#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
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						uc009vos.1																			0					0						c.e6+1		hypothetical protein LOC55672																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T						NBPF1_uc010oce.1_Intron		NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37	c.-35_splice																																																																																					0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron
MST1L	11223	broad.mit.edu	37	1	17086003	17086003	+	RNA	SNP	G	G	C	rs59375146|rs549820593|rs370644748	byFrequency	TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr1:17086003G>C	ENST00000455405.2	-	0	0							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										CCGCCCCCCCGCCCACCTCAC	0.657													.|||	2	0.000399361	0.0015	0.0	5008	,	,		15761	0.0		0.0	False		,,,				2504	0.0					uc010ock.1																			0					0						c.(892-894)GGC>GGG		SubName: Full=Hepatocyte growth factor-like protein homolog;																																						11223							g.chr1:17086003G>C	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17086003G>C						CROCC_uc009voy.1_Intron|MST1P9_uc001azp.3_5'UTR	p.G298G	NR_002729						7	894	-								B7WPB1|Q13209	Silent	SNP	ENST00000455405.2	37	c.894C>G																																																																																					0.657	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733	
KLF17	128209	broad.mit.edu	37	1	44584644	44584644	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr1:44584644C>T	ENST00000372299.3	+	1	123	c.65C>T	c.(64-66)gCg>gTg	p.A22V	RN7SL479P_ENST00000472003.2_RNA|KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	22					gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					TGGCAGGCGGCGCACCAGGCT	0.697																																						uc001clp.2																			0				ovary(1)|skin(1)	2						c.(64-66)GCG>GTG		zinc finger protein 393							16.0	15.0	15.0					1																	44584644		2190	4297	6487	SO:0001583	missense	128209				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:44584644C>T	BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	18830	protein-coding gene	gene with protein product		609602	"""zinc finger protein 393"""	ZNF393		16460907	Standard	NM_173484		Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.65C>T	1.37:g.44584644C>T	ENSP00000361373:p.Ala22Val					KLF17_uc009vxf.1_Intron	p.A22V	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN			1	123	+	Acute lymphoblastic leukemia(166;0.155)		22					Q86VQ7|Q8N805	Missense_Mutation	SNP	ENST00000372299.3	37	c.65C>T	CCDS508.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.995695	0.35226	.	.	ENSG00000171872	ENST00000372299	T	0.08282	3.11	3.68	-2.92	0.05615	.	.	.	.	.	T	0.02970	0.0088	N	0.19112	0.55	0.09310	N	1	P	0.45240	0.854	B	0.32624	0.149	T	0.33904	-0.9850	9	0.34782	T	0.22	.	0.1474	0.00089	0.3185:0.2518:0.1569:0.2727	.	22	Q5JT82	KLF17_HUMAN	V	22	ENSP00000361373:A22V	ENSP00000361373:A22V	A	+	2	0	KLF17	44357231	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.042000	0.01414	-0.591000	0.05859	0.655000	0.94253	GCG		0.697	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026646.1	NM_173484	
CYP4A11	1579	broad.mit.edu	37	1	47395834	47395834	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr1:47395834G>A	ENST00000310638.4	-	12	1544	c.1513C>T	c.(1513-1515)Cgt>Tgt	p.R505C	CYP4A11_ENST00000371904.4_Missense_Mutation_p.R506C|CYP4A11_ENST00000462347.1_Missense_Mutation_p.R407C	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	505			NGIHLRLRRLPNPCEDKDQL -> MESTCVSGGSLTLVKTR TSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAV PQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS (in CYP4A11V).		arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	CTCCTGAGACGCAGGTGGATT	0.587																																						uc001cqp.3																			0				ovary(2)|skin(2)	4						c.(1513-1515)CGT>TGT		cytochrome P450, family 4, subfamily A,	NADH(DB00157)						91.0	77.0	82.0					1																	47395834		2203	4300	6503	SO:0001583	missense	1579				long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47395834G>A	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.1513C>T	1.37:g.47395834G>A	ENSP00000311095:p.Arg505Cys						p.R505C	NM_000778	NP_000769	Q02928	CP4AB_HUMAN			12	1564	-			505		NGIHLRLRRLPNPCEDKDQL -> MESTCVSGGSLTLVKTR TSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAV PQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS (in CYP4A11V).			Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	c.1513C>T	CCDS543.1	.	.	.	.	.	.	.	.	.	.	G	5.356	0.250906	0.10130	.	.	ENSG00000187048	ENST00000310638;ENST00000371904	T;T	0.70399	-0.48;-0.48	4.71	-1.24	0.09435	.	1.766020	0.02474	N	0.087836	T	0.70124	0.3188	M	0.82056	2.57	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.50162	-0.8860	10	0.54805	T	0.06	.	4.1033	0.10025	0.2876:0.0:0.3736:0.3388	.	505	Q02928	CP4AB_HUMAN	C	505;506	ENSP00000311095:R505C;ENSP00000360971:R506C	ENSP00000311095:R505C	R	-	1	0	CYP4A11	47168421	0.000000	0.05858	0.009000	0.14445	0.126000	0.20510	-1.751000	0.01821	-0.094000	0.12374	-0.150000	0.13652	CGT		0.587	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778	
ELTD1	64123	broad.mit.edu	37	1	79404873	79404873	+	Splice_Site	SNP	T	T	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr1:79404873T>A	ENST00000370742.3	-	4	459	c.396A>T	c.(394-396)aaA>aaT	p.K132N		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	132					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTCTACTTACTTTTGTTAAAG	0.254																																						uc001diq.3																			0				ovary(1)|skin(1)	2						c.(394-396)AAA>AAT		EGF, latrophilin and seven transmembrane domain							36.0	36.0	36.0					1																	79404873		1782	4022	5804	SO:0001630	splice_region_variant	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79404873T>A	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.396+1A>T	1.37:g.79404873T>A							p.K132N	NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	4	552	-			132			Extracellular (Potential).		B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.396A>T	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	T	15.15	2.746861	0.49257	.	.	ENSG00000162618	ENST00000370742	T	0.10668	2.85	6.07	3.55	0.40652	Domain of unknown function DUF3497 (1);	0.478856	0.26193	N	0.025786	T	0.02193	0.0068	N	0.25647	0.755	0.32011	N	0.60212	B	0.22003	0.063	B	0.14578	0.011	T	0.46624	-0.9178	9	.	.	.	.	9.1613	0.37023	0.0:0.1551:0.0:0.8449	.	132	Q9HBW9	ELTD1_HUMAN	N	132	ENSP00000359778:K132N	.	K	-	3	2	ELTD1	79177461	0.896000	0.30565	1.000000	0.80357	0.942000	0.58702	0.463000	0.21972	0.444000	0.26612	-0.386000	0.06593	AAA		0.254	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159	Missense_Mutation
BRDT	676	broad.mit.edu	37	1	92442915	92442915	+	Missense_Mutation	SNP	G	G	A	rs142308966		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr1:92442915G>A	ENST00000362005.3	+	7	1352	c.934G>A	c.(934-936)Gtt>Att	p.V312I	BRDT_ENST00000394530.3_Missense_Mutation_p.V266I|BRDT_ENST00000399546.2_Missense_Mutation_p.V312I|BRDT_ENST00000402388.1_Missense_Mutation_p.V312I|BRDT_ENST00000484781.1_3'UTR|BRDT_ENST00000370389.2_Missense_Mutation_p.V239I	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	312	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)	p.V312I(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		CTACTATGACGTTGTCAAAAA	0.323																																						uc001dok.3																			1	Substitution - Missense(1)		large_intestine(1)	stomach(2)|ovary(1)|lung(1)	4						c.(934-936)GTT>ATT		testis-specific bromodomain protein							68.0	70.0	69.0					1																	92442915		2203	4294	6497	SO:0001583	missense	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92442915G>A	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.934G>A	1.37:g.92442915G>A	ENSP00000354568:p.Val312Ile					BRDT_uc001dol.3_Missense_Mutation_p.V312I|BRDT_uc010osz.1_Missense_Mutation_p.V316I|BRDT_uc009wdf.2_Missense_Mutation_p.V239I|BRDT_uc010ota.1_Missense_Mutation_p.V266I|BRDT_uc010otb.1_Missense_Mutation_p.V266I|BRDT_uc001dom.3_Missense_Mutation_p.V312I	p.V312I	NM_207189	NP_997072	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	6	1283	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	312			Bromo 2.		A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	c.934G>A	CCDS735.1	.	.	.	.	.	.	.	.	.	.	A	2.047	-0.418568	0.04766	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000394530;ENST00000426141;ENST00000402388	T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71	5.88	-0.779	0.10973	Bromodomain (5);Bromodomain, conserved site (1);	0.641330	0.15262	N	0.271734	T	0.02230	0.0069	N	0.02765	-0.5	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.45220	-0.9276	10	0.02654	T	1	-2.2149	13.4445	0.61134	0.4227:0.0:0.5773:0.0	.	266;266;316;312	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	I	312;239;312;312;266;312;312	ENSP00000354568:V312I;ENSP00000359416:V239I;ENSP00000387822:V312I;ENSP00000378038:V266I;ENSP00000404969:V312I;ENSP00000384051:V312I	ENSP00000354568:V312I	V	+	1	0	BRDT	92215503	0.920000	0.31207	0.015000	0.15790	0.920000	0.55202	1.123000	0.31308	-0.349000	0.08274	-0.972000	0.02603	GTT		0.323	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189	
MNDA	4332	broad.mit.edu	37	1	158815528	158815528	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr1:158815528C>A	ENST00000368141.4	+	5	983	c.722C>A	c.(721-723)gCc>gAc	p.A241D		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	241	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					GCTACAGTGGCCAGTAAGACT	0.403																																						uc001fsz.1																			0				ovary(2)|skin(2)	4						c.(721-723)GCC>GAC		myeloid cell nuclear differentiation antigen							93.0	92.0	92.0					1																	158815528		2203	4300	6503	SO:0001583	missense	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158815528C>A	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.722C>A	1.37:g.158815528C>A	ENSP00000357123:p.Ala241Asp						p.A241D	NM_002432	NP_002423	P41218	MNDA_HUMAN			5	922	+	all_hematologic(112;0.0378)		241			HIN-200.			Missense_Mutation	SNP	ENST00000368141.4	37	c.722C>A	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628584	0.46944	.	.	ENSG00000163563	ENST00000368141	T	0.47869	0.83	4.24	-1.09	0.09904	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	0.882419	0.09391	N	0.808566	T	0.50973	0.1647	M	0.80616	2.505	0.21841	N	0.999517	D	0.89917	1.0	D	0.71414	0.973	T	0.42120	-0.9470	10	0.87932	D	0	-0.8462	7.6585	0.28389	0.0:0.5079:0.0:0.4921	.	241	P41218	MNDA_HUMAN	D	241	ENSP00000357123:A241D	ENSP00000357123:A241D	A	+	2	0	MNDA	157082152	0.000000	0.05858	0.035000	0.18076	0.142000	0.21351	-1.591000	0.02100	-0.326000	0.08564	-0.150000	0.13652	GCC		0.403	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432	
TOMM40L	84134	broad.mit.edu	37	1	161197734	161197734	+	Missense_Mutation	SNP	A	A	C	rs146096318|rs79389182		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr1:161197734A>C	ENST00000367988.3	+	6	708	c.439A>C	c.(439-441)Aca>Cca	p.T147P	MIR5187_ENST00000583479.1_RNA|TOMM40L_ENST00000367987.1_Missense_Mutation_p.T147P|TOMM40L_ENST00000545897.1_Missense_Mutation_p.T113P|TOMM40L_ENST00000474486.1_3'UTR|NR1I3_ENST00000479324.1_5'Flank	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like	147					ion transport (GO:0006811)|protein transport (GO:0015031)	mitochondrial outer membrane (GO:0005741)|pore complex (GO:0046930)|protein complex (GO:0043234)	porin activity (GO:0015288)			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGATGACTACACAGCCACTCT	0.522											OREG0013943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001fzd.2																			0				large_intestine(1)	1						c.(439-441)ACA>CCA		translocase of outer mitochondrial membrane 40							59.0	56.0	57.0					1																	161197734		2203	4300	6503	SO:0001583	missense	84134				protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity	g.chr1:161197734A>C		CCDS1227.1, CCDS65700.1	1q23.3	2008-02-05	2007-01-12		ENSG00000158882	ENSG00000158882			25756	protein-coding gene	gene with protein product			"""translocase of outer mitochondrial membrane 40 homolog-like (yeast)"""				Standard	NM_032174		Approved	FLJ12770, TOMM40B	uc001fzd.3	Q969M1	OTTHUMG00000034345	ENST00000367988.3:c.439A>C	1.37:g.161197734A>C	ENSP00000356967:p.Thr147Pro		OREG0013943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1814	TOMM40L_uc010pkk.1_RNA|TOMM40L_uc010pkl.1_Missense_Mutation_p.T113P|TOMM40L_uc009wue.2_Missense_Mutation_p.T29P|TOMM40L_uc009wuf.1_RNA|TOMM40L_uc001fze.2_Missense_Mutation_p.T147P	p.T147P	NM_032174	NP_115550	Q969M1	TM40L_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		6	668	+	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		147					B7Z4U0|D3DVG9	Missense_Mutation	SNP	ENST00000367988.3	37	c.439A>C	CCDS1227.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.049589	0.75846	.	.	ENSG00000158882	ENST00000367988;ENST00000545897;ENST00000542686;ENST00000367987	T;T;T	0.49720	0.77;0.77;0.77	5.91	4.78	0.61160	.	0.099552	0.64402	D	0.000002	T	0.60869	0.2302	M	0.85197	2.74	0.48901	D	0.999728	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.70454	-0.4867	9	0.72032	D	0.01	-22.4296	10.2048	0.43107	0.9222:0.0:0.0778:0.0	.	113;29;147	B7Z4U0;Q9H9G4;Q969M1	.;.;TM40L_HUMAN	P	147;113;94;147	ENSP00000356967:T147P;ENSP00000443233:T113P;ENSP00000356966:T147P	ENSP00000356966:T147P	T	+	1	0	TOMM40L	159464358	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.145000	0.94634	1.063000	0.40649	0.533000	0.62120	ACA		0.522	TOMM40L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083029.1	NM_032174	
ASPM	259266	broad.mit.edu	37	1	197060162	197060162	+	Nonsense_Mutation	SNP	G	G	A	rs587783292		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr1:197060162G>A	ENST00000367409.4	-	23	9710	c.9454C>T	c.(9454-9456)Cga>Tga	p.R3152*	ASPM_ENST00000367408.1_Nonsense_Mutation_p.R817*|ASPM_ENST00000294732.7_Nonsense_Mutation_p.R1567*	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3152					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AATCTTGCTCGAAACCATCTC	0.289																																						uc001gtu.2																			0				ovary(4)|central_nervous_system(2)	6						c.(9454-9456)CGA>TGA		asp (abnormal spindle)-like, microcephaly							68.0	69.0	69.0					1																	197060162		2202	4299	6501	SO:0001587	stop_gained	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197060162G>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.9454C>T	1.37:g.197060162G>A	ENSP00000356379:p.Arg3152*					ASPM_uc001gtv.2_Nonsense_Mutation_p.R1567*|ASPM_uc001gtw.3_Nonsense_Mutation_p.R1000*	p.R3152*	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			23	9711	-			3152					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Nonsense_Mutation	SNP	ENST00000367409.4	37	c.9454C>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	51	17.640436	0.99890	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408;ENST00000367406	.	.	.	4.88	3.94	0.45596	.	0.168402	0.36740	N	0.002439	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6061	0.28103	0.0766:0.0:0.6288:0.2946	.	.	.	.	X	3152;1567;817;1138	.	ENSP00000294732:R1567X	R	-	1	2	ASPM	195326785	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	1.552000	0.36244	1.141000	0.42275	0.313000	0.20887	CGA		0.289	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136	
