.2:c.1401A>G	3.37:g.122345843A>G						PARP15_uc003efn.2_Intron|PARP15_uc003efo.1_Silent_p.A214A|PARP15_uc003efp.1_Silent_p.A233A|PARP15_uc011bjt.1_Intron	p.A467A	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	9	1467	+			445					J3KR47|Q8N1K3	Silent	SNP	ENST00000464300.2	37	c.1401A>G	CCDS46893.1																																																																																				0.353	PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355964.2	NM_152615		8	47	0	0	0	0	8	47				
STAG1	10274	broad.mit.edu	37	3	136221571	136221571	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:136221571G>T	ENST00000383202.2	-	8	983	c.727C>A	c.(727-729)Cat>Aat	p.H243N	STAG1_ENST00000236698.5_Missense_Mutation_p.H243N|STAG1_ENST00000434713.2_Missense_Mutation_p.H17N	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	243					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TTATCCTGATGAATACTGAGG	0.363																																						uc003era.1		NA																	0				ovary(2)	2						c.(727-729)CAT>AAT		stromal antigen 1							109.0	102.0	104.0					3																	136221571		2203	4300	6503	SO:0001583	missense	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136221571G>T	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.727C>A	3.37:g.136221571G>T	ENSP00000372689:p.His243Asn					STAG1_uc003erb.1_Missense_Mutation_p.H243N|STAG1_uc003erc.1_Missense_Mutation_p.H17N|STAG1_uc010hua.1_Missense_Mutation_p.H106N|STAG1_uc003erd.2_Missense_Mutation_p.H146N	p.H243N	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN			8	1019	-			243					O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	37	c.727C>A	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	G	5.050	0.194851	0.09599	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713	T;T;T	0.39592	1.07;1.07;1.07	5.67	5.67	0.87782	STAG (1);Armadillo-type fold (1);	0.049105	0.85682	D	0.000000	T	0.25195	0.0612	N	0.10837	0.055	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.11329	0.004;0.006;0.004	T	0.16958	-1.0385	10	0.02654	T	1	.	19.7542	0.96283	0.0:0.0:1.0:0.0	.	260;243;243	Q4LE48;Q6P275;Q8WVM7	.;.;STAG1_HUMAN	N	243;243;17	ENSP00000372689:H243N;ENSP00000236698:H243N;ENSP00000404396:H17N	ENSP00000236698:H243N	H	-	1	0	STAG1	137704261	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.717000	0.54911	2.677000	0.91161	0.491000	0.48974	CAT		0.363	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		9	60	1	0	5.49e-09	1.07e-08	9	60				
ATR	545	broad.mit.edu	37	3	142278147	142278147	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:142278147C>T	ENST00000350721.4	-	7	1799	c.1678G>A	c.(1678-1680)Gag>Aag	p.E560K	ATR_ENST00000383101.3_Missense_Mutation_p.E496K	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	560					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ATGGTTGCCTCCAGGTCCAGT	0.348								Other conserved DNA damage response genes																														uc003eux.3		NA																	0				lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.(1678-1680)GAG>AAG	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein							110.0	109.0	109.0					3																	142278147		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142278147C>T	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.1678G>A	3.37:g.142278147C>T	ENSP00000343741:p.Glu560Lys						p.E560K	NM_001184	NP_001175	Q13535	ATR_HUMAN			7	1800	-			560					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.1678G>A	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177235	0.57692	.	.	ENSG00000175054	ENST00000350721;ENST00000383101;ENST00000515149	T;T	0.03124	4.04;4.07	6.07	5.2	0.72013	Armadillo-type fold (1);	0.482940	0.23291	N	0.049783	T	0.04363	0.0120	L	0.29908	0.895	0.33496	D	0.58935	B	0.30406	0.278	B	0.27887	0.084	T	0.18241	-1.0343	10	0.51188	T	0.08	-7.6512	15.8494	0.78916	0.0:0.8652:0.1348:0.0	.	560	Q13535	ATR_HUMAN	K	560;496;177	ENSP00000343741:E560K;ENSP00000372581:E496K	ENSP00000343741:E560K	E	-	1	0	ATR	143760837	0.995000	0.38212	0.562000	0.28370	0.986000	0.74619	2.594000	0.46189	1.555000	0.49500	0.655000	0.94253	GAG		0.348	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		7	47	0	0	0	0	7	47				
PLD1	5337	broad.mit.edu	37	3	171451288	171451288	+	Silent	SNP	T	T	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:171451288T>C	ENST00000351298.4	-	6	678	c.552A>G	c.(550-552)gaA>gaG	p.E184E	PLD1_ENST00000340989.4_Silent_p.E184E|PLD1_ENST00000356327.5_Silent_p.E184E|PLD1_ENST00000342215.6_Silent_p.E184E	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	184	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TCAAGTAATCTTCCAGTTGTT	0.284																																					NSCLC(149;2174 3517 34058)	uc003fhs.2		NA																	0				ovary(2)|lung(1)	3						c.(550-552)GAA>GAG		phospholipase D1 isoform a	Choline(DB00122)						125.0	125.0	125.0					3																	171451288		2200	4296	6496	SO:0001819	synonymous_variant	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171451288T>C	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.552A>G	3.37:g.171451288T>C						PLD1_uc003fht.2_Silent_p.E184E	p.E184E	NM_002662	NP_002653	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		6	668	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		184			PX.			Silent	SNP	ENST00000351298.4	37	c.552A>G	CCDS3216.1																																																																																				0.284	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		4	37	0	0	0	0	4	37				
MFN1	55669	broad.mit.edu	37	3	179082171	179082171	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:179082171C>G	ENST00000471841.1	+	6	749	c.623C>G	c.(622-624)tCt>tGt	p.S208C	MFN1_ENST00000280653.7_Missense_Mutation_p.S208C|MFN1_ENST00000263969.5_Missense_Mutation_p.S208C	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	208	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GTCGCAAACTCTGAATCAACA	0.373																																						uc003fjs.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(622-624)TCT>TGT		mitofusin 1							128.0	120.0	122.0					3																	179082171		2203	4300	6503	SO:0001583	missense	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179082171C>G	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.623C>G	3.37:g.179082171C>G	ENSP00000420617:p.Ser208Cys					MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.S236C|MFN1_uc010hxc.2_Missense_Mutation_p.S61C	p.S208C	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		6	749	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		208			Cytoplasmic (Potential).		B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	ENST00000471841.1	37	c.623C>G	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791129	0.70452	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000263969;ENST00000489329;ENST00000474903	D;D;D;D;D	0.96967	-3.77;-3.77;-3.77;-4.19;-4.19	5.24	5.24	0.73138	Dynamin, GTPase domain (1);	0.000000	0.85682	D	0.000000	D	0.97983	0.9336	M	0.77486	2.375	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.71656	0.935;0.974;0.974	D	0.98294	1.0515	10	0.56958	D	0.05	-12.7361	19.1856	0.93642	0.0:1.0:0.0:0.0	.	208;236;208	Q8IWA4-3;Q4AEJ4;Q8IWA4	.;.;MFN1_HUMAN	C	208;208;208;208;61;71	ENSP00000420617:S208C;ENSP00000280653:S208C;ENSP00000263969:S208C;ENSP00000420148:S61C;ENSP00000419926:S71C	ENSP00000263969:S208C	S	+	2	0	MFN1	180564865	1.000000	0.71417	0.985000	0.45067	0.971000	0.66376	7.440000	0.80464	2.611000	0.88343	0.650000	0.86243	TCT		0.373	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		3	36	0	0	0	0	3	36				
LAMP3	27074	broad.mit.edu	37	3	182871533	182871533	+	Silent	SNP	G	G	A	rs140803277	byFrequency	TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:182871533G>A	ENST00000265598.3	-	2	951	c.696C>T	c.(694-696)aaC>aaT	p.N232N	LAMP3_ENST00000466939.1_Silent_p.N208N	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	232					cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			GTCTGCTTCCGTTTAGAACCT	0.502													A|||	3	0.000599042	0.0	0.0	5008	,	,		17458	0.001		0.0	False		,,,				2504	0.002					uc003flh.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(694-696)AAC>AAT		lysosomal-associated membrane protein 3							104.0	99.0	101.0					3																	182871533		2203	4300	6503	SO:0001819	synonymous_variant	27074				cell proliferation	integral to membrane|lysosomal membrane		g.chr3:182871533G>A	AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"""CD molecules"""	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.696C>T	3.37:g.182871533G>A							p.N232N	NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)		2	920	-	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		232			Lumenal (Potential).		D3DNS4|O94781|Q8NEC8	Silent	SNP	ENST00000265598.3	37	c.696C>T	CCDS3242.1																																																																																				0.502	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350863.1			12	121	0	0	0	0	12	121				
EIF4G1	1981	broad.mit.edu	37	3	184046477	184046477	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:184046477C>T	ENST00000346169.2	+	27	4283	c.4012C>T	c.(4012-4014)Ctc>Ttc	p.L1338F	SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000352767.3_Missense_Mutation_p.L1345F|EIF4G1_ENST00000319274.6_Missense_Mutation_p.L1338F|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000427845.1_Missense_Mutation_p.L1252F|EIF4G1_ENST00000350481.5_Missense_Mutation_p.L1174F|EIF4G1_ENST00000392537.2_Missense_Mutation_p.L1251F|EIF4G1_ENST00000414031.1_Missense_Mutation_p.L1298F|EIF4G1_ENST00000435046.2_Missense_Mutation_p.L1142F|EIF4G1_ENST00000342981.4_Missense_Mutation_p.L1339F|EIF4G1_ENST00000411531.1_Missense_Mutation_p.L1299F|EIF4G1_ENST00000434061.2_Missense_Mutation_p.L1143F|EIF4G1_ENST00000382330.3_Missense_Mutation_p.L1345F|EIF4G1_ENST00000424196.1_Missense_Mutation_p.L1345F|EIF4G1_ENST00000441154.1_Missense_Mutation_p.L1175F	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1338	MI. {ECO:0000255|PROSITE- ProRule:PRU00698}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCACGTGTGGCTCTACCTAGC	0.532																																						uc003fnp.2		NA																	0				lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(4012-4014)CTC>TTC		eukaryotic translation initiation factor 4							139.0	138.0	138.0					3																	184046477		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184046477C>T	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.4012C>T	3.37:g.184046477C>T	ENSP00000316879:p.Leu1338Phe					EIF4G1_uc003fnt.2_Missense_Mutation_p.L1049F|EIF4G1_uc003fnq.2_Missense_Mutation_p.L1251F|EIF4G1_uc003fnr.2_Missense_Mutation_p.L1174F|EIF4G1_uc010hxx.2_Missense_Mutation_p.L1345F|EIF4G1_uc003fns.2_Missense_Mutation_p.L1298F|EIF4G1_uc010hxy.2_Missense_Mutation_p.L1345F|EIF4G1_uc003fnv.3_Missense_Mutation_p.L1339F|EIF4G1_uc003fnu.3_Missense_Mutation_p.L1338F|EIF4G1_uc003fnw.2_Missense_Mutation_p.L1345F|EIF4G1_uc003fnx.2_Missense_Mutation_p.L1143F|EIF4G1_uc003fny.3_Missense_Mutation_p.L1142F|EIF4G1_uc003foa.2_Missense_Mutation_p.L10F	p.L1338F	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		27	4210	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		1338			MI.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.4012C>T	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	C	32	5.125755	0.94429	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.69	5.69	0.88448	Initiation factor eIF-4 gamma, MA3 (3);Armadillo-type fold (1);	0.064556	0.64402	N	0.000005	T	0.68915	0.3053	M	0.80028	2.48	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.70468	-0.4863	10	0.56958	D	0.05	-12.891	19.812	0.96551	0.0:1.0:0.0:0.0	.	1345;1339;1338	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	F	1338;1298;1251;1345;1174;1345;1252;1339;1338;1345;1299;1175;1143;1142	ENSP00000316879:L1338F;ENSP00000391935:L1298F;ENSP00000376320:L1251F;ENSP00000371767:L1345F;ENSP00000317600:L1174F;ENSP00000338020:L1345F;ENSP00000407682:L1252F;ENSP00000343450:L1339F;ENSP00000323737:L1338F;ENSP00000416255:L1345F;ENSP00000395974:L1299F;ENSP00000399858:L1175F;ENSP00000411826:L1143F;ENSP00000404754:L1142F	ENSP00000323737:L1338F	L	+	1	0	EIF4G1	185529171	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.013000	0.49582	2.685000	0.91497	0.655000	0.94253	CTC		0.532	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		8	189	0	0	0	0	8	189				
FGF12	2257	broad.mit.edu	37	3	191888366	191888366	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:191888366C>T	ENST00000454309.2	-	4	1319	c.494G>A	c.(493-495)cGc>cAc	p.R165H	FGF12_ENST00000430714.1_Missense_Mutation_p.R66H|FGF12_ENST00000445105.2_Missense_Mutation_p.R103H|FGF12_ENST00000264730.3_Missense_Mutation_p.R103H|FGF12_ENST00000450716.1_Missense_Mutation_p.R103H	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	165					adult locomotory behavior (GO:0008344)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell-cell signaling (GO:0007267)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|JNK cascade (GO:0007254)|negative regulation of cation channel activity (GO:2001258)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|regulation of membrane depolarization (GO:0003254)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TTCTTGCTGGCGGTACAGTGT	0.393																																						uc003fsx.2		NA																	0				ovary(1)|skin(1)|lung(1)|pancreas(1)	4						c.(493-495)CGC>CAC		fibroblast growth factor 12 isoform 1							207.0	211.0	209.0					3																	191888366		2203	4300	6503	SO:0001583	missense	2257				cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding	g.chr3:191888366C>T	U66197	CCDS3301.1, CCDS46983.1	3q28	2008-07-18			ENSG00000114279	ENSG00000114279			3668	protein-coding gene	gene with protein product	"""fibroblast growth factor 12B"", ""fibroblast growth factor homologous factor 1"", ""myocyte-activating factor"", ""fibroblast growth factor FGF-12b"""	601513		FGF12B		8790420, 9345906	Standard	NM_021032		Approved	FHF1	uc003fsx.3	P61328	OTTHUMG00000156132	ENST00000454309.2:c.494G>A	3.37:g.191888366C>T	ENSP00000413496:p.Arg165His					FGF12_uc003fsy.2_Missense_Mutation_p.R103H	p.R165H	NM_021032	NP_066360	P61328	FGF12_HUMAN	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)	4	1320	-	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	165					B2R6B7|B2R976|O35339|P70376|Q8TBG5|Q92912|Q93001	Missense_Mutation	SNP	ENST00000454309.2	37	c.494G>A	CCDS3301.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.758963	0.89843	.	.	ENSG00000114279	ENST00000264730;ENST00000392454;ENST00000445105;ENST00000454309;ENST00000440901;ENST00000450716;ENST00000430714;ENST00000448795;ENST00000418610	T;T;T;T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31	6.07	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.80417	0.4619	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.975;0.985	T	0.82902	-0.0227	10	0.87932	D	0	.	14.6881	0.69065	0.0:0.9307:0.0:0.0693	.	103;165	P61328-2;P61328	.;FGF12_HUMAN	H	103;103;103;165;60;103;66;79;103	ENSP00000264730:R103H;ENSP00000393686:R103H;ENSP00000413496:R165H;ENSP00000400948:R60H;ENSP00000397635:R103H;ENSP00000410125:R66H;ENSP00000412904:R79H;ENSP00000395517:R103H	ENSP00000264730:R103H	R	-	2	0	FGF12	193371060	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.425000	0.80255	1.578000	0.49821	0.655000	0.94253	CGC		0.393	FGF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343160.1	NM_021032		13	293	0	0	0	0	13	293				
ZDHHC19	131540	broad.mit.edu	37	3	195925231	195925231	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:195925231G>A	ENST00000296326.3	-	7	944	c.865C>T	c.(865-867)Ctc>Ttc	p.L289F		NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	289						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		GGGGGGTTGAGAGCAGAGGGG	0.632																																						uc003fwc.2		NA																	0				ovary(3)	3						c.(865-867)CTC>TTC		zinc finger, DHHC domain containing 19							34.0	39.0	37.0					3																	195925231		2024	4187	6211	SO:0001583	missense	131540					integral to membrane	acyltransferase activity|zinc ion binding	g.chr3:195925231G>A	BC022078	CCDS43190.1	3q29	2008-05-02			ENSG00000163958	ENSG00000163958		"""Zinc fingers, DHHC-type"""	20713	protein-coding gene	gene with protein product							Standard	XR_246038		Approved	MGC33345	uc003fwc.3	Q8WVZ1	OTTHUMG00000133642	ENST00000296326.3:c.865C>T	3.37:g.195925231G>A	ENSP00000296326:p.Leu289Phe					ZDHHC19_uc010hzz.2_RNA|ZDHHC19_uc010iaa.2_RNA|ZDHHC19_uc010iab.2_Intron	p.L289F	NM_001039617	NP_001034706	Q8WVZ1	ZDH19_HUMAN	Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)	7	979	-	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		289					A8MSY6|B3KVI1	Missense_Mutation	SNP	ENST00000296326.3	37	c.865C>T	CCDS43190.1	.	.	.	.	.	.	.	.	.	.	G	7.576	0.667745	0.14710	.	.	ENSG00000163958	ENST00000296326	T	0.32753	1.44	4.3	1.45	0.22620	.	759.040000	0.00357	N	0.000026	T	0.27731	0.0682	L	0.51422	1.61	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16276	-1.0408	10	0.10377	T	0.69	-0.7891	6.502	0.22174	0.0992:0.3535:0.5473:0.0	.	289	Q8WVZ1	ZDH19_HUMAN	F	289	ENSP00000296326:L289F	ENSP00000296326:L289F	L	-	1	0	ZDHHC19	197409628	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.955000	0.29188	0.192000	0.20272	-1.207000	0.01640	CTC		0.632	ZDHHC19-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341533.1	NM_144637		9	50	0	0	0	0	9	50				
SENP5	205564	broad.mit.edu	37	3	196612534	196612534	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:196612534C>T	ENST00000323460.5	+	2	731	c.482C>T	c.(481-483)cCa>cTa	p.P161L	SENP5_ENST00000445299.2_Missense_Mutation_p.P161L|SENP5_ENST00000419026.1_Intron	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	161					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		AGGACAGACCCACAACCTTCT	0.468																																					Ovarian(47;891 1095 11174 13858 51271)	uc003fwz.3		NA																	0				breast(2)|lung(1)	3						c.(481-483)CCA>CTA		SUMO1/sentrin specific peptidase 5							40.0	38.0	39.0					3																	196612534		2203	4300	6503	SO:0001583	missense	205564				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity	g.chr3:196612534C>T	BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"""SUMO1/sentrin specific protease 5"""			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.482C>T	3.37:g.196612534C>T	ENSP00000327197:p.Pro161Leu					SENP5_uc011bty.1_Missense_Mutation_p.P161L	p.P161L	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)	2	731	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		161					B4DY82|Q96SA5	Missense_Mutation	SNP	ENST00000323460.5	37	c.482C>T	CCDS3322.1	.	.	.	.	.	.	.	.	.	.	C	1.111	-0.658234	0.03454	.	.	ENSG00000119231	ENST00000323460;ENST00000445299	T;T	0.21361	2.33;2.01	4.42	-0.963	0.10330	.	1.348330	0.04776	N	0.428948	T	0.12263	0.0298	N	0.24115	0.695	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.29792	-1.0000	10	0.02654	T	1	10.8257	8.9393	0.35720	0.0:0.5111:0.0:0.4889	.	161;161	B4DY82;Q96HI0	.;SENP5_HUMAN	L	161	ENSP00000327197:P161L;ENSP00000390231:P161L	ENSP00000327197:P161L	P	+	2	0	SENP5	198096931	0.061000	0.20836	0.001000	0.08648	0.140000	0.21249	-0.347000	0.07750	-0.194000	0.10399	-0.150000	0.13652	CCA		0.468	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699		5	61	0	0	0	0	5	61				
WFS1	7466	broad.mit.edu	37	4	6302536	6302536	+	Silent	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr4:6302536C>T	ENST00000226760.1	+	8	1184	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	WFS1_ENST00000503569.1_Silent_p.I338I	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	338					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		ACCTCACCATCGACTTCTTCG	0.562																																						uc003giy.2		NA																	0				central_nervous_system(2)	2						c.(1012-1014)ATC>ATT		wolframin							440.0	291.0	342.0					4																	6302536		2203	4300	6503	SO:0001819	synonymous_variant	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6302536C>T	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.1014C>T	4.37:g.6302536C>T						WFS1_uc003gix.2_Silent_p.I338I|WFS1_uc003giz.2_Silent_p.I156I	p.I338I	NM_001145853	NP_001139325	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	8	1180	+			338					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Silent	SNP	ENST00000226760.1	37	c.1014C>T	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	c	5.230	0.227959	0.09916	.	.	ENSG00000109501	ENST00000506362	.	.	.	4.6	0.674	0.17946	.	.	.	.	.	T	0.50377	0.1612	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35001	-0.9806	4	.	.	.	-39.7116	4.5168	0.11939	0.0:0.3653:0.166:0.4687	.	.	.	.	L	216	.	.	S	+	2	0	WFS1	6353437	0.963000	0.33076	0.999000	0.59377	0.960000	0.62799	0.069000	0.14552	0.080000	0.16959	-1.052000	0.02337	TCG		0.562	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			22	55	0	0	0	0	22	55				
