#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
AGRN	375790	broad.mit.edu	37	1	981868	981868	+	Silent	SNP	C	C	T	rs375208869	byFrequency	TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:981868C>T	ENST00000379370.2	+	18	3053	c.3003C>T	c.(3001-3003)ccC>ccT	p.P1001P		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1001	Ser/Thr-rich.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CGGCCCCCCCCGGCGCCCTCC	0.701													C|||	3	0.000599042	0.0008	0.0	5008	,	,		10689	0.0		0.0	False		,,,				2504	0.002					uc001ack.1		NA																	0				central_nervous_system(2)|breast(1)	3						c.(3001-3003)CCC>CCT		agrin precursor		C		0,4382		0,0,2191	13.0	16.0	15.0		3003	3.6	0.1	1		15	3,8565		0,3,4281	no	coding-synonymous	AGRN	NM_198576.3		0,3,6472	TT,TC,CC		0.035,0.0,0.0232		1001/2046	981868	3,12947	2191	4284	6475	SO:0001819	synonymous_variant	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:981868C>T	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.3003C>T	1.37:g.981868C>T							p.P1001P	NM_198576	NP_940978	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	18	3053	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	1001			Ser/Thr-rich.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Silent	SNP	ENST00000379370.2	37	c.3003C>T	CCDS30551.1																																																																																				0.701	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		4	26	0	0	0	0	4	26				
NBPF1	55672	broad.mit.edu	37	1	16893778	16893778	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:16893778G>A	ENST00000430580.2	-	25	3622	c.2735C>T	c.(2734-2736)tCa>tTa	p.S912L	NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000432949.1_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	912	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					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)		TGAAGGAGTTGAATAACATCT	0.483																																						uc009vos.1		NA																	0					0						c.(2959-2961)TCG>TTG		hypothetical protein LOC55672							588.0	524.0	546.0					1																	16893778		2203	4298	6501	SO:0001583	missense	55672					cytoplasm		g.chr1:16893778G>A	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.2735C>T	1.37:g.16893778G>A	ENSP00000474456:p.Ser912Leu					NBPF1_uc009vot.1_Missense_Mutation_p.S370L|NBPF1_uc001ayz.1_Missense_Mutation_p.S370L|NBPF1_uc010oce.1_Missense_Mutation_p.S641L	p.S987L	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)	26	3848	-			987			NBPF 6.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2960C>T																																																																																					0.483	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		13	791	0	0	0	0	13	791				
UBR4	23352	broad.mit.edu	37	1	19473443	19473443	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:19473443C>T	ENST00000375254.3	-	52	7708	c.7681G>A	c.(7681-7683)Gag>Aag	p.E2561K	UBR4_ENST00000375267.2_Missense_Mutation_p.E2561K|UBR4_ENST00000375226.2_Missense_Mutation_p.E2572K|UBR4_ENST00000375217.2_Missense_Mutation_p.E2561K	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2561					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCCTTGCCCTCTTTGCTAGAT	0.527																																						uc001bbi.2		NA																	0				kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(7681-7683)GAG>AAG		retinoblastoma-associated factor 600							243.0	223.0	230.0					1																	19473443		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19473443C>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.7681G>A	1.37:g.19473443C>T	ENSP00000364403:p.Glu2561Lys					UBR4_uc001bbk.1_Missense_Mutation_p.E215K	p.E2561K	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	52	7685	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	2561					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.7681G>A	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466319	0.63625	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.25250	1.83;1.83;1.85;1.81	5.61	5.61	0.85477	.	0.061193	0.64402	D	0.000005	T	0.19846	0.0477	L	0.27053	0.805	0.80722	D	1	B	0.31318	0.319	B	0.21360	0.034	T	0.02646	-1.1129	10	0.30078	T	0.28	.	19.6344	0.95724	0.0:1.0:0.0:0.0	.	2561	Q5T4S7	UBR4_HUMAN	K	2561;2561;2561;2572;176;1282	ENSP00000364403:E2561K;ENSP00000364416:E2561K;ENSP00000364365:E2561K;ENSP00000364374:E2572K	ENSP00000364365:E2561K	E	-	1	0	UBR4	19346030	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.638000	0.89438	0.563000	0.77884	GAG		0.527	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		57	175	0	0	0	0	57	175				
RPS6KA1	6195	broad.mit.edu	37	1	26898704	26898704	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:26898704G>A	ENST00000374168.2	+	20	2021	c.1867G>A	c.(1867-1869)Gag>Aag	p.E623K	RPS6KA1_ENST00000526792.1_Missense_Mutation_p.E531K|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.E531K|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.E607K|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.E612K|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.E632K	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	623	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		TGACACACCAGAGGAAATCCT	0.567																																						uc001bmr.1		NA																	0				lung(1)	1						c.(1867-1869)GAG>AAG		ribosomal protein S6 kinase, 90kDa, polypeptide							93.0	87.0	89.0					1																	26898704		2203	4300	6503	SO:0001583	missense	6195				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:26898704G>A	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1867G>A	1.37:g.26898704G>A	ENSP00000363283:p.Glu623Lys					RPS6KA1_uc010ofe.1_Missense_Mutation_p.E531K|RPS6KA1_uc010off.1_3'UTR|RPS6KA1_uc001bms.1_Missense_Mutation_p.E632K|RPS6KA1_uc009vsl.1_Missense_Mutation_p.E466K	p.E623K	NM_002953	NP_002944	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	20	2030	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	623			Protein kinase 2.		A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Missense_Mutation	SNP	ENST00000374168.2	37	c.1867G>A	CCDS284.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607138	0.66558	.	.	ENSG00000117676	ENST00000374168;ENST00000374166;ENST00000526792;ENST00000374162;ENST00000530003;ENST00000531382	T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	5.16	5.16	0.70880	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.162618	0.56097	D	0.000033	T	0.48059	0.1479	N	0.16166	0.38	0.80722	D	1	B;B	0.31485	0.005;0.325	B;B	0.27608	0.027;0.081	T	0.54105	-0.8343	10	0.87932	D	0	.	18.8434	0.92194	0.0:0.0:1.0:0.0	.	632;623	Q15418-2;Q15418	.;KS6A1_HUMAN	K	623;612;531;531;607;632	ENSP00000363283:E623K;ENSP00000363281:E612K;ENSP00000431651:E531K;ENSP00000363277:E531K;ENSP00000432281:E607K;ENSP00000435412:E632K	ENSP00000363277:E531K	E	+	1	0	RPS6KA1	26771291	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.533000	0.60615	2.678000	0.91216	0.563000	0.77884	GAG		0.567	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		10	55	0	0	0	0	10	55				
GPATCH3	63906	broad.mit.edu	37	1	27220788	27220788	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:27220788C>T	ENST00000361720.5	-	3	1013	c.990G>A	c.(988-990)gaG>gaA	p.E330E		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	330	Glu-rich.						nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		AGCCACCCTTCTCCCACTTGA	0.582																																						uc001bne.2		NA																	0					0						c.(988-990)GAG>GAA		G patch domain containing 3							180.0	158.0	166.0					1																	27220788		2203	4300	6503	SO:0001819	synonymous_variant	63906					intracellular	nucleic acid binding	g.chr1:27220788C>T	BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"""G patch domain containing"""	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229	ENST00000361720.5:c.990G>A	1.37:g.27220788C>T						GPATCH3_uc009vsp.1_Silent_p.E141E	p.E330E	NM_022078	NP_071361	Q96I76	GPTC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)	3	1019	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	330			Glu-rich.		Q5JYH2|Q8NDJ2|Q9H9Z3	Silent	SNP	ENST00000361720.5	37	c.990G>A	CCDS290.1																																																																																				0.582	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012181.1	NM_022078		41	95	0	0	0	0	41	95				
GPATCH3	63906	broad.mit.edu	37	1	27223839	27223839	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:27223839C>G	ENST00000361720.5	-	2	852	c.829G>C	c.(829-831)Gag>Cag	p.E277Q		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	277	Glu-rich.						nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		ACTTCTTCCTCAGGCTCTCCA	0.542																																						uc001bne.2		NA																	0					0						c.(829-831)GAG>CAG		G patch domain containing 3							182.0	179.0	180.0					1																	27223839		2203	4300	6503	SO:0001583	missense	63906					intracellular	nucleic acid binding	g.chr1:27223839C>G	BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"""G patch domain containing"""	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229	ENST00000361720.5:c.829G>C	1.37:g.27223839C>G	ENSP00000354645:p.Glu277Gln					GPATCH3_uc009vsp.1_Missense_Mutation_p.E88Q	p.E277Q	NM_022078	NP_071361	Q96I76	GPTC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)	2	858	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	277			Glu-rich.		Q5JYH2|Q8NDJ2|Q9H9Z3	Missense_Mutation	SNP	ENST00000361720.5	37	c.829G>C	CCDS290.1	.	.	.	.	.	.	.	.	.	.	C	6.917	0.538904	0.13250	.	.	ENSG00000198746	ENST00000361720;ENST00000536641;ENST00000374122	T	0.46063	0.88	3.79	1.93	0.25924	.	0.315390	0.30879	N	0.008698	T	0.25606	0.0623	N	0.22421	0.69	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.16129	-1.0413	10	0.42905	T	0.14	-0.9536	8.2835	0.31915	0.0:0.808:0.0:0.192	.	277	Q96I76	GPTC3_HUMAN	Q	277;259;88	ENSP00000354645:E277Q	ENSP00000354645:E277Q	E	-	1	0	GPATCH3	27096426	0.032000	0.19561	0.001000	0.08648	0.014000	0.08584	0.547000	0.23299	0.574000	0.29417	0.655000	0.94253	GAG		0.542	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012181.1	NM_022078		48	118	0	0	0	0	48	118				