LHX9	56956	broad.mit.edu	37	1	197890610	197890610	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr1:197890610C>T	ENST00000367387.4	+	3	979	c.554C>T	c.(553-555)gCc>gTc	p.A185V	LHX9_ENST00000337020.2_Missense_Mutation_p.A185V|LHX9_ENST00000561173.1_Missense_Mutation_p.A191V|LHX9_ENST00000367390.3_Missense_Mutation_p.A176V|LHX9_ENST00000367391.1_Missense_Mutation_p.A176V	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	185	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						TACTGCCGCGCCCACTTCGAG	0.607																																						uc001guk.1																			0				ovary(1)	1						c.(553-555)GCC>GTC		LIM homeobox 9 isoform 1							58.0	58.0	58.0					1																	197890610		2203	4300	6503	SO:0001583	missense	56956				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:197890610C>T	AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"""Homeoboxes / LIM class"""	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.554C>T	1.37:g.197890610C>T	ENSP00000356357:p.Ala185Val					LHX9_uc001gui.1_Missense_Mutation_p.A176V|LHX9_uc001guj.1_Missense_Mutation_p.A191V	p.A185V	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN			3	991	+			185			LIM zinc-binding 2.		Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Missense_Mutation	SNP	ENST00000367387.4	37	c.554C>T	CCDS1393.1	.	.	.	.	.	.	.	.	.	.	C	9.664	1.145045	0.21288	.	.	ENSG00000143355	ENST00000367391;ENST00000367390;ENST00000337020;ENST00000367387	D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29	5.65	4.74	0.60224	Zinc finger, LIM-type (4);	0.192810	0.47852	D	0.000205	T	0.78336	0.4267	L	0.27975	0.815	0.38181	D	0.939624	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.10450	0.005;0.003;0.005	T	0.73685	-0.3905	10	0.25106	T	0.35	.	11.0643	0.47966	0.0:0.8595:0.0:0.1405	.	185;176;176	Q9NQ69;Q9NQ69-3;Q9NQ69-2	LHX9_HUMAN;.;.	V	176;176;185;185	ENSP00000356361:A176V;ENSP00000356360:A176V;ENSP00000337969:A185V;ENSP00000356357:A185V	ENSP00000337969:A185V	A	+	2	0	LHX9	196157233	0.999000	0.42202	0.995000	0.50966	0.439000	0.31926	2.683000	0.46943	1.631000	0.50456	0.655000	0.94253	GCC		0.607	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204	
ITGA8	8516	broad.mit.edu	37	10	15649777	15649777	+	Missense_Mutation	SNP	G	G	A	rs538437434		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr10:15649777G>A	ENST00000378076.3	-	17	2016	c.1663C>T	c.(1663-1665)Cgg>Tgg	p.R555W		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	555					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AAGAGCGTCCGTTTAATAGCT	0.433													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17512	0.0		0.0	False		,,,				2504	0.0					uc001ioc.1																			0				ovary(3)|lung(3)	6						c.(1663-1665)CGG>TGG		integrin, alpha 8 precursor							138.0	132.0	134.0					10																	15649777		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15649777G>A	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1663C>T	10.37:g.15649777G>A	ENSP00000367316:p.Arg555Trp					ITGA8_uc010qcb.1_Missense_Mutation_p.R540W	p.R555W	NM_003638	NP_003629	P53708	ITA8_HUMAN			17	1663	-			555			Extracellular (Potential).		B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.1663C>T	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471256	0.43942	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.80123	-1.34	5.84	2.53	0.30540	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	D	0.90366	0.6985	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91866	0.5503	10	0.87932	D	0	.	14.3952	0.67005	0.0:0.0:0.4319:0.5681	.	540;555	F5H818;P53708	.;ITA8_HUMAN	W	555;540	ENSP00000367316:R555W	ENSP00000367316:R555W	R	-	1	2	ITGA8	15689783	1.000000	0.71417	0.250000	0.24296	0.137000	0.21094	1.923000	0.40055	0.707000	0.31934	0.591000	0.81541	CGG		0.433	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638	
PTEN	5728	broad.mit.edu	37	10	89720650	89720650	+	Splice_Site	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr10:89720650G>A	ENST00000371953.3	+	8	2158		c.e8-1		PTEN_ENST00000472832.1_Splice_Site	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.M264fs*8(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		tttttttttAGGACAAAATGT	0.264		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		53	Whole gene deletion(37)|Deletion - Frameshift(11)|Unknown(4)|Deletion - In frame(1)	p.R55fs*1(4)|p.?(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.M264fs*8(2)|p.G165_*404del(1)	prostate(16)|central_nervous_system(11)|skin(6)|lung(4)|ovary(4)|haematopoietic_and_lymphoid_tissue(3)|endometrium(3)|breast(3)|urinary_tract(2)|soft_tissue(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334						c.e9-1		phosphatase and tensin homolog							22.0	23.0	23.0					10																	89720650		2151	4239	6390	SO:0001630	splice_region_variant	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720650G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.802-1G>A	10.37:g.89720650G>A		HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.D268_splice	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	9	1833	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)						B2R904|F2YHV0|O00633|O02679|Q6ICT7	Splice_Site	SNP	ENST00000371953.3	37	c.802_splice	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994774	0.74703	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5632	0.91108	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTEN	89710630	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	9.325000	0.96381	2.399000	0.81585	0.591000	0.81541	.		0.264	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	Intron
TRIM21	6737	broad.mit.edu	37	11	4406616	4406616	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr11:4406616G>A	ENST00000254436.7	-	7	1439	c.1327C>T	c.(1327-1329)Cgg>Tgg	p.R443W	TRIM21_ENST00000543625.1_Missense_Mutation_p.R443W	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	443	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		AAGAAGGGCCGCAGAGGTCCT	0.488																																						uc001lyy.1																			0				ovary(3)|lung(1)	4						c.(1327-1329)CGG>TGG		tripartite motif protein 21							78.0	76.0	77.0					11																	4406616		1952	4148	6100	SO:0001583	missense	6737				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4406616G>A	AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	11312	protein-coding gene	gene with protein product		109092	"""Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)"", ""tripartite motif-containing 21"""	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.1327C>T	11.37:g.4406616G>A	ENSP00000254436:p.Arg443Trp						p.R443W	NM_003141	NP_003132	P19474	RO52_HUMAN		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)	7	1440	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	443			B30.2/SPRY.		Q5XPV5|Q96RF8	Missense_Mutation	SNP	ENST00000254436.7	37	c.1327C>T	CCDS44525.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.574821	0.45902	.	.	ENSG00000132109	ENST00000533692;ENST00000254436;ENST00000543625	T;T	0.69685	-0.42;-0.42	4.32	0.103	0.14526	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.374019	0.19942	N	0.102631	T	0.61135	0.2323	L	0.50919	1.6	0.28742	N	0.901902	D	0.55172	0.97	P	0.49853	0.624	T	0.57046	-0.7878	10	0.49607	T	0.09	.	5.7367	0.18071	0.0939:0.0:0.4104:0.4956	.	443	P19474	RO52_HUMAN	W	73;443;443	ENSP00000254436:R443W;ENSP00000444045:R443W	ENSP00000254436:R443W	R	-	1	2	TRIM21	4363192	0.151000	0.22747	0.642000	0.29436	0.768000	0.43524	1.677000	0.37576	0.036000	0.15547	-0.150000	0.13652	CGG		0.488	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385842.1	NM_003141	
OR52E4	390081	broad.mit.edu	37	11	5906308	5906308	+	Silent	SNP	A	A	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr11:5906308A>T	ENST00000316987.2	+	1	808	c.786A>T	c.(784-786)acA>acT	p.T262T		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTTTATGACACATCGTTTTG	0.423																																						uc010qzs.1																			0				ovary(2)	2						c.(784-786)ACA>ACT		olfactory receptor, family 52, subfamily E,							200.0	184.0	189.0					11																	5906308		2201	4296	6497	SO:0001819	synonymous_variant	390081				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5906308A>T	AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"""GPCR / Class A : Olfactory receptors"""	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.786A>T	11.37:g.5906308A>T						TRIM5_uc001mbq.1_Intron	p.T262T	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	786	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	262			Extracellular (Potential).		Q6IFG0	Silent	SNP	ENST00000316987.2	37	c.786A>T	CCDS31401.1																																																																																				0.423	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165	
BTBD10	84280	broad.mit.edu	37	11	13441120	13441120	+	Silent	SNP	T	T	C	rs533959399	byFrequency	TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr11:13441120T>C	ENST00000278174.5	-	4	716	c.471A>G	c.(469-471)aaA>aaG	p.K157K	BTBD10_ENST00000532261.1_5'UTR|BTBD10_ENST00000528120.1_Silent_p.K109K|BTBD10_ENST00000530907.1_Silent_p.K165K	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	157	Interaction with AKT family members. {ECO:0000250|UniProtKB:Q80X66}.					nucleus (GO:0005634)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		GAGCTCCTTCTTTTGCATTTT	0.418													T|||	6	0.00119808	0.0	0.0	5008	,	,		16690	0.0		0.0	False		,,,				2504	0.0061					uc001mkz.2																			0					0						c.(469-471)AAA>AAG		K+ channel tetramerization protein							233.0	224.0	227.0					11																	13441120		2200	4294	6494	SO:0001819	synonymous_variant	84280					nucleus		g.chr11:13441120T>C	AY221959	CCDS7811.1, CCDS73261.1	11p15.2	2013-01-24			ENSG00000148925	ENSG00000148925		"""BTB/POZ domain containing"""	21445	protein-coding gene	gene with protein product		615933				15556295	Standard	XM_005253164		Approved	GMRP1, GMRP-1, MGC13007	uc001mkz.3	Q9BSF8	OTTHUMG00000165787	ENST00000278174.5:c.471A>G	11.37:g.13441120T>C						BTBD10_uc010rcl.1_Silent_p.K165K|BTBD10_uc001mla.2_Silent_p.K141K|BTBD10_uc009ygn.2_RNA|BTBD10_uc010rcm.1_Silent_p.K109K|BTBD10_uc010rcn.1_Silent_p.K126K|BTBD10_uc009ygo.2_Silent_p.K109K	p.K157K	NM_032320	NP_115696	Q9BSF8	BTBDA_HUMAN		Epithelial(150;0.0214)	4	728	-			157					B7Z228|Q86WG1	Silent	SNP	ENST00000278174.5	37	c.471A>G	CCDS7811.1																																																																																				0.418	BTBD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386200.1	NM_032320	
MMP7	4316	broad.mit.edu	37	11	102398591	102398591	+	Missense_Mutation	SNP	C	C	T	rs145006821		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr11:102398591C>T	ENST00000260227.4	-	2	284	c.232G>A	c.(232-234)Gtc>Atc	p.V78I		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	78					antibacterial peptide secretion (GO:0002779)|collagen catabolic process (GO:0030574)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.V78I(1)		large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	Marimastat(DB00786)	ATTTCTATGACGCGGGAGTTT	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		18024	0.001		0.0	False		,,,				2504	0.0					uc001phb.2																			1	Substitution - Missense(1)		large_intestine(1)	ovary(1)	1						c.(232-234)GTC>ATC		matrix metalloproteinase 7 preproprotein		C	ILE/VAL	0,4406		0,0,2203	94.0	102.0	99.0		232	-8.0	0.0	11	dbSNP_134	99	1,8597	1.2+/-3.3	0,1,4298	no	missense	MMP7	NM_002423.3	29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	78/268	102398591	1,13003	2203	4299	6502	SO:0001583	missense	4316				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:102398591C>T	Z11887	CCDS8317.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000137673	ENSG00000137673	3.4.24.23		7174	protein-coding gene	gene with protein product		178990	"""matrix metalloproteinase 7 (matrilysin, uterine)"""	MPSL1		8978768	Standard	NM_002423		Approved	PUMP-1	uc001phb.3	P09237	OTTHUMG00000048193	ENST00000260227.4:c.232G>A	11.37:g.102398591C>T	ENSP00000260227:p.Val78Ile					MMP7_uc009yxd.2_Missense_Mutation_p.V78I|MMP7_uc010rus.1_Missense_Mutation_p.V78I	p.V78I	NM_002423	NP_002414	P09237	MMP7_HUMAN	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	2	279	-	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	78					Q9BTK9	Missense_Mutation	SNP	ENST00000260227.4	37	c.232G>A	CCDS8317.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	8.355	0.831875	0.16820	0.0	1.16E-4	ENSG00000137673	ENST00000260227	T	0.36340	1.26	5.39	-8.02	0.01118	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	1.131920	0.06679	N	0.767584	T	0.11580	0.0282	N	0.01668	-0.77	0.09310	N	1	B;B;B	0.15141	0.012;0.001;0.001	B;B;B	0.15052	0.012;0.002;0.003	T	0.37197	-0.9716	10	0.39692	T	0.17	-0.1407	7.6475	0.28329	0.0:0.3793:0.2089:0.4119	.	78;78;78	B4DDW4;Q53GF1;P09237	.;.;MMP7_HUMAN	I	78	ENSP00000260227:V78I	ENSP00000260227:V78I	V	-	1	0	MMP7	101903801	0.002000	0.14202	0.000000	0.03702	0.062000	0.15995	0.628000	0.24522	-1.955000	0.01023	-1.384000	0.01168	GTC		0.408	MMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109633.2		
TEAD4	7004	broad.mit.edu	37	12	3121377	3121377	+	Silent	SNP	C	C	T	rs112112805		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr12:3121377C>T	ENST00000359864.2	+	5	523	c.333C>T	c.(331-333)cgC>cgT	p.R111R	TEAD4_ENST00000397122.2_5'UTR|TEAD4_ENST00000358409.2_Silent_p.R111R	NM_003213.3	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4	111					gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			GCAAAGCTCGCGAGATCCAGG	0.597																																						uc010sej.1																			0					0						c.(328-330)CGC>CGT		TEA domain family member 4 isoform 1		C	,,	1,4405	2.1+/-5.4	0,1,2202	74.0	62.0	66.0		333,333,	-10.0	0.5	12	dbSNP_132	66	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,utr-5	TEAD4	NM_003213.3,NM_201441.2,NM_201443.2	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	111/435,111/392,	3121377	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7004				hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:3121377C>T	X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000359864.2:c.333C>T	12.37:g.3121377C>T						TEAD4_uc010sek.1_Silent_p.R110R|TEAD4_uc001qln.2_5'UTR	p.R110R	NM_003213	NP_003204	Q15561	TEAD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)		5	607	+	Ovarian(42;0.211)		111					H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Silent	SNP	ENST00000359864.2	37	c.330C>T	CCDS31729.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.151835	0.38021	2.27E-4	0.0	ENSG00000197905	ENST00000544666	.	.	.	4.98	-9.96	0.00443	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.994	2.5578	0.04764	0.1451:0.0981:0.25:0.5068	.	.	.	.	X	23	.	ENSP00000411475:R90X	R	+	1	2	TEAD4	2991638	0.001000	0.12720	0.461000	0.27105	0.083000	0.17756	-1.960000	0.01517	-2.421000	0.00563	-0.150000	0.13652	CGA		0.597	TEAD4-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398475.1	NM_003213	
PLEKHA5	54477	broad.mit.edu	37	12	19436297	19436297	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr12:19436297C>G	ENST00000299275.6	+	11	1385	c.1379C>G	c.(1378-1380)aCa>aGa	p.T460R	PLEKHA5_ENST00000355397.3_Missense_Mutation_p.T460R|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.T460R|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.T466R|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.T460R|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.T218R|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.T352R|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.T352R|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.T460R|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.T460R	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	460					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GGTTATAGAACACTCCCAAGA	0.438																																					Pancreas(196;329 2193 11246 14234 19524)	uc001reb.2																			0				ovary(1)|kidney(1)|skin(1)	3						c.(1378-1380)ACA>AGA		pleckstrin homology domain containing, family A							63.0	60.0	61.0					12																	19436297		2203	4300	6503	SO:0001583	missense	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19436297C>G	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.1379C>G	12.37:g.19436297C>G	ENSP00000299275:p.Thr460Arg					PLEKHA5_uc010sie.1_Missense_Mutation_p.T466R|PLEKHA5_uc001rea.2_Missense_Mutation_p.T460R|PLEKHA5_uc009zin.2_Missense_Mutation_p.T218R|PLEKHA5_uc010sif.1_Missense_Mutation_p.T352R|PLEKHA5_uc010sig.1_Missense_Mutation_p.T352R|PLEKHA5_uc010sih.1_Missense_Mutation_p.T352R|PLEKHA5_uc001rec.1_Missense_Mutation_p.T148R	p.T460R	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN			11	1465	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		460					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	c.1379C>G	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.097869	0.37048	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000309364;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974	T;T;T;T;T;T;T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48	4.19	4.19	0.49359	.	0.106582	0.64402	D	0.000008	T	0.39517	0.1081	M	0.79475	2.455	0.41696	D	0.989371	D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.992;1.0;0.998;0.999	D;D;D;P;D;D;D	0.85130	0.982;0.982;0.974;0.858;0.997;0.953;0.982	T	0.39057	-0.9632	10	0.54805	T	0.06	-12.1093	17.0912	0.86622	0.0:1.0:0.0:0.0	.	460;352;352;466;466;460;460	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;PKHA5_HUMAN;.	R	460;460;460;467;460;466;460;218;460;352;352;352	ENSP00000325155:T460R;ENSP00000347560:T460R;ENSP00000352104:T460R;ENSP00000311239:T460R;ENSP00000404296:T466R;ENSP00000299275:T460R;ENSP00000440611:T218R;ENSP00000439673:T460R;ENSP00000400411:T352R;ENSP00000439837:T352R;ENSP00000440371:T352R	ENSP00000299275:T460R	T	+	2	0	PLEKHA5	19327564	1.000000	0.71417	0.896000	0.35187	0.295000	0.27426	5.197000	0.65141	2.321000	0.78463	0.655000	0.94253	ACA		0.438	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012	