FAM13A	10144	broad.mit.edu	37	4	89827587	89827587	+	Silent	SNP	G	G	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr4:89827587G>C	ENST00000264344.5	-	6	993	c.786C>G	c.(784-786)ccC>ccG	p.P262P	FAM13A_ENST00000511976.1_Silent_p.P53P|FAM13A_ENST00000502459.1_5'UTR	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	262					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						TTAAAAGGATGGGCAGGGAGT	0.368																																						uc003hse.1		NA																	0				ovary(1)|liver(1)	2						c.(784-786)CCC>CCG		family with sequence similarity 13, member A1							276.0	290.0	286.0					4																	89827587		2203	4300	6503	SO:0001819	synonymous_variant	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89827587G>C	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.786C>G	4.37:g.89827587G>C						FAM13A_uc003hsf.1_Silent_p.P53P|FAM13A_uc003hsh.1_Silent_p.P76P	p.P262P	NM_014883	NP_055698	O94988	FA13A_HUMAN			6	994	-			262					B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Silent	SNP	ENST00000264344.5	37	c.786C>G	CCDS34029.1																																																																																				0.368	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			20	258	0	0	0	0	20	258				
GRID2	2895	broad.mit.edu	37	4	94145828	94145828	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr4:94145828G>A	ENST00000282020.4	+	7	1285	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	GRID2_ENST00000510992.1_Missense_Mutation_p.E248K	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	343					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TAAGAAGCTGGAGGACCGAAA	0.443																																						uc011cdt.1		NA																	0				ovary(3)|skin(2)|large_intestine(1)	6						c.(1027-1029)GAG>AAG		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						85.0	81.0	82.0					4																	94145828		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94145828G>A	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1027G>A	4.37:g.94145828G>A	ENSP00000282020:p.Glu343Lys					GRID2_uc011cdu.1_Missense_Mutation_p.E248K|GRID2_uc010ikz.1_Missense_Mutation_p.E24K	p.E343K	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	7	1285	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	343			Extracellular (Potential).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.1027G>A	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528057	0.85706	.	.	ENSG00000152208	ENST00000282020;ENST00000510992;ENST00000512631	D;D;D	0.82526	-1.62;-1.62;-1.62	5.53	5.53	0.82687	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.88713	0.6511	L	0.43923	1.385	0.80722	D	1	D;D;D	0.76494	0.979;0.997;0.999	D;D;D	0.81914	0.982;0.992;0.995	D	0.89300	0.3625	10	0.72032	D	0.01	.	19.4895	0.95044	0.0:0.0:1.0:0.0	.	248;343;248	E9PH24;O43424;Q4KKU8	.;GRID2_HUMAN;.	K	343;248;24	ENSP00000282020:E343K;ENSP00000421257:E248K;ENSP00000423331:E24K	ENSP00000282020:E343K	E	+	1	0	GRID2	94364851	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	9.869000	0.99810	2.596000	0.87737	0.655000	0.94253	GAG		0.443	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			10	18	0	0	0	0	10	18				
QRFPR	84109	broad.mit.edu	37	4	122250599	122250599	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr4:122250599T>G	ENST00000394427.2	-	6	1577	c.1166A>C	c.(1165-1167)gAa>gCa	p.E389A	QRFPR_ENST00000334383.5_3'UTR|Y_RNA_ENST00000384419.1_RNA	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	389					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						ACTGAATGCTTCTCCTTTGGT	0.428																																						uc010inj.1		NA																	0					0						c.(1165-1167)GAA>GCA		G protein-coupled receptor 103							244.0	239.0	241.0					4																	122250599		2203	4300	6503	SO:0001583	missense	84109					plasma membrane	neuropeptide Y receptor activity	g.chr4:122250599T>G	AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"""GPCR / Class A : RF amide peptide receptors"""	15565	protein-coding gene	gene with protein product		606925	"""G protein-coupled receptor 103"""	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.1166A>C	4.37:g.122250599T>G	ENSP00000377948:p.Glu389Ala					QRFPR_uc010ink.1_RNA|QRFPR_uc003ids.2_3'UTR	p.E389A	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN			6	1545	-			389			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000394427.2	37	c.1166A>C	CCDS3719.1	.	.	.	.	.	.	.	.	.	.	T	11.51	1.659405	0.29515	.	.	ENSG00000186867	ENST00000394427	T	0.73575	-0.76	5.16	5.16	0.70880	.	0.112146	0.64402	D	0.000015	T	0.59609	0.2206	L	0.32530	0.975	0.80722	D	1	B	0.32573	0.376	B	0.27380	0.079	T	0.57602	-0.7783	10	0.10111	T	0.7	.	13.542	0.61679	0.0:0.0:0.0:1.0	.	389	Q96P65	QRFPR_HUMAN	A	389	ENSP00000377948:E389A	ENSP00000377948:E389A	E	-	2	0	QRFPR	122470049	1.000000	0.71417	0.916000	0.36221	0.070000	0.16714	4.135000	0.57997	1.953000	0.56701	0.260000	0.18958	GAA		0.428	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179		13	143	0	0	0	0	13	143				
SETD7	80854	broad.mit.edu	37	4	140439120	140439120	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr4:140439120G>C	ENST00000274031.3	-	7	1475	c.839C>G	c.(838-840)cCc>cGc	p.P280R	SETD7_ENST00000506866.2_Missense_Mutation_p.P280R	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	280	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin modification (GO:0016568)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					GTGGTTATAGGGCTCAGGCAC	0.493																																						uc003ihw.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(838-840)CCC>CGC		SET domain-containing protein 7							204.0	173.0	183.0					4																	140439120		2203	4300	6503	SO:0001583	missense	80854				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding	g.chr4:140439120G>C	AB051504	CCDS3748.1	4q31.1	2011-07-01			ENSG00000145391	ENSG00000145391		"""Chromatin-modifying enzymes / K-methyltransferases"""	30412	protein-coding gene	gene with protein product		606594				11850410, 11779497	Standard	NM_030648		Approved	KIAA1717, SET7, SET7/9, Set9, KMT7	uc003ihw.3	Q8WTS6	OTTHUMG00000133385	ENST00000274031.3:c.839C>G	4.37:g.140439120G>C	ENSP00000274031:p.Pro280Arg						p.P280R	NM_030648	NP_085151	Q8WTS6	SETD7_HUMAN			7	1125	-	all_hematologic(180;0.156)		280			SET.		B5WWL3|Q0VAH3|Q4W5A9|Q9C0E6	Missense_Mutation	SNP	ENST00000274031.3	37	c.839C>G	CCDS3748.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.722023	0.68959	.	.	ENSG00000145391	ENST00000506866;ENST00000274031	D;T	0.85861	-2.04;-1.43	5.37	4.51	0.55191	SET domain (3);	0.100978	0.64402	D	0.000001	D	0.91395	0.7285	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.69654	0.965	D	0.92198	0.5765	10	0.66056	D	0.02	-19.3601	15.2971	0.73916	0.0:0.0:0.8589:0.1411	.	280	Q8WTS6	SETD7_HUMAN	R	280	ENSP00000427300:P280R;ENSP00000274031:P280R	ENSP00000274031:P280R	P	-	2	0	SETD7	140658570	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.605000	0.82844	1.247000	0.43917	0.555000	0.69702	CCC		0.493	SETD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257236.1	NM_030648		7	84	0	0	0	0	7	84				
TIGD4	201798	broad.mit.edu	37	4	153692050	153692050	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr4:153692050C>T	ENST00000304337.2	-	2	927	c.107G>A	c.(106-108)gGc>gAc	p.G36D		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	36	HTH psq-type. {ECO:0000255|PROSITE- ProRule:PRU00320}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					TTTTTTCTTGCCACTTTCCAC	0.363																																						uc003imy.2		NA																	0				ovary(1)	1						c.(106-108)GGC>GAC		tigger transposable element derived 4							116.0	113.0	114.0					4																	153692050		2203	4300	6503	SO:0001583	missense	201798				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding	g.chr4:153692050C>T	AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.107G>A	4.37:g.153692050C>T	ENSP00000355162:p.Gly36Asp						p.G36D	NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN			2	889	-	all_hematologic(180;0.093)		36			HTH psq-type.		Q96LP5	Missense_Mutation	SNP	ENST00000304337.2	37	c.107G>A	CCDS34079.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456258	0.63401	.	.	ENSG00000169989	ENST00000304337	T	0.56444	0.46	6.17	6.17	0.99709	Homeodomain-related (1);Homeodomain-like (1);Helix-turn-helix, Psq-like (1);Centromere protein Cenp-B, DNA-binding domain 1 (1);	0.000000	0.52532	D	0.000071	T	0.71804	0.3383	M	0.68952	2.095	0.46061	D	0.998849	D	0.67145	0.996	D	0.68943	0.961	T	0.72027	-0.4414	10	0.87932	D	0	-13.08	18.6676	0.91497	0.0:1.0:0.0:0.0	.	36	Q8IY51	TIGD4_HUMAN	D	36	ENSP00000355162:G36D	ENSP00000355162:G36D	G	-	2	0	TIGD4	153911500	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.822000	0.62686	2.941000	0.99782	0.655000	0.94253	GGC		0.363	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365028.1	NM_145720		5	62	0	0	0	0	5	62				
ICE1	23379	broad.mit.edu	37	5	5465121	5465121	+	Missense_Mutation	SNP	C	C	T	rs536669401		TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr5:5465121C>T	ENST00000296564.7	+	13	5896	c.5674C>T	c.(5674-5676)Cca>Tca	p.P1892S		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1892					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TTGTTCTAGTCCAGCCGTCAG	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		18741	0.0		0.0	False		,,,				2504	0.001					uc003jdm.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(5674-5676)CCA>TCA		hypothetical protein LOC23379							78.0	74.0	75.0					5																	5465121		1878	4110	5988	SO:0001583	missense	23379							g.chr5:5465121C>T																												ENST00000296564.7:c.5674C>T	5.37:g.5465121C>T	ENSP00000296564:p.Pro1892Ser						p.P1892S	NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN			13	5896	+			1892					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.5674C>T	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.631962	0.29068	.	.	ENSG00000164151	ENST00000296564	T	0.10099	2.91	5.6	0.31	0.15825	.	.	.	.	.	T	0.07188	0.0182	L	0.29908	0.895	0.09310	N	1	B	0.17038	0.02	B	0.18561	0.022	T	0.38243	-0.9670	9	0.37606	T	0.19	-0.0099	4.33	0.11059	0.2545:0.298:0.3732:0.0743	.	1892	Q9Y2F5	K0947_HUMAN	S	1892	ENSP00000296564:P1892S	ENSP00000296564:P1892S	P	+	1	0	KIAA0947	5518121	0.000000	0.05858	0.000000	0.03702	0.118000	0.20060	0.094000	0.15107	-0.242000	0.09667	0.467000	0.42956	CCA		0.468	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			6	27	0	0	0	0	6	27				
CDH10	1008	broad.mit.edu	37	5	24593411	24593411	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr5:24593411T>G	ENST00000264463.4	-	2	696	c.189A>C	c.(187-189)ttA>ttC	p.L63F	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	63	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATTCTTCAAGTAAGAAAAATT	0.363										HNSCC(23;0.051)																												uc003jgr.1		NA																	0				ovary(6)|pancreas(4)|breast(2)	12						c.(187-189)TTA>TTC		cadherin 10, type 2 preproprotein							127.0	128.0	127.0					5																	24593411		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24593411T>G	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.189A>C	5.37:g.24593411T>G	ENSP00000264463:p.Leu63Phe	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.L63F	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	2	521	-			63			Cadherin 1.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.189A>C	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	T	14.99	2.701121	0.48307	.	.	ENSG00000040731	ENST00000264463	T	0.00340	8.04	4.37	-0.994	0.10225	Cadherin-like (1);	0.000000	0.64402	D	0.000005	T	0.00328	0.0010	M	0.81497	2.545	0.33834	D	0.630623	P	0.35124	0.485	B	0.37888	0.26	T	0.54970	-0.8213	10	0.87932	D	0	.	5.4458	0.16535	0.1625:0.4517:0.0:0.3858	.	63	Q9Y6N8	CAD10_HUMAN	F	63	ENSP00000264463:L63F	ENSP00000264463:L63F	L	-	3	2	CDH10	24629168	0.996000	0.38824	0.995000	0.50966	0.894000	0.52154	0.362000	0.20284	-0.099000	0.12263	0.477000	0.44152	TTA		0.363	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		16	94	0	0	0	0	16	94				
DEPDC1B	55789	broad.mit.edu	37	5	59894929	59894929	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr5:59894929G>T	ENST00000265036.5	-	10	1468	c.1401C>A	c.(1399-1401)aaC>aaA	p.N467K	DEPDC1B_ENST00000545085.1_Intron|DEPDC1B_ENST00000453022.2_Intron	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	467					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				TTTTCTCTTTGTTGGAGAGTT	0.343																																						uc003jsh.2		NA																	0				ovary(1)	1						c.(1399-1401)AAC>AAA		DEP domain containing 1B isoform 1							77.0	75.0	76.0					5																	59894929		2203	4300	6503	SO:0001583	missense	55789				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:59894929G>T	AF303178	CCDS3977.1, CCDS47214.1	5q12	2008-02-05			ENSG00000035499	ENSG00000035499			24902	protein-coding gene	gene with protein product	"""breast cancer cell 3"""					12477932	Standard	NM_001145208		Approved	XTP1, BRCC3	uc003jsh.3	Q8WUY9	OTTHUMG00000097083	ENST00000265036.5:c.1401C>A	5.37:g.59894929G>T	ENSP00000265036:p.Asn467Lys					DEPDC1B_uc011cqm.1_Intron|DEPDC1B_uc011cqn.1_Intron	p.N467K	NM_018369	NP_060839	Q8WUY9	DEP1B_HUMAN			10	1474	-		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)	467					A8K3R9|B4DUT4|Q86WJ3|Q8IZY6|Q9NUN3|Q9NW57	Missense_Mutation	SNP	ENST00000265036.5	37	c.1401C>A	CCDS3977.1	.	.	.	.	.	.	.	.	.	.	G	0.368	-0.935557	0.02340	.	.	ENSG00000035499	ENST00000265036	D	0.83673	-1.75	5.74	-0.483	0.12075	.	0.663535	0.15968	N	0.235959	T	0.59945	0.2231	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.35375	-0.9791	9	.	.	.	-0.0017	0.9895	0.01454	0.2525:0.106:0.3465:0.295	.	467	Q8WUY9	DEP1B_HUMAN	K	467	ENSP00000265036:N467K	.	N	-	3	2	DEPDC1B	59930686	0.001000	0.12720	0.191000	0.23289	0.688000	0.40055	-0.147000	0.10234	-0.145000	0.11294	-0.218000	0.12543	AAC		0.343	DEPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214207.1	NM_018369		8	13	1	0	0.000157383	0.000281906	8	13				
APC	324	broad.mit.edu	37	5	112176386	112176386	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr5:112176386G>A	ENST00000457016.1	+	16	5475	c.5095G>A	c.(5095-5097)Gag>Aag	p.E1699K	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.E1699K|APC_ENST00000257430.4_Missense_Mutation_p.E1699K			P25054	APC_HUMAN	adenomatous polyposis coli	1699	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAGTACAGATGAGGCTCAAGG	0.423		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	uc010jby.2		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	D|Mis|N|F|S	adenomatous polyposis of the colon gene			"""E, M, O"""		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS		2	Unknown(1)|Deletion - Frameshift(1)	p.K1192fs*3(1)|p.?(1)	soft_tissue(1)|skin(1)	large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515						c.(5095-5097)GAG>AAG		adenomatous polyposis coli							60.0	62.0	61.0					5																	112176386		2202	4300	6502	SO:0001583	missense	324	Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112176386G>A	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.5095G>A	5.37:g.112176386G>A	ENSP00000413133:p.Glu1699Lys	TSP Lung(16;0.13)				APC_uc011cvt.1_Missense_Mutation_p.E1681K|APC_uc003kpz.3_Missense_Mutation_p.E1699K|APC_uc003kpy.3_Missense_Mutation_p.E1699K|APC_uc010jbz.2_Missense_Mutation_p.E1416K|APC_uc010jca.2_Missense_Mutation_p.E999K	p.E1699K	NM_001127511	NP_001120983	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	5475	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1699			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.5095G>A	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490086	0.44249	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.89485	-2.52;-2.52;-2.52	6.16	6.16	0.99307	.	0.126317	0.53938	D	0.000052	T	0.81346	0.4803	N	0.14661	0.345	0.37961	D	0.932982	P;B	0.34562	0.457;0.247	B;B	0.31390	0.129;0.091	T	0.79110	-0.1938	9	.	.	.	-10.7616	20.8598	0.99761	0.0:0.0:1.0:0.0	.	1701;1699	Q4LE70;P25054	.;APC_HUMAN	K	1699	ENSP00000413133:E1699K;ENSP00000257430:E1699K;ENSP00000427089:E1699K	.	E	+	1	0	APC	112204285	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.712000	0.47186	2.937000	0.99478	0.650000	0.86243	GAG		0.423	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		6	22	0	0	0	0	6	22				
ANKHD1	54882	broad.mit.edu	37	5	139876609	139876609	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr5:139876609C>G	ENST00000360839.2	+	15	2904	c.2750C>G	c.(2749-2751)cCa>cGa	p.P917R	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P917R|ANKHD1_ENST00000297183.6_Missense_Mutation_p.P917R|ANKHD1_ENST00000462121.1_3'UTR	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	917						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTCTCCACCATCGGCAGAA	0.413																																						uc003lfs.1		NA																	0				ovary(6)	6						c.(2749-2751)CCA>CGA		ANKHD1-EIF4EBP3 protein							125.0	125.0	125.0					5																	139876609		2203	4300	6503	SO:0001583	missense	404734					cytoplasm|nucleus	RNA binding	g.chr5:139876609C>G	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.2750C>G	5.37:g.139876609C>G	ENSP00000354085:p.Pro917Arg					ANKHD1_uc003lfq.1_Missense_Mutation_p.P936R|ANKHD1_uc003lfr.2_Missense_Mutation_p.P917R|ANKHD1_uc003lft.1_Intron|ANKHD1_uc003lfu.1_Missense_Mutation_p.P397R|ANKHD1_uc003lfv.1_Intron	p.P917R	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		15	2874	+			917					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.2750C>G	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.561782	0.27915	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000421134;ENST00000532219	T;T;T;T	0.68903	-0.32;-0.36;-0.22;-0.36	5.47	4.55	0.56014	Ankyrin repeat-containing domain (1);	0.130246	0.52532	D	0.000080	T	0.59702	0.2213	L	0.43152	1.355	0.58432	D	0.999995	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.55186	-0.8180	10	0.33141	T	0.24	.	16.8831	0.86068	0.0:0.8721:0.1279:0.0	.	917;917;917	Q8IWZ3-4;Q8IWZ2;Q8IWZ3	.;.;ANKH1_HUMAN	R	917;950;917;917;451;936;917	ENSP00000354085:P917R;ENSP00000297183:P917R;ENSP00000394489:P936R;ENSP00000432016:P917R	ENSP00000432016:P917R	P	+	2	0	ANKHD1-EIF4EBP3;ANKHD1	139856793	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	3.296000	0.51802	2.718000	0.92993	0.591000	0.81541	CCA		0.413	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		32	44	0	0	0	0	32	44				
PCDHA5	56143	broad.mit.edu	37	5	140201942	140201942	+	Silent	SNP	T	T	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr5:140201942T>G	ENST00000529859.1	+	1	582	c.582T>G	c.(580-582)gtT>gtG	p.V194V	PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.V194V|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.V194V	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	194	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGAGCTGGTTTTGAGGAAAT	0.353																																						uc003lhl.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(580-582)GTT>GTG		protocadherin alpha 5 isoform 1 precursor							82.0	89.0	87.0					5																	140201942		2202	4299	6501	SO:0001819	synonymous_variant	56143				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140201942T>G	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.582T>G	5.37:g.140201942T>G						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.V194V|PCDHA5_uc003lhj.1_Silent_p.V194V	p.V194V	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	582	+			194			Extracellular (Potential).|Cadherin 2.		O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	c.582T>G	CCDS54917.1																																																																																				0.353	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		24	38	0	0	0	0	24	38				
PCDHB7	56129	broad.mit.edu	37	5	140553578	140553578	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr5:140553578G>A	ENST00000231137.3	+	1	1336	c.1162G>A	c.(1162-1164)Gat>Aat	p.D388N		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	388	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D388Y(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATCCAGGACGATGTCCCCTT	0.468																																						uc003lit.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1162-1164)GAT>AAT		protocadherin beta 7 precursor							75.0	76.0	75.0					5																	140553578		2203	4300	6503	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553578G>A	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1162G>A	5.37:g.140553578G>A	ENSP00000231137:p.Asp388Asn						p.D388N	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1336	+			388			Extracellular (Potential).|Cadherin 4.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.1162G>A	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	0.918	-0.716854	0.03206	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.37915	1.17	4.61	-0.914	0.10497	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.14743	0.0356	N	0.05383	-0.06	0.19775	N	0.999952	B	0.18013	0.025	B	0.18263	0.021	T	0.32268	-0.9913	9	0.02654	T	1	.	9.7626	0.40541	0.1861:0.4852:0.3286:0.0	.	388	Q9Y5E2	PCDB7_HUMAN	N	388;171	ENSP00000231137:D388N	ENSP00000231137:D388N	D	+	1	0	PCDHB7	140533762	0.000000	0.05858	0.019000	0.16419	0.909000	0.53808	-1.483000	0.02318	-0.154000	0.11118	0.650000	0.86243	GAT		0.468	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		5	35	0	0	0	0	5	35				