EYA3	2140	broad.mit.edu	37	1	28374933	28374933	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:28374933T>C	ENST00000373871.3	-	3	278	c.38A>G	c.(37-39)aAa>aGa	p.K13R	EYA3_ENST00000540618.1_Missense_Mutation_p.K13R|EYA3_ENST00000436342.2_5'UTR|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000545175.1_5'UTR|EYA3_ENST00000373863.3_Missense_Mutation_p.K13R|EYA3_ENST00000373864.1_Intron	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	EYA transcriptional coactivator and phosphatase 3	13					anatomical structure morphogenesis (GO:0009653)|double-strand break repair (GO:0006302)|histone dephosphorylation (GO:0016576)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of DNA repair (GO:0045739)|regulation of transcription, DNA-templated (GO:0006355)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		CTTGGCTTTTTTCACCTGCAA	0.289																																						uc001bpi.1		NA																	0				ovary(2)|skin(1)	3						c.(37-39)AAA>AGA		eyes absent 3							75.0	73.0	74.0					1																	28374933		2201	4298	6499	SO:0001583	missense	2140				anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity	g.chr1:28374933T>C	U81602	CCDS316.1, CCDS60050.1, CCDS60051.1, CCDS60052.1	1p36	2014-06-19	2014-06-19		ENSG00000158161	ENSG00000158161		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3521	protein-coding gene	gene with protein product		601655	"""eyes absent (Drosophila) homolog 3"", ""eyes absent homolog 3 (Drosophila)"""			9020840	Standard	NM_001990		Approved	DKFZp686C132	uc001bpi.2	Q99504	OTTHUMG00000003916	ENST00000373871.3:c.38A>G	1.37:g.28374933T>C	ENSP00000362978:p.Lys13Arg					EYA3_uc010ofs.1_5'UTR|EYA3_uc010oft.1_Missense_Mutation_p.K13R|EYA3_uc001bpj.2_Missense_Mutation_p.K13R|EYA3_uc001bpk.1_RNA|EYA3_uc010ofu.1_RNA	p.K13R	NM_001990	NP_001981	Q99504	EYA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)	3	203	-		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	13					A8K190|B4DIR7|B4DNZ7|O95463|Q8IVX7|Q99813	Missense_Mutation	SNP	ENST00000373871.3	37	c.38A>G	CCDS316.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.056753	0.76074	.	.	ENSG00000158161	ENST00000373871;ENST00000540618;ENST00000373863	D;D;D	0.93547	-3.1;-3.24;-3.19	4.82	4.82	0.62117	.	0.189005	0.45867	D	0.000328	D	0.92583	0.7644	N	0.14661	0.345	0.80722	D	1	D;D;D	0.67145	0.974;0.996;0.993	D;D;P	0.76071	0.953;0.987;0.879	D	0.93175	0.6569	10	0.49607	T	0.09	-0.916	13.2443	0.60014	0.0:0.0:0.0:1.0	.	13;13;13	B4DIR7;Q8IVX7;Q99504	.;.;EYA3_HUMAN	R	13	ENSP00000362978:K13R;ENSP00000442558:K13R;ENSP00000362970:K13R	ENSP00000362970:K13R	K	-	2	0	EYA3	28247520	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.653000	0.61462	1.925000	0.55765	0.482000	0.46254	AAA		0.289	EYA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011184.1	NM_001990		8	25	0	0	0	0	8	25				
ZMYM1	79830	broad.mit.edu	37	1	35579545	35579545	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:35579545G>C	ENST00000373330.1	+	11	2288	c.2114G>C	c.(2113-2115)gGa>gCa	p.G705A	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.G705A			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	705						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAGCAAATTGGAGTTGATATG	0.353																																						uc001bym.2		NA																	0					0						c.(2113-2115)GGA>GCA		zinc finger, MYM domain containing 1							73.0	70.0	71.0					1																	35579545		1851	4093	5944	SO:0001583	missense	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35579545G>C	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.2114G>C	1.37:g.35579545G>C	ENSP00000362427:p.Gly705Ala					ZMYM1_uc001byn.2_Missense_Mutation_p.G705A|ZMYM1_uc010ohu.1_Missense_Mutation_p.G686A|ZMYM1_uc001byo.2_Missense_Mutation_p.G345A|ZMYM1_uc009vut.2_Missense_Mutation_p.G630A	p.G705A	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN			11	2262	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	705					D3DPR7|Q7Z3Q4	Missense_Mutation	SNP	ENST00000373330.1	37	c.2114G>C	CCDS41302.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.568998	0.28003	.	.	ENSG00000197056	ENST00000359858;ENST00000373329;ENST00000373330	T;T;T	0.27557	1.66;1.66;1.66	4.33	4.33	0.51752	Ribonuclease H-like (1);	0.144569	0.32473	N	0.006059	T	0.54838	0.1883	M	0.75264	2.295	0.34200	D	0.673094	D;D	0.89917	1.0;0.995	D;D	0.91635	0.999;0.949	T	0.66184	-0.5987	9	.	.	.	-16.5875	15.1504	0.72692	0.0:0.0:1.0:0.0	.	686;705	B4DSJ9;Q5SVZ6	.;ZMYM1_HUMAN	A	705;630;705	ENSP00000352920:G705A;ENSP00000362426:G630A;ENSP00000362427:G705A	.	G	+	2	0	ZMYM1	35352132	1.000000	0.71417	0.264000	0.24511	0.002000	0.02628	2.728000	0.47319	2.695000	0.91970	0.650000	0.86243	GGA		0.353	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		8	43	0	0	0	0	8	43				
ZMYM1	79830	broad.mit.edu	37	1	35579633	35579633	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:35579633G>C	ENST00000373330.1	+	11	2376	c.2202G>C	c.(2200-2202)aaG>aaC	p.K734N	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.K734N			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	734						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAGAATTCAAGAAAGAAGAAC	0.323																																						uc001bym.2		NA																	0					0						c.(2200-2202)AAG>AAC		zinc finger, MYM domain containing 1							51.0	51.0	51.0					1																	35579633		1797	4067	5864	SO:0001583	missense	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35579633G>C	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.2202G>C	1.37:g.35579633G>C	ENSP00000362427:p.Lys734Asn					ZMYM1_uc001byn.2_Missense_Mutation_p.K734N|ZMYM1_uc010ohu.1_Missense_Mutation_p.K715N|ZMYM1_uc001byo.2_Missense_Mutation_p.K374N|ZMYM1_uc009vut.2_Missense_Mutation_p.K659N	p.K734N	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN			11	2350	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	734					D3DPR7|Q7Z3Q4	Missense_Mutation	SNP	ENST00000373330.1	37	c.2202G>C	CCDS41302.1	.	.	.	.	.	.	.	.	.	.	G	9.398	1.077198	0.20227	.	.	ENSG00000197056	ENST00000359858;ENST00000373329;ENST00000373330	T;T;T	0.20332	2.34;2.08;2.34	4.24	2.38	0.29361	Ribonuclease H-like (1);	0.631629	0.14150	N	0.338069	T	0.35799	0.0944	L	0.51422	1.61	0.30844	N	0.735356	D;D	0.71674	0.998;0.994	D;P	0.76071	0.987;0.755	T	0.21042	-1.0257	9	.	.	.	-11.4307	8.668	0.34132	0.1913:0.0:0.8087:0.0	.	715;734	B4DSJ9;Q5SVZ6	.;ZMYM1_HUMAN	N	734;659;734	ENSP00000352920:K734N;ENSP00000362426:K659N;ENSP00000362427:K734N	.	K	+	3	2	ZMYM1	35352220	1.000000	0.71417	1.000000	0.80357	0.197000	0.23852	0.864000	0.27926	0.747000	0.32809	0.557000	0.71058	AAG		0.323	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		12	47	0	0	0	0	12	47				
MFSD2A	84879	broad.mit.edu	37	1	40434278	40434278	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:40434278G>A	ENST00000372809.5	+	13	1572	c.1429G>A	c.(1429-1431)Gaa>Aaa	p.E477K	MFSD2A_ENST00000420632.2_Missense_Mutation_p.E308K|MFSD2A_ENST00000480630.1_3'UTR|MFSD2A_ENST00000372811.5_Missense_Mutation_p.E464K	NM_001136493.1	NP_001129965.1	Q8NA29	NLS1_HUMAN	major facilitator superfamily domain containing 2A	477					establishment of blood-brain barrier (GO:0060856)|fatty acid transport (GO:0015908)|lipid transport across blood brain barrier (GO:1990379)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phospholipid transporter activity (GO:0005548)|symporter activity (GO:0015293)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CTCGCAGCCGGAACGTGTCAA	0.587																																						uc001cev.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1429-1431)GAA>AAA		major facilitator superfamily domain containing							81.0	80.0	80.0					1																	40434278		2203	4300	6503	SO:0001583	missense	84879				transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr1:40434278G>A	AK093223	CCDS446.1, CCDS44118.1, CCDS72762.1	1p34.2	2009-09-08	2009-09-08	2009-09-08	ENSG00000168389	ENSG00000168389			25897	protein-coding gene	gene with protein product		614397	"""major facilitator superfamily domain containing 2"""	MFSD2		18694395	Standard	XM_005271285		Approved	FLJ14490	uc001cev.3	Q8NA29	OTTHUMG00000009293	ENST00000372809.5:c.1429G>A	1.37:g.40434278G>A	ENSP00000361895:p.Glu477Lys					MFSD2A_uc010ojb.1_Missense_Mutation_p.E425K|MFSD2A_uc001ceu.2_Missense_Mutation_p.E464K|MFSD2A_uc010ojc.1_Missense_Mutation_p.E308K|MFSD2A_uc009vvy.2_RNA|MFSD2A_uc001cex.2_Missense_Mutation_p.E128K	p.E477K	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN			13	1610	+			477					A8K675|Q6UWU5|Q96F59|Q9BRC8	Missense_Mutation	SNP	ENST00000372809.5	37	c.1429G>A	CCDS44118.1	.	.	.	.	.	.	.	.	.	.	G	7.693	0.691464	0.15039	.	.	ENSG00000168389	ENST00000372811;ENST00000420632;ENST00000372809	D;D;D	0.87334	-2.24;-2.24;-2.24	5.49	-3.19	0.05171	Major facilitator superfamily domain, general substrate transporter (1);	2.539770	0.01028	N	0.004093	T	0.77260	0.4104	L	0.40543	1.245	0.09310	N	1	B;B;B	0.14805	0.008;0.011;0.009	B;B;B	0.17433	0.011;0.018;0.01	T	0.60791	-0.7193	10	0.08381	T	0.77	17.0161	2.186	0.03887	0.3426:0.098:0.3837:0.1757	.	425;477;464	B4DNN7;Q8NA29;Q8NA29-2	.;MFS2A_HUMAN;.	K	464;308;477	ENSP00000361898:E464K;ENSP00000391261:E308K;ENSP00000361895:E477K	ENSP00000361895:E477K	E	+	1	0	MFSD2A	40206865	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-0.147000	0.10234	-0.362000	0.08113	0.655000	0.94253	GAA		0.587	MFSD2A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025756.1	NM_032793		45	84	0	0	0	0	45	84				