CYP27B1	1594	broad.mit.edu	37	12	58158677	58158677	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr12:58158677C>T	ENST00000228606.4	-	5	1032	c.823G>A	c.(823-825)Gca>Aca	p.A275T	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	275					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	CTCATGGCTGCCTCTGCCTCT	0.617																																						uc001spz.1																			0				central_nervous_system(3)	3						c.(823-825)GCA>ACA		cytochrome P450, family 27, subfamily B,	Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)						78.0	74.0	76.0					12																	58158677		2203	4300	6503	SO:0001583	missense	1594				bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	g.chr12:58158677C>T	AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"""Cytochrome P450s"""	2606	protein-coding gene	gene with protein product	"""VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"""	609506	"""cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"""	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.823G>A	12.37:g.58158677C>T	ENSP00000228606:p.Ala275Thr					CYP27B1_uc001sqa.1_Missense_Mutation_p.A40T|CYP27B1_uc001sqb.1_Missense_Mutation_p.G155D|CYP27B1_uc001sqc.1_Missense_Mutation_p.G155D	p.A275T	NM_000785	NP_000776	O15528	CP27B_HUMAN	GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		5	975	-	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		275					B2RC61|Q548T3	Missense_Mutation	SNP	ENST00000228606.4	37	c.823G>A	CCDS8954.1	.	.	.	.	.	.	.	.	.	.	C	2.574	-0.299047	0.05532	.	.	ENSG00000111012	ENST00000228606;ENST00000546567	T;T	0.68765	-0.35;-0.35	4.65	1.86	0.25419	.	0.603497	0.16981	N	0.191703	T	0.52581	0.1743	L	0.38175	1.15	0.09310	N	1	B	0.02656	0.0	B	0.13407	0.009	T	0.39781	-0.9597	10	0.34782	T	0.22	.	8.7651	0.34698	0.0:0.7462:0.0:0.2538	.	275	O15528	CP27B_HUMAN	T	275;40	ENSP00000228606:A275T;ENSP00000449472:A40T	ENSP00000228606:A275T	A	-	1	0	CYP27B1	56444944	0.000000	0.05858	0.000000	0.03702	0.274000	0.26718	-0.981000	0.03766	0.219000	0.20840	0.561000	0.74099	GCA		0.617	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785	
ATP8A2	51761	broad.mit.edu	37	13	26343355	26343355	+	Silent	SNP	C	C	T	rs374883147		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr13:26343355C>T	ENST00000381655.2	+	26	2698	c.2556C>T	c.(2554-2556)taC>taT	p.Y852Y	ATP8A2_ENST00000255283.8_Silent_p.Y812Y|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	812					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		ACTCGGATTACGCCATCGCAC	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		20486	0.0		0.001	False		,,,				2504	0.0					uc001uqk.2																			0				ovary(2)|large_intestine(1)|skin(1)	4						c.(2554-2556)TAC>TAT		ATPase, aminophospholipid transporter-like,		C		0,4328		0,0,2164	85.0	90.0	88.0		2556	-1.9	0.8	13		88	1,8511		0,1,4255	no	coding-synonymous	ATP8A2	NM_016529.4		0,1,6419	TT,TC,CC		0.0117,0.0,0.0078		852/1189	26343355	1,12839	2164	4256	6420	SO:0001819	synonymous_variant	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26343355C>T	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2556C>T	13.37:g.26343355C>T						ATP8A2_uc010tdi.1_Silent_p.Y812Y|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Silent_p.Y402Y	p.Y852Y	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	26	2698	+		Breast(139;0.0201)|Lung SC(185;0.0225)	812			Cytoplasmic (Potential).		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Silent	SNP	ENST00000381655.2	37	c.2556C>T	CCDS41873.1																																																																																				0.582	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529	
SRSF5	6430	broad.mit.edu	37	14	70234973	70234973	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr14:70234973G>T	ENST00000553521.1	+	3	1553	c.100G>T	c.(100-102)Gat>Tat	p.D34Y	SRSF5_ENST00000553635.1_Missense_Mutation_p.D34Y|SRSF5_ENST00000394366.2_Missense_Mutation_p.D34Y|SRSF5_ENST00000554021.1_Missense_Mutation_p.D34Y|SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000451983.2_Missense_Mutation_p.D34Y|SRSF5_ENST00000555349.1_Missense_Mutation_p.D34Y|SRSF5_ENST00000553548.1_Missense_Mutation_p.D34Y|SRSF5_ENST00000557154.1_Missense_Mutation_p.D34Y			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5	34	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of cell cycle (GO:0051726)|response to wounding (GO:0009611)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(1)|liver(1)	2						AAGAGATATTGATCTGAAAAG	0.428																																						uc001xll.2																			0					0						c.(100-102)GAT>TAT		splicing factor, arginine/serine-rich 5							208.0	232.0	224.0					14																	70234973		2203	4300	6503	SO:0001583	missense	6430				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr14:70234973G>T	AF020307	CCDS32109.1	14q24	2013-02-12	2010-06-22	2010-06-22	ENSG00000100650	ENSG00000100650		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10787	protein-coding gene	gene with protein product	"""SR splicing factor 5"""	600914	"""splicing factor, arginine/serine-rich 5"""	SFRS5		7686911, 20516191	Standard	XM_005267998		Approved	SRP40, HRS	uc001xlp.3	Q13243		ENST00000553521.1:c.100G>T	14.37:g.70234973G>T	ENSP00000452123:p.Asp34Tyr					SFRS5_uc001xlm.2_RNA|SFRS5_uc001xln.1_Missense_Mutation_p.D34Y|SFRS5_uc001xlo.2_Missense_Mutation_p.D34Y|SFRS5_uc001xlp.2_Missense_Mutation_p.D34Y|SFRS5_uc001xlq.2_Missense_Mutation_p.D34Y	p.D34Y	NM_006925	NP_008856	Q13243	SRSF5_HUMAN		all cancers(60;0.00144)|BRCA - Breast invasive adenocarcinoma(234;0.0132)|OV - Ovarian serous cystadenocarcinoma(108;0.0154)	3	1551	+			34			RRM 1.		O14797|Q16662|Q49AD6|Q6FGE0	Missense_Mutation	SNP	ENST00000553521.1	37	c.100G>T	CCDS32109.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.456870	0.26161	.	.	ENSG00000100650	ENST00000553521;ENST00000394366;ENST00000553548;ENST00000553369;ENST00000557154;ENST00000451983;ENST00000553635;ENST00000555349;ENST00000554021	T;T;T;T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27	5.86	5.86	0.93980	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.043310	0.85682	D	0.000000	T	0.26122	0.0637	L	0.28740	0.885	0.80722	D	1	D;P;D	0.60575	0.961;0.697;0.988	P;P;P	0.62649	0.905;0.511;0.84	T	0.00978	-1.1493	10	0.05351	T	0.99	.	20.1772	0.98182	0.0:0.0:1.0:0.0	.	34;34;34	Q13243-3;Q6FGE0;Q13243	.;.;SRSF5_HUMAN	Y	34	ENSP00000452123:D34Y;ENSP00000377892:D34Y;ENSP00000452400:D34Y;ENSP00000452449:D34Y;ENSP00000451088:D34Y;ENSP00000402734:D34Y;ENSP00000451391:D34Y;ENSP00000452090:D34Y;ENSP00000450918:D34Y	ENSP00000377892:D34Y	D	+	1	0	SRSF5	69304726	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.768000	0.74980	2.778000	0.95560	0.655000	0.94253	GAT		0.428	SRSF5-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412456.1	NM_001039465	
SEMA6D	80031	broad.mit.edu	37	15	48053911	48053911	+	Silent	SNP	A	A	G			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr15:48053911A>G	ENST00000316364.5	+	7	940	c.501A>G	c.(499-501)ccA>ccG	p.P167P	SEMA6D_ENST00000389433.2_Silent_p.P167P|SEMA6D_ENST00000358066.4_Silent_p.P167P|SEMA6D_ENST00000537942.1_Silent_p.P167P|SEMA6D_ENST00000355997.3_Silent_p.P167P|SEMA6D_ENST00000389425.3_Silent_p.P167P|SEMA6D_ENST00000389428.3_Silent_p.P167P|SEMA6D_ENST00000558816.1_Silent_p.P167P|SEMA6D_ENST00000536845.2_Silent_p.P167P|SEMA6D_ENST00000558014.1_Silent_p.P167P|SEMA6D_ENST00000354744.4_Silent_p.P167P|SEMA6D_ENST00000389432.2_Silent_p.P167P	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	167	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CAAGATGCCCATTTGATGCCA	0.373																																						uc010bek.2																			0				skin(3)|breast(1)	4						c.(499-501)CCA>CCG		semaphorin 6D isoform 4 precursor							109.0	115.0	113.0					15																	48053911		2198	4297	6495	SO:0001819	synonymous_variant	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48053911A>G	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.501A>G	15.37:g.48053911A>G						SEMA6D_uc001zvw.2_Silent_p.P167P|SEMA6D_uc001zvx.1_Silent_p.P167P|SEMA6D_uc001zvy.2_Silent_p.P167P|SEMA6D_uc001zvz.2_Silent_p.P167P|SEMA6D_uc001zwa.2_Silent_p.P167P|SEMA6D_uc001zwb.2_Silent_p.P167P|SEMA6D_uc001zwc.2_Silent_p.P167P	p.P167P	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	7	861	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	167			Sema.|Extracellular (Potential).		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Silent	SNP	ENST00000316364.5	37	c.501A>G	CCDS32225.1																																																																																				0.373	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966	
CSNK1G1	53944	broad.mit.edu	37	15	64472574	64472574	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr15:64472574G>A	ENST00000303052.7	-	11	1610	c.1187C>T	c.(1186-1188)gCc>gTc	p.A396V	CSNK1G1_ENST00000607537.1_Missense_Mutation_p.A433V	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	396					Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						CTCCACCTCGGCATGAGCTGT	0.483																																						uc002anf.2																			0					0						c.(1186-1188)GCC>GTC		casein kinase 1, gamma 1							122.0	117.0	118.0					15																	64472574		2031	4176	6207	SO:0001583	missense	53944				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr15:64472574G>A	AB042562	CCDS10192.2	15q22.1-q22.31	2013-01-17			ENSG00000169118	ENSG00000169118			2454	protein-coding gene	gene with protein product		606274				11124537	Standard	NM_022048		Approved	CK1gamma1	uc002anf.3	Q9HCP0	OTTHUMG00000133019	ENST00000303052.7:c.1187C>T	15.37:g.64472574G>A	ENSP00000305777:p.Ala396Val					CSNK1G1_uc002ane.2_RNA|CSNK1G1_uc002ang.1_Missense_Mutation_p.A396V|CSNK1G1_uc002anh.1_Missense_Mutation_p.A433V	p.A396V	NM_022048	NP_071331	Q9HCP0	KC1G1_HUMAN			11	1667	-			396					Q5JPH1|Q96AE9|Q9HCP1	Missense_Mutation	SNP	ENST00000303052.7	37	c.1187C>T	CCDS10192.2	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267692	0.80469	.	.	ENSG00000169118	ENST00000303052;ENST00000447727	T	0.69561	-0.41	5.73	5.73	0.89815	.	0.218776	0.46758	D	0.000263	T	0.67767	0.2928	L	0.60455	1.87	0.80722	D	1	B;B	0.17852	0.005;0.024	B;B	0.23852	0.014;0.049	T	0.62803	-0.6777	10	0.48119	T	0.1	.	19.9133	0.97031	0.0:0.0:1.0:0.0	.	396;396	Q8IXA3;Q9HCP0	.;KC1G1_HUMAN	V	396;352	ENSP00000305777:A396V	ENSP00000305777:A396V	A	-	2	0	CSNK1G1	62259627	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	9.869000	0.99810	2.721000	0.93114	0.655000	0.94253	GCC		0.483	CSNK1G1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256605.1	NM_022048	
ATXN2L	11273	broad.mit.edu	37	16	28842292	28842292	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr16:28842292G>C	ENST00000336783.4	+	10	1387	c.1220G>C	c.(1219-1221)cGc>cCc	p.R407P	ATXN2L_ENST00000382686.4_Missense_Mutation_p.R407P|ATXN2L_ENST00000564304.1_Missense_Mutation_p.R407P|ATXN2L_ENST00000570200.1_Missense_Mutation_p.R407P|ATXN2L_ENST00000340394.8_Missense_Mutation_p.R407P|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000325215.6_Missense_Mutation_p.R407P|ATXN2L_ENST00000395547.2_Missense_Mutation_p.R407P	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	407					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GGCCCTTCCCGCATGTCCCCA	0.493																																						uc002drc.2																			0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1219-1221)CGC>CCC		ataxin 2 related protein isoform A							39.0	39.0	39.0					16																	28842292		2197	4300	6497	SO:0001583	missense	11273					membrane		g.chr16:28842292G>C		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.1220G>C	16.37:g.28842292G>C	ENSP00000338718:p.Arg407Pro					uc010vct.1_Intron|ATXN2L_uc010byl.1_Missense_Mutation_p.R407P|ATXN2L_uc002drb.2_Missense_Mutation_p.R407P|ATXN2L_uc002dqy.2_Missense_Mutation_p.R407P|ATXN2L_uc002dra.2_Missense_Mutation_p.R407P|ATXN2L_uc002dqz.2_Missense_Mutation_p.R407P|ATXN2L_uc010vdb.1_Missense_Mutation_p.R407P|ATXN2L_uc002dre.2_Missense_Mutation_p.R407P|ATXN2L_uc002drf.2_Intron	p.R407P	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN			10	1388	+			407					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	ENST00000336783.4	37	c.1220G>C	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	26.0	4.699015	0.88830	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	T;T;T;T;T	0.51574	0.71;0.71;0.7;0.72;0.72	5.95	5.95	0.96441	.	0.145707	0.48286	D	0.000187	T	0.67144	0.2862	M	0.62723	1.935	0.50313	D	0.999865	D;D;D;D;D;D;D;D	0.76494	0.999;0.999;0.998;0.998;0.999;0.999;0.998;0.999	D;D;D;D;D;D;D;D	0.85130	0.997;0.997;0.992;0.992;0.997;0.997;0.992;0.997	T	0.59931	-0.7361	10	0.30078	T	0.28	-11.8579	19.1503	0.93485	0.0:0.0:1.0:0.0	.	407;407;407;407;407;407;407;407	Q8WWM7-6;Q8WWM7-5;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;.;ATX2L_HUMAN;.;.;.;.	P	407	ENSP00000341459:R407P;ENSP00000378917:R407P;ENSP00000338718:R407P;ENSP00000372133:R407P;ENSP00000315650:R407P	ENSP00000315650:R407P	R	+	2	0	ATXN2L	28749793	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.439000	0.80444	2.826000	0.97356	0.563000	0.77884	CGC		0.493	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245	
ITGAX	3687	broad.mit.edu	37	16	31383748	31383748	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr16:31383748C>T	ENST00000268296.4	+	18	2331	c.2210C>T	c.(2209-2211)aCg>aTg	p.T737M	ITGAX_ENST00000562522.1_Missense_Mutation_p.T737M	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	737					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CTGAACTTCACGCTGGTGGGC	0.642																																						uc002ebu.1																			0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(2209-2211)ACG>ATG		integrin alpha X precursor							89.0	78.0	81.0					16																	31383748		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31383748C>T	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.2210C>T	16.37:g.31383748C>T	ENSP00000268296:p.Thr737Met					ITGAX_uc002ebt.2_Missense_Mutation_p.T737M	p.T737M	NM_000887	NP_000878	P20702	ITAX_HUMAN			18	2277	+			737			Extracellular (Potential).		Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.2210C>T	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336451	0.60963	.	.	ENSG00000140678	ENST00000268296	T	0.48836	0.8	4.69	4.69	0.59074	Integrin alpha-2 (1);	.	.	.	.	T	0.57607	0.2065	L	0.43923	1.385	0.31425	N	0.673801	D	0.89917	1.0	P	0.59546	0.859	T	0.62774	-0.6783	9	0.87932	D	0	.	14.984	0.71332	0.0:1.0:0.0:0.0	.	737	P20702	ITAX_HUMAN	M	737	ENSP00000268296:T737M	ENSP00000268296:T737M	T	+	2	0	ITGAX	31291249	0.898000	0.30612	0.807000	0.32361	0.356000	0.29392	0.972000	0.29409	2.571000	0.86741	0.467000	0.42956	ACG		0.642	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887	
SPAG5	10615	broad.mit.edu	37	17	26919636	26919636	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr17:26919636G>A	ENST00000321765.5	-	3	958	c.626C>T	c.(625-627)cCc>cTc	p.P209L		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	209					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TTCAGAACAGGGATTTGGTGG	0.483																																						uc002hbq.2																			0				central_nervous_system(1)	1						c.(625-627)CCC>CTC		sperm associated antigen 5							112.0	109.0	110.0					17																	26919636		2203	4300	6503	SO:0001583	missense	10615				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26919636G>A	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.626C>T	17.37:g.26919636G>A	ENSP00000323300:p.Pro209Leu					SGK494_uc010waq.1_Intron	p.P209L	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN			3	718	-	Lung NSC(42;0.00431)		209					O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	37	c.626C>T	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	G	2.239	-0.374306	0.05034	.	.	ENSG00000076382	ENST00000321765	T	0.25414	1.8	5.33	0.244	0.15507	.	0.789063	0.11149	N	0.594353	T	0.16300	0.0392	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.32693	-0.9897	10	0.87932	D	0	1.6708	1.315	0.02105	0.2249:0.16:0.4508:0.1643	.	209	Q96R06	SPAG5_HUMAN	L	209	ENSP00000323300:P209L	ENSP00000323300:P209L	P	-	2	0	SPAG5	23943763	0.006000	0.16342	0.063000	0.19743	0.075000	0.17131	0.479000	0.22228	0.083000	0.17047	0.655000	0.94253	CCC		0.483	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461	