PCDHGB3	56102	broad.mit.edu	37	5	140778379	140778379	+	Intron	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr5:140778379C>T	ENST00000576222.1	+	1	2546				PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTGAGCTCCGGATCCAGGT	0.547																																						uc003lkf.1		NA																	0					0						c.(685-687)CGG>TGG		protocadherin gamma subfamily B, 5 isoform 1							101.0	107.0	105.0					5																	140778379		2013	4166	6179	SO:0001627	intron_variant	56101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140778379C>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+26003C>T	5.37:g.140778379C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.R229W	p.R229W	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	685	+			229			Extracellular (Potential).|Cadherin 2.		A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.685C>T	CCDS58980.1																																																																																				0.547	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		50	59	0	0	0	0	50	59				
CYFIP2	26999	broad.mit.edu	37	5	156786087	156786087	+	Splice_Site	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr5:156786087C>A	ENST00000442283.2	+	25	2882		c.e25+1		CYFIP2_ENST00000347377.6_Silent_p.I916I|CYFIP2_ENST00000377576.3_Silent_p.I916I|CYFIP2_ENST00000521420.1_Silent_p.I890I|CYFIP2_ENST00000318218.6_Silent_p.I941I|CYFIP2_ENST00000522463.1_Silent_p.I720I|CYFIP2_ENST00000541131.1_Silent_p.I841I|CYFIP2_ENST00000435847.2_Silent_p.I615I	NM_001037333.1	NP_001032410.1			cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCAAGACTATCTGCAGACTCC	0.488																																						uc003lwq.2		NA																	0					0						c.(2746-2748)ATC>ATA		cytoplasmic FMR1 interacting protein 2							161.0	162.0	162.0					5																	156786087		2003	4180	6183	SO:0001630	splice_region_variant	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156786087C>A	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000442283.2:c.600+1C>A	5.37:g.156786087C>A						CYFIP2_uc011ddn.1_Silent_p.I890I|CYFIP2_uc011ddo.1_Silent_p.I720I|CYFIP2_uc003lwr.2_Silent_p.I916I|CYFIP2_uc003lws.2_Silent_p.I916I|CYFIP2_uc003lwt.2_Silent_p.I819I|CYFIP2_uc011ddp.1_Silent_p.I650I	p.I916I	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		26	2886	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	941						Silent	SNP	ENST00000442283.2	37	c.2748C>A		.	.	.	.	.	.	.	.	.	.	C	9.563	1.118864	0.20877	.	.	ENSG00000055163	ENST00000442283	.	.	.	5.28	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0761	0.64891	0.0:0.9274:0.0:0.0726	.	.	.	.	.	-1	.	.	.	+	.	.	CYFIP2	156718665	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.234000	0.51320	1.215000	0.43411	0.655000	0.94253	.		0.488	CYFIP2-205	KNOWN	basic	protein_coding	protein_coding		NM_001037332	Intron	51	73	1	0	4.01e-20	8.16e-20	51	73				
RNF145	153830	broad.mit.edu	37	5	158588301	158588301	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr5:158588301G>T	ENST00000424310.2	-	10	1958	c.1599C>A	c.(1597-1599)caC>caA	p.H533Q	RNF145_ENST00000519865.1_Missense_Mutation_p.H533Q|RNF145_ENST00000518284.1_5'UTR|RNF145_ENST00000520638.1_Missense_Mutation_p.H547Q|RNF145_ENST00000521606.2_Missense_Mutation_p.H550Q|RNF145_ENST00000274542.2_Missense_Mutation_p.H561Q|RNF145_ENST00000518802.1_Missense_Mutation_p.H563Q	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	533						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAATATCATTGTGTTTCTCAA	0.433																																						uc003lxp.2		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(1597-1599)CAC>CAA		ring finger protein 145							51.0	52.0	52.0					5																	158588301		2197	4289	6486	SO:0001583	missense	153830					integral to membrane	zinc ion binding	g.chr5:158588301G>T	BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.1599C>A	5.37:g.158588301G>T	ENSP00000409064:p.His533Gln					RNF145_uc011ddy.1_Missense_Mutation_p.H547Q|RNF145_uc003lxo.1_Missense_Mutation_p.H561Q|RNF145_uc011ddz.1_Missense_Mutation_p.H550Q|RNF145_uc010jiq.1_Missense_Mutation_p.H563Q	p.H533Q	NM_144726	NP_653327	Q96MT1	RN145_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		10	1912	-	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	533					B7Z903|B7Z949|E7EVI7|Q8IVP7	Missense_Mutation	SNP	ENST00000424310.2	37	c.1599C>A	CCDS56390.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.823521	0.50739	.	.	ENSG00000145860	ENST00000274542;ENST00000519865;ENST00000424310;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000535312;ENST00000520638	T;T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	6.07	5.2	0.72013	Zinc finger, RING/FYVE/PHD-type (1);	0.045271	0.85682	D	0.000000	T	0.65365	0.2684	L	0.28400	0.85	0.53688	D	0.99997	P;B;D;B;P	0.54397	0.769;0.322;0.966;0.062;0.775	B;B;P;B;B	0.52159	0.187;0.087;0.691;0.023;0.338	T	0.65496	-0.6154	10	0.38643	T	0.18	-19.1042	15.2563	0.73588	0.067:0.0:0.933:0.0	.	550;547;563;533;561	B7Z949;B7Z903;E7EVI7;Q96MT1;Q96MT1-2	.;.;.;RN145_HUMAN;.	Q	561;533;533;549;550;563;533;547	ENSP00000274542:H561Q;ENSP00000430397:H533Q;ENSP00000409064:H533Q;ENSP00000430753:H549Q;ENSP00000445115:H550Q;ENSP00000430955:H563Q;ENSP00000429071:H547Q	ENSP00000274542:H561Q	H	-	3	2	RNF145	158520879	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.851000	0.62896	1.572000	0.49736	0.650000	0.86243	CAC		0.433	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		6	39	1	0	2.77e-08	5.32e-08	6	39				
UIMC1	51720	broad.mit.edu	37	5	176395738	176395738	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr5:176395738C>G	ENST00000377227.4	-	6	1150	c.1018G>C	c.(1018-1020)Gag>Cag	p.E340Q	UIMC1_ENST00000377219.2_Missense_Mutation_p.E340Q|UIMC1_ENST00000506128.1_Intron|UIMC1_ENST00000511320.1_Missense_Mutation_p.E340Q|UIMC1_ENST00000503273.1_5'UTR			Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	340	AIR.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTAGCCTGCTCTCCTTGGCCA	0.463																																						uc011dfp.1		NA																	0				ovary(3)|skin(1)	4						c.(1018-1020)GAG>CAG		ubiquitin interaction motif containing 1							137.0	130.0	132.0					5																	176395738		2203	4300	6503	SO:0001583	missense	51720				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding	g.chr5:176395738C>G	AF349313	CCDS4408.1	5q35.2	2008-02-05			ENSG00000087206	ENSG00000087206			30298	protein-coding gene	gene with protein product	"""receptor associated protein 80"""	609433				12080054	Standard	NM_001199297		Approved	RAP80	uc021yin.1	Q96RL1	OTTHUMG00000130852	ENST00000377227.4:c.1018G>C	5.37:g.176395738C>G	ENSP00000366434:p.Glu340Gln					UIMC1_uc003mfc.1_Missense_Mutation_p.E217Q|UIMC1_uc003mfd.1_Intron|UIMC1_uc003mfg.1_Intron|UIMC1_uc003mff.1_Intron	p.E340Q	NM_016290	NP_057374	Q96RL1	UIMC1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	1185	-	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	340			AIR.		A8MSA1|B3KMZ1|B4E3N2|Q5XKQ1|Q7Z3W7|Q8N5B9|Q9BZR1|Q9BZR5|Q9UHX7	Missense_Mutation	SNP	ENST00000377227.4	37	c.1018G>C	CCDS4408.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.232438	0.39498	.	.	ENSG00000087206	ENST00000377227;ENST00000377219;ENST00000511320;ENST00000377220	T;T;T	0.30981	1.51;1.51;1.51	5.99	4.13	0.48395	.	0.334007	0.29722	N	0.011361	T	0.25419	0.0618	L	0.40543	1.245	0.22693	N	0.998848	B;P	0.35272	0.277;0.493	B;B	0.34779	0.189;0.189	T	0.14643	-1.0465	10	0.44086	T	0.13	.	11.5461	0.50694	0.0:0.8075:0.1253:0.0672	.	340;262	Q96RL1;Q96RL1-3	UIMC1_HUMAN;.	Q	340;340;340;262	ENSP00000366434:E340Q;ENSP00000366425:E340Q;ENSP00000421926:E340Q	ENSP00000366425:E340Q	E	-	1	0	UIMC1	176328344	0.991000	0.36638	1.000000	0.80357	0.991000	0.79684	2.656000	0.46716	1.543000	0.49345	0.650000	0.86243	GAG		0.463	UIMC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253422.1	NM_016290		43	49	0	0	0	0	43	49				
GMDS	2762	broad.mit.edu	37	6	1742785	1742785	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:1742785C>A	ENST00000380815.4	-	8	1076	c.807G>T	c.(805-807)gaG>gaT	p.E269D	GMDS_ENST00000530927.1_Missense_Mutation_p.E239D	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	269					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TAACGAAGTCCTCCGGCTCAT	0.448																																						uc003mtq.2		NA																	0				central_nervous_system(1)	1						c.(805-807)GAG>GAT		GDP-mannose 4,6-dehydratase							124.0	107.0	113.0					6																	1742785		2203	4300	6503	SO:0001583	missense	2762				'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity	g.chr6:1742785C>A	AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	4369	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 3E, member 1"""	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.807G>T	6.37:g.1742785C>A	ENSP00000370194:p.Glu269Asp						p.E269D	NM_001500	NP_001491	O60547	GMDS_HUMAN		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)	8	997	-	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)	269					E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Missense_Mutation	SNP	ENST00000380815.4	37	c.807G>T	CCDS4474.1	.	.	.	.	.	.	.	.	.	.	C	5.193	0.221095	0.09863	.	.	ENSG00000112699	ENST00000530927;ENST00000380815	D;D	0.94092	-3.35;-3.35	5.51	3.49	0.39957	NAD-dependent epimerase/dehydratase (1);	0.118034	0.56097	D	0.000029	T	0.73218	0.3559	N	0.05510	-0.035	0.43508	D	0.995769	B	0.02656	0.0	B	0.06405	0.002	T	0.68239	-0.5461	10	0.20519	T	0.43	-13.5971	9.77	0.40585	0.0:0.7428:0.0:0.2572	.	269	O60547	GMDS_HUMAN	D	239;269	ENSP00000436726:E239D;ENSP00000370194:E269D	ENSP00000370194:E269D	E	-	3	2	GMDS	1687784	0.998000	0.40836	1.000000	0.80357	0.384000	0.30261	0.601000	0.24119	1.333000	0.45449	-0.253000	0.11424	GAG		0.448	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043380.3			21	36	1	0	3.62e-10	7.1e-10	21	36				
KDM1B	221656	broad.mit.edu	37	6	18217997	18217997	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:18217997C>T	ENST00000297792.5	+	17	1747	c.1570C>T	c.(1570-1572)Cgg>Tgg	p.R524W	KDM1B_ENST00000546309.2_Missense_Mutation_p.R47W|KDM1B_ENST00000388870.2_Missense_Mutation_p.R757W|KDM1B_ENST00000397244.1_Missense_Mutation_p.R525W			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	756					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						TTTTGTCACTCGGTGGAGCAC	0.478																																						uc003nco.1		NA																	0				skin(1)	1						c.(1657-1659)CGG>TGG		amine oxidase (flavin containing) domain 1							177.0	154.0	162.0					6																	18217997		2203	4300	6503	SO:0001583	missense	221656				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	g.chr6:18217997C>T	AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"""Chromatin-modifying enzymes / K-demethylases"""	21577	protein-coding gene	gene with protein product		613081	"""amine oxidase, flavin containing 1"", ""chromosome 6 open reading frame 193"", ""amine oxidase (flavin containing) domain 1"""	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.1570C>T	6.37:g.18217997C>T	ENSP00000297792:p.Arg524Trp					KDM1B_uc003ncn.1_Missense_Mutation_p.R524W|KDM1B_uc003ncp.1_Missense_Mutation_p.R109W|KDM1B_uc003ncq.1_Missense_Mutation_p.R109W	p.R553W	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN			14	1732	+			756					A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Missense_Mutation	SNP	ENST00000297792.5	37	c.1657C>T	CCDS34343.1	.	.	.	.	.	.	.	.	.	.	C	34	5.318195	0.95682	.	.	ENSG00000165097	ENST00000546309;ENST00000388870;ENST00000397244;ENST00000297792;ENST00000388869	D;D;D;D	0.93604	-3.25;-3.25;-3.25;-3.25	5.85	5.85	0.93711	Amine oxidase (1);	0.127409	0.56097	D	0.000032	D	0.97402	0.9150	M	0.90019	3.08	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.76071	0.987;0.939;0.971	D	0.97524	1.0075	10	0.87932	D	0	-22.7155	20.1577	0.98120	0.0:1.0:0.0:0.0	.	573;756;524	A2A2C4;Q8NB78;A2A2C6	.;KDM1B_HUMAN;.	W	47;757;525;524;754	ENSP00000442670:R47W;ENSP00000373522:R757W;ENSP00000380419:R525W;ENSP00000297792:R524W	ENSP00000297792:R524W	R	+	1	2	KDM1B	18325976	1.000000	0.71417	0.991000	0.47740	0.970000	0.65996	7.818000	0.86416	2.767000	0.95098	0.655000	0.94253	CGG		0.478	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	NM_153042		32	39	0	0	0	0	32	39				
C6orf62	81688	broad.mit.edu	37	6	24706378	24706378	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:24706378T>C	ENST00000378119.4	-	5	2844	c.677A>G	c.(676-678)tAt>tGt	p.Y226C	C6orf62_ENST00000540769.1_Missense_Mutation_p.Y168C|C6orf62_ENST00000378102.3_Missense_Mutation_p.Y197C|RP1-30M3.6_ENST00000606921.1_RNA	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	226						intracellular (GO:0005622)				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						CTCTGGCATATAAGGACGGAG	0.443																																						uc003nel.2		NA																	0					0						c.(676-678)TAT>TGT		hypothetical protein LOC81688							115.0	99.0	105.0					6																	24706378		2203	4300	6503	SO:0001583	missense	81688					intracellular		g.chr6:24706378T>C	AL136632	CCDS4559.1	6p22.1	2011-12-13			ENSG00000112308	ENSG00000112308			20998	protein-coding gene	gene with protein product	"""HBV X-transactivated protein 12"""					11230166	Standard	NM_030939		Approved	FLJ12619, DKFZP564G182, XTP12	uc003nel.3	Q9GZU0	OTTHUMG00000014361	ENST00000378119.4:c.677A>G	6.37:g.24706378T>C	ENSP00000367359:p.Tyr226Cys						p.Y226C	NM_030939	NP_112201	Q9GZU0	CF062_HUMAN			5	1184	-			226					Q3LIB6|Q5JVZ2|Q5JVZ3|Q6IA63|Q9H1Z2	Missense_Mutation	SNP	ENST00000378119.4	37	c.677A>G	CCDS4559.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.143588	0.77888	.	.	ENSG00000112308	ENST00000378119;ENST00000540769;ENST00000378102	T;T;T	0.42900	0.96;0.96;0.96	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.42988	0.1227	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.52533	-0.8563	10	0.87932	D	0	-13.2757	16.8222	0.85835	0.0:0.0:0.0:1.0	.	226	Q9GZU0	CF062_HUMAN	C	226;168;197	ENSP00000367359:Y226C;ENSP00000446225:Y168C;ENSP00000367342:Y197C	ENSP00000367342:Y197C	Y	-	2	0	C6orf62	24814357	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.964000	0.87933	2.371000	0.80710	0.533000	0.62120	TAT		0.443	C6orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040017.1	NM_030939		25	21	0	0	0	0	25	21				
SCGN	10590	broad.mit.edu	37	6	25701545	25701545	+	Silent	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:25701545G>T	ENST00000377961.2	+	11	981	c.813G>T	c.(811-813)ggG>ggT	p.G271G	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	271	EF-hand 6. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TGTGTCTTGGGCTGAAAATCA	0.463																																						uc003nfb.2		NA																	0				ovary(2)|pancreas(1)	3						c.(811-813)GGG>GGT		secretagogin precursor							142.0	129.0	133.0					6																	25701545		2203	4300	6503	SO:0001819	synonymous_variant	10590					extracellular region|transport vesicle membrane	calcium ion binding	g.chr6:25701545G>T	BC000336	CCDS4561.1	6p22.3-p22.1	2013-01-10			ENSG00000079689	ENSG00000079689		"""EF-hand domain containing"""	16941	protein-coding gene	gene with protein product	"""calbindin-like"""	609202				10811645	Standard	NM_006998		Approved	SECRET, DJ501N12.8, SEGN, CALBL	uc003nfb.3	O76038	OTTHUMG00000014409	ENST00000377961.2:c.813G>T	6.37:g.25701545G>T						SCGN_uc010jpz.2_Silent_p.G162G	p.G271G	NM_006998	NP_008929	O76038	SEGN_HUMAN			11	1016	+			271			EF-hand 6.		A8K0B2|Q5VV44|Q96QV7|Q9UJF6	Silent	SNP	ENST00000377961.2	37	c.813G>T	CCDS4561.1																																																																																				0.463	SCGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040067.1			24	34	1	0	7.88e-14	1.59e-13	24	34				
HIST1H2AK	8330	broad.mit.edu	37	6	27805943	27805943	+	Missense_Mutation	SNP	G	G	C	rs144042626		TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:27805943G>C	ENST00000330180.2	-	1	174	c.175C>G	c.(175-177)Cta>Gta	p.L59V	HIST1H2BN_ENST00000396980.3_5'Flank|HIST1H2BN_ENST00000606613.1_5'Flank	NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	59						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						TCGGCGGTTAGGTACTCCAAC	0.667																																						uc003njs.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(175-177)CTA>GTA		histone cluster 1, H2ak		G	VAL/LEU	1,4405		0,1,2202	56.0	60.0	59.0		175	4.4	1.0	6	dbSNP_134	59	0,8600		0,0,4300	no	missense	HIST1H2AK	NM_003510.2	32	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	probably-damaging	59/131	27805943	1,13005	2203	4300	6503	SO:0001583	missense	8330				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27805943G>C	Z83739	CCDS4632.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000184348	ENSG00000275221		"""Histones / Replication-dependent"""	4726	protein-coding gene	gene with protein product		602788	"""H2A histone family, member D"", ""histone 1, H2ak"""	H2AFD		9439656, 12408966	Standard	NM_003510		Approved	H2A/d	uc003njs.3	P0C0S8	OTTHUMG00000016382	ENST00000330180.2:c.175C>G	6.37:g.27805943G>C	ENSP00000330307:p.Leu59Val					HIST1H2BN_uc003njt.1_5'Flank|HIST1H2BN_uc003nju.1_5'Flank|HIST1H2BN_uc003njv.2_5'Flank	p.L59V	NM_003510	NP_003501	P0C0S8	H2A1_HUMAN			1	175	-			59					P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000330180.2	37	c.175C>G	CCDS4632.1	.	.	.	.	.	.	.	.	.	.	.	21.3	4.130422	0.77549	2.27E-4	0.0	ENSG00000184348	ENST00000330180	T	0.71103	-0.54	4.41	4.41	0.53225	.	0.000000	0.25991	U	0.027006	T	0.78272	0.4257	.	.	.	0.38833	D	0.955884	.	.	.	.	.	.	T	0.82057	-0.0646	7	0.87932	D	0	.	16.8673	0.86033	0.0:0.0:1.0:0.0	.	.	.	.	V	59	ENSP00000330307:L59V	ENSP00000330307:L59V	L	-	1	2	HIST1H2AK	27913922	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.218000	0.65257	2.365000	0.80145	0.650000	0.86243	CTA		0.667	HIST1H2AK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043814.1	NM_003510		12	91	0	0	0	0	12	91				
TNXB	7148	broad.mit.edu	37	6	32020624	32020624	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:32020624C>T	ENST00000375244.3	-	26	9139	c.8938G>A	c.(8938-8940)Gac>Aac	p.D2980N	TNXB_ENST00000375247.2_Missense_Mutation_p.D2978N			P22105	TENX_HUMAN	tenascin XB	3025	Fibronectin type-III 21. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GTGAAGGAGTCGAAGCGGCCC	0.701																																						uc003nzl.2		NA																	0					0						c.(8932-8934)GAC>AAC		tenascin XB isoform 1 precursor							50.0	54.0	53.0					6																	32020624		1237	2541	3778	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32020624C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.8938G>A	6.37:g.32020624C>T	ENSP00000364393:p.Asp2980Asn						p.D2978N	NM_019105	NP_061978	P22105	TENX_HUMAN			26	9134	-			3025			Fibronectin type-III 22.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.8932G>A		.	.	.	.	.	.	.	.	.	.	c	18.75	3.690619	0.68271	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.58940	0.3;0.3	4.47	4.47	0.54385	.	0.000000	0.41938	D	0.000792	T	0.72827	0.3509	M	0.93978	3.48	0.28536	N	0.912351	D	0.89917	1.0	D	0.66847	0.947	T	0.70410	-0.4879	10	0.33940	T	0.23	.	14.0234	0.64571	0.0:1.0:0.0:0.0	.	2978	P22105-3	.	N	2980;2978	ENSP00000364393:D2980N;ENSP00000364396:D2978N	ENSP00000364393:D2980N	D	-	1	0	TNXB	32128602	0.994000	0.37717	0.983000	0.44433	0.578000	0.36192	3.311000	0.51919	1.991000	0.58162	0.591000	0.81541	GAC		0.701	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		29	20	0	0	0	0	29	20				
ENPP4	22875	broad.mit.edu	37	6	46107712	46107712	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:46107712G>A	ENST00000321037.4	+	2	622	c.392G>A	c.(391-393)aGt>aAt	p.S131N		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	131					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						AACAGATCAAGTGCTGCTGCT	0.413																																						uc003oxy.2		NA																	0				ovary(3)|skin(1)	4						c.(391-393)AGT>AAT		ectonucleotide pyrophosphatase/phosphodiesterase							185.0	172.0	176.0					6																	46107712		2203	4299	6502	SO:0001583	missense	22875					integral to membrane	hydrolase activity	g.chr6:46107712G>A	AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.392G>A	6.37:g.46107712G>A	ENSP00000318066:p.Ser131Asn						p.S131N	NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN			2	651	+			131			Extracellular (Potential).		A8K5G1|Q7L2N1	Missense_Mutation	SNP	ENST00000321037.4	37	c.392G>A	CCDS34468.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744192	0.69418	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	T	0.76448	-1.02	5.97	5.97	0.96955	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.079531	0.85682	D	0.000000	D	0.83110	0.5183	M	0.93978	3.48	0.48762	D	0.9997	P	0.37207	0.587	B	0.39027	0.288	D	0.86122	0.1569	10	0.72032	D	0.01	-26.6217	20.4387	0.99107	0.0:0.0:1.0:0.0	.	131	Q9Y6X5	ENPP4_HUMAN	N	131	ENSP00000318066:S131N	ENSP00000318066:S131N	S	+	2	0	ENPP4	46215671	1.000000	0.71417	0.958000	0.39756	0.997000	0.91878	6.778000	0.75043	2.836000	0.97738	0.655000	0.94253	AGT		0.413	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2			37	54	0	0	0	0	37	54				