HIVEP3	59269	broad.mit.edu	37	1	41976647	41976647	+	Silent	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:41976647C>G	ENST00000372583.1	-	9	7581	c.6696G>C	c.(6694-6696)ctG>ctC	p.L2232L	HIVEP3_ENST00000247584.5_Silent_p.L2232L|HIVEP3_ENST00000429157.2_Silent_p.L2231L|HIVEP3_ENST00000372584.1_Silent_p.L2231L|HIVEP3_ENST00000460604.1_5'UTR	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2232					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGGCCCCTGTCAGGTCGCTGC	0.692																																						uc001cgz.3		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(6694-6696)CTG>CTC		human immunodeficiency virus type I enhancer							26.0	33.0	31.0					1																	41976647		2203	4299	6502	SO:0001819	synonymous_variant	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:41976647C>G	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.6696G>C	1.37:g.41976647C>G						HIVEP3_uc001cha.3_Silent_p.L2231L|HIVEP3_uc001cgy.2_RNA	p.L2232L	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			9	7909	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	2232					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	ENST00000372583.1	37	c.6696G>C	CCDS463.1																																																																																				0.692	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		21	37	0	0	0	0	21	37				
TOE1	114034	broad.mit.edu	37	1	45809091	45809091	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:45809091G>T	ENST00000372090.5	+	8	1833	c.1250G>T	c.(1249-1251)aGa>aTa	p.R417I	MUTYH_ENST00000529984.1_5'Flank|MUTYH_ENST00000528332.2_5'Flank|MUTYH_ENST00000450313.1_5'Flank|TOE1_ENST00000539779.1_Missense_Mutation_p.R337I|TESK2_ENST00000486676.1_5'Flank|MUTYH_ENST00000372115.3_5'Flank|TOE1_ENST00000495703.1_3'UTR	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	417						nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					ATAGCTGATAGAGCTACCTCA	0.517																																						uc009vxq.2		NA																	0				central_nervous_system(1)	1						c.(1249-1251)AGA>ATA		target of EGR1, member 1 (nuclear)							76.0	74.0	75.0					1																	45809091		2203	4300	6503	SO:0001583	missense	114034					nuclear speck|nucleolus	nucleic acid binding|zinc ion binding	g.chr1:45809091G>T		CCDS521.1	1p33	2011-02-03			ENSG00000132773	ENSG00000132773			15954	protein-coding gene	gene with protein product		613931				12562764	Standard	NM_025077		Approved		uc009vxq.3	Q96GM8	OTTHUMG00000007678	ENST00000372090.5:c.1250G>T	1.37:g.45809091G>T	ENSP00000361162:p.Arg417Ile					MUTYH_uc001cno.2_5'Flank|MUTYH_uc001cnk.2_5'Flank|MUTYH_uc010oll.1_5'Flank|MUTYH_uc001cnm.2_5'Flank|MUTYH_uc001cnl.2_5'Flank|MUTYH_uc009vxp.2_5'Flank|MUTYH_uc001cnn.2_5'Flank|TOE1_uc001cnq.3_RNA|TOE1_uc010olm.1_Missense_Mutation_p.R337I|TOE1_uc001cnr.3_RNA	p.R417I	NM_025077	NP_079353	Q96GM8	TOE1_HUMAN			8	1833	+	Acute lymphoblastic leukemia(166;0.155)		417					B4DEM6|Q6IA35|Q8IWN5|Q9H846	Missense_Mutation	SNP	ENST00000372090.5	37	c.1250G>T	CCDS521.1	.	.	.	.	.	.	.	.	.	.	G	2.721	-0.266620	0.05754	.	.	ENSG00000132773	ENST00000372090;ENST00000539779	T;T	0.31247	1.51;1.5	5.26	-0.966	0.10320	.	1.611300	0.02744	N	0.116609	T	0.16257	0.0391	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.001	T	0.20306	-1.0279	10	0.41790	T	0.15	2.1426	5.0717	0.14609	0.0:0.3754:0.3398:0.2847	.	337;417	B4DEM6;Q96GM8	.;TOE1_HUMAN	I	417;337	ENSP00000361162:R417I;ENSP00000438900:R337I	ENSP00000361162:R417I	R	+	2	0	TOE1	45581678	0.000000	0.05858	0.000000	0.03702	0.271000	0.26615	-0.518000	0.06267	-0.067000	0.12976	-1.115000	0.02055	AGA		0.517	TOE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020517.1	NM_025077		40	35	1	0	5.72e-15	6.19e-15	40	35				
CYP4A11	1579	broad.mit.edu	37	1	47401219	47401219	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:47401219T>G	ENST00000310638.4	-	5	642	c.611A>C	c.(610-612)cAt>cCt	p.H204P	CYP4A11_ENST00000371905.1_Missense_Mutation_p.H204P|CYP4A11_ENST00000371904.4_Missense_Mutation_p.H204P|CYP4A11_ENST00000457840.2_Missense_Mutation_p.H100P|CYP4A11_ENST00000462347.1_Missense_Mutation_p.H204P|CYP4A11_ENST00000496519.1_5'Flank	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	204					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)	GCTGCCCTGATGGCTGAAGGC	0.572																																						uc001cqp.3		NA																	0				ovary(2)|skin(2)	4						c.(610-612)CAT>CCT		cytochrome P450, family 4, subfamily A,	NADH(DB00157)						117.0	99.0	105.0					1																	47401219		2202	4298	6500	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.chr1:47401219T>G	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.611A>C	1.37:g.47401219T>G	ENSP00000311095:p.His204Pro					CYP4A11_uc001cqq.2_Missense_Mutation_p.H204P|CYP4A11_uc010omm.1_RNA	p.H204P	NM_000778	NP_000769	Q02928	CP4AB_HUMAN			5	662	-			204					Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	c.611A>C	CCDS543.1	.	.	.	.	.	.	.	.	.	.	N	19.49	3.838320	0.71373	.	.	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905;ENST00000457840	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	5.1	5.1	0.69264	.	0.988161	0.08283	N	0.969623	T	0.67011	0.2848	M	0.67700	2.07	0.09310	N	1	B	0.10296	0.003	B	0.18263	0.021	T	0.56842	-0.7912	10	0.49607	T	0.09	.	10.7545	0.46228	0.2075:0.0:0.0:0.7925	.	204	Q02928	CP4AB_HUMAN	P	204;204;204;100	ENSP00000311095:H204P;ENSP00000360971:H204P;ENSP00000360972:H204P;ENSP00000406272:H100P	ENSP00000311095:H204P	H	-	2	0	CYP4A11	47173806	0.000000	0.05858	0.469000	0.27204	0.868000	0.49771	0.503000	0.22610	2.062000	0.61559	0.524000	0.50904	CAT		0.572	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		17	59	0	0	0	0	17	59				
FOXD2	2306	broad.mit.edu	37	1	47904276	47904276	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:47904276A>G	ENST00000334793.5	+	1	2588	c.469A>G	c.(469-471)Atc>Gtc	p.I157V		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	157					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		CTGCGAGTTCATCAGCGGCCG	0.617																																						uc001crm.2		NA																	0					0						c.(469-471)ATC>GTC		forkhead box D2							47.0	57.0	54.0					1																	47904276		2203	4300	6503	SO:0001583	missense	2306				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr1:47904276A>G	AF042832	CCDS30708.1	1p34-p32	2008-02-05			ENSG00000186564	ENSG00000186564		"""Forkhead boxes"""	3803	protein-coding gene	gene with protein product		602211		FKHL17		9403061, 12621056	Standard	NM_004474		Approved	FREAC9	uc001crm.3	O60548	OTTHUMG00000007950	ENST00000334793.5:c.469A>G	1.37:g.47904276A>G	ENSP00000335493:p.Ile157Val						p.I157V	NM_004474	NP_004465	O60548	FOXD2_HUMAN		READ - Rectum adenocarcinoma(2;0.0908)	1	2588	+			157			Fork-head.		Q5SVZ3	Missense_Mutation	SNP	ENST00000334793.5	37	c.469A>G	CCDS30708.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.101028	0.76983	.	.	ENSG00000186564	ENST00000334793	D	0.96745	-4.11	4.19	4.19	0.49359	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	U	0.000000	D	0.98102	0.9374	M	0.88512	2.96	0.58432	D	0.999997	D	0.67145	0.996	D	0.91635	0.999	D	0.98786	1.0734	10	0.87932	D	0	.	12.2367	0.54520	1.0:0.0:0.0:0.0	.	157	O60548	FOXD2_HUMAN	V	157	ENSP00000335493:I157V	ENSP00000335493:I157V	I	+	1	0	FOXD2	47676863	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.617000	0.90927	1.517000	0.48917	0.352000	0.21897	ATC		0.617	FOXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021831.1	NM_004474		21	45	0	0	0	0	21	45				
ZFYVE9	9372	broad.mit.edu	37	1	52810452	52810452	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:52810452G>A	ENST00000371591.1	+	17	4083	c.3952G>A	c.(3952-3954)Gaa>Aaa	p.E1318K	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.E1259K|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.E1318K	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1318					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GTTTTTCCTAGAAAACGATGA	0.433																																						uc001cto.2		NA																	0				ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						c.(3952-3954)GAA>AAA		zinc finger, FYVE domain containing 9 isoform 3							104.0	88.0	94.0					1																	52810452		2203	4300	6503	SO:0001583	missense	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52810452G>A	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.3952G>A	1.37:g.52810452G>A	ENSP00000360647:p.Glu1318Lys					ZFYVE9_uc001ctp.2_Missense_Mutation_p.E1259K	p.E1318K	NM_004799	NP_004790	O95405	ZFYV9_HUMAN			18	4124	+			1318					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	c.3952G>A	CCDS563.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.574979	0.45902	.	.	ENSG00000157077	ENST00000357206;ENST00000287727;ENST00000371591	T;T;T	0.37584	1.23;1.19;1.19	5.16	5.16	0.70880	Domain of unknown function DUF3480 (1);	0.312072	0.37348	N	0.002127	T	0.14917	0.0360	N	0.00729	-1.24	0.37343	D	0.910467	P;B	0.48294	0.908;0.372	B;B	0.40677	0.337;0.309	T	0.41431	-0.9509	10	0.38643	T	0.18	.	18.4472	0.90688	0.0:0.0:1.0:0.0	.	1259;1318	O95405-2;O95405	.;ZFYV9_HUMAN	K	1259;1318;1318	ENSP00000349737:E1259K;ENSP00000287727:E1318K;ENSP00000360647:E1318K	ENSP00000287727:E1318K	E	+	1	0	ZFYVE9	52583040	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	6.758000	0.74929	2.676000	0.91093	0.655000	0.94253	GAA		0.433	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		20	49	0	0	0	0	20	49				