ADAMTS10	81794	broad.mit.edu	37	19	8661947	8661947	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr19:8661947C>T	ENST00000597188.1	-	8	1234	c.964G>A	c.(964-966)Gtg>Atg	p.V322M	ADAMTS10_ENST00000596709.1_5'Flank|ADAMTS10_ENST00000270328.4_Missense_Mutation_p.V322M	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	322	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CTGTGGTTCACGATGGATTTC	0.572																																						uc002mkj.1																			0				pancreas(2)|skin(2)	4						c.(964-966)GTG>ATG		ADAM metallopeptidase with thrombospondin type 1							102.0	89.0	93.0					19																	8661947		2203	4300	6503	SO:0001583	missense	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8661947C>T	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.964G>A	19.37:g.8661947C>T	ENSP00000471851:p.Val322Met					ADAMTS10_uc002mkk.1_Translation_Start_Site	p.V322M	NM_030957	NP_112219	Q9H324	ATS10_HUMAN			8	1238	-			322			Peptidase M12B.		M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	c.964G>A	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.957463	0.73902	.	.	ENSG00000142303	ENST00000270328;ENST00000393912	T	0.63417	-0.04	5.4	5.4	0.78164	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.175593	0.38663	U	0.001601	T	0.61924	0.2386	N	0.20685	0.6	0.44366	D	0.997266	D	0.61080	0.989	P	0.55667	0.781	T	0.61133	-0.7124	10	0.33141	T	0.24	.	18.1581	0.89700	0.0:1.0:0.0:0.0	.	322	Q9H324	ATS10_HUMAN	M	322;76	ENSP00000270328:V322M	ENSP00000270328:V322M	V	-	1	0	ADAMTS10	8567947	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.946000	0.40283	2.519000	0.84933	0.563000	0.77884	GTG		0.572	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957	
SLC1A6	6511	broad.mit.edu	37	19	15073138	15073138	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr19:15073138G>A	ENST00000221742.3	-	5	618	c.611C>T	c.(610-612)aCg>aTg	p.T204M	SLC1A6_ENST00000600144.1_Missense_Mutation_p.T204M|SLC1A6_ENST00000430939.2_Missense_Mutation_p.T140M|SLC1A6_ENST00000598504.1_Missense_Mutation_p.T204M|SLC1A6_ENST00000544886.2_Missense_Mutation_p.T204M	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	204					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.T204M(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						TACCACCCTCGTGCTGTACTG	0.532																																						uc002naa.1																			1	Substitution - Missense(1)		prostate(1)	pancreas(3)|ovary(2)|skin(1)	6						c.(610-612)ACG>ATG		solute carrier family 1 (high affinity	L-Glutamic Acid(DB00142)						112.0	103.0	106.0					19																	15073138		2203	4300	6503	SO:0001583	missense	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15073138G>A		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.611C>T	19.37:g.15073138G>A	ENSP00000221742:p.Thr204Met					SLC1A6_uc010dzu.1_Missense_Mutation_p.T204M|SLC1A6_uc010xod.1_Missense_Mutation_p.T140M|SLC1A6_uc002nab.2_Missense_Mutation_p.T204M|SLC1A6_uc002nac.2_Missense_Mutation_p.T204M	p.T204M	NM_005071	NP_005062	P48664	EAA4_HUMAN			5	619	-			204			Extracellular (Potential).		Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	c.611C>T	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	g	15.97	2.989592	0.53934	.	.	ENSG00000105143	ENST00000430939;ENST00000221742;ENST00000544886	T;T;T	0.71698	-0.59;0.46;1.19	4.42	4.42	0.53409	.	0.157903	0.56097	D	0.000039	T	0.80665	0.4666	M	0.62723	1.935	0.45330	D	0.99832	D;D;P	0.76494	0.968;0.999;0.845	P;D;B	0.66716	0.49;0.946;0.34	T	0.82542	-0.0405	10	0.62326	D	0.03	-18.7563	14.6221	0.68594	0.0:0.0:1.0:0.0	.	140;204;204	E7EV13;Q8N753;P48664	.;.;EAA4_HUMAN	M	140;204;204	ENSP00000409386:T140M;ENSP00000221742:T204M;ENSP00000446175:T204M	ENSP00000221742:T204M	T	-	2	0	SLC1A6	14934138	1.000000	0.71417	0.994000	0.49952	0.756000	0.42949	4.482000	0.60257	2.310000	0.77875	0.454000	0.30748	ACG		0.532	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071	
HIF3A	64344	broad.mit.edu	37	19	46807322	46807322	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr19:46807322G>A	ENST00000377670.4	+	2	225	c.194G>A	c.(193-195)cGc>cAc	p.R65H	RNU6-924P_ENST00000362926.1_RNA|HIF3A_ENST00000600383.1_Missense_Mutation_p.A45T|HIF3A_ENST00000420102.2_Missense_Mutation_p.A63T|HIF3A_ENST00000300862.3_Missense_Mutation_p.R63H|HIF3A_ENST00000472815.1_Missense_Mutation_p.A45T|HIF3A_ENST00000339613.2_Missense_Mutation_p.R9H|HIF3A_ENST00000244303.6_Missense_Mutation_p.A45T	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	65	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		AGCTACCTGCGCATGCACCGC	0.672																																						uc002peh.2																			0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(193-195)CGC>CAC		hypoxia inducible factor 3, alpha subunit							7.0	9.0	8.0					19																	46807322		2176	4250	6426	SO:0001583	missense	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46807322G>A	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.194G>A	19.37:g.46807322G>A	ENSP00000366898:p.Arg65His					HIF3A_uc002pef.1_Missense_Mutation_p.R65H|HIF3A_uc002peg.3_Missense_Mutation_p.R65H|HIF3A_uc010xxx.1_RNA|HIF3A_uc002pei.3_Missense_Mutation_p.R9H|HIF3A_uc002pej.1_Missense_Mutation_p.A45T|HIF3A_uc002pek.2_Missense_Mutation_p.R9H|HIF3A_uc010xxy.1_Missense_Mutation_p.A45T|HIF3A_uc002pel.2_Missense_Mutation_p.R63H|HIF3A_uc010xxz.1_Missense_Mutation_p.A63T	p.R65H	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	2	223	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	65			Helix-loop-helix motif.		B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	ENST00000377670.4	37	c.194G>A	CCDS12681.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.526779|5.526779	0.96431|0.96431	.|.	.|.	ENSG00000124440|ENSG00000124440	ENST00000457865;ENST00000244303;ENST00000533145;ENST00000457771;ENST00000420102|ENST00000475432;ENST00000244302;ENST00000377670;ENST00000414707;ENST00000339613;ENST00000472815;ENST00000291300;ENST00000300862	T;T|T;T;T	0.64438|0.62364	-0.07;-0.1|0.03;0.12;0.03	4.68|4.68	4.68|4.68	0.58851|0.58851	.|Helix-loop-helix DNA-binding (3);	.|0.000000	.|0.41712	.|D	.|0.000827	T|T	0.75510|0.75510	0.3859|0.3859	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	D;D;D|D;D;D;D;D	0.59767|0.89917	0.986;0.976;0.957|1.0;1.0;1.0;1.0;1.0	P;B;B|D;D;D;D;D	0.47626|0.91635	0.552;0.349;0.196|0.999;0.997;0.997;0.996;0.999	T|T	0.76942|0.76942	-0.2772|-0.2772	9|10	0.66056|0.59425	D|D	0.02|0.04	.|.	15.4904|15.4904	0.75602|0.75602	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	63;45;63|63;9;65;65;65	F5H884;B4DNA2;B4DSD9|Q9Y2N7-2;A8MPQ1;Q9Y2N7;B0M185;E7EWV6	.;.;.|.;.;HIF3A_HUMAN;.;.	T|H	45;45;45;45;63|65;65;65;65;9;86;9;63	ENSP00000244303:A45T;ENSP00000407771:A63T|ENSP00000366898:R65H;ENSP00000341877:R9H;ENSP00000300862:R63H	ENSP00000244303:A45T|ENSP00000244302:R65H	A|R	+|+	1|2	0|0	HIF3A|HIF3A	51499162|51499162	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.461000|6.461000	0.73522|0.73522	2.599000|2.599000	0.87857|0.87857	0.563000|0.563000	0.77884|0.77884	GCA|CGC		0.672	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3		
SIGLEC14	100049587	broad.mit.edu	37	19	52149086	52149086	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr19:52149086G>A	ENST00000360844.6	-	3	690	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C	SIGLEC5_ENST00000534261.2_5'Flank|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000222107.4_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	217	Ig-like C2-type 1.				cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.R217C(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GCTCCTTGGCGTTTCACCTGA	0.642																																						uc002pxf.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(649-651)CGC>TGC		sialic acid binding Ig-like lectin 14 precursor							83.0	78.0	80.0					19																	52149086		2071	4200	6271	SO:0001583	missense	100049587				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	g.chr19:52149086G>A	AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.649C>T	19.37:g.52149086G>A	ENSP00000354090:p.Arg217Cys						p.R217C	NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)	3	769	-		all_neural(266;0.0299)	217			Ig-like C2-type 1.|Extracellular (Potential).		Q6UXG0	Missense_Mutation	SNP	ENST00000360844.6	37	c.649C>T	CCDS42604.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.636410	0.67130	.	.	ENSG00000254415	ENST00000360844	D	0.86030	-2.06	3.1	-2.51	0.06365	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.859160	0.03111	N	0.162492	T	0.72358	0.3450	N	0.03608	-0.345	0.09310	N	1	D	0.76494	0.999	P	0.51324	0.666	T	0.63466	-0.6631	10	0.72032	D	0.01	.	0.6088	0.00757	0.2484:0.1895:0.3691:0.1931	.	217	Q08ET2	SIG14_HUMAN	C	217	ENSP00000354090:R217C	ENSP00000354090:R217C	R	-	1	0	SIGLEC14	56840898	0.000000	0.05858	0.000000	0.03702	0.768000	0.43524	-0.391000	0.07323	-0.501000	0.06605	0.514000	0.50259	CGC		0.642	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466899.2	NM_001098612	
NLRP5	126206	broad.mit.edu	37	19	56552352	56552352	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr19:56552352C>T	ENST00000390649.3	+	11	2851	c.2851C>T	c.(2851-2853)Cgg>Tgg	p.R951W		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	951					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CGTCAGCAACCGGAGCTTGAC	0.562																																						uc002qmj.2																			0				ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(2851-2853)CGG>TGG		NACHT, LRR and PYD containing protein 5							114.0	113.0	113.0					19																	56552352		2037	4215	6252	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56552352C>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2851C>T	19.37:g.56552352C>T	ENSP00000375063:p.Arg951Trp					NLRP5_uc002qmi.2_Missense_Mutation_p.R932W	p.R951W	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	11	2851	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	951			LRR 8.		A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.2851C>T	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.566238	0.45694	.	.	ENSG00000171487	ENST00000390649	T	0.64085	-0.08	4.37	2.15	0.27550	.	1.165660	0.06891	N	0.804302	T	0.66925	0.2839	L	0.51914	1.62	0.09310	N	1	D	0.71674	0.998	P	0.55871	0.786	T	0.52041	-0.8628	10	0.87932	D	0	.	5.5434	0.17051	0.1971:0.6962:0.0:0.1067	.	951	P59047	NALP5_HUMAN	W	951	ENSP00000375063:R951W	ENSP00000375063:R951W	R	+	1	2	NLRP5	61244164	0.001000	0.12720	0.006000	0.13384	0.052000	0.14988	0.517000	0.22832	0.518000	0.28383	0.655000	0.94253	CGG		0.562	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447	
PQLC3	130814	broad.mit.edu	37	2	11300636	11300636	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr2:11300636C>T	ENST00000295083.3	+	2	363	c.188C>T	c.(187-189)cCg>cTg	p.P63L	PQLC3_ENST00000441908.2_Missense_Mutation_p.P63L|PQLC3_ENST00000402361.1_Missense_Mutation_p.P63L|PQLC3_ENST00000476787.1_3'UTR	NM_152391.3	NP_689604.1	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3	63						integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		GGGTATCCGCCGCTGACCTAC	0.617																																						uc002rbc.2																			0					0						c.(187-189)CCG>CTG		PQ loop repeat containing 3 precursor							155.0	132.0	140.0					2																	11300636		2203	4300	6503	SO:0001583	missense	130814					integral to membrane		g.chr2:11300636C>T	BC027625	CCDS1679.1, CCDS62856.1, CCDS62857.1	2p25.1	2004-02-05	2005-07-19	2005-07-19	ENSG00000162976	ENSG00000162976			28503	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 22"""	C2orf22		12477932	Standard	NM_001282711		Approved	MGC33602	uc002rbc.3	Q8N755	OTTHUMG00000119055	ENST00000295083.3:c.188C>T	2.37:g.11300636C>T	ENSP00000295083:p.Pro63Leu					PQLC3_uc010yjk.1_Missense_Mutation_p.P63L	p.P63L	NM_152391	NP_689604	Q8N755	PQLC3_HUMAN		Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)	2	321	+	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)		63					B2R8K1|B4DWA4	Missense_Mutation	SNP	ENST00000295083.3	37	c.188C>T	CCDS1679.1	.	.	.	.	.	.	.	.	.	.	C	4.504	0.093449	0.08632	.	.	ENSG00000162976	ENST00000445402;ENST00000295083;ENST00000441908;ENST00000402361	D;D;D;D	0.98150	-4.75;-4.75;-4.75;-4.75	5.01	2.65	0.31530	.	0.154636	0.44688	N	0.000432	D	0.88194	0.6371	N	0.01048	-1.04	0.39359	D	0.965886	B;B	0.09022	0.002;0.002	B;B	0.10450	0.005;0.005	T	0.78823	-0.2052	10	0.23891	T	0.37	-10.8156	6.8502	0.24010	0.0:0.196:0.0:0.804	.	63;63	B4DWA4;Q8N755	.;PQLC3_HUMAN	L	86;63;63;63	ENSP00000410430:P86L;ENSP00000295083:P63L;ENSP00000406148:P63L;ENSP00000384129:P63L	ENSP00000295083:P63L	P	+	2	0	PQLC3	11218087	1.000000	0.71417	0.987000	0.45799	0.966000	0.64601	3.287000	0.51732	0.264000	0.21851	-0.367000	0.07326	CCG		0.617	PQLC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239266.4	NM_152391	
THSD7B	80731	broad.mit.edu	37	2	137814211	137814211	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr2:137814211C>T	ENST00000409968.1	+	3	539	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C	THSD7B_ENST00000413152.2_Missense_Mutation_p.R90C|THSD7B_ENST00000272643.3_Missense_Mutation_p.R121C|THSD7B_ENST00000543459.1_5'Flank			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	121	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCCTTACGCTCGCGGTGAAGT	0.542																																						uc002tva.1																			0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(268-270)CGC>TGC		thrombospondin, type I, domain containing 7B							77.0	84.0	81.0					2																	137814211		2062	4203	6265	SO:0001583	missense	80731							g.chr2:137814211C>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.361C>T	2.37:g.137814211C>T	ENSP00000387145:p.Arg121Cys					THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_5'UTR	p.R90C	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	2	268	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.268C>T		.	.	.	.	.	.	.	.	.	.	C	12.18	1.862074	0.32884	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.24538	2.38;2.24;1.85	6.07	6.07	0.98685	.	0.972227	0.08512	N	0.934707	T	0.17323	0.0416	N	0.14661	0.345	0.23936	N	0.996414	B	0.33528	0.416	B	0.26614	0.071	T	0.15896	-1.0421	9	.	.	.	.	15.1216	0.72447	0.0:0.8591:0.1409:0.0	.	90	C9JKN6	.	C	121;121;90	ENSP00000387145:R121C;ENSP00000272643:R121C;ENSP00000413841:R90C	.	R	+	1	0	THSD7B	137530681	0.000000	0.05858	0.016000	0.15963	0.142000	0.21351	0.968000	0.29357	2.890000	0.99128	0.585000	0.79938	CGC		0.542	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9	
SCN7A	6332	broad.mit.edu	37	2	167262867	167262867	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr2:167262867C>A	ENST00000409855.1	-	25	4398	c.4272G>T	c.(4270-4272)atG>atT	p.M1424I		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1424					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	AAAGACAGAGCATACTGTTGC	0.348																																						uc002udu.1																			0				large_intestine(1)	1						c.(4270-4272)ATG>ATT		sodium channel, voltage-gated, type VII, alpha							184.0	177.0	179.0					2																	167262867		1896	4154	6050	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167262867C>A	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.4272G>T	2.37:g.167262867C>A	ENSP00000386796:p.Met1424Ile						p.M1424I	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			25	4399	-			1424						Missense_Mutation	SNP	ENST00000409855.1	37	c.4272G>T	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.870400	0.33069	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.98474	-4.95	5.14	5.14	0.70334	Ion transport (1);	0.072922	0.64402	D	0.000020	D	0.96470	0.8848	L	0.50333	1.59	0.44129	D	0.996918	B	0.19200	0.034	B	0.18871	0.023	D	0.93882	0.7172	10	0.31617	T	0.26	.	16.4754	0.84131	0.0:1.0:0.0:0.0	.	1424	Q01118	SCN7A_HUMAN	I	1424	ENSP00000386796:M1424I	ENSP00000259060:M1424I	M	-	3	0	SCN7A	166971113	0.996000	0.38824	1.000000	0.80357	0.987000	0.75469	0.479000	0.22228	2.835000	0.97688	0.591000	0.81541	ATG		0.348	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1		