KIAA1586	57691	broad.mit.edu	37	6	56917579	56917579	+	Silent	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:56917579C>T	ENST00000370733.4	+	4	489	c.282C>T	c.(280-282)agC>agT	p.S94S	KIAA1586_ENST00000488682.1_3'UTR|KIAA1586_ENST00000545356.1_Silent_p.S67S	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	94							nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATGAAGTGAGCAAAAATCACT	0.338																																						uc003pdj.2		NA																	0					0						c.(280-282)AGC>AGT		hypothetical protein LOC57691							73.0	72.0	72.0					6																	56917579		2203	4300	6503	SO:0001819	synonymous_variant	57691						nucleic acid binding	g.chr6:56917579C>T	AB046806	CCDS34480.1, CCDS69138.1	6p12.1	2014-03-27			ENSG00000168116	ENSG00000168116			21360	protein-coding gene	gene with protein product						10997877	Standard	NM_001286274		Approved		uc003pdj.3	Q9HCI6	OTTHUMG00000014915	ENST00000370733.4:c.282C>T	6.37:g.56917579C>T						KIAA1586_uc011dxm.1_Silent_p.S67S	p.S94S	NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		4	452	+	Lung NSC(77;0.0969)		94					A8K4M3|Q8IW25	Silent	SNP	ENST00000370733.4	37	c.282C>T	CCDS34480.1																																																																																				0.338	KIAA1586-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041033.1	NM_020931		10	42	0	0	0	0	10	42				
LGSN	51557	broad.mit.edu	37	6	63990178	63990178	+	Silent	SNP	G	G	A	rs572903370		TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:63990178G>A	ENST00000370657.4	-	4	1311	c.1278C>T	c.(1276-1278)gcC>gcT	p.A426A	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	426					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CATCTAAGCCGGCAGCAACAG	0.453																																						uc003peh.2		NA																	0				skin(2)	2						c.(1276-1278)GCC>GCT		lengsin, lens protein with glutamine synthetase	L-Glutamic Acid(DB00142)						67.0	69.0	68.0					6																	63990178		2203	4300	6503	SO:0001819	synonymous_variant	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990178G>A	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.1278C>T	6.37:g.63990178G>A						LGSN_uc003pei.2_3'UTR	p.A426A	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN			4	1312	-			426					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Silent	SNP	ENST00000370657.4	37	c.1278C>T	CCDS4964.1																																																																																				0.453	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		14	53	0	0	0	0	14	53				
HTR1E	3354	broad.mit.edu	37	6	87725635	87725635	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:87725635T>A	ENST00000305344.5	+	2	1286	c.583T>A	c.(583-585)Ttg>Atg	p.L195M		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	195					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.P194fs*20(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TTATATCCCCTTGACTTTGAT	0.507																																						uc003pli.2		NA																	1	Deletion - Frameshift(1)		breast(1)	ovary(2)|skin(1)	3						c.(583-585)TTG>ATG		5-hydroxytryptamine (serotonin) receptor 1E	Eletriptan(DB00216)						107.0	102.0	104.0					6																	87725635		2203	4300	6503	SO:0001583	missense	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725635T>A		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.583T>A	6.37:g.87725635T>A	ENSP00000307766:p.Leu195Met						p.L195M	NM_000865	NP_000856	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1286	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	195			Helical; Name=5; (By similarity).		E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37	c.583T>A	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	T	14.31	2.497291	0.44455	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.47528	0.84;0.84	4.33	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	0.094728	0.40385	U	0.001118	T	0.31888	0.0811	L	0.55481	1.735	0.40476	D	0.980393	P	0.42456	0.78	B	0.40782	0.34	T	0.22521	-1.0214	10	0.46703	T	0.11	.	13.484	0.61355	0.0:0.0:0.0:1.0	.	195	P28566	5HT1E_HUMAN	M	195	ENSP00000307766:L195M;ENSP00000358597:L195M	ENSP00000307766:L195M	L	+	1	2	HTR1E	87782354	0.999000	0.42202	0.996000	0.52242	0.934000	0.57294	3.138000	0.50570	1.599000	0.50093	0.332000	0.21555	TTG		0.507	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		9	34	0	0	0	0	9	34				
SIM1	6492	broad.mit.edu	37	6	100838914	100838914	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:100838914C>T	ENST00000369208.3	-	12	2406	c.1624G>A	c.(1624-1626)Gcc>Acc	p.A542T	SIM1_ENST00000262901.4_Missense_Mutation_p.A542T			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	542	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GATTCACTGGCCGACCCAGGG	0.438																																						uc003pqj.3		NA																	0				ovary(4)	4						c.(1624-1626)GCC>ACC		single-minded homolog 1							71.0	74.0	73.0					6																	100838914		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100838914C>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1624G>A	6.37:g.100838914C>T	ENSP00000358210:p.Ala542Thr					SIM1_uc010kcu.2_Missense_Mutation_p.A542T	p.A542T	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	11	1831	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	542			Single-minded C-terminal.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.1624G>A	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.164227	0.38217	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.30714	1.52;1.52	5.9	5.9	0.94986	Single-minded, C-terminal (2);	0.046749	0.85682	D	0.000000	T	0.11067	0.0270	N	0.14661	0.345	0.58432	D	0.999999	B	0.24426	0.103	B	0.22152	0.038	T	0.13072	-1.0523	10	0.17369	T	0.5	.	20.2789	0.98501	0.0:1.0:0.0:0.0	.	542	P81133	SIM1_HUMAN	T	542	ENSP00000358210:A542T;ENSP00000262901:A542T	ENSP00000262901:A542T	A	-	1	0	SIM1	100945635	0.987000	0.35691	1.000000	0.80357	0.808000	0.45660	2.333000	0.43912	2.788000	0.95919	0.650000	0.86243	GCC		0.438	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		4	55	0	0	0	0	4	55				
LAMA4	3910	broad.mit.edu	37	6	112510314	112510314	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:112510314A>G	ENST00000230538.7	-	7	1209	c.812T>C	c.(811-813)aTa>aCa	p.I271T	LAMA4_ENST00000522006.1_Intron|LAMA4_ENST00000389463.4_Intron|LAMA4_ENST00000424408.2_Intron|LAMA4_ENST00000524032.1_5'Flank	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	271	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ATTTTTACTTATGGTTGGGCA	0.468																																						uc003pvu.2		NA																	0				ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(811-813)ATA>ACA		laminin, alpha 4 isoform 1 precursor							92.0	90.0	90.0					6																	112510314		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112510314A>G		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.812T>C	6.37:g.112510314A>G	ENSP00000230538:p.Ile271Thr					LAMA4_uc003pvv.2_Intron|LAMA4_uc003pvt.2_Intron	p.I271T	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	7	1121	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	271			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.812T>C	CCDS43491.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.60|14.60	2.584983|2.584983	0.46110|0.46110	.|.	.|.	ENSG00000112769|ENSG00000112769	ENST00000230538;ENST00000454881;ENST00000521398|ENST00000368640	T;T|.	0.26660|.	2.71;1.72|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.162604|.	0.52532|.	D|.	0.000071|.	T|.	0.40522|.	0.1120|.	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	B|.	0.32245|.	0.361|.	B|.	0.31614|.	0.133|.	T|.	0.36065|.	-0.9763|.	10|.	0.17832|.	T|.	0.49|.	.|.	14.4708|14.4708	0.67514|0.67514	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	271|.	Q16363|.	LAMA4_HUMAN|.	T|Q	271|75	ENSP00000230538:I271T;ENSP00000430336:I271T|.	ENSP00000230538:I271T|.	I|X	-|-	2|1	0|0	LAMA4|LAMA4	112617007|112617007	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.354000|6.354000	0.73036|0.73036	2.219000|2.219000	0.72066|0.72066	0.533000|0.533000	0.62120|0.62120	ATA|TAA		0.468	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		4	21	0	0	0	0	4	21				
CEP85L	387119	broad.mit.edu	37	6	118887417	118887417	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:118887417T>C	ENST00000368491.3	-	3	916	c.295A>G	c.(295-297)Act>Gct	p.T99A	CEP85L_ENST00000472713.1_5'UTR|CEP85L_ENST00000360290.3_5'UTR|CEP85L_ENST00000392500.3_Missense_Mutation_p.T102A|CEP85L_ENST00000368488.5_Missense_Mutation_p.T102A|CEP85L_ENST00000419517.2_Missense_Mutation_p.T99A	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	99						centrosome (GO:0005813)|cytoplasm (GO:0005737)											ACATGGGCAGTAGGAAGAGTA	0.383																																						uc003pxz.1		NA																	0				breast(1)	1						c.(295-297)ACT>GCT		chromosome 6 open reading frame 204 isoform a							46.0	46.0	46.0					6																	118887417		2203	4299	6502	SO:0001583	missense	387119					centrosome		g.chr6:118887417T>C	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.295A>G	6.37:g.118887417T>C	ENSP00000357477:p.Thr99Ala					C6orf204_uc003pya.1_Missense_Mutation_p.T102A|C6orf204_uc003pyb.2_Missense_Mutation_p.T99A|C6orf204_uc011ebj.1_5'UTR|C6orf204_uc003pyc.2_Missense_Mutation_p.T102A|C6orf204_uc011ebl.1_5'UTR	p.T99A	NM_001042475	NP_001035940	Q5SZL2	CF204_HUMAN		GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618)	3	883	-		all_cancers(87;0.0814)|all_epithelial(87;0.115)	99					A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	ENST00000368491.3	37	c.295A>G	CCDS43498.1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.766457	0.69878	.	.	ENSG00000111860	ENST00000368491;ENST00000368488;ENST00000434604;ENST00000392500;ENST00000419517	T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93	5.96	5.96	0.96718	.	0.149783	0.50627	D	0.000115	T	0.22820	0.0551	L	0.46819	1.47	0.41431	D	0.98786	P;P;P;P	0.51537	0.946;0.884;0.884;0.884	P;B;B;B	0.52758	0.708;0.41;0.41;0.41	T	0.02728	-1.1118	10	0.52906	T	0.07	-14.997	10.7328	0.46107	0.0:0.0704:0.0:0.9296	.	102;99;102;99	Q5SZL2-2;G3V0H3;F8W6J2;Q5SZL2	.;.;.;CF204_HUMAN	A	99;102;102;102;99	ENSP00000357477:T99A;ENSP00000357474:T102A;ENSP00000392131:T102A;ENSP00000376288:T102A;ENSP00000393317:T99A	ENSP00000357474:T102A	T	-	1	0	C6orf204	118994110	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.988000	0.63863	2.285000	0.76669	0.533000	0.62120	ACT		0.383	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		6	27	0	0	0	0	6	27				
OLIG3	167826	broad.mit.edu	37	6	137815177	137815177	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:137815177T>C	ENST00000367734.2	-	1	354	c.131A>G	c.(130-132)cAg>cGg	p.Q44R		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	44					spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		CATATCGCCCTGCGTGGACGA	0.607																																						uc003qhp.1		NA																	0					0						c.(130-132)CAG>CGG		oligodendrocyte transcription factor 3							69.0	73.0	72.0					6																	137815177		2203	4300	6503	SO:0001583	missense	167826				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:137815177T>C	AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"""Basic helix-loop-helix proteins"""	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.131A>G	6.37:g.137815177T>C	ENSP00000356708:p.Gln44Arg						p.Q44R	NM_175747	NP_786923	Q7RTU3	OLIG3_HUMAN		GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)	1	355	-	Breast(32;0.165)|Colorectal(23;0.24)		44					Q8N8Q0	Missense_Mutation	SNP	ENST00000367734.2	37	c.131A>G	CCDS5186.1	.	.	.	.	.	.	.	.	.	.	T	18.14	3.558672	0.65538	.	.	ENSG00000177468	ENST00000367734	D	0.99454	-5.92	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000007	D	0.95837	0.8645	L	0.27053	0.805	0.58432	D	0.999996	B	0.33694	0.421	B	0.24701	0.055	D	0.98276	1.0506	10	0.15952	T	0.53	-9.9523	15.6812	0.77371	0.0:0.0:0.0:1.0	.	44	Q7RTU3	OLIG3_HUMAN	R	44	ENSP00000356708:Q44R	ENSP00000356708:Q44R	Q	-	2	0	OLIG3	137856870	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.812000	0.86109	2.095000	0.63458	0.482000	0.46254	CAG		0.607	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	NM_175747		35	63	0	0	0	0	35	63				
CDCA7L	55536	broad.mit.edu	37	7	21947962	21947962	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr7:21947962T>G	ENST00000406877.3	-	4	746	c.467A>C	c.(466-468)aAa>aCa	p.K156T	CDCA7L_ENST00000373934.4_Missense_Mutation_p.K110T|CDCA7L_ENST00000356195.5_Missense_Mutation_p.K122T|CDCA7L_ENST00000465490.1_5'UTR	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	156					positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						TTTATCTGGTTTGTTGGCCAG	0.423																																						uc010kuk.2		NA																	0					0						c.(466-468)AAA>ACA		cell division cycle associated 7-like isoform 1							112.0	101.0	105.0					7																	21947962		2203	4300	6503	SO:0001583	missense	55536				positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus		g.chr7:21947962T>G		CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.467A>C	7.37:g.21947962T>G	ENSP00000383986:p.Lys156Thr					CDCA7L_uc003sve.3_Missense_Mutation_p.K122T|CDCA7L_uc010kul.2_Missense_Mutation_p.K110T|CDCA7L_uc003svf.3_Missense_Mutation_p.K155T|CDCA7L_uc011jyk.1_Missense_Mutation_p.K156T	p.K156T	NM_018719	NP_061189	Q96GN5	CDA7L_HUMAN			4	587	-			156					A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Missense_Mutation	SNP	ENST00000406877.3	37	c.467A>C	CCDS5374.1	.	.	.	.	.	.	.	.	.	.	T	12.89	2.074796	0.36566	.	.	ENSG00000164649	ENST00000356195;ENST00000406877;ENST00000373934;ENST00000457951	T;T;T;T	0.49139	0.9;0.9;0.88;0.79	5.75	-3.28	0.05033	.	1.138620	0.06279	N	0.697071	T	0.36717	0.0977	L	0.35854	1.095	0.09310	N	1	B;B;B;B	0.11235	0.002;0.002;0.002;0.004	B;B;B;B	0.09377	0.003;0.002;0.002;0.004	T	0.30966	-0.9960	10	0.35671	T	0.21	-15.9976	11.3333	0.49490	0.0:0.0678:0.6009:0.3313	.	156;110;156;155	A8K8X5;C9K0Y1;Q96GN5;Q96GN5-2	.;.;CDA7L_HUMAN;.	T	122;156;110;109	ENSP00000348523:K122T;ENSP00000383986:K156T;ENSP00000363045:K110T;ENSP00000406616:K109T	ENSP00000348523:K122T	K	-	2	0	CDCA7L	21914487	0.000000	0.05858	0.000000	0.03702	0.283000	0.27025	0.598000	0.24074	-0.841000	0.04200	0.533000	0.62120	AAA		0.423	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719		4	59	0	0	0	0	4	59				
STK31	56164	broad.mit.edu	37	7	23809341	23809341	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr7:23809341C>A	ENST00000355870.3	+	13	1798	c.1679C>A	c.(1678-1680)tCa>tAa	p.S560*	STK31_ENST00000354639.3_Nonsense_Mutation_p.S537*|STK31_ENST00000428484.1_Nonsense_Mutation_p.S537*|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Nonsense_Mutation_p.S560*	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	560						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAGACTGAGTCAAGTGTCTGC	0.378																																						uc003sws.3		NA																	0				skin(3)|lung(2)|ovary(2)|stomach(2)	9						c.(1678-1680)TCA>TAA		serine/threonine kinase 31 isoform a							204.0	200.0	201.0					7																	23809341		2203	4300	6503	SO:0001587	stop_gained	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23809341C>A	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.1679C>A	7.37:g.23809341C>A	ENSP00000348132:p.Ser560*					STK31_uc003swt.3_Nonsense_Mutation_p.S537*|STK31_uc011jze.1_Nonsense_Mutation_p.S560*|STK31_uc010kuq.2_Nonsense_Mutation_p.S537*	p.S560*	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN			13	1746	+			560					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Nonsense_Mutation	SNP	ENST00000355870.3	37	c.1679C>A	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	C	41	8.544194	0.98857	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	.	.	.	5.27	3.44	0.39384	.	0.373659	0.25532	N	0.030025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-1.1316	6.7679	0.23576	0.0:0.6917:0.1614:0.1469	.	.	.	.	X	560;560;537;537	.	ENSP00000346660:S537X	S	+	2	0	STK31	23775866	0.921000	0.31238	1.000000	0.80357	0.990000	0.78478	1.222000	0.32515	1.221000	0.43506	0.655000	0.94253	TCA		0.378	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		36	96	1	0	3.21e-22	6.58e-22	36	96				
HECW1	23072	broad.mit.edu	37	7	43590145	43590145	+	Silent	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr7:43590145C>T	ENST00000395891.2	+	27	4955	c.4350C>T	c.(4348-4350)cgC>cgT	p.R1450R	HECW1_ENST00000453890.1_Silent_p.R1416R	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1450	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGGTGGAGCGCGGCGTGGTAC	0.627																																						uc003tid.1		NA																	0				ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(4348-4350)CGC>CGT		NEDD4-like ubiquitin-protein ligase 1							59.0	67.0	64.0					7																	43590145		2178	4280	6458	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43590145C>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.4350C>T	7.37:g.43590145C>T						HECW1_uc011kbi.1_Silent_p.R1416R	p.R1450R	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			27	4955	+			1450			HECT.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.4350C>T	CCDS5469.2																																																																																				0.627	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		8	6	0	0	0	0	8	6				
SEMA3C	10512	broad.mit.edu	37	7	80432017	80432017	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr7:80432017C>T	ENST00000265361.3	-	9	1441	c.880G>A	c.(880-882)Gat>Aat	p.D294N	SEMA3C_ENST00000544525.1_Missense_Mutation_p.D312N|SEMA3C_ENST00000419255.2_Missense_Mutation_p.D294N|SEMA3C_ENST00000536800.1_Missense_Mutation_p.D146N	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	294	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CCGTCTTCATCTGTTACCGAG	0.383																																						uc003uhj.2		NA																	0				ovary(1)	1						c.(880-882)GAT>AAT		semaphorin 3C precursor							120.0	110.0	113.0					7																	80432017		2203	4300	6503	SO:0001583	missense	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80432017C>T	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.880G>A	7.37:g.80432017C>T	ENSP00000265361:p.Asp294Asn					SEMA3C_uc011kgw.1_Missense_Mutation_p.D312N|SEMA3C_uc011kgx.1_Missense_Mutation_p.D146N	p.D294N	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			9	1442	-			294			Sema.		B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.880G>A	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	C	35	5.425763	0.96131	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525;ENST00000536800	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.49	5.49	0.81192	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.045183	0.85682	D	0.000000	T	0.33000	0.0848	L	0.48642	1.525	0.80722	D	1	P;P;P	0.41188	0.654;0.696;0.741	P;B;P	0.48654	0.585;0.333;0.464	T	0.01879	-1.1255	10	0.59425	D	0.04	.	19.3601	0.94434	0.0:1.0:0.0:0.0	.	146;312;294	B4DRL8;F5H1Z7;Q99985	.;.;SEM3C_HUMAN	N	294;294;312;146	ENSP00000265361:D294N;ENSP00000411193:D294N;ENSP00000445649:D312N;ENSP00000438258:D146N	ENSP00000265361:D294N	D	-	1	0	SEMA3C	80269953	1.000000	0.71417	0.827000	0.32855	0.975000	0.68041	7.802000	0.85969	2.581000	0.87130	0.585000	0.79938	GAT		0.383	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		6	69	0	0	0	0	6	69				
PCLO	27445	broad.mit.edu	37	7	82784624	82784624	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr7:82784624C>A	ENST00000333891.9	-	2	1670	c.1333G>T	c.(1333-1335)Ggg>Tgg	p.G445W	PCLO_ENST00000423517.2_Missense_Mutation_p.G445W	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTCCTGGCCCAGGCTGCTGA	0.577																																						uc003uhx.2		NA																	0				ovary(7)	7						c.(1333-1335)GGG>TGG		piccolo isoform 1							81.0	82.0	82.0					7																	82784624		1980	4156	6136	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82784624C>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1333G>T	7.37:g.82784624C>A	ENSP00000334319:p.Gly445Trp					PCLO_uc003uhv.2_Missense_Mutation_p.G445W	p.G445W	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			2	1622	-			396			Gln-rich.|Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.1333G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	2.872	-0.233703	0.05983	.	.	ENSG00000186472	ENST00000333891;ENST00000423517	T;T	0.22336	1.96;2.01	4.98	4.98	0.66077	.	.	.	.	.	T	0.34600	0.0903	L	0.39898	1.24	0.34770	D	0.733596	D;D	0.65815	0.995;0.995	D;D	0.65773	0.938;0.938	T	0.43956	-0.9359	9	0.87932	D	0	.	12.054	0.53524	0.0:0.9205:0.0:0.0795	.	445;445	Q9Y6V0-5;Q9Y6V0-6	.;.	W	445	ENSP00000334319:G445W;ENSP00000388393:G445W	ENSP00000334319:G445W	G	-	1	0	PCLO	82622560	0.625000	0.27111	0.012000	0.15200	0.032000	0.12392	0.878000	0.28126	2.498000	0.84270	0.655000	0.94253	GGG		0.577	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		46	87	1	0	1.85e-21	3.77e-21	46	87				
AKAP9	10142	broad.mit.edu	37	7	91691800	91691800	+	Splice_Site	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr7:91691800C>T	ENST00000359028.2	+	25	6238	c.6013C>T	c.(6013-6015)Caa>Taa	p.Q2005*	AKAP9_ENST00000491695.1_3'UTR|AKAP9_ENST00000356239.3_Splice_Site_p.Q1993*|AKAP9_ENST00000358100.2_Splice_Site_p.Q2005*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2005	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGTTGAACAACGTAAGTATTT	0.393			T	BRAF	papillary thyroid																																	uc003ulg.2		NA		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(5977-5979)CAA>TAA		A-kinase anchor protein 9 isoform 2							67.0	62.0	64.0					7																	91691800		2203	4300	6503	SO:0001630	splice_region_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91691800C>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.6013+1C>T	7.37:g.91691800C>T						AKAP9_uc003ulf.2_Nonsense_Mutation_p.Q1993*|AKAP9_uc003uli.2_Nonsense_Mutation_p.Q1616*	p.Q1993*	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		24	6202	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		2005			Potential.|Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Nonsense_Mutation	SNP	ENST00000359028.2	37	c.5977C>T		.	.	.	.	.	.	.	.	.	.	C	47	13.641903	0.99754	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000265737	.	.	.	5.25	5.25	0.73442	.	0.000000	0.40064	N	0.001190	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	14.1033	0.65072	0.1504:0.8496:0.0:0.0	.	.	.	.	X	1993;2005;2005;2005;208	.	ENSP00000265737:Q208X	Q	+	1	0	AKAP9	91529736	0.997000	0.39634	0.998000	0.56505	0.971000	0.66376	2.058000	0.41374	2.612000	0.88384	0.655000	0.94253	CAA		0.393	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	Nonsense_Mutation	5	56	0	0	0	0	5	56				