ZYG11B	79699	broad.mit.edu	37	1	53262010	53262010	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:53262010G>C	ENST00000294353.6	+	7	1526	c.1381G>C	c.(1381-1383)Gat>Cat	p.D461H	ZYG11B_ENST00000443756.2_Missense_Mutation_p.D461H|ZYG11B_ENST00000545132.1_Missense_Mutation_p.D461H	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	461										breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						CAACCATGAGGATCAAAACAT	0.433																																						uc001cuj.2		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(1381-1383)GAT>CAT		zyg-11 homolog B							92.0	87.0	89.0					1																	53262010		2203	4300	6503	SO:0001583	missense	79699						protein binding	g.chr1:53262010G>C	AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"""ZYG11 cell cycle regulator family"""	25820	protein-coding gene	gene with protein product			"""zyg-11 homolog (C. elegans)"", ""zyg-11 homolog B (C. elegans)"""	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.1381G>C	1.37:g.53262010G>C	ENSP00000294353:p.Asp461His					ZYG11B_uc009vzg.2_RNA|ZYG11B_uc010onj.1_Missense_Mutation_p.D452H|ZYG11B_uc009vzh.2_5'Flank	p.D461H	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN			7	1576	+			461					Q8N2X3|Q9H8L8	Missense_Mutation	SNP	ENST00000294353.6	37	c.1381G>C	CCDS30717.1	.	.	.	.	.	.	.	.	.	.	G	31	5.089686	0.94149	.	.	ENSG00000162378	ENST00000443756;ENST00000545132;ENST00000294353	T;T;T	0.69926	0.36;-0.44;0.36	5.19	5.19	0.71726	Armadillo-like helical (1);Armadillo-type fold (1);	0.097258	0.64402	D	0.000002	T	0.81786	0.4896	M	0.76170	2.325	0.80722	D	1	D;P	0.89917	1.0;0.942	D;P	0.72338	0.977;0.83	T	0.82504	-0.0424	10	0.49607	T	0.09	.	18.724	0.91705	0.0:0.0:1.0:0.0	.	461;461	B4DK95;Q9C0D3	.;ZY11B_HUMAN	H	461	ENSP00000400522:D461H;ENSP00000441315:D461H;ENSP00000294353:D461H	ENSP00000294353:D461H	D	+	1	0	ZYG11B	53034598	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.660000	0.68018	2.428000	0.82296	0.563000	0.77884	GAT		0.433	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1	NM_024646		11	35	0	0	0	0	11	35				
PTGER3	5733	broad.mit.edu	37	1	71478156	71478156	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:71478156C>G	ENST00000306666.5	-	2	1119	c.909G>C	c.(907-909)ttG>ttC	p.L303F	PTGER3_ENST00000370931.3_Missense_Mutation_p.L303F|PTGER3_ENST00000351052.5_Missense_Mutation_p.L303F|PTGER3_ENST00000370932.2_Missense_Mutation_p.L303F|PTGER3_ENST00000414819.1_Missense_Mutation_p.L303F|PTGER3_ENST00000354608.5_Missense_Mutation_p.L303F|PTGER3_ENST00000356595.4_Missense_Mutation_p.L303F|PTGER3_ENST00000460330.1_Missense_Mutation_p.L303F|PTGER3_ENST00000370924.4_Missense_Mutation_p.L303F	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	303					cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	AGATCATTTTCAACATCATTA	0.383																																						uc001dfg.1		NA																	0				pancreas(1)|lung(1)|skin(1)	3						c.(907-909)TTG>TTC		prostaglandin E receptor 3, subtype EP3 isoform	Bimatoprost(DB00905)						91.0	87.0	88.0					1																	71478156		2203	4300	6503	SO:0001583	missense	5733				cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity	g.chr1:71478156C>G	X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"""GPCR / Class A : Prostanoid receptors"""	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000306666.5:c.909G>C	1.37:g.71478156C>G	ENSP00000302313:p.Leu303Phe					PTGER3_uc001dfh.1_RNA|PTGER3_uc001dfi.1_RNA|PTGER3_uc001dfj.1_RNA|PTGER3_uc001dfk.1_Missense_Mutation_p.L303F|PTGER3_uc001dfl.1_Missense_Mutation_p.L303F|PTGER3_uc009wbm.1_Missense_Mutation_p.L303F|PTGER3_uc001dfm.1_RNA|PTGER3_uc001dfn.2_Missense_Mutation_p.L303F|PTGER3_uc009wbn.1_Missense_Mutation_p.L303F|PTGER3_uc009wbo.2_Missense_Mutation_p.L303F|PTGER3_uc001dfo.2_Missense_Mutation_p.L303F|PTGER3_uc001dfp.1_Missense_Mutation_p.L303F|PTGER3_uc001dfq.2_Missense_Mutation_p.L303F	p.L303F	NM_198714	NP_942007	P43115	PE2R3_HUMAN			2	1140	-			303			Helical; Name=6; (Potential).		B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Missense_Mutation	SNP	ENST00000306666.5	37	c.909G>C	CCDS657.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.110650	0.56398	.	.	ENSG00000050628	ENST00000370931;ENST00000370932;ENST00000351052;ENST00000460330;ENST00000370934;ENST00000354608;ENST00000356595;ENST00000414819;ENST00000306666;ENST00000370924	T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.64	3.74	0.42951	GPCR, rhodopsin-like superfamily (1);	0.169038	0.39834	N	0.001255	T	0.44582	0.1300	L	0.60455	1.87	0.54753	D	0.999987	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.87578	0.968;0.998;0.997;0.998;0.978;0.996;0.996;0.998	T	0.34428	-0.9829	10	0.20046	T	0.44	-24.8681	12.2037	0.54340	0.0:0.8573:0.0:0.1427	.	303;303;303;303;303;303;303;303	Q147U0;Q6TTN3;F5H821;B1AK19;Q147X8;P43115-3;P43115-4;P43115	.;.;.;.;.;.;.;PE2R3_HUMAN	F	303	ENSP00000359969:L303F;ENSP00000359970:L303F;ENSP00000280208:L303F;ENSP00000418073:L303F;ENSP00000346624:L303F;ENSP00000349003:L303F;ENSP00000401423:L303F;ENSP00000302313:L303F;ENSP00000359962:L303F	ENSP00000302313:L303F	L	-	3	2	PTGER3	71250744	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	2.894000	0.48640	1.379000	0.46325	0.484000	0.47621	TTG		0.383	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026076.1	NM_000957		14	35	0	0	0	0	14	35				
CRYZ	1429	broad.mit.edu	37	1	75188946	75188946	+	Silent	SNP	G	G	A	rs146208357	byFrequency	TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:75188946G>A	ENST00000340866.5	-	3	207	c.120C>T	c.(118-120)atC>atT	p.I40I	CRYZ_ENST00000370871.3_Silent_p.I40I|CRYZ_ENST00000370872.3_5'UTR|CRYZ_ENST00000417775.1_Silent_p.I40I	NM_001889.3	NP_001880.2	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)	40					protein homotetramerization (GO:0051289)|visual perception (GO:0007601)|xenobiotic catabolic process (GO:0042178)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	mRNA 3'-UTR binding (GO:0003730)|NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicoumarol(DB00266)	CATGGACCTTGATTAGAACCT	0.408																																						uc001dgk.2		NA																	0					0						c.(118-120)ATC>ATT		crystallin, zeta isoform a	Dicumarol(DB00266)						155.0	140.0	145.0					1																	75188946		2203	4300	6503	SO:0001819	synonymous_variant	1429				protein homotetramerization|visual perception|xenobiotic catabolic process	cytosol|Golgi apparatus	mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding	g.chr1:75188946G>A		CCDS665.1, CCDS44162.1, CCDS44163.1	1p31.1	2013-02-14			ENSG00000116791	ENSG00000116791			2419	protein-coding gene	gene with protein product		123691					Standard	NM_001889		Approved		uc001dgj.3	Q08257	OTTHUMG00000009620	ENST00000340866.5:c.120C>T	1.37:g.75188946G>A						CRYZ_uc001dgj.2_Silent_p.I40I|CRYZ_uc001dgl.2_Silent_p.I40I|CRYZ_uc001dgm.2_5'UTR	p.I40I	NM_001130042	NP_001123514	Q08257	QOR_HUMAN			4	625	-			40					A6NN60|D3DQ76|Q53FT0|Q59EU7|Q5HYE7|Q6NSK9	Silent	SNP	ENST00000340866.5	37	c.120C>T	CCDS665.1																																																																																				0.408	CRYZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026514.1			27	67	0	0	0	0	27	67				
MCOLN2	255231	broad.mit.edu	37	1	85403762	85403762	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:85403762G>C	ENST00000370608.3	-	10	1181	c.1114C>G	c.(1114-1116)Ctc>Gtc	p.L372V	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.L344V	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	372					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		TAGTTTGTGAGATTCTAAGGA	0.338																																						uc001dkm.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(1114-1116)CTC>GTC		mucolipin 2							47.0	50.0	49.0					1																	85403762		2203	4300	6503	SO:0001583	missense	255231					integral to membrane	ion channel activity	g.chr1:85403762G>C	AK094010	CCDS30762.1	1p22	2011-12-16			ENSG00000153898	ENSG00000153898		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13357	protein-coding gene	gene with protein product		607399				16382100	Standard	XM_005270719		Approved	TRPML2, FLJ36691, TRP-ML2	uc001dkm.3	Q8IZK6	OTTHUMG00000009954	ENST00000370608.3:c.1114C>G	1.37:g.85403762G>C	ENSP00000359640:p.Leu372Val					MCOLN2_uc001dkn.2_RNA	p.L372V	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN		all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)	10	1355	-			372					A6NI99|Q2M3I6|Q5TAG5|Q8N9R3	Missense_Mutation	SNP	ENST00000370608.3	37	c.1114C>G	CCDS30762.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016192	0.54468	.	.	ENSG00000153898	ENST00000370608;ENST00000284027	D;D	0.84944	-1.92;-1.91	6.07	5.15	0.70609	.	0.171598	0.52532	D	0.000062	T	0.71634	0.3363	L	0.33245	0.995	0.80722	D	1	B	0.25441	0.126	B	0.31614	0.133	T	0.69483	-0.5133	10	0.30078	T	0.28	-32.5807	16.7645	0.85521	0.0:0.0:0.8698:0.1302	.	372	Q8IZK6	MCLN2_HUMAN	V	372;344	ENSP00000359640:L372V;ENSP00000284027:L344V	ENSP00000284027:L344V	L	-	1	0	MCOLN2	85176350	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.120000	0.64685	1.550000	0.49438	0.650000	0.86243	CTC		0.338	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027567.2	NM_153259		23	26	0	0	0	0	23	26				
HFM1	164045	broad.mit.edu	37	1	91813030	91813030	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:91813030A>G	ENST00000370425.3	-	19	2308	c.2210T>C	c.(2209-2211)tTt>tCt	p.F737S	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.F416S|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	737					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TCCAGATGCAAAACCTGCATG	0.303																																						uc001doa.3		NA																	0					0						c.(2209-2211)TTT>TCT		HFM1 protein							59.0	56.0	57.0					1																	91813030		1815	4067	5882	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91813030A>G	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2210T>C	1.37:g.91813030A>G	ENSP00000359454:p.Phe737Ser					HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.F416S|HFM1_uc001dob.3_5'UTR|HFM1_uc010osv.1_Missense_Mutation_p.F421S	p.F737S	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	19	2310	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	737					B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.2210T>C	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	A	24.7	4.560822	0.86335	.	.	ENSG00000162669	ENST00000370425;ENST00000370424;ENST00000370421	T;T	0.64085	0.28;-0.08	5.26	5.26	0.73747	.	0.221905	0.18886	U	0.128438	T	0.62282	0.2415	L	0.41415	1.275	0.80722	D	1	D;D	0.65815	0.995;0.964	D;P	0.62955	0.909;0.628	T	0.67929	-0.5543	10	0.87932	D	0	.	13.7345	0.62809	1.0:0.0:0.0:0.0	.	416;737	A6NGI5;A2PYH4	.;HFM1_HUMAN	S	737;416;421	ENSP00000359454:F737S;ENSP00000359453:F416S	ENSP00000359450:F421S	F	-	2	0	HFM1	91585618	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	8.957000	0.93082	1.968000	0.57251	0.482000	0.46254	TTT		0.303	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		8	36	0	0	0	0	8	36				