PLEKHA3	65977	broad.mit.edu	37	2	179365815	179365815	+	Silent	SNP	A	A	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr2:179365815A>T	ENST00000234453.5	+	7	1089	c.687A>T	c.(685-687)gtA>gtT	p.V229V		NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3	229						Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			AAGAACCAGTATCTACACTTC	0.378																																						uc002umn.2																			0				ovary(1)|kidney(1)	2						c.(685-687)GTA>GTT		pleckstrin homology domain containing, family A							95.0	102.0	99.0					2																	179365815		2203	4300	6503	SO:0001819	synonymous_variant	65977					cytoplasm|membrane		g.chr2:179365815A>T	AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"""Pleckstrin homology (PH) domain containing"""	14338	protein-coding gene	gene with protein product	"""four-phosphate-adaptor protein 1"""	607774	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"""			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446	ENST00000234453.5:c.687A>T	2.37:g.179365815A>T							p.V229V	NM_019091	NP_061964	Q9HB20	PKHA3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)		7	1085	+			229					Q4ZG69|Q86TQ1|Q9NXT3	Silent	SNP	ENST00000234453.5	37	c.687A>T	CCDS33336.1																																																																																				0.378	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335241.2	NM_019091	
SPATS2L	26010	broad.mit.edu	37	2	201303921	201303921	+	Silent	SNP	A	A	C			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr2:201303921A>C	ENST00000358677.5	+	7	769	c.522A>C	c.(520-522)tcA>tcC	p.S174S	SPATS2L_ENST00000409385.1_Silent_p.S114S|SPATS2L_ENST00000409151.1_Silent_p.S182S|SPATS2L_ENST00000409755.3_Silent_p.S204S|SPATS2L_ENST00000451764.2_Silent_p.S174S|SPATS2L_ENST00000360760.5_Intron|SPATS2L_ENST00000409140.3_Silent_p.S174S|SPATS2L_ENST00000409718.1_Silent_p.S174S|SPATS2L_ENST00000409988.3_Silent_p.S174S	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	174						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						CAGAGAGGTCAGATGGCCTAC	0.448																																						uc002uvn.3																			0				ovary(2)|pancreas(1)	3						c.(520-522)TCA>TCC		SPATS2-like protein isoform a							119.0	112.0	115.0					2																	201303921		1918	4105	6023	SO:0001819	synonymous_variant	26010					cytoplasm|nucleolus		g.chr2:201303921A>C	AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"""DNA polymerase transactivated protein 6"""	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.522A>C	2.37:g.201303921A>C						SPATS2L_uc010fst.2_Silent_p.S174S|SPATS2L_uc002uvo.3_Silent_p.S114S|SPATS2L_uc002uvp.3_Silent_p.S174S|SPATS2L_uc002uvq.3_Intron|SPATS2L_uc002uvr.3_Silent_p.S174S|SPATS2L_uc010zhc.1_Silent_p.S204S	p.S174S	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN			7	874	+			174					A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Silent	SNP	ENST00000358677.5	37	c.522A>C	CCDS46483.1																																																																																				0.448	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336208.3	NM_015535	
UGT1A6	54578	broad.mit.edu	37	2	234602327	234602327	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr2:234602327T>G	ENST00000305139.6	+	1	816	c.677T>G	c.(676-678)tTt>tGt	p.F226C	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000406651.1_5'Flank|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000373424.1_Intron|AC114812.8_ENST00000439336.1_RNA	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	226					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	TATTGTCTGTTTTCAAAGTAT	0.398																																						uc002vuv.3																			0					0						c.(676-678)TTT>TGT		UDP glycosyltransferase 1 family, polypeptide A6							139.0	144.0	142.0					2																	234602327		2203	4300	6503	SO:0001583	missense	54578				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr2:234602327T>G	M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.677T>G	2.37:g.234602327T>G	ENSP00000303174:p.Phe226Cys					UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Missense_Mutation_p.F226C	p.F226C	NM_001072	NP_001063	P19224	UD16_HUMAN		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	1	816	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)	226					A6NKK6|B8K289|Q96TE7	Missense_Mutation	SNP	ENST00000305139.6	37	c.677T>G	CCDS2507.1	.	.	.	.	.	.	.	.	.	.	T	11.78	1.740636	0.30865	.	.	ENSG00000167165	ENST00000305139	T	0.06768	3.26	5.31	0.0127	0.14093	.	.	.	.	.	T	0.14830	0.0358	L	0.38175	1.15	0.09310	N	1	D;D	0.65815	0.995;0.971	D;D	0.64687	0.913;0.928	T	0.17198	-1.0377	9	0.54805	T	0.06	.	7.9464	0.29989	0.4214:0.106:0.0:0.4726	.	226;226	B8K289;P19224	.;UD16_HUMAN	C	226	ENSP00000303174:F226C	ENSP00000303174:F226C	F	+	2	0	UGT1A6	234267066	0.000000	0.05858	0.002000	0.10522	0.264000	0.26372	0.180000	0.16860	-0.133000	0.11537	-0.339000	0.08088	TTT		0.398	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862	
PER2	8864	broad.mit.edu	37	2	239157720	239157720	+	Missense_Mutation	SNP	C	C	T	rs566173372		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr2:239157720C>T	ENST00000254657.3	-	22	3880	c.3601G>A	c.(3601-3603)Gca>Aca	p.A1201T	AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	1201	CRY binding domain. {ECO:0000250|UniProtKB:Q9Z301}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TCGATGGCTGCGGGCAGGCCG	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		13025	0.0		0.0	False		,,,				2504	0.001					uc002vyc.2																			0				upper_aerodigestive_tract(1)|breast(1)	2						c.(3601-3603)GCA>ACA		period 2							110.0	122.0	118.0					2																	239157720		2203	4300	6503	SO:0001583	missense	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239157720C>T	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.3601G>A	2.37:g.239157720C>T	ENSP00000254657:p.Ala1201Thr					PER2_uc010znv.1_Missense_Mutation_p.A1201T	p.A1201T	NM_022817	NP_073728	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	22	3838	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	1201			CRY binding domain (By similarity).		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	c.3601G>A	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.266661	0.23136	.	.	ENSG00000132326	ENST00000254657	T	0.14022	2.54	5.2	-10.4	0.00318	Period circadian-like, C-terminal (1);	1.078900	0.07096	N	0.839661	T	0.05960	0.0155	N	0.13235	0.315	0.09310	N	1	B;B	0.18610	0.029;0.029	B;B	0.15484	0.013;0.013	T	0.30707	-0.9969	10	0.25106	T	0.35	-0.2481	8.8382	0.35126	0.0736:0.0815:0.2195:0.6254	.	1201;1201	B4DH14;O15055	.;PER2_HUMAN	T	1201	ENSP00000254657:A1201T	ENSP00000254657:A1201T	A	-	1	0	PER2	238822459	0.150000	0.22732	0.000000	0.03702	0.005000	0.04900	0.223000	0.17719	-3.405000	0.00170	-1.261000	0.01458	GCA		0.562	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817	
SEL1L2	80343	broad.mit.edu	37	20	13830889	13830889	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr20:13830889G>A	ENST00000284951.5	-	19	1969	c.1895C>T	c.(1894-1896)gCc>gTc	p.A632V	SEL1L2_ENST00000378072.5_Missense_Mutation_p.A519V|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	632						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TTTCATGACGGCAAAGAGCAC	0.458																																						uc010gcf.2																			0				ovary(2)	2						c.(1894-1896)GCC>GTC		sel-1 suppressor of lin-12-like 2 precursor							113.0	110.0	111.0					20																	13830889		1988	4163	6151	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13830889G>A	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1895C>T	20.37:g.13830889G>A	ENSP00000284951:p.Ala632Val					SEL1L2_uc002woq.3_Missense_Mutation_p.A493V|SEL1L2_uc010zrl.1_Missense_Mutation_p.A519V|SEL1L2_uc002wor.2_RNA	p.A632V	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN			19	1977	-			632			Extracellular (Potential).		B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.1895C>T		.	.	.	.	.	.	.	.	.	.	G	35	5.457295	0.96223	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.58940	0.3;1.77	5.97	5.97	0.96955	.	0.092184	0.47852	D	0.000215	T	0.77505	0.4140	M	0.77313	2.365	0.58432	D	0.999999	D;D	0.76494	0.997;0.999	D;D	0.80764	0.985;0.994	T	0.78494	-0.2182	10	0.66056	D	0.02	-4.6879	17.9177	0.88957	0.0:0.0:1.0:0.0	.	519;632	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	V	519;632	ENSP00000367312:A519V;ENSP00000284951:A632V	ENSP00000284951:A632V	A	-	2	0	SEL1L2	13778889	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.775000	0.91772	2.828000	0.97474	0.655000	0.94253	GCC		0.458	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229	
TSHZ2	128553	broad.mit.edu	37	20	51870967	51870967	+	Missense_Mutation	SNP	G	G	A	rs138844500		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr20:51870967G>A	ENST00000371497.5	+	2	1857	c.970G>A	c.(970-972)Gtt>Att	p.V324I	TSHZ2_ENST00000603338.2_Missense_Mutation_p.V321I|TSHZ2_ENST00000329613.6_Missense_Mutation_p.V321I|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	324					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V324F(1)|p.V324I(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TAAGAAACGCGTTTTTGATGT	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		21871	0.0		0.001	False		,,,				2504	0.0					uc002xwo.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(970-972)GTT>ATT		teashirt zinc finger homeobox 2		G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	77.0	84.0	81.0		961,970	4.8	0.2	20	dbSNP_134	81	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense	TSHZ2	NM_001193421.1,NM_173485.5	29,29	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	possibly-damaging,possibly-damaging	321/1032,324/1035	51870967	5,13001	2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51870967G>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.970G>A	20.37:g.51870967G>A	ENSP00000360552:p.Val324Ile						p.V324I	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	1926	+			324					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.970G>A	CCDS33490.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.55	2.271790	0.40194	0.0	5.81E-4	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.14391	2.51;2.51	5.8	4.85	0.62838	.	0.112140	0.64402	D	0.000010	T	0.11793	0.0287	L	0.34521	1.04	0.47659	D	0.999482	D	0.58268	0.982	B	0.39935	0.314	T	0.04029	-1.0983	10	0.44086	T	0.13	-0.5563	15.1363	0.72569	0.0679:0.0:0.9321:0.0	.	324	Q9NRE2	TSH2_HUMAN	I	324;321	ENSP00000360552:V324I;ENSP00000333114:V321I	ENSP00000333114:V321I	V	+	1	0	TSHZ2	51304374	1.000000	0.71417	0.214000	0.23707	0.558000	0.35554	4.532000	0.60608	1.451000	0.47736	0.643000	0.83706	GTT		0.458	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485	
SIM2	6493	broad.mit.edu	37	21	38092132	38092132	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr21:38092132C>T	ENST00000290399.6	+	4	972	c.359C>T	c.(358-360)aCg>aTg	p.T120M	SIM2_ENST00000430056.3_Missense_Mutation_p.T120M	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	120	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	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(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GTGGAGCTCACGGGCAACAGT	0.602																																						uc002yvr.2																			0				central_nervous_system(1)	1						c.(358-360)ACG>ATG		single-minded homolog 2 long isoform							72.0	66.0	68.0					21																	38092132		2203	4300	6503	SO:0001583	missense	6493				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:38092132C>T		CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"""Basic helix-loop-helix proteins"""	10883	protein-coding gene	gene with protein product	"""transcription factor SIM2"""	600892	"""single-minded (Drosophila) homolog 2"", ""single-minded homolog 2 (Drosophila)"""	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.359C>T	21.37:g.38092132C>T	ENSP00000290399:p.Thr120Met					SIM2_uc002yvq.2_Missense_Mutation_p.T120M	p.T120M	NM_005069	NP_005060	Q14190	SIM2_HUMAN			4	415	+			120			PAS 1.		O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Missense_Mutation	SNP	ENST00000290399.6	37	c.359C>T	CCDS13646.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840102	0.91117	.	.	ENSG00000159263	ENST00000290399;ENST00000430056	T;T	0.17213	2.29;2.29	5.49	5.49	0.81192	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.40743	0.1129	L	0.52823	1.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.13980	-1.0489	10	0.87932	D	0	.	19.3811	0.94536	0.0:1.0:0.0:0.0	.	120;120	Q14190;Q14190-2	SIM2_HUMAN;.	M	120	ENSP00000290399:T120M;ENSP00000404176:T120M	ENSP00000290399:T120M	T	+	2	0	SIM2	37014002	1.000000	0.71417	0.996000	0.52242	0.954000	0.61252	7.229000	0.78088	2.591000	0.87537	0.655000	0.94253	ACG		0.602	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194692.1	NM_009586	
GCAT	23464	broad.mit.edu	37	22	38211153	38211153	+	Silent	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr22:38211153G>A	ENST00000248924.6	+	5	653	c.597G>A	c.(595-597)gtG>gtA	p.V199V	GCAT_ENST00000323205.6_Silent_p.V225V	NM_014291.3	NP_055106.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	199					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|L-threonine catabolic process to glycine (GO:0019518)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	glycine C-acetyltransferase activity (GO:0008890)|pyridoxal phosphate binding (GO:0030170)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)	TGCGCCTGGTGGCCACTGATG	0.577																																						uc003atz.2																			0					0						c.(595-597)GTG>GTA		glycine C-acetyltransferase precursor	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						48.0	45.0	46.0					22																	38211153		2203	4300	6503	SO:0001819	synonymous_variant	23464				biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr22:38211153G>A	AF077740	CCDS13957.1, CCDS54527.1	22q13.1	2010-01-19	2010-01-19		ENSG00000100116	ENSG00000100116	2.3.1.29		4188	protein-coding gene	gene with protein product	"""2-amino-3-ketobutyrate coenzyme A ligase"""	607422	"""glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase)"""				Standard	NM_014291		Approved	KBL	uc003aua.2	O75600	OTTHUMG00000150664	ENST00000248924.6:c.597G>A	22.37:g.38211153G>A						GCAT_uc003aua.1_Silent_p.V225V	p.V199V	NM_014291	NP_055106	O75600	KBL_HUMAN			5	617	+	Melanoma(58;0.045)		199					E2QC23|Q6ZWF1|Q96CA9	Silent	SNP	ENST00000248924.6	37	c.597G>A	CCDS13957.1																																																																																				0.577	GCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319506.1	NM_014291.2	
CLSTN2	64084	broad.mit.edu	37	3	140275468	140275468	+	Silent	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr3:140275468G>A	ENST00000458420.3	+	11	1978	c.1788G>A	c.(1786-1788)gcG>gcA	p.A596A		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	596					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TCCCAACGGCGGGTGTGCGGC	0.577										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	uc003etn.2																			0				skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(1786-1788)GCG>GCA		calsyntenin 2 precursor							99.0	89.0	93.0					3																	140275468		2203	4300	6503	SO:0001819	synonymous_variant	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140275468G>A	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1788G>A	3.37:g.140275468G>A		HNSCC(16;0.037)				CLSTN2_uc003etm.2_Silent_p.A596A	p.A596A	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			11	1978	+			596			Extracellular (Potential).		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Silent	SNP	ENST00000458420.3	37	c.1788G>A	CCDS3112.1																																																																																				0.577	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131	
ZBTB38	253461	broad.mit.edu	37	3	141163945	141163945	+	Silent	SNP	C	C	T	rs376715153		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr3:141163945C>T	ENST00000514251.1	+	4	2994	c.2715C>T	c.(2713-2715)gaC>gaT	p.D905D	ZBTB38_ENST00000441582.2_Silent_p.D905D|ZBTB38_ENST00000321464.5_Silent_p.D906D					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TGTTCGATGACGCAAGTGACC	0.498																																						uc003etw.2																			0				ovary(3)	3						c.(2713-2715)GAC>GAT		zinc finger and BTB domain containing 38							58.0	59.0	58.0					3																	141163945		1997	4167	6164	SO:0001819	synonymous_variant	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141163945C>T	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.2715C>T	3.37:g.141163945C>T						ZBTB38_uc010hun.2_Silent_p.D902D|ZBTB38_uc010huo.2_Silent_p.D905D|ZBTB38_uc003ety.2_Silent_p.D905D|ZBTB38_uc010hup.2_Silent_p.D906D	p.D905D	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN			8	3697	+			905						Silent	SNP	ENST00000514251.1	37	c.2715C>T	CCDS43157.1																																																																																				0.498	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2		