COL1A2	1278	broad.mit.edu	37	7	94054509	94054509	+	Silent	SNP	C	C	T	rs375719762		TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr7:94054509C>T	ENST00000297268.6	+	42	3225	c.2754C>T	c.(2752-2754)aaC>aaT	p.N918N		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	918					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTGGAGTCAACGGTGCTCCTG	0.522										HNSCC(75;0.22)			C|||	1	0.000199681	0.0008	0.0	5008	,	,		18272	0.0		0.0	False		,,,				2504	0.0					uc003ung.1		NA																COL1A2/PLAG1(3)	0				soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(2752-2754)AAC>AAT		alpha 2 type I collagen precursor	Collagenase(DB00048)	C		2,4404	4.2+/-10.8	0,2,2201	150.0	143.0	146.0		2754	-8.7	0.6	7		146	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	COL1A2	NM_000089.3		0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231		918/1367	94054509	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94054509C>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2754C>T	7.37:g.94054509C>T		HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron	p.N918N	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		42	3225	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		918					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	ENST00000297268.6	37	c.2754C>T	CCDS34682.1																																																																																				0.522	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		4	43	0	0	0	0	4	43				
TRRAP	8295	broad.mit.edu	37	7	98567840	98567840	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr7:98567840C>T	ENST00000359863.4	+	51	7806	c.7597C>T	c.(7597-7599)Cgt>Tgt	p.R2533C	TRRAP_ENST00000355540.3_Missense_Mutation_p.R2515C|TRRAP_ENST00000446306.3_Missense_Mutation_p.R2515C	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2533					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TAGCCACGACCGTGCCGCCTT	0.632																																						uc003upp.2		NA																	0				ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(7597-7599)CGT>TGT		transformation/transcription domain-associated							103.0	93.0	97.0					7																	98567840		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98567840C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.7597C>T	7.37:g.98567840C>T	ENSP00000352925:p.Arg2533Cys					TRRAP_uc011kis.1_Missense_Mutation_p.R2515C|TRRAP_uc003upr.2_Missense_Mutation_p.R2232C	p.R2533C	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		51	7806	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		2533					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.7597C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.340445	0.81911	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.03152	4.03;4.03	5.85	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.08179	0.0204	L	0.48642	1.525	0.80722	D	1	D;D;D	0.69078	0.997;0.987;0.987	P;P;P	0.49953	0.627;0.505;0.528	T	0.05989	-1.0852	10	0.72032	D	0.01	.	14.7708	0.69675	0.2763:0.7237:0.0:0.0	.	2515;2254;2533	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	C	2533;2515;2514	ENSP00000352925:R2533C;ENSP00000347733:R2515C	ENSP00000347733:R2515C	R	+	1	0	TRRAP	98405776	1.000000	0.71417	0.990000	0.47175	0.533000	0.34776	5.012000	0.64017	1.446000	0.47643	0.655000	0.94253	CGT		0.632	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		22	74	0	0	0	0	22	74				
ZKSCAN5	23660	broad.mit.edu	37	7	99128782	99128782	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr7:99128782C>G	ENST00000394170.2	+	7	1681	c.1430C>G	c.(1429-1431)tCa>tGa	p.S477*	ZKSCAN5_ENST00000451158.1_Nonsense_Mutation_p.S477*|ZKSCAN5_ENST00000326775.5_Nonsense_Mutation_p.S477*	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	477					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAGAAAATTTCAGAATATTCA	0.323																																						uc003uqv.2		NA																	0				ovary(1)	1						c.(1429-1431)TCA>TGA		zinc finger with KRAB and SCAN domains 5							104.0	120.0	115.0					7																	99128782		2203	4300	6503	SO:0001587	stop_gained	23660				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99128782C>G	AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.1430C>G	7.37:g.99128782C>G	ENSP00000377725:p.Ser477*					ZKSCAN5_uc010lfx.2_Nonsense_Mutation_p.S477*|ZKSCAN5_uc003uqw.2_Nonsense_Mutation_p.S477*|ZKSCAN5_uc003uqx.2_Nonsense_Mutation_p.S404*|ZKSCAN5_uc003uqy.2_Nonsense_Mutation_p.S213*	p.S477*	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN			7	1554	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		477					A4D280|D6W5S9	Nonsense_Mutation	SNP	ENST00000394170.2	37	c.1430C>G	CCDS5667.1	.	.	.	.	.	.	.	.	.	.	C	36	5.713465	0.96830	.	.	ENSG00000196652	ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170	.	.	.	4.96	3.18	0.36537	.	0.484357	0.17595	N	0.168620	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	7.6863	0.28542	0.0:0.811:0.0:0.189	.	.	.	.	X	477	.	ENSP00000322872:S477X	S	+	2	0	ZKSCAN5	98966718	0.000000	0.05858	0.970000	0.41538	0.994000	0.84299	0.505000	0.22642	0.820000	0.34516	0.591000	0.81541	TCA		0.323	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569		11	145	0	0	0	0	11	145				
ACHE	43	broad.mit.edu	37	7	100491265	100491265	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr7:100491265C>G	ENST00000412389.1	-	1	744	c.589G>C	c.(589-591)Gag>Cag	p.E197Q	ACHE_ENST00000411582.1_Missense_Mutation_p.E197Q|ACHE_ENST00000302913.4_Missense_Mutation_p.E197Q|ACHE_ENST00000497647.1_5'Flank|ACHE_ENST00000419336.2_Missense_Mutation_p.E197Q|ACHE_ENST00000241069.5_Missense_Mutation_p.E197Q|ACHE_ENST00000428317.1_Missense_Mutation_p.E197Q			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	197					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	CCCGGGGCCTCTCGGCTCCCC	0.652																																						uc003uxd.2		NA																	0				skin(2)	2						c.(589-591)GAG>CAG		acetylcholinesterase isoform E4-E6 precursor	Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)						44.0	50.0	48.0					7																	100491265		2202	4297	6499	SO:0001583	missense	43				acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity	g.chr7:100491265C>G		CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"""Blood group antigens"""	108	protein-coding gene	gene with protein product	"""Yt blood group"""	100740	"""acetylcholinesterase (YT blood group)"", ""acetylcholinesterase (Yt blood group)"", ""acetylcholinesterase"""	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.589G>C	7.37:g.100491265C>G	ENSP00000394976:p.Glu197Gln					ACHE_uc003uxe.2_Missense_Mutation_p.E197Q|ACHE_uc003uxf.2_Missense_Mutation_p.E197Q|ACHE_uc003uxg.2_Missense_Mutation_p.E197Q|ACHE_uc003uxh.2_Missense_Mutation_p.E197Q|ACHE_uc003uxi.2_Missense_Mutation_p.E197Q|ACHE_uc003uxj.1_Missense_Mutation_p.E316Q	p.E197Q	NM_000665	NP_000656	P22303	ACES_HUMAN			1	745	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		197					A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Missense_Mutation	SNP	ENST00000412389.1	37	c.589G>C	CCDS5709.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821019	0.50633	.	.	ENSG00000087085	ENST00000419336;ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000426415;ENST00000430554;ENST00000411582;ENST00000422451	T;T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.13	4.22	0.49857	Carboxylesterase, type B (1);	0.102279	0.64402	D	0.000003	T	0.64907	0.2641	L	0.47190	1.495	0.52501	D	0.999955	D;D;D;D	0.61697	0.99;0.986;0.989;0.983	P;P;B;P	0.47891	0.56;0.546;0.378;0.56	T	0.68119	-0.5493	10	0.72032	D	0.01	.	12.3739	0.55269	0.1703:0.8297:0.0:0.0	.	197;197;197;197	B7WPI6;P22303-3;P22303-2;P22303	.;.;.;ACES_HUMAN	Q	197	ENSP00000403474:E197Q;ENSP00000241069:E197Q;ENSP00000414858:E197Q;ENSP00000303211:E197Q;ENSP00000394976:E197Q;ENSP00000397143:E197Q;ENSP00000399725:E197Q;ENSP00000404865:E197Q	ENSP00000241069:E197Q	E	-	1	0	ACHE	100329201	0.989000	0.36119	1.000000	0.80357	0.715000	0.41141	3.017000	0.49615	1.084000	0.41184	0.491000	0.48974	GAG		0.652	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1	NM_015831		20	86	0	0	0	0	20	86				
RAB19	401409	broad.mit.edu	37	7	140125753	140125753	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr7:140125753G>T	ENST00000356407.3	+	3	525	c.457G>T	c.(457-459)Ggc>Tgc	p.G153C	RAB19_ENST00000537763.1_Missense_Mutation_p.G153C|RAB19_ENST00000275874.5_Missense_Mutation_p.G200C			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	153					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					TGAGAAGTACGGCCTCCTGGC	0.522																																						uc010lni.2		NA																	0					0						c.(457-459)GGC>TGC		RAB19, member RAS oncogene family							105.0	108.0	107.0					7																	140125753		2203	4300	6503	SO:0001583	missense	401409				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr7:140125753G>T		CCDS34762.1, CCDS34762.2	7q34	2014-05-09			ENSG00000146955	ENSG00000146955		"""RAB, member RAS oncogene"""	19982	protein-coding gene	gene with protein product							Standard	NM_001008749		Approved	RAB19B	uc010lni.2	A4D1S5	OTTHUMG00000157410	ENST00000356407.3:c.457G>T	7.37:g.140125753G>T	ENSP00000348778:p.Gly153Cys					RAB19_uc011krc.1_Missense_Mutation_p.G153C	p.G153C	NM_001008749	NP_001008749	A4D1S5	RAB19_HUMAN			4	655	+	Melanoma(164;0.0142)		153					A4D1S6|B2RTS6|B5MDR2|Q9UL27	Missense_Mutation	SNP	ENST00000356407.3	37	c.457G>T	CCDS34762.2	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532079	0.85812	.	.	ENSG00000146955	ENST00000275874;ENST00000537763;ENST00000356407	D;D;D	0.82711	-1.64;-1.64;-1.64	5.53	4.65	0.58169	Small GTP-binding protein domain (1);	0.046876	0.85682	D	0.000000	D	0.87993	0.6318	L	0.49640	1.575	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87116	0.2188	9	.	.	.	.	14.46	0.67442	0.0709:0.0:0.9291:0.0	.	153	A4D1S5	RAB19_HUMAN	C	200;153;153	ENSP00000275874:G200C;ENSP00000440167:G153C;ENSP00000348778:G153C	.	G	+	1	0	RAB19	139772222	1.000000	0.71417	0.974000	0.42286	0.985000	0.73830	4.201000	0.58439	1.347000	0.45714	0.561000	0.74099	GGC		0.522	RAB19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348740.1			42	87	1	0	1.63e-23	3.35e-23	42	87				
DPP6	1804	broad.mit.edu	37	7	154561126	154561126	+	Splice_Site	SNP	G	G	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr7:154561126G>C	ENST00000377770.3	+	9	1024		c.e9-1		DPP6_ENST00000332007.3_Splice_Site|DPP6_ENST00000404039.1_Splice_Site|DPP6_ENST00000427557.1_Splice_Site			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6						cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TTTTCCCTTAGAGGAGATTTT	0.512																																					NSCLC(125;1384 1783 2490 7422 34254)	uc003wlk.2		NA																	0				pancreas(3)|breast(1)	4						c.e9-1		dipeptidyl-peptidase 6 isoform 1							85.0	85.0	85.0					7																	154561126		1978	4162	6140	SO:0001630	splice_region_variant	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154561126G>C	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.884-1G>C	7.37:g.154561126G>C						DPP6_uc003wli.2_Splice_Site_p.E231_splice|DPP6_uc003wlm.2_Splice_Site_p.E233_splice|DPP6_uc011kvq.1_Splice_Site_p.E188_splice	p.E295_splice	NM_130797	NP_570629	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		9	1013	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)							Splice_Site	SNP	ENST00000377770.3	37	c.884_splice		.	.	.	.	.	.	.	.	.	.	G	20.2	3.951872	0.73787	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9302	0.92561	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DPP6	154192059	1.000000	0.71417	0.995000	0.50966	0.630000	0.37929	9.458000	0.97634	2.469000	0.83416	0.655000	0.94253	.		0.512	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797	Intron	8	71	0	0	0	0	8	71				
CLN8	2055	broad.mit.edu	37	8	1719415	1719415	+	Silent	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr8:1719415C>T	ENST00000331222.4	+	2	442	c.195C>T	c.(193-195)gaC>gaT	p.D65D		NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	65	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				adult walking behavior (GO:0007628)|age-dependent response to oxidative stress (GO:0001306)|associative learning (GO:0008306)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|ceramide biosynthetic process (GO:0046513)|ceramide metabolic process (GO:0006672)|cholesterol metabolic process (GO:0008203)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|lipid biosynthetic process (GO:0008610)|lipid transport (GO:0006869)|lysosome organization (GO:0007040)|mitochondrial membrane organization (GO:0007006)|musculoskeletal movement (GO:0050881)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteolysis (GO:0045861)|negative regulation of transferase activity (GO:0051348)|nervous system development (GO:0007399)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|phospholipid metabolic process (GO:0006644)|photoreceptor cell maintenance (GO:0045494)|protein catabolic process (GO:0030163)|regulation of cell size (GO:0008361)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic motor neuron differentiation (GO:0021523)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		TCTTCTGGGACCTGGCGGCCA	0.612																																					Pancreas(155;338 1942 6138 10888 50612)	uc003wpo.3		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(193-195)GAC>GAT		ceroid-lipofuscinosis, neuronal 8							96.0	85.0	89.0					8																	1719415		2203	4300	6503	SO:0001819	synonymous_variant	2055				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane		g.chr8:1719415C>T	AF123761	CCDS5956.1	8p23.3	2014-09-17			ENSG00000182372	ENSG00000182372			2079	protein-coding gene	gene with protein product		607837	"""chromosome 8 open reading frame 61"""	EPMR, C8orf61		10508524	Standard	NM_018941		Approved	FLJ39417	uc003wpo.4	Q9UBY8	OTTHUMG00000090343	ENST00000331222.4:c.195C>T	8.37:g.1719415C>T							p.D65D	NM_018941	NP_061764	Q9UBY8	CLN8_HUMAN		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)	2	500	+		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)	65			TLC.|Helical; (Potential).		Q86U71|Q96I95	Silent	SNP	ENST00000331222.4	37	c.195C>T	CCDS5956.1																																																																																				0.612	CLN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206715.2	NM_018941		11	42	0	0	0	0	11	42				
MYOM2	9172	broad.mit.edu	37	8	2044180	2044180	+	Missense_Mutation	SNP	C	C	T	rs149624495	byFrequency	TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr8:2044180C>T	ENST00000262113.4	+	18	2360	c.2219C>T	c.(2218-2220)tCg>tTg	p.S740L	MYOM2_ENST00000523438.1_Missense_Mutation_p.S165L	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	740	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AGTGGTGGCTCGCCCATCCTG	0.557																																						uc003wpx.3		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(2218-2220)TCG>TTG		myomesin 2		C	LEU/SER	0,4406		0,0,2203	97.0	86.0	90.0		2219	5.5	0.0	8	dbSNP_134	90	5,8595	4.3+/-15.6	0,5,4295	yes	missense	MYOM2	NM_003970.2	145	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	possibly-damaging	740/1466	2044180	5,13001	2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2044180C>T		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2219C>T	8.37:g.2044180C>T	ENSP00000262113:p.Ser740Leu					MYOM2_uc011kwi.1_Missense_Mutation_p.S165L	p.S740L	NM_003970	NP_003961	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	18	2357	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	740			Fibronectin type-III 4.		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.2219C>T	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.570460	0.65765	0.0	5.81E-4	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.59224	0.28;0.28	5.47	5.47	0.80525	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.597033	0.17697	N	0.165078	T	0.70815	0.3267	M	0.78801	2.425	0.43385	D	0.995494	P	0.40282	0.711	P	0.47786	0.557	T	0.71774	-0.4491	10	0.49607	T	0.09	.	19.3222	0.94246	0.0:1.0:0.0:0.0	.	740	P54296	MYOM2_HUMAN	L	740;165	ENSP00000262113:S740L;ENSP00000428396:S165L	ENSP00000262113:S740L	S	+	2	0	MYOM2	2031587	0.794000	0.28838	0.010000	0.14722	0.080000	0.17528	7.154000	0.77437	2.560000	0.86352	0.561000	0.74099	TCG		0.557	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		36	46	0	0	0	0	36	46				
CSMD1	64478	broad.mit.edu	37	8	4494992	4494992	+	Silent	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr8:4494992G>A	ENST00000520002.1	-	2	729	c.174C>T	c.(172-174)tgC>tgT	p.C58C	CSMD1_ENST00000602723.1_Silent_p.C58C|CSMD1_ENST00000400186.3_Silent_p.C58C|CSMD1_ENST00000542608.1_Silent_p.C58C|CSMD1_ENST00000539096.1_Silent_p.C58C|CSMD1_ENST00000602557.1_Silent_p.C58C|CSMD1_ENST00000537824.1_Silent_p.C58C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	58	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.C58C(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGATCCAGGTGCAGTTGGCAT	0.478																																						uc011kwk.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(20)|large_intestine(5)	25						c.(172-174)TGC>TGT		CUB and Sushi multiple domains 1 precursor							113.0	115.0	114.0					8																	4494992		1955	4167	6122	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:4494992G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.174C>T	8.37:g.4494992G>A							p.C58C	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	2	564	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	58			Extracellular (Potential).|CUB 1.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.174C>T																																																																																					0.478	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		5	79	0	0	0	0	5	79				
SLC18A1	6570	broad.mit.edu	37	8	20008242	20008242	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr8:20008242C>A	ENST00000276373.5	-	11	1295	c.1029G>T	c.(1027-1029)ttG>ttT	p.L343F	SLC18A1_ENST00000265808.7_Missense_Mutation_p.L311F|SLC18A1_ENST00000381608.4_Missense_Mutation_p.L343F|SLC18A1_ENST00000440926.1_Missense_Mutation_p.L343F|SLC18A1_ENST00000519026.1_Missense_Mutation_p.L311F|SLC18A1_ENST00000437980.1_Missense_Mutation_p.L343F	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	343					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	CACTGGCAGGCAAGAAAGCTA	0.498																																						uc011kyq.1		NA																	0				ovary(2)	2						c.(1027-1029)TTG>TTT		solute carrier family 18 (vesicular monoamine),							174.0	147.0	156.0					8																	20008242		2203	4300	6503	SO:0001583	missense	6570				neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity	g.chr8:20008242C>A		CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"""Solute carriers"""	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.1029G>T	8.37:g.20008242C>A	ENSP00000276373:p.Leu343Phe					SLC18A1_uc003wzl.2_Missense_Mutation_p.L130F|SLC18A1_uc003wzm.2_Missense_Mutation_p.L343F|SLC18A1_uc011kyr.1_Missense_Mutation_p.L343F|SLC18A1_uc003wzn.2_Missense_Mutation_p.L311F|SLC18A1_uc010ltf.2_RNA|SLC18A1_uc003wzo.2_Missense_Mutation_p.L311F	p.L343F	NM_001135691	NP_001129163	P54219	VMAT1_HUMAN		Colorectal(74;0.0747)	12	1500	-			343			Helical; (Potential).		E9PDJ5|Q9BRE4	Missense_Mutation	SNP	ENST00000276373.5	37	c.1029G>T	CCDS6013.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.806588	0.31961	.	.	ENSG00000036565	ENST00000265808;ENST00000276373;ENST00000440926;ENST00000437980;ENST00000519026;ENST00000381608	T;T;T;T;T;T	0.58210	0.36;0.35;0.35;0.35;0.36;0.35	5.61	3.79	0.43588	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.281923	0.33610	N	0.004739	T	0.69504	0.3118	M	0.79693	2.465	0.58432	D	0.999995	D;D;D	0.89917	0.988;1.0;1.0	D;D;D	0.97110	0.923;1.0;1.0	T	0.69650	-0.5088	10	0.87932	D	0	-13.9105	7.2592	0.26193	0.1373:0.7112:0.0:0.1515	.	343;311;343	E9PB33;E9PDJ5;P54219	.;.;VMAT1_HUMAN	F	311;343;343;343;311;343	ENSP00000265808:L311F;ENSP00000276373:L343F;ENSP00000387549:L343F;ENSP00000413361:L343F;ENSP00000429664:L311F;ENSP00000371021:L343F	ENSP00000265808:L311F	L	-	3	2	SLC18A1	20052522	0.680000	0.27605	0.990000	0.47175	0.186000	0.23388	-0.184000	0.09698	0.698000	0.31739	0.462000	0.41574	TTG		0.498	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214106.1			20	70	1	0	1.56e-12	3.12e-12	20	70				