EPHX4	253152	broad.mit.edu	37	1	92495681	92495681	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:92495681C>T	ENST00000370383.4	+	1	143	c.45C>T	c.(43-45)ctC>ctT	p.L15L		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	15						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGCTCACGCTCCGGTCCCTGC	0.701																																					GBM(140;473 1857 5172 22066 49719)	uc001don.2		NA																	0				central_nervous_system(1)	1						c.(43-45)CTC>CTT		abhydrolase domain containing 7							33.0	22.0	26.0					1																	92495681		2202	4299	6501	SO:0001819	synonymous_variant	253152					integral to membrane	hydrolase activity	g.chr1:92495681C>T	AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.45C>T	1.37:g.92495681C>T							p.L15L	NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN			1	149	+			15					Q8NCC6	Silent	SNP	ENST00000370383.4	37	c.45C>T	CCDS736.1																																																																																				0.701	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	NM_173567		7	18	0	0	0	0	7	18				
ARHGAP29	9411	broad.mit.edu	37	1	94643210	94643210	+	Missense_Mutation	SNP	G	G	A	rs141790636		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:94643210G>A	ENST00000260526.6	-	22	3045	c.2863C>T	c.(2863-2865)Cgc>Tgc	p.R955C	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	955					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTTTGCTTGCGTTCTGATTCC	0.343																																						uc001dqj.3		NA																	0				breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11						c.(2863-2865)CGC>TGC		PTPL1-associated RhoGAP 1		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	132.0	125.0	127.0		2863	1.3	1.0	1	dbSNP_134	127	0,8600		0,0,4300	no	missense	ARHGAP29	NM_004815.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	955/1262	94643210	1,13005	2203	4300	6503	SO:0001583	missense	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94643210G>A		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.2863C>T	1.37:g.94643210G>A	ENSP00000260526:p.Arg955Cys					ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dqk.2_Missense_Mutation_p.R521C	p.R955C	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	22	3232	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	955					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	37	c.2863C>T	CCDS748.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898668	0.52227	2.27E-4	0.0	ENSG00000137962	ENST00000260526	T	0.23754	1.89	5.55	1.3	0.21679	.	0.444587	0.16838	N	0.197455	T	0.09202	0.0227	L	0.36672	1.1	0.09310	N	1	B;D	0.65815	0.007;0.995	B;P	0.46452	0.003;0.517	T	0.10474	-1.0628	10	0.56958	D	0.05	0.002	4.2467	0.10675	0.0745:0.1882:0.4386:0.2988	.	955;955	F8VWZ8;Q52LW3	.;RHG29_HUMAN	C	955	ENSP00000260526:R955C	ENSP00000260526:R955C	R	-	1	0	ARHGAP29	94415798	0.104000	0.21937	0.965000	0.40720	0.976000	0.68499	0.660000	0.25009	0.797000	0.33971	0.655000	0.94253	CGC		0.343	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		19	56	0	0	0	0	19	56				
MAB21L3	126868	broad.mit.edu	37	1	116666715	116666715	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:116666715C>A	ENST00000369500.3	+	4	483	c.218C>A	c.(217-219)aCa>aAa	p.T73K	MAB21L3_ENST00000464946.1_3'UTR	NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN	mab-21-like 3 (C. elegans)	73										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						TTCCTCGTCACAGTCCCAATA	0.577																																						uc001egc.1		NA																	0					0						c.(217-219)ACA>AAA		hypothetical protein LOC126868							63.0	66.0	65.0					1																	116666715		2203	4300	6503	SO:0001583	missense	126868							g.chr1:116666715C>A	AK096035	CCDS886.1	1p13.1	2011-02-23	2011-02-23	2011-02-23	ENSG00000173212	ENSG00000173212			26787	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 161"""	C1orf161		14702039	Standard	NM_152367		Approved	FLJ38716	uc001egc.1	Q8N8X9	OTTHUMG00000012110	ENST00000369500.3:c.218C>A	1.37:g.116666715C>A	ENSP00000358512:p.Thr73Lys						p.T73K	NM_152367	NP_689580	Q8N8X9	MB213_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	4	483	+	Lung SC(450;0.184)	all_cancers(81;0.00142)|all_lung(203;0.000139)|all_epithelial(167;0.000401)|Lung NSC(69;0.000705)	73					Q5TDL7	Missense_Mutation	SNP	ENST00000369500.3	37	c.218C>A	CCDS886.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.503542	0.64298	.	.	ENSG00000173212	ENST00000369500	T	0.08282	3.11	5.43	5.43	0.79202	.	0.091343	0.47852	D	0.000213	T	0.17746	0.0426	M	0.75447	2.3	0.48452	D	0.999652	D	0.71674	0.998	D	0.66847	0.947	T	0.04178	-1.0971	10	0.20046	T	0.44	-14.0348	17.4199	0.87512	0.0:1.0:0.0:0.0	.	73	Q8N8X9	MB213_HUMAN	K	73	ENSP00000358512:T73K	ENSP00000358512:T73K	T	+	2	0	MAB21L3	116468238	0.994000	0.37717	0.903000	0.35520	0.235000	0.25334	3.284000	0.51708	2.552000	0.86080	0.650000	0.86243	ACA		0.577	MAB21L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033486.1	NM_152367		24	65	1	0	2.45e-14	2.64e-14	24	65				
HAO2	51179	broad.mit.edu	37	1	119927521	119927521	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:119927521C>T	ENST00000325945.3	+	4	479	c.406C>T	c.(406-408)Cag>Tag	p.Q136*	HAO2_ENST00000361035.4_Nonsense_Mutation_p.Q149*	NM_001005783.1|NM_016527.2	NP_001005783.1|NP_057611.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	136	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				fatty acid oxidation (GO:0019395)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		TCCAGACCTGCAGCTGAACAA	0.478																																						uc001ehq.1		NA																	0				ovary(2)|skin(2)	4						c.(406-408)CAG>TAG		hydroxyacid oxidase 2							123.0	117.0	119.0					1																	119927521		2203	4300	6503	SO:0001587	stop_gained	51179				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity	g.chr1:119927521C>T	AF231917	CCDS901.1	1p13.3-p13.1	2008-07-18			ENSG00000116882	ENSG00000116882	1.1.3.15		4810	protein-coding gene	gene with protein product	"""(S)-2-hydroxy-acid oxidase"", ""glycolate oxidase"", ""long-chain L-2-hydroxy acid oxidase"", ""growth-inhibiting protein 16"""	605176				10777549	Standard	XM_005270913		Approved	HAOX2, GIG16	uc001ehr.1	Q9NYQ3	OTTHUMG00000012410	ENST00000325945.3:c.406C>T	1.37:g.119927521C>T	ENSP00000316339:p.Gln136*					HAO2_uc001ehr.1_Nonsense_Mutation_p.Q136*	p.Q136*	NM_001005783	NP_001005783	Q9NYQ3	HAOX2_HUMAN		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)	5	758	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	136			FMN hydroxy acid dehydrogenase.		Q2TU86|Q5QP00|Q9UJS6	Nonsense_Mutation	SNP	ENST00000325945.3	37	c.406C>T	CCDS901.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.845562	0.51164	.	.	ENSG00000116882	ENST00000457318;ENST00000361035;ENST00000325945	.	.	.	5.55	3.61	0.41365	.	0.454192	0.24424	N	0.038660	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.2816	8.686	0.34238	0.2447:0.405:0.3503:0.0	.	.	.	.	X	111;149;136	.	.	Q	+	1	0	HAO2	119729044	1.000000	0.71417	0.031000	0.17742	0.245000	0.25701	1.304000	0.33482	0.836000	0.34901	0.591000	0.81541	CAG		0.478	HAO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034984.1	NM_001005783		23	59	0	0	0	0	23	59				
VPS45	11311	broad.mit.edu	37	1	150054908	150054908	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:150054908G>A	ENST00000369130.3	+	10	1591	c.1045G>A	c.(1045-1047)Gag>Aag	p.E349K	VPS45_ENST00000369128.5_Missense_Mutation_p.E244K|VPS45_ENST00000535106.1_Missense_Mutation_p.E280K	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	349					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|vesicle docking involved in exocytosis (GO:0006904)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAATCTGCTGGAGGTTTCAGA	0.453																																						uc001etp.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1045-1047)GAG>AAG		vacuolar protein sorting 45A							123.0	120.0	121.0					1																	150054908		2203	4300	6503	SO:0001583	missense	11311				blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction		g.chr1:150054908G>A	U35246	CCDS944.1, CCDS60244.1, CCDS72904.1	1q21.2	2008-02-05	2006-12-19	2006-12-19	ENSG00000136631	ENSG00000136631			14579	protein-coding gene	gene with protein product		610035	"""vacuolar protein sorting 45A (yeast homolog)"", ""vacuolar protein sorting 45A (yeast)"""	VPS45B, VPS45A		8996080	Standard	NM_007259		Approved	h-vps45, H1	uc001etp.3	Q9NRW7	OTTHUMG00000012511	ENST00000369130.3:c.1045G>A	1.37:g.150054908G>A	ENSP00000358126:p.Glu349Lys					VPS45_uc010pbp.1_RNA|VPS45_uc010pbq.1_Missense_Mutation_p.E313K|VPS45_uc010pbs.1_Missense_Mutation_p.E244K|VPS45_uc001etq.2_Missense_Mutation_p.E169K|VPS45_uc009wlm.1_Missense_Mutation_p.E325K	p.E349K	NM_007259	NP_009190	Q9NRW7	VPS45_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		10	1618	+	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		349					D3DUZ9|F5H8K1|Q15715|Q53FR8|Q5T4P6|Q9Y4Z6	Missense_Mutation	SNP	ENST00000369130.3	37	c.1045G>A	CCDS944.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380861	0.82792	.	.	ENSG00000136631	ENST00000369130;ENST00000369128;ENST00000543996;ENST00000535106;ENST00000419023	T;T;T;T	0.80033	1.6;-1.33;1.6;1.6	5.9	5.9	0.94986	.	0.044830	0.85682	D	0.000000	D	0.84768	0.5545	M	0.84948	2.725	0.80722	D	1	P;B;P;B	0.45428	0.858;0.132;0.62;0.132	P;B;B;B	0.47915	0.561;0.101;0.3;0.145	D	0.86671	0.1910	10	0.66056	D	0.02	.	19.2671	0.93993	0.0:0.0:1.0:0.0	.	244;349;169;349	F5H8K1;Q53FR8;A0AR27;Q9NRW7	.;.;.;VPS45_HUMAN	K	349;244;224;280;280	ENSP00000358126:E349K;ENSP00000358124:E244K;ENSP00000440690:E280K;ENSP00000400143:E280K	ENSP00000358124:E244K	E	+	1	0	VPS45	148321532	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.844000	0.86867	2.788000	0.95919	0.650000	0.86243	GAG		0.453	VPS45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034964.1	NM_007259		18	34	0	0	0	0	18	34				