GRK7	131890	broad.mit.edu	37	3	141499458	141499458	+	Silent	SNP	G	G	A	rs377371842		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr3:141499458G>A	ENST00000264952.2	+	2	992	c.855G>A	c.(853-855)acG>acA	p.T285T		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	285	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						ACGTGGGCACGCGTGGCCTGG	0.557																																						uc011bnd.1																			0				lung(2)|stomach(1)|ovary(1)|skin(1)	5						c.(853-855)ACG>ACA		G-protein-coupled receptor kinase 7 precursor		G		0,4406		0,0,2203	107.0	101.0	103.0		855	-8.4	0.0	3		103	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GRK7	NM_139209.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		285/554	141499458	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141499458G>A		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.855G>A	3.37:g.141499458G>A							p.T285T	NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN			2	939	+			285			Protein kinase.			Silent	SNP	ENST00000264952.2	37	c.855G>A	CCDS3120.1																																																																																				0.557	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209	
TPRG1	285386	broad.mit.edu	37	3	189038544	189038544	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr3:189038544A>T	ENST00000345063.3	+	6	930	c.763A>T	c.(763-765)Atg>Ttg	p.M255L	TPRG1_ENST00000433971.1_Missense_Mutation_p.M255L	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	255						cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		CACAGGGCTGATGTCATTCAT	0.433																																						uc003frv.1																			0					0						c.(763-765)ATG>TTG		tumor protein p63 regulated 1							113.0	101.0	105.0					3																	189038544		2203	4300	6503	SO:0001583	missense	285386							g.chr3:189038544A>T	AK125682	CCDS3292.1	3q28	2008-02-04	2008-01-16	2008-01-16	ENSG00000188001	ENSG00000188001			24759	protein-coding gene	gene with protein product			"""family with sequence similarity 79, member B"""	FAM79B			Standard	NM_198485		Approved	FLJ41238, FLJ43694	uc003frw.2	Q6ZUI0	OTTHUMG00000156321	ENST00000345063.3:c.763A>T	3.37:g.189038544A>T	ENSP00000341031:p.Met255Leu					TPRG1_uc003frw.1_Missense_Mutation_p.M255L	p.M255L	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)	11	1990	+	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	255						Missense_Mutation	SNP	ENST00000345063.3	37	c.763A>T	CCDS3292.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.551856	0.86127	.	.	ENSG00000188001	ENST00000433971;ENST00000345063	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.74854	0.3771	M	0.74647	2.275	0.54753	D	0.999987	P	0.39940	0.696	P	0.54238	0.746	T	0.74506	-0.3643	8	.	.	.	-26.6894	13.9016	0.63806	1.0:0.0:0.0:0.0	.	255	Q6ZUI0	TPRG1_HUMAN	L	255	.	.	M	+	1	0	TPRG1	190521238	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.939000	0.63526	2.173000	0.68751	0.460000	0.39030	ATG		0.433	TPRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343931.1	NM_198485	
GAK	2580	broad.mit.edu	37	4	860238	860238	+	Missense_Mutation	SNP	T	T	C	rs200252102		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr4:860238T>C	ENST00000314167.4	-	22	3067	c.2957A>G	c.(2956-2958)aAt>aGt	p.N986S	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.N907S	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	986					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		AGAGTCCGAATTGAGAAATTC	0.622													T|||	1	0.000199681	0.0	0.0014	5008	,	,		17270	0.0		0.0	False		,,,				2504	0.0					uc003gbm.3																			0				lung(2)|central_nervous_system(1)|skin(1)	4						c.(2956-2958)AAT>AGT		cyclin G associated kinase							90.0	86.0	88.0					4																	860238		2203	4300	6503	SO:0001583	missense	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:860238T>C	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.2957A>G	4.37:g.860238T>C	ENSP00000314499:p.Asn986Ser					GAK_uc003gbn.3_Missense_Mutation_p.N907S|GAK_uc010ibi.2_Missense_Mutation_p.N167S|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Missense_Mutation_p.N839S	p.N986S	NM_005255	NP_005246	O14976	GAK_HUMAN		Colorectal(103;0.219)	22	3156	-			986					Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	37	c.2957A>G	CCDS3340.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	T|T	9.871|9.871	1.198935|1.198935	0.22121|0.22121	.|.	.|.	ENSG00000178950|ENSG00000178950	ENST00000511980|ENST00000398567;ENST00000314167;ENST00000511163	.|T;T	.|0.76060	.|-0.58;-0.99	5.14|5.14	-1.79|-1.79	0.07932|0.07932	.|.	.|0.719550	.|0.14607	.|N	.|0.309297	T|T	0.56848|0.56848	0.2013|0.2013	L|L	0.35644|0.35644	1.08|1.08	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.15473	.|0.004;0.013;0.002;0.004	.|B;B;B;B	.|0.19148	.|0.024;0.018;0.009;0.004	T|T	0.38067|0.38067	-0.9678|-0.9678	5|10	.|0.20046	.|T	.|0.44	-0.9337|-0.9337	6.4361|6.4361	0.21825|0.21825	0.0:0.4269:0.163:0.4101|0.0:0.4269:0.163:0.4101	.|.	.|888;907;986;871	.|B4DS37;E9PGR2;O14976;Q59HA5	.|.;.;GAK_HUMAN;.	V|S	98|262;986;907	.|ENSP00000314499:N986S;ENSP00000421361:N907S	.|ENSP00000314499:N986S	I|N	-|-	1|2	0|0	GAK|GAK	850238|850238	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.041000|0.041000	0.13682|0.13682	0.304000|0.304000	0.19228|0.19228	-0.565000|-0.565000	0.06061|0.06061	-0.361000|-0.361000	0.07541|0.07541	ATT|AAT		0.622	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255	
HTRA3	94031	broad.mit.edu	37	4	8307709	8307709	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr4:8307709A>G	ENST00000307358.2	+	9	1412	c.1208A>G	c.(1207-1209)cAa>cGa	p.Q403R		NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	403	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						GGCGGCATCCAAGATGGTGAC	0.647																																						uc003gla.2																			0				ovary(1)	1						c.(1207-1209)CAA>CGA		HtrA serine peptidase 3 precursor							102.0	91.0	95.0					4																	8307709		2203	4300	6503	SO:0001583	missense	94031				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr4:8307709A>G	AY040094	CCDS3400.1, CCDS75105.1	4p16.1	2008-02-05			ENSG00000170801	ENSG00000170801			30406	protein-coding gene	gene with protein product	"""pregnancy-related serine protease"""	608785				12513693, 14500695	Standard	XM_005248040		Approved	Tasp, Prsp	uc003gla.3	P83110	OTTHUMG00000090561	ENST00000307358.2:c.1208A>G	4.37:g.8307709A>G	ENSP00000303766:p.Gln403Arg						p.Q403R	NM_053044	NP_444272	P83110	HTRA3_HUMAN			9	1412	+			403			PDZ.		Q7Z7A2	Missense_Mutation	SNP	ENST00000307358.2	37	c.1208A>G	CCDS3400.1	.	.	.	.	.	.	.	.	.	.	A	8.473	0.857947	0.17178	.	.	ENSG00000170801	ENST00000307358	T	0.71934	-0.61	4.08	4.08	0.47627	PDZ/DHR/GLGF (4);	0.281603	0.34652	N	0.003791	T	0.47340	0.1440	N	0.05414	-0.055	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.40346	-0.9568	10	0.10111	T	0.7	-15.1546	13.3595	0.60648	1.0:0.0:0.0:0.0	.	403	P83110	HTRA3_HUMAN	R	403	ENSP00000303766:Q403R	ENSP00000303766:Q403R	Q	+	2	0	HTRA3	8358609	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.548000	0.60718	1.635000	0.50512	0.248000	0.18094	CAA		0.647	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092669.1	NM_053044	
RASSF6	166824	broad.mit.edu	37	4	74477540	74477540	+	Silent	SNP	G	G	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr4:74477540G>T	ENST00000342081.3	-	2	199	c.69C>A	c.(67-69)tcC>tcA	p.S23S	RASSF6_ENST00000512591.1_5'UTR|RASSF6_ENST00000307439.5_5'UTR|RASSF6_ENST00000395777.2_5'UTR|RASSF6_ENST00000335049.5_Intron	NM_201431.2	NP_958834.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	23					apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)					breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GATGGTCTGAGGATATCCTAA	0.343																																						uc003hhd.1																			0				pancreas(2)	2						c.(67-69)TCC>TCA		Ras association (RalGDS/AF-6) domain family 6							192.0	180.0	184.0					4																	74477540		2203	4300	6503	SO:0001819	synonymous_variant	166824				apoptosis|signal transduction		protein binding	g.chr4:74477540G>T	AY217664	CCDS3558.1, CCDS3559.1, CCDS58904.1, CCDS58905.1	4q21.1	2008-02-22	2008-02-22		ENSG00000169435	ENSG00000169435			20796	protein-coding gene	gene with protein product		612620					Standard	NM_177532		Approved		uc003hhd.2	Q6ZTQ3	OTTHUMG00000130007	ENST00000342081.3:c.69C>A	4.37:g.74477540G>T						RASSF6_uc003hhc.1_5'UTR|RASSF6_uc010iik.1_5'UTR|RASSF6_uc010iil.1_Intron	p.S23S	NM_201431	NP_958834	Q6ZTQ3	RASF6_HUMAN	all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		2	192	-	Breast(15;0.00102)		23					Q68DT2|Q6PDA6|Q86WG9|Q86WH0	Silent	SNP	ENST00000342081.3	37	c.69C>A	CCDS3558.1																																																																																				0.343	RASSF6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252279.1	NM_177532	
FRAS1	80144	broad.mit.edu	37	4	79343100	79343100	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr4:79343100C>T	ENST00000325942.6	+	34	5064	c.4624C>T	c.(4624-4626)Cgc>Tgc	p.R1542C	FRAS1_ENST00000264895.6_Missense_Mutation_p.R1542C	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1542					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGTCATGTACCGCCCTCCCCC	0.567																																						uc003hlb.2																			0				large_intestine(5)	5						c.(4624-4626)CGC>TGC		Fraser syndrome 1							147.0	162.0	157.0					4																	79343100		2059	4183	6242	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79343100C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.4624C>T	4.37:g.79343100C>T	ENSP00000326330:p.Arg1542Cys					FRAS1_uc003hkw.2_Missense_Mutation_p.R1542C|FRAS1_uc010ijj.1_Intron	p.R1542C	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			34	5064	+			1541			CSPG 4.|Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.4624C>T	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575333	0.86645	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	T;T	0.69175	-0.38;-0.38	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.83294	0.5223	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84377	0.0547	10	0.87932	D	0	.	19.6863	0.95981	0.0:1.0:0.0:0.0	.	1542;1542	E9PHH6;A2RRR8	.;.	C	1542	ENSP00000326330:R1542C;ENSP00000264895:R1542C	ENSP00000264895:R1542C	R	+	1	0	FRAS1	79562124	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.024000	0.64090	2.746000	0.94184	0.591000	0.81541	CGC		0.567	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2		
ETNPPL	64850	broad.mit.edu	37	4	109667592	109667592	+	Silent	SNP	T	T	C	rs372406167		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr4:109667592T>C	ENST00000296486.3	-	11	1420	c.1266A>G	c.(1264-1266)gcA>gcG	p.A422A	ETNPPL_ENST00000510706.1_Silent_p.A382A|ETNPPL_ENST00000411864.2_Silent_p.A416A|ETNPPL_ENST00000512646.1_Silent_p.A364A	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	422						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)										CCATGAACTTTGCATCTTCTT	0.423																																						uc003hzc.2																			0				ovary(1)	1						c.(1264-1266)GCA>GCG		alanine-glyoxylate aminotransferase 2-like 1		T	,,	0,4406		0,0,2203	121.0	109.0	113.0		1248,1092,1266	-10.1	0.0	4		113	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	AGXT2L1	NM_001146590.1,NM_001146627.1,NM_031279.3	,,	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	,,	416/494,364/442,422/500	109667592	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64850				cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr4:109667592T>C	AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"""alanine-glyoxylate aminotransferase 2-like 1"""	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.1266A>G	4.37:g.109667592T>C						AGXT2L1_uc010imc.2_Silent_p.A416A|AGXT2L1_uc011cfm.1_Silent_p.A382A|AGXT2L1_uc011cfn.1_Silent_p.A349A|AGXT2L1_uc011cfo.1_Silent_p.A364A	p.A422A	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000281)	11	1447	-			422					B7Z1Y0|E9PBY0|Q9H174	Silent	SNP	ENST00000296486.3	37	c.1266A>G	CCDS3682.1																																																																																				0.423	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279	
TRIO	7204	broad.mit.edu	37	5	14389446	14389446	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr5:14389446A>G	ENST00000344204.4	+	25	4021	c.3997A>G	c.(3997-3999)Att>Gtt	p.I1333V	TRIO_ENST00000537187.1_Missense_Mutation_p.I1333V|TRIO_ENST00000509967.2_Missense_Mutation_p.I1284V	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1333	DH 1. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCCACCTGGCATTGTAAACAA	0.408																																						uc003jff.2																			0				skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(3997-3999)ATT>GTT		triple functional domain (PTPRF interacting)							105.0	105.0	105.0					5																	14389446		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14389446A>G	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.3997A>G	5.37:g.14389446A>G	ENSP00000339299:p.Ile1333Val					TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.I1284V|TRIO_uc003jfh.1_Missense_Mutation_p.I982V	p.I1333V	NM_007118	NP_009049	O75962	TRIO_HUMAN			25	4003	+	Lung NSC(4;0.000742)		1333			DH 1.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.3997A>G	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	A	17.24	3.338900	0.60963	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.62498	0.02;0.02;0.02	6.03	6.03	0.97812	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.55146	0.1902	L	0.37750	1.13	0.54753	D	0.999986	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.08055	0.001;0.003;0.003	T	0.49790	-0.8902	10	0.48119	T	0.1	.	16.5582	0.84512	1.0:0.0:0.0:0.0	.	1284;1333;1333	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	V	1333;1333;1284;1020	ENSP00000339299:I1333V;ENSP00000446348:I1333V;ENSP00000445592:I1284V	ENSP00000339299:I1333V	I	+	1	0	TRIO	14442446	1.000000	0.71417	0.992000	0.48379	0.833000	0.47200	9.339000	0.96797	2.308000	0.77769	0.533000	0.62120	ATT		0.408	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118	
AP3B1	8546	broad.mit.edu	37	5	77477403	77477403	+	Silent	SNP	C	C	T	rs566729844		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr5:77477403C>T	ENST00000255194.6	-	8	1045	c.870G>A	c.(868-870)ccG>ccA	p.P290P	AP3B1_ENST00000519295.1_Silent_p.P241P	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	290					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		CCATAGTATACGGCTTCTTCT	0.343									Hermansky-Pudlak syndrome																													uc003kfj.2																			0				central_nervous_system(1)	1						c.(868-870)CCG>CCA		adaptor-related protein complex 3, beta 1							123.0	121.0	122.0					5																	77477403		2203	4299	6502	SO:0001819	synonymous_variant	8546	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77477403C>T	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.870G>A	5.37:g.77477403C>T							p.P290P	NM_003664	NP_003655	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	8	995	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	290					E5RJ68|O00580|Q7Z393|Q9HD66	Silent	SNP	ENST00000255194.6	37	c.870G>A	CCDS4041.1																																																																																				0.343	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2		
RGMB	285704	broad.mit.edu	37	5	98128833	98128833	+	Silent	SNP	A	A	G			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr5:98128833A>G	ENST00000513185.1	+	3	1126	c.690A>G	c.(688-690)aaA>aaG	p.K230K	RGMB_ENST00000308234.7_Silent_p.K271K			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	230					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		CAGATCAGAAAGTCTACCAAG	0.527																																						uc003knc.2																			0					0						c.(811-813)AAA>AAG		RGM domain family, member B							53.0	52.0	52.0					5																	98128833		2020	4185	6205	SO:0001819	synonymous_variant	285704				axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding	g.chr5:98128833A>G	AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"""RGM domain family, member B"""			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.690A>G	5.37:g.98128833A>G							p.K271K	NM_001012761	NP_001012779	Q6NW40	RGMB_HUMAN		COAD - Colon adenocarcinoma(37;0.0587)	5	1215	+		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)	230					D6R9A0|Q8NC92	Silent	SNP	ENST00000513185.1	37	c.813A>G																																																																																					0.527	RGMB-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370308.1	NM_173670	