ENTPD4	9583	broad.mit.edu	37	8	23302048	23302048	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr8:23302048C>G	ENST00000358689.4	-	5	719	c.484G>C	c.(484-486)Gag>Cag	p.E162Q	ENTPD4_ENST00000417069.2_Missense_Mutation_p.E162Q|ENTPD4_ENST00000356206.6_Missense_Mutation_p.E162Q	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	162					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GGCACATGCTCTGCAGCAAAG	0.453																																						uc003xdl.2		NA																	0				ovary(1)|kidney(1)	2						c.(484-486)GAG>CAG		ectonucleoside triphosphate diphosphohydrolase 4							126.0	126.0	126.0					8																	23302048		2203	4300	6503	SO:0001583	missense	9583				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity	g.chr8:23302048C>G	AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"""lysosomal apyrase-like 1"""	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.484G>C	8.37:g.23302048C>G	ENSP00000351520:p.Glu162Gln					ENTPD4_uc011kzu.1_Missense_Mutation_p.E162Q|ENTPD4_uc003xdm.2_Missense_Mutation_p.E162Q|ENTPD4_uc011kzv.1_Missense_Mutation_p.E162Q|ENTPD4_uc011kzw.1_Missense_Mutation_p.E128Q	p.E162Q	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)	5	648	-		Prostate(55;0.114)	162			Lumenal (Potential).		D3DSS3|O15092	Missense_Mutation	SNP	ENST00000358689.4	37	c.484G>C	CCDS6041.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.55|16.55	3.155357|3.155357	0.57259|0.57259	.|.	.|.	ENSG00000197217|ENSG00000197217	ENST00000519839|ENST00000356206;ENST00000358689;ENST00000417069	.|T;T;T	.|0.12569	.|2.67;2.67;2.67	5.6|5.6	3.76|3.76	0.43208|0.43208	.|.	.|0.220724	.|0.48286	.|N	.|0.000189	.|T	.|0.06962	.|0.0177	N|N	0.11255|0.11255	0.115|0.115	0.40568|0.40568	D|D	0.981275|0.981275	.|B;B;B;B	.|0.19583	.|0.016;0.037;0.013;0.016	.|B;B;B;B	.|0.25405	.|0.014;0.06;0.012;0.021	.|T	.|0.32322	.|-0.9911	.|10	.|0.15952	.|T	.|0.53	.|-15.2364	8.5779|8.5779	0.33609|0.33609	0.0:0.6301:0.2915:0.0784|0.0:0.6301:0.2915:0.0784	.|.	.|162;162;162;162	.|B4DU21;Q8NE73;Q9Y227-2;Q9Y227	.|.;.;.;ENTP4_HUMAN	.|Q	-1|162	.|ENSP00000348536:E162Q;ENSP00000351520:E162Q;ENSP00000408573:E162Q	.|ENSP00000348536:E162Q	.|E	-|-	.|1	.|0	ENTPD4|ENTPD4	23357993|23357993	0.970000|0.970000	0.33590|0.33590	0.994000|0.994000	0.49952|0.49952	0.961000|0.961000	0.63080|0.63080	1.183000|1.183000	0.32041|0.32041	0.675000|0.675000	0.31264|0.31264	0.563000|0.563000	0.77884|0.77884	.|GAG		0.453	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	NM_004901		4	68	0	0	0	0	4	68				
STAR	6770	broad.mit.edu	37	8	38005823	38005823	+	Silent	SNP	G	G	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr8:38005823G>C	ENST00000276449.4	-	3	647	c.201C>G	c.(199-201)ctC>ctG	p.L67L	RP11-90P5.2_ENST00000520598.1_RNA	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	67	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				bile acid biosynthetic process (GO:0006699)|biphenyl metabolic process (GO:0018879)|brain development (GO:0007420)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth hormone stimulus (GO:0071378)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-alpha (GO:0035457)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to luteinizing hormone stimulus (GO:0071373)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cholesterol metabolic process (GO:0008203)|circadian sleep/wake cycle, REM sleep (GO:0042747)|dibenzo-p-dioxin metabolic process (GO:0018894)|diterpenoid metabolic process (GO:0016101)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|glucocorticoid metabolic process (GO:0008211)|insecticide metabolic process (GO:0017143)|intracellular cholesterol transport (GO:0032367)|male gonad development (GO:0008584)|negative regulation of neuron apoptotic process (GO:0043524)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of gene expression (GO:0010628)|positive regulation of neurogenesis (GO:0050769)|progesterone biosynthetic process (GO:0006701)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of steroid biosynthetic process (GO:0050810)|response to activity (GO:0014823)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to hydrogen peroxide (GO:0042542)|response to ionizing radiation (GO:0010212)|response to lead ion (GO:0010288)|response to leptin (GO:0044321)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytosol (GO:0005829)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	cholesterol binding (GO:0015485)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		GGTCACTGTAGAGAGTCTCTT	0.582																																						uc003xkv.1		NA																	0				ovary(1)	1						c.(199-201)CTC>CTG		steroidogenic acute regulatory protein isoform							59.0	49.0	53.0					8																	38005823		2203	4300	6503	SO:0001819	synonymous_variant	6770				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity	g.chr8:38005823G>C	BC010550	CCDS6102.1	8p11.2	2011-09-13	2007-05-15		ENSG00000147465	ENSG00000147465		"""StAR-related lipid transfer (START) domain containing"""	11359	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 1"""	600617	"""steroidogenic acute regulator"""			7761400	Standard	NM_000349		Approved	StAR, STARD1	uc003xkv.1	P49675	OTTHUMG00000164058	ENST00000276449.4:c.201C>G	8.37:g.38005823G>C						STAR_uc010lwc.1_Silent_p.L29L	p.L67L	NM_001007243	NP_001007244	P49675	STAR_HUMAN		READ - Rectum adenocarcinoma(644;0.188)	3	465	-	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)	67			START.		Q16396	Silent	SNP	ENST00000276449.4	37	c.201C>G	CCDS6102.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281999	0.23392	.	.	ENSG00000147465	ENST00000522050	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	T	0.70631	0.3246	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68610	-0.5363	4	.	.	.	-13.5274	14.3315	0.66559	0.0:0.0:0.8517:0.1483	.	.	.	.	C	46	.	.	S	-	2	0	STAR	38124980	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.221000	0.42917	2.676000	0.91093	0.561000	0.74099	TCT		0.582	STAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376990.2	NM_000349		3	24	0	0	0	0	3	24				
BAG4	9530	broad.mit.edu	37	8	38066593	38066593	+	Silent	SNP	A	A	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr8:38066593A>G	ENST00000287322.4	+	4	967	c.696A>G	c.(694-696)tcA>tcG	p.S232S	BAG4_ENST00000432471.2_Silent_p.S196S	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	232					cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to tumor necrosis factor (GO:0071356)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA modification (GO:0090367)|negative regulation of phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:2001145)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein localization to plasma membrane (GO:0072659)|ruffle assembly (GO:0097178)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				TTCCACAATCAGGACCGACTG	0.498																																						uc003xky.1		NA																	0				ovary(1)	1						c.(694-696)TCA>TCG		BCL2-associated athanogene 4							127.0	86.0	100.0					8																	38066593		2203	4300	6503	SO:0001819	synonymous_variant	9530				anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity	g.chr8:38066593A>G	AF095194	CCDS6104.1, CCDS56533.1	8p11.23	2008-08-07			ENSG00000156735	ENSG00000156735			940	protein-coding gene	gene with protein product	"""silencer of death domains"""	603884				9873016, 9915703	Standard	NM_004874		Approved	SODD	uc003xky.2	O95429	OTTHUMG00000164064	ENST00000287322.4:c.696A>G	8.37:g.38066593A>G						BAG4_uc003xkz.1_Silent_p.S196S	p.S232S	NM_004874	NP_004865	O95429	BAG4_HUMAN			4	978	+	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	232					B4E217|O95818	Silent	SNP	ENST00000287322.4	37	c.696A>G	CCDS6104.1																																																																																				0.498	BAG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377038.2	NM_004874		6	26	0	0	0	0	6	26				
YTHDF3	253943	broad.mit.edu	37	8	64099527	64099527	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr8:64099527C>T	ENST00000539294.1	+	4	1271	c.955C>T	c.(955-957)Caa>Taa	p.Q319*	YTHDF3_ENST00000517371.1_Intron|YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000542911.2_Nonsense_Mutation_p.Q130*	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	320							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)					Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			CCAACTGCCTCAACAGCAGCC	0.547																																						uc003xuy.2		NA																	0					0						c.(958-960)CAA>TAA		YTH domain family, member 3							53.0	64.0	60.0					8																	64099527		2127	4253	6380	SO:0001587	stop_gained	253943							g.chr8:64099527C>T	BC052970	CCDS75747.1, CCDS75748.1, CCDS75749.1	8q12.3	2013-06-07	2004-11-16		ENSG00000185728	ENSG00000185728			26465	protein-coding gene	gene with protein product			"""YTH domain family 3"""			12477932	Standard	NM_152758		Approved	FLJ31657	uc003xuz.4	Q7Z739	OTTHUMG00000164369	ENST00000539294.1:c.955C>T	8.37:g.64099527C>T	ENSP00000473496:p.Gln319*					YTHDF3_uc010lys.2_Nonsense_Mutation_p.Q264*|YTHDF3_uc003xuz.2_Nonsense_Mutation_p.Q264*|YTHDF3_uc003xva.2_Nonsense_Mutation_p.Q264*|YTHDF3_uc011len.1_Nonsense_Mutation_p.Q264*	p.Q320*	NM_152758	NP_689971	Q7Z739	YTHD3_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)		5	1274	+	Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	320					B3KXL4|Q63Z37|Q659A3	Nonsense_Mutation	SNP	ENST00000539294.1	37	c.958C>T																																																																																					0.547	YTHDF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152758		8	24	0	0	0	0	8	24				
CSMD3	114788	broad.mit.edu	37	8	113585856	113585856	+	Silent	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr8:113585856G>A	ENST00000297405.5	-	24	4160	c.3916C>T	c.(3916-3918)Cta>Tta	p.L1306L	CSMD3_ENST00000455883.2_Silent_p.L1202L|CSMD3_ENST00000343508.3_Silent_p.L1266L|CSMD3_ENST00000352409.3_Silent_p.L1306L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1306	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCACCTAGTAGATGAGTCGTT	0.333										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(3916-3918)CTA>TTA		CUB and Sushi multiple domains 3 isoform 1							105.0	105.0	105.0					8																	113585856		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113585856G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3916C>T	8.37:g.113585856G>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.L578L|CSMD3_uc003ynt.2_Silent_p.L1266L|CSMD3_uc011lhx.1_Silent_p.L1202L	p.L1306L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			24	4075	-			1306			Extracellular (Potential).|CUB 7.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.3916C>T	CCDS6315.1																																																																																				0.333	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		22	43	0	0	0	0	22	43				
COL14A1	7373	broad.mit.edu	37	8	121282288	121282288	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr8:121282288A>G	ENST00000297848.3	+	26	3358	c.3088A>G	c.(3088-3090)Aag>Gag	p.K1030E	COL14A1_ENST00000247781.3_Missense_Mutation_p.K935E|COL14A1_ENST00000309791.4_Missense_Mutation_p.K1030E|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TAAGGCGGCCAAGGCTGACCT	0.403																																						uc003yox.2		NA																	0				ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(3088-3090)AAG>GAG		collagen, type XIV, alpha 1 precursor							136.0	123.0	127.0					8																	121282288		2203	4299	6502	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121282288A>G		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.3088A>G	8.37:g.121282288A>G	ENSP00000297848:p.Lys1030Glu					COL14A1_uc003yoz.2_5'UTR	p.K1030E	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		26	3353	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		1030						Missense_Mutation	SNP	ENST00000297848.3	37	c.3088A>G	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	A	18.49	3.634672	0.67130	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	T;T;T	0.78246	-1.16;-1.16;-1.16	5.08	5.08	0.68730	von Willebrand factor, type A (1);	0.047154	0.85682	D	0.000000	D	0.83917	0.5358	M	0.65498	2.005	0.80722	D	1	D	0.67145	0.996	P	0.58266	0.836	D	0.83883	0.0280	10	0.39692	T	0.17	.	15.0186	0.71609	1.0:0.0:0.0:0.0	.	1030	Q05707	COEA1_HUMAN	E	1030;1030;935	ENSP00000311809:K1030E;ENSP00000297848:K1030E;ENSP00000247781:K935E	ENSP00000247781:K935E	K	+	1	0	COL14A1	121351469	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	7.070000	0.76763	2.139000	0.66308	0.379000	0.24179	AAG		0.403	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		5	55	0	0	0	0	5	55				
TRMT12	55039	broad.mit.edu	37	8	125463521	125463521	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr8:125463521G>T	ENST00000328599.3	+	1	474	c.353G>T	c.(352-354)cGg>cTg	p.R118L	TRMT12_ENST00000521443.1_Intron	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	118					tRNA processing (GO:0008033)		transferase activity (GO:0016740)			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GTGGAGGGTCGGGGAGTCAAG	0.557																																						uc003yra.3		NA																	0				upper_aerodigestive_tract(1)	1						c.(352-354)CGG>CTG		homolog of yeast tRNA methyltransferase 12							60.0	59.0	60.0					8																	125463521		2203	4300	6503	SO:0001583	missense	55039				tRNA processing		methyltransferase activity	g.chr8:125463521G>T	AF313041	CCDS6349.1	8q24.13	2011-05-09	2006-11-16		ENSG00000183665	ENSG00000183665			26091	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 2"""	611244	"""tRNA methyltranferase 12 homolog (S. cerevisiae)"""			16005430, 17150819	Standard	NM_017956		Approved	FLJ20772, Trm12, TYW2	uc003yra.4	Q53H54	OTTHUMG00000165022	ENST00000328599.3:c.353G>T	8.37:g.125463521G>T	ENSP00000329858:p.Arg118Leu						p.R118L	NM_017956	NP_060426	Q53H54	TYW2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		1	474	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		118					Q6PKB9|Q96F21|Q9NWK6	Missense_Mutation	SNP	ENST00000328599.3	37	c.353G>T	CCDS6349.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.924258	0.34002	.	.	ENSG00000183665	ENST00000328599	T	0.47869	0.83	4.54	2.74	0.32292	.	0.629156	0.16760	N	0.200641	T	0.39989	0.1099	M	0.62723	1.935	0.30752	N	0.745022	B	0.20988	0.05	B	0.12156	0.007	T	0.35724	-0.9777	10	0.25751	T	0.34	-8.0225	6.9835	0.24715	0.2948:0.0:0.7052:0.0	.	118	Q53H54	TYW2_HUMAN	L	118	ENSP00000329858:R118L	ENSP00000329858:R118L	R	+	2	0	TRMT12	125532702	0.036000	0.19791	0.767000	0.31495	0.936000	0.57629	0.129000	0.15830	0.612000	0.30071	-0.266000	0.10368	CGG		0.557	TRMT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381465.1	NM_017956		5	94	1	0	0.00116845	0.00203045	5	94				
KHDRBS3	10656	broad.mit.edu	37	8	136594129	136594129	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr8:136594129G>A	ENST00000355849.5	+	6	1030	c.620G>A	c.(619-621)gGa>gAa	p.G207E	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	207					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			AGGGGAAGGGGAGGAGTTACA	0.483																																						uc003yuv.2		NA																	0				ovary(2)	2						c.(619-621)GGA>GAA		KH domain containing, RNA binding, signal							90.0	91.0	91.0					8																	136594129		2203	4300	6503	SO:0001583	missense	10656				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr8:136594129G>A	AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.620G>A	8.37:g.136594129G>A	ENSP00000348108:p.Gly207Glu					KHDRBS3_uc003yuw.2_Missense_Mutation_p.G207E|KHDRBS3_uc010mek.2_RNA	p.G207E	NM_006558	NP_006549	O75525	KHDR3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.247)		6	1014	+	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		207					Q6NUL8|Q9UPA8	Missense_Mutation	SNP	ENST00000355849.5	37	c.620G>A	CCDS6374.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.075582|4.075582	0.76415|0.76415	.|.	.|.	ENSG00000131773|ENSG00000131773	ENST00000524282|ENST00000355849;ENST00000524199	.|T	.|0.49720	.|0.77	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	.|0.106791	.|0.64402	.|D	.|0.000004	T|T	0.69557|0.69557	0.3124|0.3124	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.961;0.999	.|P;D	.|0.67382	.|0.483;0.951	T|T	0.65429|0.65429	-0.6170|-0.6170	5|10	.|0.33940	.|T	.|0.23	-28.2082|-28.2082	19.4247|19.4247	0.94737|0.94737	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|207;207	.|O75525-2;O75525	.|.;KHDR3_HUMAN	K|E	122|207;179	.|ENSP00000348108:G207E	.|ENSP00000348108:G207E	E|G	+|+	1|2	0|0	KHDRBS3|KHDRBS3	136663311|136663311	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	5.043000|5.043000	0.64208|0.64208	2.843000|2.843000	0.97960|0.97960	0.585000|0.585000	0.79938|0.79938	GAG|GGA		0.483	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377529.1			25	72	0	0	0	0	25	72				
MPDZ	8777	broad.mit.edu	37	9	13216781	13216781	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr9:13216781T>C	ENST00000319217.7	-	10	1529	c.1282A>G	c.(1282-1284)Att>Gtt	p.I428V	MPDZ_ENST00000541718.1_Missense_Mutation_p.I428V|MPDZ_ENST00000536827.1_Missense_Mutation_p.I428V|MPDZ_ENST00000381015.4_Missense_Mutation_p.I428V|MPDZ_ENST00000447879.1_Missense_Mutation_p.I428V|MPDZ_ENST00000381022.2_Missense_Mutation_p.I428V|MPDZ_ENST00000546205.1_Missense_Mutation_p.I428V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	428	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ACTGCTATAATTTGGTCTCCA	0.323																																						uc010mia.1		NA																	0				ovary(5)|central_nervous_system(1)	6						c.(1282-1284)ATT>GTT		multiple PDZ domain protein							150.0	137.0	141.0					9																	13216781		1832	4080	5912	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13216781T>C	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.1282A>G	9.37:g.13216781T>C	ENSP00000320006:p.Ile428Val					MPDZ_uc010mhy.2_Missense_Mutation_p.I428V|MPDZ_uc010mhz.2_Missense_Mutation_p.I428V|MPDZ_uc011lmn.1_Missense_Mutation_p.I428V|MPDZ_uc003zlb.3_Missense_Mutation_p.I428V	p.I428V	NM_003829	NP_003820	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	9	1339	-			428			PDZ 3.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.1282A>G		.	.	.	.	.	.	.	.	.	.	T	23.6	4.431418	0.83776	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38;0.38	5.88	5.88	0.94601	.	0.000000	0.43110	D	0.000616	T	0.72898	0.3518	M	0.75150	2.29	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.997	D;D;D	0.83275	0.996;0.994;0.994	T	0.74890	-0.3510	10	0.54805	T	0.06	.	16.3009	0.82811	0.0:0.0:0.0:1.0	.	428;428;428	B7ZMI4;O75970-3;O75970-2	.;.;.	V	428	ENSP00000320006:I428V;ENSP00000439807:I428V;ENSP00000370410:I428V;ENSP00000444151:I428V;ENSP00000415208:I428V;ENSP00000370403:I428V;ENSP00000446358:I428V	ENSP00000320006:I428V	I	-	1	0	MPDZ	13206781	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.767000	0.68850	2.246000	0.74042	0.533000	0.62120	ATT		0.323	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		10	12	0	0	0	0	10	12				
CDKN2A	1029	broad.mit.edu	37	9	21971028	21971028	+	Nonsense_Mutation	SNP	C	C	T	rs121913389		TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr9:21971028C>T	ENST00000304494.5	-	2	600	c.330G>A	c.(328-330)tgG>tgA	p.W110*	CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G125R|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G166R|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G125R|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	110					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.W110*(33)|p.H83fs*2(2)|p.G166R(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110C(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGACGGCCCCAGGCATCGC	0.736		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1401	Whole gene deletion(1316)|Unknown(44)|Substitution - Nonsense(33)|Deletion - Frameshift(5)|Substitution - Missense(3)	p.0?(1112)|p.W110*(38)|p.?(13)|p.H83fs*2(2)|p.W110fs*9(1)|p.D105fs*8(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110fs*36(1)|p.W110C(1)	haematopoietic_and_lymphoid_tissue(285)|skin(182)|central_nervous_system(168)|lung(150)|urinary_tract(92)|bone(74)|upper_aerodigestive_tract(64)|soft_tissue(57)|oesophagus(53)|pleura(51)|ovary(36)|pancreas(33)|kidney(32)|breast(32)|thyroid(13)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM060208	CDKN2A	M	rs121913389	c.(328-330)TGG>TGA		cyclin-dependent kinase inhibitor 2A isoform 1							18.0	21.0	20.0					9																	21971028		2198	4295	6493	SO:0001587	stop_gained	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971028C>T	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.330G>A	9.37:g.21971028C>T	ENSP00000307101:p.Trp110*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.G166R	p.W110*	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	542	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	110			ANK 4.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.330G>A	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.852087|6.852087	0.97885|0.97885	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.87412|.	-2.25;-2.15|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	0.000000|.	0.38217|.	N|.	0.001771|.	T|.	0.37839|.	0.1018|.	L|L	0.32530|0.32530	0.975|0.975	0.30154|0.30154	N|N	0.80279|0.80279	D|.	0.58620|.	0.983|.	P|.	0.60117|.	0.869|.	T|.	0.38887|.	-0.9640|.	10|.	0.87932|0.42905	D|T	0|0.14	-14.7138|-14.7138	8.0617|8.0617	0.30638|0.30638	0.1597:0.7616:0.0:0.0788|0.1597:0.7616:0.0:0.0788	.|.	166|.	Q8N726|.	CD2A2_HUMAN|.	R|X	166;125|110	ENSP00000355153:G166R;ENSP00000432664:G125R|.	ENSP00000355153:G166R|ENSP00000307101:W110X	G|W	-|-	1|3	0|0	CDKN2A|CDKN2A	21961028|21961028	0.088000|0.088000	0.21588|0.21588	1.000000|1.000000	0.80357|0.80357	0.935000|0.935000	0.57460|0.57460	0.422000|0.422000	0.21296|0.21296	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	GGG|TGG		0.736	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		11	15	0	0	0	0	11	15				