SETDB1	9869	broad.mit.edu	37	1	150915471	150915471	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:150915471C>G	ENST00000271640.5	+	7	1007	c.817C>G	c.(817-819)Cag>Gag	p.Q273E	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Missense_Mutation_p.Q273E|SETDB1_ENST00000368962.2_Missense_Mutation_p.Q273E|SETDB1_ENST00000368963.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	273	Tudor 1.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGATGGGAATCAGGTCTGGCT	0.517																																						uc001evu.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(817-819)CAG>GAG		SET domain, bifurcated 1 isoform 1							152.0	141.0	145.0					1																	150915471		2203	4300	6503	SO:0001583	missense	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150915471C>G	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.817C>G	1.37:g.150915471C>G	ENSP00000271640:p.Gln273Glu					SETDB1_uc009wmf.2_Missense_Mutation_p.Q273E|SETDB1_uc001evv.2_Missense_Mutation_p.Q273E|SETDB1_uc001evw.3_Missense_Mutation_p.Q273E|SETDB1_uc009wmg.1_Missense_Mutation_p.Q273E	p.Q273E	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		7	1007	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		273			Tudor 1.		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	c.817C>G	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.989382	0.53934	.	.	ENSG00000143379	ENST00000271640;ENST00000368962;ENST00000534805;ENST00000368969;ENST00000498193;ENST00000413562	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	5.57	5.57	0.84162	Tudor domain (1);	0.056069	0.64402	D	0.000001	T	0.25269	0.0614	L	0.48642	1.525	0.80722	D	1	P;P;P;P;P	0.51537	0.91;0.6;0.852;0.946;0.91	B;B;B;B;B	0.39904	0.166;0.112;0.235;0.313;0.166	T	0.03829	-1.1000	10	0.17369	T	0.5	.	19.7494	0.96261	0.0:1.0:0.0:0.0	.	273;273;273;273;273	E9PRF4;E9PQM8;Q15047-2;Q15047-3;Q15047	.;.;.;.;SETB1_HUMAN	E	273;273;273;273;273;116	ENSP00000271640:Q273E;ENSP00000357958:Q273E;ENSP00000436148:Q273E;ENSP00000357965:Q273E;ENSP00000432348:Q273E	ENSP00000271640:Q273E	Q	+	1	0	SETDB1	149182095	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.606000	0.61126	2.902000	0.99343	0.650000	0.86243	CAG		0.517	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			24	75	0	0	0	0	24	75				
CGN	57530	broad.mit.edu	37	1	151505015	151505015	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:151505015G>C	ENST00000271636.7	+	14	2842	c.2709G>C	c.(2707-2709)aaG>aaC	p.K903N		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	897					transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGGCTGAGAAGACCTCTGGAG	0.522																																						uc009wmw.2		NA																	0				ovary(2)|pancreas(1)	3						c.(2707-2709)AAG>AAC		cingulin							30.0	34.0	32.0					1																	151505015		2203	4300	6503	SO:0001583	missense	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151505015G>C	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.2709G>C	1.37:g.151505015G>C	ENSP00000271636:p.Lys903Asn					CGN_uc010pde.1_5'Flank	p.K903N	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		14	2853	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		897			Potential.		A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	37	c.2709G>C	CCDS999.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.182945	0.57800	.	.	ENSG00000143375	ENST00000271636	T	0.77750	-1.12	5.24	4.34	0.51931	Myosin tail (1);	0.091515	0.85682	D	0.000000	T	0.79381	0.4436	L	0.58810	1.83	0.37872	D	0.930101	D	0.89917	1.0	D	0.77004	0.989	T	0.81792	-0.0770	10	0.59425	D	0.04	-45.3615	9.2437	0.37511	0.1641:0.0:0.8359:0.0	.	897	Q9P2M7	CING_HUMAN	N	903	ENSP00000271636:K903N	ENSP00000271636:K903N	K	+	3	2	CGN	149771639	0.993000	0.37304	0.999000	0.59377	0.838000	0.47535	2.236000	0.43052	1.465000	0.48006	-0.143000	0.13931	AAG		0.522	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		7	36	0	0	0	0	7	36				
FLG	2312	broad.mit.edu	37	1	152280813	152280813	+	Missense_Mutation	SNP	C	C	G	rs375300227		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:152280813C>G	ENST00000368799.1	-	3	6584	c.6549G>C	c.(6547-6549)caG>caC	p.Q2183H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2183	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.Q2183H(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGATCCTGACTGCCCACGGG	0.537									Ichthyosis																													uc001ezu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(6547-6549)CAG>CAC		filaggrin		C	HIS/GLN	0,4406		0,0,2203	457.0	390.0	413.0		6549	-5.2	0.0	1		413	1,8599	1.2+/-3.3	0,1,4299	no	missense	FLG	NM_002016.1	24	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	benign	2183/4062	152280813	1,13005	2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152280813C>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6549G>C	1.37:g.152280813C>G	ENSP00000357789:p.Gln2183His						p.Q2183H	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6585	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2183			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.6549G>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	c	1.109	-0.658797	0.03454	0.0	1.16E-4	ENSG00000143631	ENST00000368799	T	0.03524	3.9	2.62	-5.24	0.02789	.	.	.	.	.	T	0.00754	0.0025	L	0.41236	1.265	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45071	-0.9286	9	0.41790	T	0.15	.	1.4515	0.02376	0.1393:0.3154:0.3153:0.2301	.	2183	P20930	FILA_HUMAN	H	2183	ENSP00000357789:Q2183H	ENSP00000357789:Q2183H	Q	-	3	2	FLG	150547437	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-7.150000	0.00043	-2.324000	0.00638	-1.402000	0.01139	CAG		0.537	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		5	361	0	0	0	0	5	361				
FLG2	388698	broad.mit.edu	37	1	152329438	152329438	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:152329438C>T	ENST00000388718.5	-	3	896	c.824G>A	c.(823-825)aGg>aAg	p.R275K	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	275	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGACTTCGCCTCCCACTGTC	0.448																																						uc001ezw.3		NA																	0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(823-825)AGG>AAG		filaggrin family member 2							167.0	150.0	156.0					1																	152329438		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152329438C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.824G>A	1.37:g.152329438C>T	ENSP00000373370:p.Arg275Lys					uc001ezv.2_Intron	p.R275K	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	897	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		275			Ser-rich.|Filaggrin 1.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.824G>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	0.520	-0.862500	0.02610	.	.	ENSG00000143520	ENST00000388718	T	0.00672	5.89	5.9	-1.75	0.08031	.	.	.	.	.	T	0.00241	0.0007	L	0.36672	1.1	0.09310	N	1	B	0.30824	0.296	B	0.22753	0.041	T	0.30031	-0.9992	9	0.28530	T	0.3	-1.0286	5.1869	0.15189	0.1446:0.3782:0.0:0.4771	.	275	Q5D862	FILA2_HUMAN	K	275	ENSP00000373370:R275K	ENSP00000373370:R275K	R	-	2	0	FLG2	150596062	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.564000	0.05936	-0.104000	0.12154	-0.142000	0.14014	AGG		0.448	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		93	26	0	0	0	0	93	26				
CRNN	49860	broad.mit.edu	37	1	152382205	152382205	+	Silent	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:152382205C>G	ENST00000271835.3	-	3	1415	c.1353G>C	c.(1351-1353)gtG>gtC	p.V451V	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	451					response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTGAGGATCACTGTCTCCC	0.577																																						uc001ezx.2		NA																	0				ovary(2)|skin(1)	3						c.(1351-1353)GTG>GTC		cornulin							191.0	146.0	162.0					1																	152382205		2203	4300	6503	SO:0001819	synonymous_variant	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382205C>G	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.1353G>C	1.37:g.152382205C>G							p.V451V	NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1427	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		451					B2RE60|Q8N613	Silent	SNP	ENST00000271835.3	37	c.1353G>C	CCDS1010.1																																																																																				0.577	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		16	56	0	0	0	0	16	56				