PCDHA13	56136	broad.mit.edu	37	5	140263481	140263481	+	Missense_Mutation	SNP	C	C	T	rs199847007		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr5:140263481C>T	ENST00000289272.2	+	1	1628	c.1628C>T	c.(1627-1629)cCg>cTg	p.P543L	PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.P543L|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	543	Cadherin 5. {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)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGGCGTGCCGCCTCTGGGC	0.692																																					Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2																			0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1627-1629)CCG>CTG		protocadherin alpha 13 isoform 1 precursor							72.0	78.0	76.0					5																	140263481		2203	4299	6502	SO:0001583	missense	56136				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140263481C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1628C>T	5.37:g.140263481C>T	ENSP00000289272:p.Pro543Leu					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_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.P543L|PCDHA13_uc003lid.2_Missense_Mutation_p.P543L	p.P543L	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1628	+			543			Cadherin 5.|Extracellular (Potential).		O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.1628C>T	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742533	0.69418	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.57436	0.4;0.4	4.39	3.51	0.40186	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.75339	0.3836	M	0.88310	2.945	0.53005	D	0.999962	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.957;0.991;0.984	T	0.80999	-0.1131	9	0.87932	D	0	.	13.9759	0.64273	0.0:0.8466:0.1534:0.0	.	543;543;543	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	L	543	ENSP00000386821:P543L;ENSP00000289272:P543L	ENSP00000289272:P543L	P	+	2	0	PCDHA13	140243665	0.997000	0.39634	0.712000	0.30502	0.928000	0.56348	3.997000	0.57016	1.027000	0.39758	0.561000	0.74099	CCG		0.692	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904	
PCDHGA3	56112	broad.mit.edu	37	5	140725753	140725753	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr5:140725753G>A	ENST00000253812.6	+	1	2153	c.2153G>A	c.(2152-2154)cGc>cAc	p.R718H	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	718					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCTGCGGCGCTGGCACAAG	0.677																																						uc003ljm.1																			0				breast(1)	1						c.(2152-2154)CGC>CAC		protocadherin gamma subfamily A, 3 isoform 1							64.0	71.0	69.0					5																	140725753		2203	4297	6500	SO:0001583	missense	56112				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140725753G>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.2153G>A	5.37:g.140725753G>A	ENSP00000253812:p.Arg718His					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.R478H|PCDHGA3_uc011dap.1_Missense_Mutation_p.R718H	p.R718H	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2153	+			718			Cytoplasmic (Potential).		Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.2153G>A	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	14.92	2.678445	0.47886	.	.	ENSG00000254245	ENST00000253812	T	0.21734	1.99	5.16	2.37	0.29283	.	0.344076	0.12505	U	0.462970	T	0.21227	0.0511	L	0.56769	1.78	0.19945	N	0.999942	B;B	0.29115	0.233;0.01	B;B	0.25759	0.063;0.02	T	0.12400	-1.0549	10	0.41790	T	0.15	.	10.8218	0.46610	0.2223:0.0:0.7777:0.0	.	718;718	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	H	718	ENSP00000253812:R718H	ENSP00000253812:R718H	R	+	2	0	PCDHGA3	140705937	0.002000	0.14202	0.934000	0.37439	0.575000	0.36095	1.342000	0.33919	0.693000	0.31634	0.563000	0.77884	CGC		0.677	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916	
SPDL1	54908	broad.mit.edu	37	5	169028402	169028402	+	Silent	SNP	G	G	A	rs529689293		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr5:169028402G>A	ENST00000265295.4	+	11	1722	c.1443G>A	c.(1441-1443)ccG>ccA	p.P481P		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		ATCGATTACCGCCTCAGAAAG	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		17485	0.0		0.0	False		,,,				2504	0.001					uc003mae.3																			0				ovary(1)|liver(1)	2						c.(1441-1443)CCG>CCA		coiled-coil domain containing 99							105.0	107.0	106.0					5																	169028402		2203	4300	6503	SO:0001819	synonymous_variant	54908				cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding	g.chr5:169028402G>A	BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"""spindly homolog (Drosophila)"""		"""coiled-coil domain containing 99"""	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.1443G>A	5.37:g.169028402G>A						CCDC99_uc010jjj.2_Silent_p.P410P|CCDC99_uc011deq.1_Silent_p.P298P|CCDC99_uc010jjk.2_Silent_p.P207P	p.P481P	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	1722	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	481						Silent	SNP	ENST00000265295.4	37	c.1443G>A	CCDS4370.1																																																																																				0.438	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252829.2	NM_017785	
ZSCAN31	64288	broad.mit.edu	37	6	28297413	28297413	+	Silent	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr6:28297413C>T	ENST00000414429.1	-	6	951	c.48G>A	c.(46-48)gaG>gaA	p.E16E	ZSCAN31_ENST00000396838.2_Silent_p.E16E|ZSCAN31_ENST00000446474.1_Intron|ZSCAN31_ENST00000481934.1_5'Flank|ZSCAN31_ENST00000344279.6_Silent_p.E16E|ZSCAN31_ENST00000439158.1_Silent_p.E16E			Q96LW9	ZSC31_HUMAN	zinc finger and SCAN domain containing 31	16					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TAGGGTCTTCCTCCACTTTCA	0.448																																						uc003nla.2																			0				ovary(1)|skin(1)	2						c.(46-48)GAG>GAA		zinc finger protein 323							84.0	81.0	82.0					6																	28297413		2203	4300	6503	SO:0001819	synonymous_variant	64288				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28297413C>T		CCDS4649.1, CCDS59001.1	6p	2013-01-09	2013-01-08	2013-01-08	ENSG00000235109	ENSG00000235109		"""-"", ""Zinc fingers, C2H2-type"""	14097	protein-coding gene	gene with protein product		610794	"""zinc finger protein 310 pseudogene"", ""zinc finger protein 323"""	ZNF310P, ZNF323			Standard	NM_001135216		Approved		uc003nla.3	Q96LW9	OTTHUMG00000014518	ENST00000414429.1:c.48G>A	6.37:g.28297413C>T						ZNF323_uc003nld.2_Silent_p.E16E|ZNF323_uc010jra.2_Silent_p.E16E|ZNF323_uc003nlb.2_Intron|ZNF323_uc010jrb.2_Intron|ZNF323_uc003nlc.2_Silent_p.E16E	p.E16E	NM_001135216	NP_001128688	Q96LW9	ZN323_HUMAN			2	448	-			16					Q6P178|Q8WWS5	Silent	SNP	ENST00000414429.1	37	c.48G>A	CCDS4649.1																																																																																				0.448	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346804.1	NM_030899	
EHMT2	10919	broad.mit.edu	37	6	31856011	31856011	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr6:31856011G>A	ENST00000375537.4	-	13	1558	c.1552C>T	c.(1552-1554)Cgc>Tgc	p.R518C	EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.R541C|EHMT2_ENST00000375530.4_Missense_Mutation_p.R484C|EHMT2_ENST00000395728.3_Missense_Mutation_p.R575C	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	518					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TTGTGGAAGCGGTGGGCCACA	0.622																																						uc003nxz.1																			0				ovary(1)	1						c.(1552-1554)CGC>TGC		euchromatic histone-lysine N-methyltransferase 2							69.0	64.0	66.0					6																	31856011		1508	2709	4217	SO:0001583	missense	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31856011G>A	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.1552C>T	6.37:g.31856011G>A	ENSP00000364687:p.Arg518Cys					EHMT2_uc003nxx.1_5'Flank|EHMT2_uc003nxy.1_Missense_Mutation_p.R309C|EHMT2_uc011don.1_Missense_Mutation_p.R541C|EHMT2_uc003nya.1_Missense_Mutation_p.R484C	p.R518C	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN			13	1562	-			518					B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	c.1552C>T	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055865	0.76074	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.73469	-0.75;-0.55;-0.49;-0.74	4.56	4.56	0.56223	.	0.000000	0.64402	D	0.000001	T	0.81903	0.4921	M	0.67397	2.05	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.991;0.995;0.988;0.991	D	0.83927	0.0304	10	0.66056	D	0.02	.	16.2436	0.82429	0.0:0.0:1.0:0.0	.	541;484;518;332	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	C	575;541;484;518;332	ENSP00000379078:R575C;ENSP00000364678:R541C;ENSP00000364680:R484C;ENSP00000364687:R518C	ENSP00000364678:R541C	R	-	1	0	EHMT2	31963990	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.218000	0.95166	2.358000	0.79984	0.555000	0.69702	CGC		0.622	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709	
SLC26A8	116369	broad.mit.edu	37	6	35980127	35980127	+	Nonsense_Mutation	SNP	G	G	A	rs201650524		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr6:35980127G>A	ENST00000490799.1	-	3	564	c.211C>T	c.(211-213)Cga>Tga	p.R71*	SLC26A8_ENST00000355574.2_Nonsense_Mutation_p.R71*|SLC26A8_ENST00000394602.2_Nonsense_Mutation_p.R71*	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						AGCACGCATCGTAGGAACCTG	0.468																																						uc003olm.2																			0				ovary(2)	2						c.(211-213)CGA>TGA		solute carrier family 26, member 8 isoform a							145.0	133.0	137.0					6																	35980127		2203	4300	6503	SO:0001587	stop_gained	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35980127G>A	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.211C>T	6.37:g.35980127G>A	ENSP00000417638:p.Arg71*					SLC26A8_uc003oln.2_Nonsense_Mutation_p.R71*|SLC26A8_uc003oll.2_Nonsense_Mutation_p.R71*	p.R71*	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN			3	322	-			71			Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000490799.1	37	c.211C>T	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	G	36	5.805946	0.96967	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574;ENST00000480663	.	.	.	5.81	4.66	0.58398	.	0.619767	0.15937	N	0.237391	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9731	0.41765	0.0:0.0:0.1799:0.8201	.	.	.	.	X	71;71;71;157	.	ENSP00000347778:R71X	R	-	1	2	SLC26A8	36088105	0.005000	0.15991	0.170000	0.22879	0.859000	0.49053	1.088000	0.30877	1.035000	0.39972	-0.271000	0.10264	CGA		0.468	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2		
RAPGEF5	9771	broad.mit.edu	37	7	22202112	22202112	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr7:22202112G>A	ENST00000401957.2	-	3	669	c.422C>T	c.(421-423)cCg>cTg	p.P141L	RAPGEF5_ENST00000344041.6_Missense_Mutation_p.P291L			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	141	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TTTCCTACGCGGAACGTCTGA	0.343																																						uc003svg.2																			0				ovary(1)	1						c.(871-873)CCG>CTG		Rap guanine nucleotide exchange factor (GEF) 5							78.0	76.0	77.0					7																	22202112		1843	4086	5929	SO:0001583	missense	9771				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity	g.chr7:22202112G>A	D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"""M-Ras-regulated GEF"""	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000401957.2:c.422C>T	7.37:g.22202112G>A	ENSP00000384044:p.Pro141Leu					RAPGEF5_uc011jyl.1_5'UTR	p.P291L	NM_012294	NP_036426	Q92565	RPGF5_HUMAN			13	1185	-			141			N-terminal Ras-GEF.		A4D140|Q8IXU5	Missense_Mutation	SNP	ENST00000401957.2	37	c.872C>T		.	.	.	.	.	.	.	.	.	.	G	14.36	2.510739	0.44660	.	.	ENSG00000136237	ENST00000344041;ENST00000425852;ENST00000258735;ENST00000401957;ENST00000458533	T;T;T	0.51071	0.72;0.72;1.68	5.47	5.47	0.80525	.	0.284825	0.37577	N	0.002028	T	0.15609	0.0376	N	0.00677	-1.265	0.45852	D	0.998713	B	0.12630	0.006	B	0.10450	0.005	T	0.31916	-0.9926	10	0.02654	T	1	.	12.6465	0.56738	0.0758:0.0:0.9242:0.0	.	291	A8MQ07	.	L	291;141;141;141;29	ENSP00000343656:P291L;ENSP00000384044:P141L;ENSP00000415664:P29L	ENSP00000258735:P141L	P	-	2	0	RAPGEF5	22168637	1.000000	0.71417	0.998000	0.56505	0.909000	0.53808	6.279000	0.72620	2.547000	0.85894	0.643000	0.83706	CCG		0.343	RAPGEF5-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000326590.2	NM_012294	
ANLN	54443	broad.mit.edu	37	7	36478889	36478889	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr7:36478889G>C	ENST00000265748.2	+	21	3181	c.2960G>C	c.(2959-2961)aGa>aCa	p.R987T	ANLN_ENST00000396068.2_Missense_Mutation_p.R950T	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	987	Localization to the cleavage furrow.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GTTGAAGAAAGAGGTTTTCTA	0.303																																						uc003tff.2																			0				ovary(2)|skin(1)	3						c.(2959-2961)AGA>ACA		anillin, actin binding protein							79.0	77.0	78.0					7																	36478889		2195	4291	6486	SO:0001583	missense	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36478889G>C	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.2960G>C	7.37:g.36478889G>C	ENSP00000265748:p.Arg987Thr					ANLN_uc011kaz.1_Missense_Mutation_p.R899T|ANLN_uc003tfg.2_Missense_Mutation_p.R950T|ANLN_uc010kxe.2_Missense_Mutation_p.R949T	p.R987T	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN			21	3164	+			987			PH.|Localization to the cleavage furrow.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	c.2960G>C	CCDS5447.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	13.61|13.61|13.61	2.288127|2.288127|2.288127	0.40494|0.40494|0.40494	.|.|.	.|.|.	ENSG00000011426|ENSG00000011426|ENSG00000011426	ENST00000457743|ENST00000428612|ENST00000265748;ENST00000396068	.|.|T;T	.|.|0.75477	.|.|-0.94;-0.94	5.16|5.16|5.16	2.06|2.06|2.06	0.26882|0.26882|0.26882	.|.|Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.|.|0.189149	.|.|0.53938	.|.|D	.|.|0.000050	T|T|T	0.71409|0.71409|0.71409	0.3336|0.3336|0.3336	M|M|M	0.69248|0.69248|0.69248	2.105|2.105|2.105	0.30797|0.30797|0.30797	N|N|N	0.740284|0.740284|0.740284	.|.|P;P;P;P	.|.|0.47910	.|.|0.882;0.902;0.88;0.902	.|.|B;P;B;P	.|.|0.45037	.|.|0.383;0.467;0.336;0.467	T|T|T	0.71547|0.71547|0.71547	-0.4560|-0.4560|-0.4560	5|5|10	.|.|0.66056	.|.|D	.|.|0.02	-2.1956|-2.1956|-2.1956	7.7195|7.7195|7.7195	0.28723|0.28723|0.28723	0.5772:0.0:0.4228:0.0|0.5772:0.0:0.4228:0.0|0.5772:0.0:0.4228:0.0	.|.|.	.|.|864;949;950;987	.|.|B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.|.|.;.;.;ANLN_HUMAN	Q|N|T	209|151|987;950	.|.|ENSP00000265748:R987T;ENSP00000379380:R950T	.|.|ENSP00000265748:R987T	E|K|R	+|+|+	1|3|2	0|2|0	ANLN|ANLN|ANLN	36445414|36445414|36445414	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.999000|0.999000|0.999000	0.59377|0.59377|0.59377	0.955000|0.955000|0.955000	0.61496|0.61496|0.61496	0.875000|0.875000|0.875000	0.28079|0.28079|0.28079	0.153000|0.153000|0.153000	0.19213|0.19213|0.19213	-0.136000|-0.136000|-0.136000	0.14681|0.14681|0.14681	GAG|AAG|AGA		0.303	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685	
TNS3	64759	broad.mit.edu	37	7	47336762	47336762	+	Silent	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr7:47336762G>A	ENST00000398879.1	-	24	3960	c.3594C>T	c.(3592-3594)gaC>gaT	p.D1198D	TNS3_ENST00000355730.3_Silent_p.D958D|TNS3_ENST00000311160.9_Silent_p.D1198D			Q68CZ2	TENS3_HUMAN	tensin 3	1198	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						AGGAATGGCTGTCTCGAACAA	0.567																																						uc003tnv.2																			0				ovary(4)	4						c.(3592-3594)GAC>GAT		tensin 3							80.0	87.0	85.0					7																	47336762		1925	4120	6045	SO:0001819	synonymous_variant	64759					focal adhesion	protein binding	g.chr7:47336762G>A	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.3594C>T	7.37:g.47336762G>A						TNS3_uc003tnw.2_Silent_p.D1198D	p.D1198D	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN			24	3961	-			1198			SH2.		B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Silent	SNP	ENST00000398879.1	37	c.3594C>T	CCDS5506.2																																																																																				0.567	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748	