UBAP2	55833	broad.mit.edu	37	9	33927875	33927875	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr9:33927875G>A	ENST00000379238.1	-	20	2408	c.2291C>T	c.(2290-2292)aCc>aTc	p.T764I	UBAP2_ENST00000379235.1_Missense_Mutation_p.T3I|UBAP2_ENST00000379239.4_Missense_Mutation_p.T497I|UBAP2_ENST00000418786.2_3'UTR|UBAP2_ENST00000539807.1_Missense_Mutation_p.T519I|UBAP2_ENST00000449054.1_Missense_Mutation_p.T764I|UBAP2_ENST00000360802.1_Missense_Mutation_p.T764I					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		GCTGTTCGCGGTGTTCATGCT	0.637																																						uc003ztq.1		NA																	0				ovary(3)	3						c.(2290-2292)ACC>ATC		ubiquitin associated protein 2							89.0	86.0	87.0					9																	33927875		2203	4300	6503	SO:0001583	missense	55833							g.chr9:33927875G>A	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.2291C>T	9.37:g.33927875G>A	ENSP00000368540:p.Thr764Ile					UBAP2_uc011loc.1_Missense_Mutation_p.T673I|UBAP2_uc011lod.1_Missense_Mutation_p.T497I|UBAP2_uc011loe.1_Missense_Mutation_p.T519I|UBAP2_uc011lof.1_Missense_Mutation_p.T689I|UBAP2_uc011log.1_3'UTR|UBAP2_uc003ztn.1_Missense_Mutation_p.T3I|UBAP2_uc003zto.1_Missense_Mutation_p.T3I|UBAP2_uc003ztp.1_Missense_Mutation_p.T3I	p.T764I	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	20	2404	-			764						Missense_Mutation	SNP	ENST00000379238.1	37	c.2291C>T	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.345590	0.24426	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379235;ENST00000379239;ENST00000539807;ENST00000351580	T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52	5.77	3.93	0.45458	.	0.473365	0.24398	N	0.038875	T	0.28499	0.0705	L	0.60455	1.87	0.54753	D	0.99998	B;B;B;B;B	0.18610	0.029;0.012;0.012;0.002;0.003	B;B;B;B;B	0.12156	0.007;0.007;0.007;0.004;0.002	T	0.08554	-1.0716	10	0.66056	D	0.02	-1.8414	7.5713	0.27909	0.1456:0.1361:0.7183:0.0	.	689;519;497;673;764	F5H4D5;F5H2U4;A6NCA8;F5H2C8;Q5T6F2	.;.;.;.;UBAP2_HUMAN	I	764;764;764;673;3;497;519;200	ENSP00000368540:T764I;ENSP00000416932:T764I;ENSP00000354039:T764I;ENSP00000368537:T3I;ENSP00000368541:T497I;ENSP00000439329:T519I	ENSP00000259602:T200I	T	-	2	0	UBAP2	33917875	0.747000	0.28283	0.191000	0.23289	0.057000	0.15508	1.808000	0.38912	0.782000	0.33613	0.655000	0.94253	ACC		0.637	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		30	44	0	0	0	0	30	44				
KIF24	347240	broad.mit.edu	37	9	34310897	34310897	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr9:34310897T>C	ENST00000402558.2	-	1	472	c.448A>G	c.(448-450)Aaa>Gaa	p.K150E	KIF24_ENST00000345050.2_Missense_Mutation_p.K150E|KIF24_ENST00000379174.3_Missense_Mutation_p.K150E|KIF24_ENST00000379166.2_Missense_Mutation_p.K150E			Q5T7B8	KIF24_HUMAN	kinesin family member 24	150					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)			ATTCCTGTTTTTGTATGGTAC	0.403																																						uc003zua.3		NA																	0				central_nervous_system(1)	1						c.(448-450)AAA>GAA		kinesin family member 24							208.0	202.0	204.0					9																	34310897		1894	4127	6021	SO:0001583	missense	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34310897T>C	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.448A>G	9.37:g.34310897T>C	ENSP00000384433:p.Lys150Glu					KIF24_uc010mkb.2_Missense_Mutation_p.K181E	p.K150E	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		2	568	-			150					Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	ENST00000402558.2	37	c.448A>G	CCDS6551.2	.	.	.	.	.	.	.	.	.	.	T	10.68	1.418359	0.25552	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	T;T;T;T	0.72615	-0.49;-0.67;-0.49;-0.67	5.48	0.342	0.15996	.	0.323214	0.22701	N	0.056694	T	0.53351	0.1791	L	0.31926	0.97	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.09377	0.004;0.002	T	0.45906	-0.9229	10	0.59425	D	0.04	.	5.8912	0.18915	0.0:0.2162:0.1279:0.6559	.	150;150	Q5T7B8-4;Q5T7B8	.;KIF24_HUMAN	E	150	ENSP00000384433:K150E;ENSP00000368472:K150E;ENSP00000368464:K150E;ENSP00000340179:K150E	ENSP00000340179:K150E	K	-	1	0	KIF24	34300897	0.478000	0.25917	0.028000	0.17463	0.354000	0.29330	0.821000	0.27338	0.068000	0.16574	0.528000	0.53228	AAA		0.403	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			28	124	0	0	0	0	28	124				
S1PR3	1903	broad.mit.edu	37	9	91617076	91617076	+	Missense_Mutation	SNP	C	C	T	rs199816019		TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr9:91617076C>T	ENST00000375846.3	+	1	5656	c.961C>T	c.(961-963)Cgg>Tgg	p.R321W	S1PR3_ENST00000358157.2_Missense_Mutation_p.R321W			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	321					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|anatomical structure morphogenesis (GO:0009653)|cytokine production (GO:0001816)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of establishment of endothelial barrier (GO:1903141)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of interleukin-1 beta production (GO:0032651)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						GGTCAGGGGACGGGGGGCCCG	0.612													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16538	0.0		0.0	False		,,,				2504	0.0					uc004aqe.2		NA																	0				ovary(2)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(961-963)CGG>TGG		sphingosine-1-phosphate receptor 3							43.0	45.0	44.0					9																	91617076		2203	4300	6503	SO:0001583	missense	1903				anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr9:91617076C>T	AF022139	CCDS6680.1	9q22.1-q22.2	2012-08-08	2008-04-30	2008-04-30	ENSG00000213694	ENSG00000213694		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3167	protein-coding gene	gene with protein product	"""sphingosine-1-phosphate receptor 3"""	601965	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 3"""	EDG3		8878560, 9409733	Standard	NM_005226		Approved	EDG-3	uc004aqe.4	Q99500	OTTHUMG00000020173	ENST00000375846.3:c.961C>T	9.37:g.91617076C>T	ENSP00000365006:p.Arg321Trp						p.R321W	NM_005226	NP_005217	Q99500	S1PR3_HUMAN			2	1357	+			321			Cytoplasmic (By similarity).		Q5SQD8|Q7Z5I2	Missense_Mutation	SNP	ENST00000375846.3	37	c.961C>T	CCDS6680.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	9.780	1.175006	0.21704	.	.	ENSG00000213694	ENST00000358157;ENST00000375846	T;T	0.38722	1.12;1.12	5.15	-2.26	0.06867	.	2.368260	0.01993	N	0.045671	T	0.39517	0.1081	L	0.42245	1.32	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.48490	-0.9031	10	0.66056	D	0.02	.	12.6482	0.56746	0.7991:0.1263:0.0:0.0746	.	321	Q99500	S1PR3_HUMAN	W	321	ENSP00000350878:R321W;ENSP00000365006:R321W	ENSP00000350878:R321W	R	+	1	2	S1PR3	90806896	0.001000	0.12720	0.055000	0.19348	0.503000	0.33858	0.073000	0.14640	-0.383000	0.07858	0.313000	0.20887	CGG		0.612	S1PR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052979.2	NM_005226		19	29	0	0	0	0	19	29				
AKAP2	11217	broad.mit.edu	37	9	112900082	112900082	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr9:112900082C>G	ENST00000259318.7	+	2	1772	c.1565C>G	c.(1564-1566)tCt>tGt	p.S522C	AKAP2_ENST00000374525.1_Missense_Mutation_p.S611C|AKAP2_ENST00000555236.1_Missense_Mutation_p.S753C|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.S753C|AKAP2_ENST00000434623.2_Missense_Mutation_p.S611C|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.S753C|AKAP2_ENST00000510514.5_Missense_Mutation_p.S753C	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	522										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						GCTGATTTTTCTCTGCCCCAG	0.507																																						uc004bei.2		NA																	0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(2953-2955)TCT>TGT		A kinase (PRKA) anchor protein 2 isoform 2							90.0	84.0	86.0					9																	112900082		2203	4300	6503	SO:0001583	missense	445815						enzyme binding	g.chr9:112900082C>G	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1565C>G	9.37:g.112900082C>G	ENSP00000259318:p.Ser522Cys					PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.S753C|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.S753C|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.S563C|AKAP2_uc011lwi.1_Missense_Mutation_p.S611C|AKAP2_uc004bem.2_Missense_Mutation_p.S611C|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.S571C|AKAP2_uc011lwj.1_Missense_Mutation_p.S522C|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.S522C	p.S985C	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN			9	3146	+			522					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.2954C>G	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603121	0.66445	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.59772	1.58;1.59;1.58;1.59;0.82;0.25;0.24;0.89	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.69405	0.3107	L	0.32530	0.975	0.58432	D	0.99999	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D	0.91635	0.996;0.999;0.993;0.999;0.997;0.999;0.999;0.993	T	0.70781	-0.4779	10	0.87932	D	0	-18.9882	19.3963	0.94608	0.0:1.0:0.0:0.0	.	522;611;605;611;612;753;753;571	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	C	753;753;753;753;611;611;571;522	ENSP00000363654:S753C;ENSP00000305861:S753C;ENSP00000451476:S753C;ENSP00000421522:S753C;ENSP00000404782:S611C;ENSP00000363649:S611C;ENSP00000419268:S571C;ENSP00000259318:S522C	ENSP00000259318:S522C	S	+	2	0	PALM2-AKAP2;AKAP2	111939903	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.241000	0.78201	2.814000	0.96858	0.655000	0.94253	TCT		0.507	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		6	101	0	0	0	0	6	101				
ZNF618	114991	broad.mit.edu	37	9	116810994	116810994	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr9:116810994A>G	ENST00000374126.5	+	15	1511	c.1412A>G	c.(1411-1413)gAg>gGg	p.E471G	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000288466.7_Missense_Mutation_p.E378G			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	471					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)|endometrium(4)|lung(10)|urinary_tract(1)	16						AACATCGCAGAGCGGCTGTTG	0.557																																						uc004bid.2		NA																	0					0						c.(1411-1413)GAG>GGG		zinc finger protein 618							90.0	94.0	92.0					9																	116810994		2028	4180	6208	SO:0001583	missense	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116810994A>G	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.1412A>G	9.37:g.116810994A>G	ENSP00000363241:p.Glu471Gly					ZNF618_uc004bic.2_Missense_Mutation_p.E378G|ZNF618_uc011lxi.1_Missense_Mutation_p.E438G|ZNF618_uc011lxj.1_Missense_Mutation_p.E439G|ZNF618_uc010mvb.2_Missense_Mutation_p.E61G	p.E471G	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN			15	1511	+			471					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	ENST00000374126.5	37	c.1412A>G		.	.	.	.	.	.	.	.	.	.	A	18.66	3.670854	0.67814	.	.	ENSG00000157657	ENST00000374126;ENST00000288466	T	0.03801	3.8	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.20740	0.0499	.	.	.	0.80722	D	1	D;D;D	0.89917	0.993;0.999;1.0	D;D;D	0.81914	0.968;0.994;0.995	T	0.00350	-1.1797	9	0.66056	D	0.02	-28.2441	14.1765	0.65544	1.0:0.0:0.0:0.0	.	438;471;378	B9EG82;Q5T7W0;Q5T7W0-2	.;ZN618_HUMAN;.	G	471;378	ENSP00000288466:E378G	ENSP00000288466:E378G	E	+	2	0	ZNF618	115850815	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	8.690000	0.91272	1.946000	0.56461	0.459000	0.35465	GAG		0.557	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		25	63	0	0	0	0	25	63				
ASTN2	23245	broad.mit.edu	37	9	119495733	119495733	+	Silent	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr9:119495733C>T	ENST00000313400.4	-	14	2566	c.2466G>A	c.(2464-2466)gaG>gaA	p.E822E	ASTN2_ENST00000361209.2_Silent_p.E771E|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Silent_p.E818E			O75129	ASTN2_HUMAN	astrotactin 2	822					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						GGCACTGCTCCTCCACCGGCA	0.602																																						uc004bjs.1		NA																	0				skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(2464-2466)GAG>GAA		astrotactin 2 isoform c							76.0	82.0	80.0					9																	119495733		2203	4300	6503	SO:0001819	synonymous_variant	23245					integral to membrane		g.chr9:119495733C>T	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.2466G>A	9.37:g.119495733C>T						ASTN2_uc004bjr.1_Silent_p.E818E|ASTN2_uc004bjt.1_Silent_p.E771E	p.E822E	NM_198187	NP_937830	O75129	ASTN2_HUMAN			14	2567	-			822			Extracellular (Potential).		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37	c.2466G>A																																																																																					0.602	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		33	84	0	0	0	0	33	84				
CRB2	286204	broad.mit.edu	37	9	126132410	126132410	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr9:126132410G>A	ENST00000373631.3	+	7	1079	c.1078G>A	c.(1078-1080)Gat>Aat	p.D360N	CRB2_ENST00000373629.2_Missense_Mutation_p.D28N|CRB2_ENST00000359999.3_Missense_Mutation_p.D360N	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	360	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GGAAGATGTGGATGAATGCCT	0.572																																						uc004bnx.1		NA																	0				ovary(1)	1						c.(1078-1080)GAT>AAT		crumbs homolog 2 precursor							80.0	84.0	83.0					9																	126132410		2203	4300	6503	SO:0001583	missense	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126132410G>A	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.1078G>A	9.37:g.126132410G>A	ENSP00000362734:p.Asp360Asn					CRB2_uc004bnw.1_Missense_Mutation_p.D360N	p.D360N	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN			7	1170	+			360			Extracellular (Potential).|EGF-like 8; calcium-binding (Potential).		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	c.1078G>A	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	G	7.890	0.732102	0.15507	.	.	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	D;D;D	0.94687	-3.49;-3.49;-2.13	4.87	3.98	0.46160	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.386473	0.18865	N	0.129019	D	0.86973	0.6062	N	0.17800	0.525	0.35980	D	0.835952	B;B	0.29115	0.058;0.233	B;B	0.28139	0.023;0.086	T	0.82625	-0.0365	10	0.13470	T	0.59	.	8.6293	0.33908	0.1954:0.0:0.8046:0.0	.	360;360	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	N	360;360;28	ENSP00000353092:D360N;ENSP00000362734:D360N;ENSP00000362732:D28N	ENSP00000353092:D360N	D	+	1	0	CRB2	125172231	0.982000	0.34865	0.817000	0.32601	0.104000	0.19210	1.210000	0.32370	1.040000	0.40099	0.462000	0.41574	GAT		0.572	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		23	75	0	0	0	0	23	75				
NUP214	8021	broad.mit.edu	37	9	134073597	134073597	+	Silent	SNP	G	G	T	rs373574483		TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr9:134073597G>T	ENST00000359428.5	+	29	4860	c.4716G>T	c.(4714-4716)acG>acT	p.T1572T	NUP214_ENST00000411637.2_Silent_p.T1562T|NUP214_ENST00000451030.1_Silent_p.T1573T|NUP214_ENST00000483497.2_Silent_p.T398T			P35658	NU214_HUMAN	nucleoporin 214kDa	1572	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CAGCCACCACGGGGGTCCCTG	0.577			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	uc004cag.2		NA		Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	DEK|SET|ABL1		AML|T-ALL		0				breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16						c.(4714-4716)ACG>ACT		nucleoporin 214kDa							62.0	66.0	64.0					9																	134073597		2203	4300	6503	SO:0001819	synonymous_variant	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134073597G>T	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.4716G>T	9.37:g.134073597G>T						NUP214_uc004cah.2_Silent_p.T1562T|NUP214_uc004cai.2_Silent_p.T1002T|NUP214_uc010mzg.2_RNA|NUP214_uc011mcg.1_Silent_p.T398T|NUP214_uc011mcf.1_Silent_p.T349T|NUP214_uc010mzh.1_Silent_p.T86T|NUP214_uc010mzi.1_Silent_p.T86T	p.T1572T	NM_005085	NP_005076	P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	29	4827	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1572			Pro/Ser/Thr-rich.|11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Silent	SNP	ENST00000359428.5	37	c.4716G>T	CCDS6940.1																																																																																				0.577	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		6	113	1	0	0.00116845	0.00203045	6	113				
COL5A1	1289	broad.mit.edu	37	9	137593123	137593123	+	Missense_Mutation	SNP	G	G	A	rs142890619		TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr9:137593123G>A	ENST00000371817.3	+	4	1012	c.598G>A	c.(598-600)Gac>Aac	p.D200N	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	200	Laminin G-like.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCCATGATCGACATCAATGG	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		19949	0.0		0.001	False		,,,				2504	0.0					uc004cfe.2		NA																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(598-600)GAC>AAC		alpha 1 type V collagen preproprotein		G	ASN/ASP	0,4406		0,0,2203	160.0	117.0	132.0		598	5.1	0.0	9	dbSNP_134	132	7,8593	5.0+/-18.6	0,7,4293	yes	missense	COL5A1	NM_000093.3	23	0,7,6496	AA,AG,GG		0.0814,0.0,0.0538	probably-damaging	200/1839	137593123	7,12999	2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137593123G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.598G>A	9.37:g.137593123G>A	ENSP00000360882:p.Asp200Asn						p.D200N	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	4	980	+		Myeloproliferative disorder(178;0.0341)	200			TSP N-terminal.|Laminin G-like.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.598G>A	CCDS6982.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.23	3.063522	0.55432	0.0	8.14E-4	ENSG00000130635	ENST00000371817	T	0.76448	-1.02	5.07	5.07	0.68467	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.000000	0.85682	U	0.000000	D	0.86456	0.5937	L	0.57130	1.785	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	D	0.86530	0.1821	10	0.51188	T	0.08	.	18.8039	0.92029	0.0:0.0:1.0:0.0	.	200	P20908	CO5A1_HUMAN	N	200	ENSP00000360882:D200N	ENSP00000360882:D200N	D	+	1	0	COL5A1	136732944	1.000000	0.71417	0.049000	0.19019	0.222000	0.24845	9.489000	0.97949	2.498000	0.84270	0.591000	0.81541	GAC		0.542	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		4	22	0	0	0	0	4	22				
NOTCH1	4851	broad.mit.edu	37	9	139393659	139393659	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr9:139393659G>A	ENST00000277541.6	-	32	6062	c.5987C>T	c.(5986-5988)aCg>aTg	p.T1996M		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1996					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T1997M(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CAGTGGCGTCGTGCCATCATG	0.647			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		1	Substitution - Missense(1)	p.T1997M(1)	lung(1)	haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(5986-5988)ACG>ATG		notch1 preproprotein							60.0	65.0	63.0					9																	139393659		2202	4300	6502	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139393659G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5987C>T	9.37:g.139393659G>A	ENSP00000277541:p.Thr1996Met	HNSCC(8;0.001)					p.T1996M	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	32	5987	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1996			ANK 3.|Cytoplasmic (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.5987C>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.718887	0.68844	.	.	ENSG00000148400	ENST00000277541	T	0.52983	0.64	5.07	5.07	0.68467	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.50377	0.1612	N	0.10664	0.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59204	-0.7498	10	0.45353	T	0.12	.	17.7871	0.88541	0.0:0.0:1.0:0.0	.	1996	P46531	NOTC1_HUMAN	M	1996	ENSP00000277541:T1996M	ENSP00000277541:T1996M	T	-	2	0	NOTCH1	138513480	1.000000	0.71417	0.903000	0.35520	0.195000	0.23768	9.154000	0.94694	2.512000	0.84698	0.561000	0.74099	ACG		0.647	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		6	51	0	0	0	0	6	51				