S100A7A	338324	broad.mit.edu	37	1	153391671	153391671	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:153391671G>C	ENST00000368729.4	+	3	249	c.192G>C	c.(190-192)aaG>aaC	p.K64N	S100A7A_ENST00000368728.2_Missense_Mutation_p.K64N|S100A7A_ENST00000329256.2_Missense_Mutation_p.K64N	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	64	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein self-association (GO:0043621)			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAAAGGACAAGAATGAGGATA	0.423																																						uc001fbt.1		NA																	0				skin(1)	1						c.(190-192)AAG>AAC		S100 calcium binding protein A7-like 1							103.0	94.0	97.0					1																	153391671		2203	4300	6503	SO:0001583	missense	338324					cytoplasm	calcium ion binding	g.chr1:153391671G>C	AY189118	CCDS30872.1	1q22	2013-01-10	2006-09-11	2006-09-11	ENSG00000184330	ENSG00000184330		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	21657	protein-coding gene	gene with protein product			"""S100 calcium binding protein A15"", ""S100 calcium binding protein A7-like 1"""	S100A15, S100A7L1		11230159	Standard	NM_176823		Approved	S100A7f	uc001fbt.1	Q86SG5	OTTHUMG00000013122	ENST00000368729.4:c.192G>C	1.37:g.153391671G>C	ENSP00000357718:p.Lys64Asn						p.K64N	NM_176823	NP_789793	Q86SG5	S1A7A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	249	+	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		64			2; high affinity (Potential).|EF-hand 2.		D3DV38|Q5SY69	Missense_Mutation	SNP	ENST00000368729.4	37	c.192G>C	CCDS30872.1	.	.	.	.	.	.	.	.	.	.	.	7.582	0.668939	0.14776	.	.	ENSG00000184330	ENST00000368729;ENST00000368728;ENST00000329256	T;T;T	0.08008	3.14;3.14;3.14	1.88	-0.227	0.13102	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	.	.	.	.	T	0.03011	0.0089	M	0.71581	2.175	0.09310	N	1	P	0.50066	0.931	B	0.42798	0.398	T	0.33369	-0.9871	9	0.27082	T	0.32	.	2.3056	0.04173	0.1909:0.0:0.5106:0.2985	.	64	Q86SG5	S1A7A_HUMAN	N	64	ENSP00000357718:K64N;ENSP00000357717:K64N;ENSP00000329008:K64N	ENSP00000329008:K64N	K	+	3	2	S100A7A	151658295	0.003000	0.15002	0.002000	0.10522	0.008000	0.06430	0.017000	0.13399	-0.070000	0.12908	-0.218000	0.12543	AAG		0.423	S100A7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036786.2	NM_176823		24	60	0	0	0	0	24	60				
KCNN3	3782	broad.mit.edu	37	1	154841649	154841649	+	Silent	SNP	T	T	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:154841649T>C	ENST00000271915.4	-	1	1107	c.792A>G	c.(790-792)caA>caG	p.Q264Q	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	269					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	AGCCAATGTTTTGGTTTTTCC	0.512																																						uc001ffp.2		NA																	0				lung(1)	1						c.(790-792)CAA>CAG		small conductance calcium-activated potassium							127.0	118.0	121.0					1																	154841649		2203	4300	6503	SO:0001819	synonymous_variant	3782					integral to membrane	calmodulin binding	g.chr1:154841649T>C	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.792A>G	1.37:g.154841649T>C						KCNN3_uc009wox.1_Silent_p.Q264Q	p.Q264Q	NM_002249	NP_002240	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		1	1106	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		269					B1ANX0|O43517|Q86VF9|Q8WXG7	Silent	SNP	ENST00000271915.4	37	c.792A>G	CCDS30880.1																																																																																				0.512	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		71	21	0	0	0	0	71	21				
FCER1A	2205	broad.mit.edu	37	1	159275900	159275900	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:159275900C>T	ENST00000368115.1	+	5	553	c.454C>T	c.(454-456)Ctc>Ttc	p.L152F	FCER1A_ENST00000368114.1_Missense_Mutation_p.L119F	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	152	Ig-like 2.				activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TGGTGAAGCTCTCAAGTACTG	0.498																																						uc001ftq.2		NA																	0				lung(2)|skin(2)|prostate(1)	5						c.(454-456)CTC>TTC		Fc fragment of IgE, high affinity I, receptor	Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)						181.0	159.0	167.0					1																	159275900		2203	4300	6503	SO:0001583	missense	2205					integral to plasma membrane		g.chr1:159275900C>T	BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.454C>T	1.37:g.159275900C>T	ENSP00000357097:p.Leu152Phe						p.L152F	NM_002001	NP_001992	P12319	FCERA_HUMAN			5	553	+	all_hematologic(112;0.0429)		152			Ig-like 2.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000368115.1	37	c.454C>T	CCDS1184.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.911721	0.33721	.	.	ENSG00000179639	ENST00000368115;ENST00000368114	T;T	0.16457	2.34;2.34	4.78	0.806	0.18708	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.534254	0.17143	N	0.185361	T	0.03827	0.0108	L	0.41492	1.28	0.09310	N	1	P	0.35821	0.523	B	0.34824	0.19	T	0.36261	-0.9755	10	0.37606	T	0.19	.	3.8431	0.08923	0.3856:0.4473:0.0:0.1671	.	152	P12319	FCERA_HUMAN	F	152;119	ENSP00000357097:L152F;ENSP00000357096:L119F	ENSP00000357096:L119F	L	+	1	0	FCER1A	157542524	0.001000	0.12720	0.000000	0.03702	0.649000	0.38597	-0.425000	0.07017	-0.019000	0.14055	0.650000	0.86243	CTC		0.498	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	NM_002001		26	57	0	0	0	0	26	57				
IGSF9	57549	broad.mit.edu	37	1	159906249	159906249	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:159906249T>G	ENST00000368094.1	-	6	810	c.613A>C	c.(613-615)Acc>Ccc	p.T205P	IGSF9_ENST00000493195.1_5'Flank|IGSF9_ENST00000361509.3_Missense_Mutation_p.T205P	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	205	Ig-like 2.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GCTTGGCAGGTGTAGACCCCA	0.657											OREG0013921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001fur.2		NA																	0				ovary(2)|central_nervous_system(2)|large_intestine(1)	5						c.(613-615)ACC>CCC		immunoglobulin superfamily, member 9 isoform a							43.0	43.0	43.0					1																	159906249		2203	4299	6502	SO:0001583	missense	57549					cell junction|integral to membrane|synapse		g.chr1:159906249T>G	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.613A>C	1.37:g.159906249T>G	ENSP00000357073:p.Thr205Pro		OREG0013921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1804	IGSF9_uc001fuq.2_Missense_Mutation_p.T205P	p.T205P	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		6	811	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	205			Ig-like 2.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000368094.1	37	c.613A>C	CCDS44254.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.849474	0.91277	.	.	ENSG00000085552	ENST00000361509;ENST00000368094;ENST00000198587	T;T	0.80566	-1.39;-1.39	5.19	5.19	0.71726	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.346611	0.20826	N	0.084974	D	0.91382	0.7281	H	0.96080	3.765	0.42923	D	0.994293	D;D	0.76494	0.998;0.999	D;D	0.77557	0.958;0.99	D	0.93746	0.7054	9	.	.	.	-6.7339	13.0181	0.58771	0.0:0.0:0.0:1.0	.	205;205	Q9P2J2;C9JI81	TUTLA_HUMAN;.	P	205	ENSP00000355049:T205P;ENSP00000357073:T205P	.	T	-	1	0	IGSF9	158172873	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.373000	0.79623	1.959000	0.56917	0.533000	0.62120	ACC		0.657	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		4	34	0	0	0	0	4	34				
TDRD5	163589	broad.mit.edu	37	1	179603612	179603612	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:179603612G>T	ENST00000367614.1	+	8	1506	c.1147G>T	c.(1147-1149)Gaa>Taa	p.E383*	TDRD5_ENST00000444136.1_Nonsense_Mutation_p.E383*|TDRD5_ENST00000294848.8_Nonsense_Mutation_p.E383*	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	383					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TAAGAAAATAGAAGCCAAAGC	0.383																																						uc001gnf.1		NA																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(1147-1149)GAA>TAA		tudor domain containing 5							108.0	109.0	108.0					1																	179603612		2203	4300	6503	SO:0001587	stop_gained	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179603612G>T	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.1147G>T	1.37:g.179603612G>T	ENSP00000356586:p.Glu383*					TDRD5_uc010pnp.1_Nonsense_Mutation_p.E383*|TDRD5_uc001gnh.1_5'UTR	p.E383*	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN			8	1397	+			383			Lotus/OST-HTH 3.		A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Nonsense_Mutation	SNP	ENST00000367614.1	37	c.1147G>T	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	G	41	8.800400	0.98958	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136	.	.	.	5.24	5.24	0.73138	.	0.787771	0.11891	N	0.519642	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-13.9047	14.6961	0.69124	0.0:0.0:1.0:0.0	.	.	.	.	X	383	.	ENSP00000294848:E383X	E	+	1	0	TDRD5	177870235	1.000000	0.71417	0.988000	0.46212	0.996000	0.88848	4.289000	0.59013	2.607000	0.88179	0.655000	0.94253	GAA		0.383	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		22	72	1	0	6.33e-13	6.81e-13	22	72				
KDM5B	10765	broad.mit.edu	37	1	202702867	202702867	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:202702867G>A	ENST00000367265.3	-	23	4735	c.3571C>T	c.(3571-3573)Caa>Taa	p.Q1191*	KDM5B_ENST00000367264.2_Nonsense_Mutation_p.Q1227*	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1191					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AGTTCACATTGAATCATAGGG	0.517																																						uc001gyf.2		NA																	0				ovary(2)|breast(2)|urinary_tract(1)	5						c.(3571-3573)CAA>TAA		jumonji, AT rich interactive domain 1B							69.0	73.0	71.0					1																	202702867		2203	4300	6503	SO:0001587	stop_gained	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202702867G>A	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.3571C>T	1.37:g.202702867G>A	ENSP00000356234:p.Gln1191*					KDM5B_uc009xag.2_Nonsense_Mutation_p.Q1227*|KDM5B_uc001gyg.1_Nonsense_Mutation_p.Q1033*	p.Q1191*	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN			23	3687	-			1191			PHD-type 2.		O95811|Q15752|Q9Y3Q5	Nonsense_Mutation	SNP	ENST00000367265.3	37	c.3571C>T	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	G	47	13.130067	0.99721	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	.	.	.	6.09	6.09	0.99107	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-21.987	20.6935	0.99705	0.0:0.0:1.0:0.0	.	.	.	.	X	1191;1033;1227;1033	.	ENSP00000235790:Q1033X	Q	-	1	0	KDM5B	200969490	1.000000	0.71417	0.995000	0.50966	0.918000	0.54935	7.642000	0.83385	2.897000	0.99335	0.643000	0.83706	CAA		0.517	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		21	47	0	0	0	0	21	47				