PCLO	27445	broad.mit.edu	37	7	82764222	82764222	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr7:82764222G>A	ENST00000333891.9	-	3	2981	c.2644C>T	c.(2644-2646)Cga>Tga	p.R882*	PCLO_ENST00000423517.2_Nonsense_Mutation_p.R882*	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						GCGGTAGGTCGTGGGCCAGGG	0.517																																						uc003uhx.2																			0				ovary(7)	7						c.(2644-2646)CGA>TGA		piccolo isoform 1							202.0	203.0	203.0					7																	82764222		1987	4163	6150	SO:0001587	stop_gained	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82764222G>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.2644C>T	7.37:g.82764222G>A	ENSP00000334319:p.Arg882*					PCLO_uc003uhv.2_Nonsense_Mutation_p.R882*	p.R882*	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			3	2933	-			828			Pro-rich.			Nonsense_Mutation	SNP	ENST00000333891.9	37	c.2644C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	45	12.034250	0.99629	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	.	.	.	5.93	2.87	0.33458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.7144	0.34403	0.0793:0.0:0.5472:0.3735	.	.	.	.	X	828;882;882	.	ENSP00000334319:R882X	R	-	1	2	PCLO	82602158	0.996000	0.38824	0.962000	0.40283	0.960000	0.62799	1.088000	0.30877	0.835000	0.34877	0.561000	0.74099	CGA		0.517	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
MUC17	140453	broad.mit.edu	37	7	100674926	100674926	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr7:100674926G>A	ENST00000306151.4	+	3	293	c.229G>A	c.(229-231)Gtg>Atg	p.V77M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	77					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACAAATGTCGTGGAGCCAAG	0.448																																						uc003uxp.1																			0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(229-231)GTG>ATG		mucin 17 precursor							104.0	97.0	99.0					7																	100674926		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100674926G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.229G>A	7.37:g.100674926G>A	ENSP00000302716:p.Val77Met					MUC17_uc010lho.1_RNA	p.V77M	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	282	+	Lung NSC(181;0.136)|all_lung(186;0.182)		77			Extracellular (Potential).		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.229G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	0.001	-2.888800	0.00060	.	.	ENSG00000169876	ENST00000306151	T	0.02763	4.17	0.694	-1.39	0.08997	.	.	.	.	.	T	0.01092	0.0036	N	0.14661	0.345	0.09310	N	1	P	0.49961	0.93	B	0.26693	0.072	T	0.42849	-0.9427	8	0.34782	T	0.22	.	.	.	.	.	77	Q685J3	MUC17_HUMAN	M	77	ENSP00000302716:V77M	ENSP00000302716:V77M	V	+	1	0	MUC17	100461646	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.447000	0.00467	-4.233000	0.00063	-4.557000	0.00004	GTG		0.448	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
ASB10	136371	broad.mit.edu	37	7	150878052	150878052	+	Missense_Mutation	SNP	G	G	A	rs104886484	byFrequency	TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr7:150878052G>A	ENST00000420175.2	-	3	1102	c.1078C>T	c.(1078-1080)Cgt>Tgt	p.R360C	ASB10_ENST00000434669.1_Missense_Mutation_p.R405C|ASB10_ENST00000275838.1_Missense_Mutation_p.R360C|ASB10_ENST00000377867.3_Missense_Mutation_p.R345C|ASB10_ENST00000422024.1_Missense_Mutation_p.R405C			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	360			R -> H (in GLC1F; uncertain pathological significance). {ECO:0000269|PubMed:22156576}.		intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCCAGACACGGACGGCGCCA	0.701													G|||	6	0.00119808	0.0015	0.0	5008	,	,		18127	0.003		0.0	False		,,,				2504	0.001					uc003wjm.1																			0					0						c.(1213-1215)CGT>TGT		ankyrin repeat and SOCS box-containing 10		G	CYS/ARG,CYS/ARG,CYS/ARG	7,4363		0,7,2178	12.0	13.0	12.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1078,1078,1033	2.0	0.8	7	dbSNP_132	12	0,8516		0,0,4258	yes	missense,missense,missense	ASB10	NM_001142459.1,NM_001142460.1,NM_080871.3	180,180,180	0,7,6436	AA,AG,GG		0.0,0.1602,0.0543	probably-damaging,probably-damaging,probably-damaging	360/468,360/430,345/453	150878052	7,12879	2185	4258	6443	SO:0001583	missense	136371				intracellular signal transduction			g.chr7:150878052G>A	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.1078C>T	7.37:g.150878052G>A	ENSP00000391137:p.Arg360Cys					ASB10_uc003wjl.1_Missense_Mutation_p.R405C|ASB10_uc003wjn.1_Missense_Mutation_p.R345C	p.R405C	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1339	-			360			ANK 7.		A0AVH0|Q6ZUL6	Missense_Mutation	SNP	ENST00000420175.2	37	c.1213C>T	CCDS47750.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.63	1.995255	0.35226	0.001602	0.0	ENSG00000146926	ENST00000275838;ENST00000377867;ENST00000422024;ENST00000434669;ENST00000420175	T;T;T;T;T	0.70045	-0.44;-0.4;-0.43;-0.45;-0.44	5.12	2.02	0.26589	.	0.000000	0.85682	D	0.000000	T	0.68778	0.3038	L	0.33624	1.015	0.80722	D	1	D;D;D	0.89917	1.0;0.96;1.0	D;B;D	0.97110	1.0;0.424;0.999	T	0.66650	-0.5870	10	0.54805	T	0.06	-5.4431	7.9246	0.29867	0.0749:0.0:0.5352:0.3899	.	345;360;405	Q8WXI3-3;Q8WXI3;D5MNW9	.;ASB10_HUMAN;.	C	360;345;405;405;360	ENSP00000275838:R360C;ENSP00000367098:R345C;ENSP00000401369:R405C;ENSP00000398247:R405C;ENSP00000391137:R360C	ENSP00000275838:R360C	R	-	1	0	ASB10	150508985	1.000000	0.71417	0.776000	0.31678	0.164000	0.22412	2.266000	0.43320	0.592000	0.29728	0.591000	0.81541	CGT		0.701	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	NM_080871	
KMT2C	58508	broad.mit.edu	37	7	151921652	151921652	+	Missense_Mutation	SNP	A	A	C			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr7:151921652A>C	ENST00000262189.6	-	19	3244	c.3026T>G	c.(3025-3027)gTg>gGg	p.V1009G	KMT2C_ENST00000355193.2_Missense_Mutation_p.V1009G	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1009					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GGCCTCACACACAGTGCACTC	0.448																																						uc003wla.2										N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(3025-3027)GTG>GGG		myeloid/lymphoid or mixed-lineage leukemia 3							17.0	16.0	16.0					7																	151921652		2182	4271	6453	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151921652A>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3026T>G	7.37:g.151921652A>C	ENSP00000262189:p.Val1009Gly					MLL3_uc003wkz.2_Missense_Mutation_p.V70G	p.V1009G	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	19	3245	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	1009			PHD-type 5.|PHD-type 4.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.3026T>G	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.53|17.53	3.413581|3.413581	0.62511|0.62511	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000418673|ENST00000262189;ENST00000355193	.|D;D	.|0.85013	.|-1.93;-1.93	4.84|4.84	4.84|4.84	0.62591|0.62591	.|Zinc finger, PHD-finger (3);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	.|0.000000	.|0.41712	.|D	.|0.000828	D|D	0.93138|0.93138	0.7815|0.7815	M|M	0.88570|0.88570	2.965|2.965	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.998	D|D	0.94411|0.94411	0.7632|0.7632	5|10	.|0.87932	.|D	.|0	.|.	14.4111|14.4111	0.67115|0.67115	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1009;70	.|Q8NEZ4;Q8NEZ4-2	.|MLL3_HUMAN;.	W|G	164|1009	.|ENSP00000262189:V1009G;ENSP00000347325:V1009G	.|ENSP00000262189:V1009G	C|V	-|-	3|2	2|0	MLL3|MLL3	151552585|151552585	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	9.277000|9.277000	0.95755|0.95755	1.813000|1.813000	0.52934|0.52934	0.528000|0.528000	0.53228|0.53228	TGT|GTG		0.448	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		
NFIB	4781	broad.mit.edu	37	9	14307176	14307176	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr9:14307176T>C	ENST00000380959.3	-	2	847	c.374A>G	c.(373-375)gAc>gGc	p.D125G	NFIB_ENST00000397579.2_Missense_Mutation_p.D125G|NFIB_ENST00000397581.2_Missense_Mutation_p.D125G|NFIB_ENST00000380934.4_Missense_Mutation_p.D151G|NFIB_ENST00000380921.3_Missense_Mutation_p.D125G|NFIB_ENST00000397575.3_Missense_Mutation_p.D125G|NFIB_ENST00000380953.1_Missense_Mutation_p.D125G	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	125					anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		CCAGACTTTGTCTGCCTGTCG	0.522			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""																																Esophageal Squamous(132;921 1730 14828 40753 46471)	uc003zle.2				Dom	yes		9	9p24.1	4781	T	nuclear factor I/B			E	MYB|HGMA2		adenoid cystic carcinoma|lipoma		0					0						c.(373-375)GAC>GGC		nuclear factor I/B							111.0	116.0	114.0					9																	14307176		2203	4300	6503	SO:0001583	missense	4781				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr9:14307176T>C	U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.374A>G	9.37:g.14307176T>C	ENSP00000370346:p.Asp125Gly					NFIB_uc003zlf.2_Missense_Mutation_p.D125G|NFIB_uc011lmo.1_Missense_Mutation_p.D125G	p.D125G	NM_005596	NP_005587	O00712	NFIB_HUMAN		GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)	2	809	-			125			CTF/NF-I.		G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Missense_Mutation	SNP	ENST00000380959.3	37	c.374A>G	CCDS6474.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.011155	0.75046	.	.	ENSG00000147862	ENST00000380934;ENST00000380959;ENST00000380953;ENST00000397575;ENST00000397581;ENST00000397579;ENST00000380921	T;T;T;T;T;T	0.73469	-0.58;-0.51;-0.55;-0.71;-0.75;-0.45	5.71	5.71	0.89125	MAD homology 1, Dwarfin-type (2);CTF transcription factor/nuclear factor 1, DNA-binding domain (1);	0.044839	0.85682	D	0.000000	D	0.86711	0.5998	M	0.81802	2.56	0.80722	D	1	B;D;B	0.69078	0.271;0.997;0.409	B;D;B	0.79108	0.16;0.992;0.22	D	0.88549	0.3115	10	0.87932	D	0	.	16.0042	0.80349	0.0:0.0:0.0:1.0	.	125;125;125	Q5VW27;Q5VW29;O00712	.;.;NFIB_HUMAN	G	151;125;125;125;125;125;125	ENSP00000370321:D151G;ENSP00000370346:D125G;ENSP00000370340:D125G;ENSP00000380705:D125G;ENSP00000380711:D125G;ENSP00000380709:D125G	ENSP00000370308:D125G	D	-	2	0	NFIB	14297176	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.171000	0.68590	0.528000	0.53228	GAC		0.522	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1	NM_005596	
SPATA31A6	389730	broad.mit.edu	37	9	43627272	43627272	+	Missense_Mutation	SNP	A	A	G	rs530611724	byFrequency	TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr9:43627272A>G	ENST00000332857.6	-	4	1443	c.1415T>C	c.(1414-1416)cTg>cCg	p.L472P	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	472					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCGGTGGGACAGGGGCTGGGC	0.522													A|||	3	0.000599042	0.0	0.0014	5008	,	,		14261	0.0		0.001	False		,,,				2504	0.001					uc011lrb.1																			0					0						c.(1414-1416)CTG>CCG		hypothetical protein LOC389730							94.0	109.0	105.0					9																	43627272		616	1533	2149	SO:0001583	missense	389730					integral to membrane		g.chr9:43627272A>G		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1415T>C	9.37:g.43627272A>G	ENSP00000329825:p.Leu472Pro						p.L472P	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			4	1444	-			472						Missense_Mutation	SNP	ENST00000332857.6	37	c.1415T>C	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	A	9.407	1.079525	0.20309	.	.	ENSG00000185775	ENST00000332857	T	0.24723	1.84	2.26	-0.312	0.12758	.	1.322040	0.05368	N	0.534949	T	0.18130	0.0435	L	0.35644	1.08	0.18873	N	0.999986	P	0.40398	0.716	B	0.37780	0.258	T	0.17930	-1.0353	10	0.42905	T	0.14	0.4866	2.7066	0.05164	0.5587:0.2757:0.1656:0.0	.	472	Q5VVP1	F75A6_HUMAN	P	472	ENSP00000329825:L472P	ENSP00000329825:L472P	L	-	2	0	FAM75A6	43567268	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.175000	0.09825	-0.064000	0.13043	-0.875000	0.02981	CTG		0.522	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196	
TMC1	117531	broad.mit.edu	37	9	75445373	75445373	+	Silent	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr9:75445373C>T	ENST00000297784.5	+	22	2676	c.2136C>T	c.(2134-2136)gcC>gcT	p.A712A	TMC1_ENST00000396237.3_Silent_p.A712A|TMC1_ENST00000340019.3_Silent_p.A712A|TMC1_ENST00000486417.1_3'UTR	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	712					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TTAGTTTGGCCATCTATTATC	0.303																																					Pancreas(75;173 1345 14232 34245 43413)	uc004aiz.1																			0				ovary(1)	1						c.(2134-2136)GCC>GCT		transmembrane channel-like 1							37.0	42.0	41.0					9																	75445373		2202	4298	6500	SO:0001819	synonymous_variant	117531				sensory perception of sound	integral to membrane		g.chr9:75445373C>T	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.2136C>T	9.37:g.75445373C>T						TMC1_uc010moz.1_Silent_p.A670A|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Silent_p.A566A|TMC1_uc010mpa.1_Silent_p.A566A	p.A712A	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN			22	2676	+			712			Helical; (Potential).		A8MVZ2|B1AM91	Silent	SNP	ENST00000297784.5	37	c.2136C>T	CCDS6643.1																																																																																				0.303	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1		
PMPCA	23203	broad.mit.edu	37	9	139311437	139311437	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr9:139311437G>A	ENST00000371717.3	+	7	677	c.668G>A	c.(667-669)cGt>cAt	p.R223H	PMPCA_ENST00000399219.3_Missense_Mutation_p.R92H|PMPCA_ENST00000462616.1_3'UTR	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	223					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		GGCCTCCACCGTTTCTGCCCC	0.562																																						uc004chl.2																			0					0						c.(667-669)CGT>CAT		peptidase (mitochondrial processing) alpha							68.0	48.0	55.0					9																	139311437		2203	4300	6503	SO:0001583	missense	23203				proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr9:139311437G>A	D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"""inositol polyphosphate-5-phosphatase, 72 kD"""	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.668G>A	9.37:g.139311437G>A	ENSP00000360782:p.Arg223His					PMPCA_uc010nbl.2_Missense_Mutation_p.R123H|PMPCA_uc011mdz.1_Missense_Mutation_p.R92H|PMPCA_uc004chm.1_5'UTR|PMPCA_uc004chn.1_5'Flank	p.R223H	NM_015160	NP_055975	Q10713	MPPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)	7	673	+		Myeloproliferative disorder(178;0.0821)	223					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371717.3	37	c.668G>A	CCDS35180.1	.	.	.	.	.	.	.	.	.	.	G	34	5.333421	0.95758	.	.	ENSG00000165688	ENST00000371717;ENST00000399219	T;T	0.17213	2.29;2.29	5.81	5.81	0.92471	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.31009	0.0783	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.71414	0.915;0.973;0.973	T	0.01363	-1.1374	10	0.46703	T	0.11	.	19.0511	0.93046	0.0:0.0:1.0:0.0	.	92;223;223	B4DKL3;Q5SXM9;Q10713	.;.;MPPA_HUMAN	H	223;92	ENSP00000360782:R223H;ENSP00000416702:R92H	ENSP00000360782:R223H	R	+	2	0	PMPCA	138431258	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	9.520000	0.98027	2.740000	0.93945	0.609000	0.83330	CGT		0.562	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055054.1	NM_015160	
LUZP4	51213	broad.mit.edu	37	X	114541268	114541268	+	Missense_Mutation	SNP	G	G	A	rs201126715		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chrX:114541268G>A	ENST00000371920.3	+	4	848	c.841G>A	c.(841-843)Gtg>Atg	p.V281M	LUZP4_ENST00000451986.2_Missense_Mutation_p.V199M	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	281						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						GAGAGATCTCGTGGCCACTGA	0.428																																						uc004eqa.2																			0				ovary(2)	2						c.(841-843)GTG>ATG		leucine zipper protein 4							85.0	76.0	79.0					X																	114541268		2203	4300	6503	SO:0001583	missense	51213					nucleus		g.chrX:114541268G>A	AF124430	CCDS14567.1	Xq24	2009-03-25			ENSG00000102021	ENSG00000102021			24971	protein-coding gene	gene with protein product	"""cancer/testis antigen 28"""	300616				12032826, 11051238	Standard	XM_005268343		Approved	HOM-TES-85, CT-8, CT28	uc004eqa.3	Q9P127	OTTHUMG00000022234	ENST00000371920.3:c.841G>A	X.37:g.114541268G>A	ENSP00000360988:p.Val281Met					LUZP4_uc004eqb.2_Missense_Mutation_p.V199M	p.V281M	NM_016383	NP_057467	Q9P127	LUZP4_HUMAN			4	875	+			281					B3KSD6	Missense_Mutation	SNP	ENST00000371920.3	37	c.841G>A	CCDS14567.1	.	.	.	.	.	.	.	.	.	.	a	5.700	0.313756	0.10789	.	.	ENSG00000102021	ENST00000451986;ENST00000371920	T;T	0.78003	-1.14;-1.14	3.58	-7.16	0.01516	.	0.642575	0.13045	N	0.418237	T	0.52581	0.1743	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.25847	-1.0120	10	0.41790	T	0.15	.	11.3354	0.49500	0.28:0.1155:0.6045:0.0	.	199;281	B3KSD6;Q9P127	.;LUZP4_HUMAN	M	199;281	ENSP00000411212:V199M;ENSP00000360988:V281M	ENSP00000360988:V281M	V	+	1	0	LUZP4	114447524	0.000000	0.05858	0.000000	0.03702	0.141000	0.21300	-0.794000	0.04584	-2.420000	0.00564	-0.976000	0.02587	GTG		0.428	LUZP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057972.1	NM_016383	