ARSF	416	broad.mit.edu	37	X	3021856	3021856	+	Nonsense_Mutation	SNP	C	C	T	rs199811641		TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chrX:3021856C>T	ENST00000381127.1	+	9	1377	c.1156C>T	c.(1156-1158)Cga>Tga	p.R386*	ARSF_ENST00000359361.2_Nonsense_Mutation_p.R386*|ARSF_ENST00000537104.1_Nonsense_Mutation_p.R386*	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	386					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGAATTGTCCGATGGCCTGG	0.458													c|||	1	0.000264901	0.0	0.0	3775	,	,		13091	0.0		0.001	False		,,,				2504	0.0					uc004cre.1		NA																	0				ovary(2)	2						c.(1156-1158)CGA>TGA		arylsulfatase F precursor							99.0	89.0	92.0					X																	3021856		2203	4300	6503	SO:0001587	stop_gained	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:3021856C>T	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.1156C>T	X.37:g.3021856C>T	ENSP00000370519:p.Arg386*					ARSF_uc004crf.1_Nonsense_Mutation_p.R386*	p.R386*	NM_004042	NP_004033	P54793	ARSF_HUMAN			9	1377	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	386					Q8TCC5	Nonsense_Mutation	SNP	ENST00000381127.1	37	c.1156C>T	CCDS14123.1	1	6.027727546714888E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	33	5.286101	0.95517	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	.	.	.	3.53	2.5	0.30297	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.2619	0.37616	0.4151:0.5849:0.0:0.0	.	.	.	.	X	386	.	ENSP00000352319:R386X	R	+	1	2	ARSF	3031856	0.841000	0.29509	0.126000	0.21872	0.032000	0.12392	1.509000	0.35780	1.374000	0.46228	0.411000	0.27672	CGA		0.458	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			12	11	0	0	0	0	12	11				
MID1	4281	broad.mit.edu	37	X	10437743	10437743	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chrX:10437743C>T	ENST00000317552.4	-	7	1679	c.1279G>A	c.(1279-1281)Gtc>Atc	p.V427I	MID1_ENST00000380785.1_Missense_Mutation_p.V427I|MID1_ENST00000380780.1_Missense_Mutation_p.V427I|MID1_ENST00000453318.2_Missense_Mutation_p.V427I|MID1_ENST00000380782.2_Missense_Mutation_p.V427I|MID1_ENST00000380779.1_Missense_Mutation_p.V427I|MID1_ENST00000380787.1_Missense_Mutation_p.V427I	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	427	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCACTAACGACGTTGGCTTGT	0.443																																						uc004cte.3		NA																	0				ovary(2)|pancreas(1)	3						c.(1279-1281)GTC>ATC		midline 1							159.0	144.0	149.0					X																	10437743		2203	4300	6503	SO:0001583	missense	4281				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chrX:10437743C>T	Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.1279G>A	X.37:g.10437743C>T	ENSP00000312678:p.Val427Ile					MID1_uc004ctd.3_Missense_Mutation_p.V138I|MID1_uc004ctg.3_Missense_Mutation_p.V427I|MID1_uc004cth.3_Missense_Mutation_p.V389I|MID1_uc004ctk.3_Missense_Mutation_p.V427I|MID1_uc004cti.3_Missense_Mutation_p.V427I|MID1_uc004ctj.3_Missense_Mutation_p.V427I|MID1_uc011mie.1_RNA|MID1_uc004ctm.1_Missense_Mutation_p.V478I|MID1_uc004ctn.1_Missense_Mutation_p.V427I|MID1_uc004cto.1_Missense_Mutation_p.V389I|MID1_uc004csz.3_Missense_Mutation_p.V99I|MID1_uc004cta.3_Missense_Mutation_p.V183I|MID1_uc004ctb.3_Missense_Mutation_p.V87I|MID1_uc004ctc.3_Missense_Mutation_p.V194I|MID1_uc004ctl.1_Missense_Mutation_p.V183I	p.V427I	NM_033290	NP_150632	O15344	TRI18_HUMAN			7	1470	-			427			Fibronectin type-III.		B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	ENST00000317552.4	37	c.1279G>A	CCDS14138.1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.283926	0.23392	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000380782;ENST00000454373;ENST00000413894	T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;1.13;1.15	5.6	4.71	0.59529	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.152045	0.48767	D	0.000166	T	0.33352	0.0860	N	0.19112	0.55	0.50813	D	0.999894	B;B;B	0.14805	0.011;0.011;0.004	B;B;B	0.15870	0.014;0.004;0.009	T	0.06127	-1.0844	10	0.18276	T	0.48	.	15.4983	0.75673	0.0:0.8649:0.1351:0.0	.	427;427;377	A8K5A0;O15344;B4DLX8	.;TRI18_HUMAN;.	I	427;427;427;427;427;427;427;377;427	ENSP00000414521:V427I;ENSP00000312678:V427I;ENSP00000370162:V427I;ENSP00000370156:V427I;ENSP00000370164:V427I;ENSP00000370157:V427I;ENSP00000370159:V427I;ENSP00000391154:V427I	ENSP00000312678:V427I	V	-	1	0	MID1	10397743	1.000000	0.71417	0.436000	0.26797	0.991000	0.79684	4.439000	0.59968	1.099000	0.41499	0.594000	0.82650	GTC		0.443	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1			21	37	0	0	0	0	21	37				
MAGEA1	4100	broad.mit.edu	37	X	152483002	152483002	+	Silent	SNP	A	A	T			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chrX:152483002A>T	ENST00000356661.5	-	3	227	c.9T>A	c.(7-9)ctT>ctA	p.L3L		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	3					negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCTGCTCAAGAGACATGA	0.622																																						uc004fhf.2		NA																	0				central_nervous_system(7)|ovary(1)|lung(1)|breast(1)	10						c.(7-9)CTT>CTA		melanoma antigen family A, 1							48.0	53.0	52.0					X																	152483002		2203	4300	6503	SO:0001819	synonymous_variant	4100					cytoplasm|plasma membrane		g.chrX:152483002A>T		CCDS76051.1	Xq28	2010-05-26			ENSG00000198681	ENSG00000198681			6796	protein-coding gene	gene with protein product	"""melanoma-associated antigen 1"", ""melanoma-associated antigen MZ2-E"", ""melanoma antigen MAGE-1"", ""melanoma antigen family A 1"", ""cancer/testis antigen family 1, member 1"""	300016		MAGE1		1840703	Standard	NM_004988		Approved	MGC9326, CT1.1	uc004fhf.2	P43355	OTTHUMG00000024192	ENST00000356661.5:c.9T>A	X.37:g.152483002A>T							p.L3L	NM_004988	NP_004979	P43355	MAGA1_HUMAN			3	229	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		3					B2RC81|O00346	Silent	SNP	ENST00000356661.5	37	c.9T>A	CCDS14720.1																																																																																				0.622	MAGEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060940.1	NM_004988		36	18	0	0	0	0	36	18				
HTR6	3362	broad.mit.edu	37	1	20005114	20005126	+	Frame_Shift_Del	DEL	ACGAAGCACAGCA	ACGAAGCACAGCA	-	rs199943624|rs143893286	byFrequency	TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr1:20005114_20005126delACGAAGCACAGCA	ENST00000289753.1	+	2	1236_1248	c.769_781delACGAAGCACAGCA	c.(769-783)acgaagcacagcaggfs	p.TKHSR257fs		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	257					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	GCGTCTAGCCACGAAGCACAGCAGGAAGGCCCT	0.615																																					Esophageal Squamous(168;1879 2619 6848 21062)	uc001bcl.2		NA																	0				ovary(1)	1						c.(769-783)ACGAAGCACAGCAGGfs		5-hydroxytryptamine (serotonin) receptor 6	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)																																			SO:0001589	frameshift_variant	3362				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding	g.chr1:20005114_20005126delACGAAGCACAGCA	L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5301	protein-coding gene	gene with protein product		601109	"""5-hydroxytryptamine (serotonin) receptor 6"""			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.769_781delACGAAGCACAGCA	1.37:g.20005114_20005126delACGAAGCACAGCA	ENSP00000289753:p.Thr257fs						p.T257fs	NM_000871	NP_000862	P50406	5HT6R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	2	1236_1248	+		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	257_261			Cytoplasmic (By similarity).		Q13640|Q5TGZ1	Frame_Shift_Del	DEL	ENST00000289753.1	37	c.769_781delACGAAGCACAGCA	CCDS197.1																																																																																				0.615	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1	NM_000871		12	33	NA	NA	NA	NA	12	33	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	17127720	17127720	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr10:17127720delC	ENST00000377833.4	-	16	2051	c.1986delG	c.(1984-1986)gggfs	p.G662fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	662	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGCAGAACTTCCCAAGAAGGG	0.458																																						uc001ioo.2		NA																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(1984-1986)GGGfs		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						75.0	75.0	75.0					10																	17127720		2203	4300	6503	SO:0001589	frameshift_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17127720delC	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.1986delG	10.37:g.17127720delC	ENSP00000367064:p.Gly662fs						p.G662fs	NM_001081	NP_001072	O60494	CUBN_HUMAN			16	2038	-			662			CUB 2.		B0YIZ4|Q5VTA6|Q96RU9	Frame_Shift_Del	DEL	ENST00000377833.4	37	c.1986delG	CCDS7113.1																																																																																				0.458	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		23	46	NA	NA	NA	NA	23	46	---	---	---	---
EGR2	1959	broad.mit.edu	37	10	64573002	64573003	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr10:64573002_64573003delGC	ENST00000242480.3	-	2	1720_1721	c.1395_1396delGC	c.(1393-1398)ccgctcfs	p.L466fs	EGR2_ENST00000493899.2_5'Flank|EGR2_ENST00000439032.1_Frame_Shift_Del_p.L466fs|EGR2_ENST00000411732.1_Frame_Shift_Del_p.L416fs	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	466					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					CAAGGGGCGAGCGGCCCTCCGC	0.653																																						uc010qim.1		NA																	0				ovary(2)	2						c.(1393-1398)CCGCTCfs		early growth response 2 protein isoform a																																				SO:0001589	frameshift_variant	1959				fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr10:64573002_64573003delGC	BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"""Zinc fingers, C2H2-type"""	3239	protein-coding gene	gene with protein product	"""Krox-20 homolog, Drosophila"""	129010	"""early growth response 2 (Krox-20 homolog, Drosophila)"""	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.1395_1396delGC	10.37:g.64573002_64573003delGC	ENSP00000242480:p.Leu466fs					EGR2_uc010qin.1_Frame_Shift_Del_p.P415fs|EGR2_uc001jmi.2_Frame_Shift_Del_p.P465fs|EGR2_uc010qio.1_Frame_Shift_Del_p.P478fs|EGR2_uc009xph.2_Frame_Shift_Del_p.P465fs	p.P465fs	NM_001136177	NP_001129649	P11161	EGR2_HUMAN			3	1549_1550	-	Prostate(12;0.0297)|all_hematologic(501;0.228)		465_466					B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Frame_Shift_Del	DEL	ENST00000242480.3	37	c.1395_1396delGC	CCDS7267.1																																																																																				0.653	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	NM_000399		7	119	NA	NA	NA	NA	7	119	---	---	---	---
NUMA1	4926	broad.mit.edu	37	11	71727303	71727306	+	Splice_Site	DEL	CCAG	CCAG	-	rs200242038		TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr11:71727303_71727306delCCAG	ENST00000393695.3	-	15	1574_1577	c.1243_1246delCTGG	c.(1243-1248)ctggaa>aa	p.LE415fs	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Splice_Site_p.LE415fs|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TTCAAGGTTTCCAGCTGGTGGTAT	0.51			T	RARA	APL						OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001orl.1		NA		Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						c.(1243-1248)CTGGAAfs		nuclear mitotic apparatus protein 1																																				SO:0001630	splice_region_variant	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71727303_71727306delCCAG	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.1243-1CTGG>-	11.37:g.71727303_71727306delCCAG			OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1132	NUMA1_uc009ysw.1_5'UTR|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Frame_Shift_Del_p.L415fs|NUMA1_uc001orn.2_5'UTR|NUMA1_uc009ysx.1_Frame_Shift_Del_p.L415fs|NUMA1_uc001oro.1_Frame_Shift_Del_p.L415fs	p.L415fs	NM_006185	NP_006176	Q14980	NUMA1_HUMAN			15	1415_1418	-			415_416			Potential.			Frame_Shift_Del	DEL	ENST00000393695.3	37	c.1243_1246delCTGG	CCDS31633.1																																																																																				0.510	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1		Frame_Shift_Del	24	80	NA	NA	NA	NA	24	80	---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62165605	62165612	+	Splice_Site	DEL	CCACCTAT	CCACCTAT	-			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr15:62165605_62165612delCCACCTAT	ENST00000261517.5	-	78	10488_10491	c.10415_10418delATAGGTGG	c.(10414-10419)gatagg>gg	p.DR3472fs	VPS13C_ENST00000558919.1_5'Flank|VPS13C_ENST00000249837.3_Splice_Site_p.DR3429fs|VPS13C_ENST00000395898.3_Splice_Site_p.DR3429fs|VPS13C_ENST00000395896.4_Splice_Site_p.DR3472fs	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCCTGCTGCaccacctatcaaagacaag	0.375																																						uc002agz.2		NA																	0				ovary(2)	2						c.e78-1		vacuolar protein sorting 13C protein isoform 2A																																				SO:0001630	splice_region_variant	54832				protein localization			g.chr15:62165605_62165612delCCACCTAT	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.10415-1ATAGGTGG>-	15.37:g.62165605_62165612delCCACCTAT						VPS13C_uc002aha.2_Splice_Site_p.G3429_splice|VPS13C_uc002ahb.1_Splice_Site_p.G3472_splice|VPS13C_uc002ahc.1_Splice_Site_p.G3429_splice	p.G3472_splice	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			78	10489	-									Splice_Site	DEL	ENST00000261517.5	37	c.10415_splice	CCDS32257.1																																																																																				0.375	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684	Frame_Shift_Del	12	172	NA	NA	NA	NA	12	172	---	---	---	---
NLRC4	58484	broad.mit.edu	37	2	32475056	32475056	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr2:32475056delT	ENST00000404025.2	-	5	2365	c.1877delA	c.(1876-1878)aagfs	p.K626fs	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Frame_Shift_Del_p.K626fs|NLRC4_ENST00000360906.5_Frame_Shift_Del_p.K626fs			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	626					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTCTGCAGCCTTTTCCCATGA	0.458																																						uc002roi.2		NA																	0				ovary(3)|large_intestine(1)|lung(1)|skin(1)	6						c.(1876-1878)AAGfs		caspase recruitment domain protein 12							156.0	171.0	166.0					2																	32475056		2203	4300	6503	SO:0001589	frameshift_variant	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32475056delT	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.1877delA	2.37:g.32475056delT	ENSP00000385090:p.Lys626fs					NLRC4_uc002roj.1_Frame_Shift_Del_p.K626fs|NLRC4_uc010ezt.1_Intron	p.K626fs	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN			4	2123	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		626					A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Frame_Shift_Del	DEL	ENST00000404025.2	37	c.1877delA	CCDS33174.1																																																																																				0.458	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		7	300	NA	NA	NA	NA	7	300	---	---	---	---
DBR1	51163	broad.mit.edu	37	3	137889026	137889034	+	Splice_Site	DEL	CAAAATGAC	CAAAATGAC	-	rs531275095		TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr3:137889026_137889034delCAAAATGAC	ENST00000260803.4	-	4	557_565	c.404_412delGTCATTTTG	c.(403-414)ggtcattttgag>gag	p.GHF135del	DBR1_ENST00000505015.2_5'UTR|DBR1_ENST00000463982.2_5'Flank	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	135					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						GGGGGGCACTCAAAATGACCTTAGATTGA	0.316																																						uc003erv.2		NA																	0					0						c.(403-414)GGTCATTTTGAG>GAG		debranching enzyme homolog 1																																				SO:0001630	splice_region_variant	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137889026_137889034delCAAAATGAC	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.404-1GTCATTTTG>-	3.37:g.137889026_137889034delCAAAATGAC						DBR1_uc003eru.2_In_Frame_Del_p.GHF84del	p.GHF135del	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN			4	540_548	-			135_137					Q96GH0|Q9NXQ6	In_Frame_Del	DEL	ENST00000260803.4	37	c.404_412delGTCATTTTG	CCDS33863.1																																																																																				0.316	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1		In_Frame_Del	9	103	NA	NA	NA	NA	9	103	---	---	---	---
SLC27A6	28965	broad.mit.edu	37	5	128359396	128359397	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr5:128359396_128359397insA	ENST00000262462.4	+	6	2258_2259	c.1248_1249insA	c.(1249-1251)aaafs	p.K417fs	SLC27A6_ENST00000506176.1_Frame_Shift_Ins_p.K417fs|SLC27A6_ENST00000395266.1_Frame_Shift_Ins_p.K417fs			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	417					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GTATTCATGTGAAAAAAGGTAA	0.381																																						uc003kuy.2		NA																	0					0						c.(1246-1251)GTGAAAfs		solute carrier family 27 (fatty acid																																				SO:0001589	frameshift_variant	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128359396_128359397insA	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.1254dupA	5.37:g.128359402_128359402dupA	ENSP00000262462:p.Lys417fs					SLC27A6_uc003kuz.2_Frame_Shift_Ins_p.V416fs	p.V416fs	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	7	1644_1645	+		all_cancers(142;0.0483)|Prostate(80;0.055)	416_417					Q6IAM5|Q7Z6E6|Q86YF6	Frame_Shift_Ins	INS	ENST00000262462.4	37	c.1248_1249insA	CCDS4145.1																																																																																				0.381	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		20	36	NA	NA	NA	NA	20	36	---	---	---	---
SLC16A10	117247	broad.mit.edu	37	6	111498539	111498558	+	Frame_Shift_Del	DEL	ATTGTCACTGCTGGCAGCAG	ATTGTCACTGCTGGCAGCAG	-	rs116051634|rs560119641	byFrequency	TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:111498539_111498558delATTGTCACTGCTGGCAGCAG	ENST00000368851.5	+	3	788_807	c.613_632delATTGTCACTGCTGGCAGCAG	c.(613-633)attgtcactgctggcagcagtfs	p.IVTAGSS205fs	SLC16A10_ENST00000368850.3_5'UTR|SLC16A10_ENST00000465319.1_3'UTR	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	205					amino acid transport (GO:0006865)|aromatic amino acid transport (GO:0015801)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G209G(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	Droxidopa(DB06262)|Glycine(DB00145)|L-Alanine(DB00160)|L-Arginine(DB00125)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Cystine(DB00138)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Histidine(DB00117)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Lysine(DB00123)|L-Methionine(DB00134)|L-Phenylalanine(DB00120)|L-Proline(DB00172)|L-Serine(DB00133)|L-Threonine(DB00156)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|L-Valine(DB00161)|Liothyronine(DB00279)|Liotrix(DB01583)|Pyruvic acid(DB00119)	GGTGAATGGCATTGTCACTGCTGGCAGCAGTGTCTTCACA	0.482																																						uc003pus.2		NA																	1	Substitution - coding silent(1)		prostate(1)		0						c.(613-633)ATTGTCACTGCTGGCAGCAGTfs		solute carrier family 16, member 10																																				SO:0001589	frameshift_variant	117247				aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity	g.chr6:111498539_111498558delATTGTCACTGCTGGCAGCAG	AF116652	CCDS5089.1	6q21-q22	2014-01-28	2013-07-18		ENSG00000112394	ENSG00000112394		"""Solute carriers"""	17027	protein-coding gene	gene with protein product		607550	"""solute carrier family 16 (monocarboxylic acid transporters), member 10"""			11278508, 11827462	Standard	NM_018593		Approved	TAT1, MCT10	uc003pus.3	Q8TF71	OTTHUMG00000015371	ENST00000368851.5:c.613_632delATTGTCACTGCTGGCAGCAG	6.37:g.111498539_111498558delATTGTCACTGCTGGCAGCAG	ENSP00000357844:p.Ile205fs					SLC16A10_uc003pur.3_Frame_Shift_Del_p.I205fs|SLC16A10_uc003put.2_5'UTR	p.I205fs	NM_018593	NP_061063	Q8TF71	MOT10_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	3	788_807	+		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)	205_211			Helical; (Potential).		B3KWY0|Q6ZMG0|Q8WVI5	Frame_Shift_Del	DEL	ENST00000368851.5	37	c.613_632delATTGTCACTGCTGGCAGCAG	CCDS5089.1																																																																																				0.482	SLC16A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041822.2			7	64	NA	NA	NA	NA	7	64	---	---	---	---
ECT2L	345930	broad.mit.edu	37	6	139167765	139167769	+	Frame_Shift_Del	DEL	CTCTC	CTCTC	-			TCGA-CV-7101-01A-11D-2012-08	TCGA-CV-7101-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	511c3fa8-476b-4ee8-8e93-1ab46bc40dbe	d4851311-cced-411f-bd9c-3179c2580e42	g.chr6:139167765_139167769delCTCTC	ENST00000423192.1	+	7	1015_1019	c.854_858delCTCTC	c.(853-858)gctctcfs	p.AL285fs	ECT2L_ENST00000541398.1_Frame_Shift_Del_p.AL216fs|ECT2L_ENST00000367682.2_Frame_Shift_Del_p.AL285fs			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	285							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TCTTCATATGCTCTCCGGCCACACT	0.376			"""N, Splice, Mis"""		ETP ALL																																	uc003qif.1		NA		Rec	yes		6	6q24.1	345930		epithelial cell transforming sequence 2 oncogene-like			L					0					0						c.(853-858)GCTCTCfs		epithelial cell transforming sequence 2																																				SO:0001589	frameshift_variant	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139167765_139167769delCTCTC		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.854_858delCTCTC	6.37:g.139167765_139167769delCTCTC	ENSP00000387388:p.Ala285fs					ECT2L_uc011edq.1_Frame_Shift_Del_p.A216fs	p.A285fs	NM_001077706	NP_001071174	Q008S8	ECT2L_HUMAN			6	957_961	+			285_286					B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Frame_Shift_Del	DEL	ENST00000423192.1	37	c.854_858delCTCTC	CCDS43508.1																																																																																				0.376	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		10	181	NA	NA	NA	NA	10	181	---	---	---	---