KDM5B	10765	broad.mit.edu	37	1	202731854	202731854	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:202731854C>G	ENST00000367265.3	-	7	2055	c.891G>C	c.(889-891)aaG>aaC	p.K297N	KDM5B_ENST00000367264.2_Missense_Mutation_p.K333N	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	297					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TAGATCGACTCTTGGGCTTTT	0.393																																						uc001gyf.2		NA																	0				ovary(2)|breast(2)|urinary_tract(1)	5						c.(889-891)AAG>AAC		jumonji, AT rich interactive domain 1B							322.0	309.0	313.0					1																	202731854		2203	4299	6502	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202731854C>G	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.891G>C	1.37:g.202731854C>G	ENSP00000356234:p.Lys297Asn					KDM5B_uc009xag.2_Missense_Mutation_p.K333N|KDM5B_uc001gyg.1_Missense_Mutation_p.K139N	p.K297N	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN			7	1007	-			297					O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.891G>C	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.692187	0.48202	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	D;D;D	0.86562	-2.04;-1.83;-2.14	5.46	3.57	0.40892	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.258888	0.40640	N	0.001056	D	0.84023	0.5381	M	0.64997	1.995	0.39443	D	0.967281	P;B	0.47762	0.9;0.054	B;B	0.43082	0.407;0.044	D	0.84001	0.0343	10	0.42905	T	0.14	-7.5857	9.2351	0.37461	0.0:0.8198:0.0:0.1802	.	333;297	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	N	297;139;333;139	ENSP00000356234:K297N;ENSP00000356233:K333N;ENSP00000235790:K139N	ENSP00000235790:K139N	K	-	3	2	KDM5B	200998477	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.416000	0.34759	2.554000	0.86153	0.561000	0.74099	AAG		0.393	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		34	154	0	0	0	0	34	154				
AVPR1B	553	broad.mit.edu	37	1	206225115	206225115	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:206225115G>C	ENST00000367126.4	+	1	1140	c.675G>C	c.(673-675)gaG>gaC	p.E225D	RP11-38J22.3_ENST00000425896.1_RNA	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	225					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	TCTGCCATGAGATCTGTAAAA	0.607																																						uc001hds.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(673-675)GAG>GAC		arginine vasopressin receptor 1B	Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)						50.0	53.0	52.0					1																	206225115		2203	4300	6503	SO:0001583	missense	553				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr1:206225115G>C	D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.675G>C	1.37:g.206225115G>C	ENSP00000356094:p.Glu225Asp						p.E225D	NM_000707	NP_000698	P47901	V1BR_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0312)		1	833	+			225			Cytoplasmic (Potential).		B0M0J6|Q5TZ00	Missense_Mutation	SNP	ENST00000367126.4	37	c.675G>C	CCDS30994.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.653123	0.47362	.	.	ENSG00000198049	ENST00000367126	T	0.38240	1.15	5.66	1.78	0.24846	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.50939	0.1645	M	0.86178	2.8	0.38448	D	0.946889	P	0.39060	0.657	P	0.47915	0.561	T	0.57590	-0.7785	10	0.62326	D	0.03	-31.2035	11.3682	0.49684	0.2277:0.0:0.7723:0.0	.	225	P47901	V1BR_HUMAN	D	225	ENSP00000356094:E225D	ENSP00000356094:E225D	E	+	3	2	AVPR1B	204391738	1.000000	0.71417	0.991000	0.47740	0.783000	0.44284	1.451000	0.35145	0.083000	0.17047	-0.251000	0.11542	GAG		0.607	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087996.1	NM_000707		23	79	0	0	0	0	23	79				
KCNH1	3756	broad.mit.edu	37	1	210857055	210857055	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:210857055C>G	ENST00000271751.4	-	11	2565	c.2538G>C	c.(2536-2538)aaG>aaC	p.K846N	KCNH1_ENST00000367007.4_Missense_Mutation_p.K819N			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	846					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AGTCCTCACTCTTCCCGCAAG	0.612																																						uc001hib.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(2536-2538)AAG>AAC		potassium voltage-gated channel, subfamily H,							77.0	79.0	79.0					1																	210857055		2203	4300	6503	SO:0001583	missense	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:210857055C>G	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.2538G>C	1.37:g.210857055C>G	ENSP00000271751:p.Lys846Asn					KCNH1_uc001hic.2_Missense_Mutation_p.K819N	p.K846N	NM_172362	NP_758872	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	11	2708	-			846			Cytoplasmic (Potential).		B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	c.2538G>C	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028897	0.35797	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.99136	-5.44;-5.47	4.66	3.74	0.42951	.	0.191958	0.53938	D	0.000044	D	0.97158	0.9071	L	0.52573	1.65	0.43628	D	0.996019	B;B	0.30482	0.159;0.281	B;B	0.31946	0.093;0.138	D	0.96347	0.9255	10	0.38643	T	0.18	.	10.6068	0.45398	0.0:0.8385:0.0:0.1615	.	819;846	Q14CL3;O95259	.;KCNH1_HUMAN	N	846;819	ENSP00000271751:K846N;ENSP00000355974:K819N	ENSP00000271751:K846N	K	-	3	2	KCNH1	208923678	0.323000	0.24643	0.304000	0.25085	0.780000	0.44128	0.658000	0.24979	2.149000	0.67028	0.561000	0.74099	AAG		0.612	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		18	62	0	0	0	0	18	62				
SPATA45	149643	broad.mit.edu	37	1	213009314	213009314	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:213009314C>G	ENST00000332912.3	-	2	285	c.178G>C	c.(178-180)Gat>Cat	p.D60H		NM_001024601.2	NP_001019772.1	Q537H7	SPT45_HUMAN		60										kidney(1)|large_intestine(1)|lung(1)	3						GTTGTGGTATCAGTAAAGGAC	0.483																																						uc001hjq.2		NA																	0					0						c.(178-180)GAT>CAT		hypothetical protein LOC149643							152.0	142.0	145.0					1																	213009314		2203	4297	6500	SO:0001583	missense	149643							g.chr1:213009314C>G																												ENST00000332912.3:c.178G>C	1.37:g.213009314C>G	ENSP00000419160:p.Asp60His						p.D60H	NM_001024601	NP_001019772	Q537H7	CA227_HUMAN			2	286	-			60						Missense_Mutation	SNP	ENST00000332912.3	37	c.178G>C	CCDS31020.1	.	.	.	.	.	.	.	.	.	.	C	0.067	-1.210472	0.01555	.	.	ENSG00000185523	ENST00000332912	T	0.41758	0.99	4.71	-9.43	0.00607	.	2.205290	0.01651	N	0.024543	T	0.20901	0.0503	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09250	-1.0683	9	0.34782	T	0.22	7.1532	1.948	0.03361	0.2078:0.3713:0.1185:0.3024	.	60	Q537H7	CA227_HUMAN	H	60	ENSP00000419160:D60H	ENSP00000419160:D60H	D	-	1	0	C1orf227	211075937	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.437000	0.02419	-2.264000	0.00689	-0.139000	0.14373	GAT		0.483	C1orf227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089672.2			30	91	0	0	0	0	30	91				
CENPF	1063	broad.mit.edu	37	1	214816003	214816003	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:214816003C>T	ENST00000366955.3	+	12	4490	c.4322C>T	c.(4321-4323)tCa>tTa	p.S1441L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1537	2 X 96 AA approximate tandem repeats.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TATGTTGACTCATTAAAGGCC	0.423																																					Colon(80;575 1284 11000 14801 43496)	uc001hkm.2		NA																	0				ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13						c.(4321-4323)TCA>TTA		centromere protein F							51.0	55.0	54.0					1																	214816003		2203	4300	6503	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214816003C>T	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.4322C>T	1.37:g.214816003C>T	ENSP00000355922:p.Ser1441Leu						p.S1441L	NM_016343	NP_057427	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	12	4496	+			1537		Missing.	1-2.|2 X 96 AA approximate tandem repeats.		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.4322C>T	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	C	2.205	-0.382102	0.04966	.	.	ENSG00000117724	ENST00000366955	T	0.32988	1.43	4.49	1.42	0.22433	.	3.592490	0.01445	N	0.015241	T	0.17789	0.0427	N	0.14661	0.345	0.09310	N	1	B	0.15930	0.015	B	0.13407	0.009	T	0.14144	-1.0483	10	0.30854	T	0.27	.	1.1028	0.01687	0.1741:0.4235:0.1704:0.2321	.	1441	P49454	CENPF_HUMAN	L	1441	ENSP00000355922:S1441L	ENSP00000355922:S1441L	S	+	2	0	CENPF	212882626	0.000000	0.05858	0.004000	0.12327	0.037000	0.13140	0.243000	0.18106	0.076000	0.16826	0.655000	0.94253	TCA		0.423	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		12	38	0	0	0	0	12	38				
USH2A	7399	broad.mit.edu	37	1	216040365	216040365	+	Silent	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:216040365C>G	ENST00000307340.3	-	44	9215	c.8829G>C	c.(8827-8829)gtG>gtC	p.V2943V	USH2A_ENST00000366943.2_Silent_p.V2943V	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2943	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TAGCCCACCTCACGTCGATGG	0.448										HNSCC(13;0.011)																												uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(8827-8829)GTG>GTC		usherin isoform B							161.0	133.0	142.0					1																	216040365		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216040365C>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8829G>C	1.37:g.216040365C>G		HNSCC(13;0.011)					p.V2943V	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	44	9216	-			2943			Fibronectin type-III 16.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.8829G>C	CCDS31025.1																																																																																				0.448	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		18	47	0	0	0	0	18	47				
OBSCN	84033	broad.mit.edu	37	1	228509435	228509435	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:228509435G>A	ENST00000422127.1	+	55	14937	c.14893G>A	c.(14893-14895)Gat>Aat	p.D4965N	OBSCN_ENST00000366709.4_Missense_Mutation_p.D2084N|OBSCN_ENST00000366707.4_Missense_Mutation_p.D2599N|OBSCN_ENST00000284548.11_Missense_Mutation_p.D4965N|OBSCN_ENST00000570156.2_Missense_Mutation_p.D5922N	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4965	Ig-like 48.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGACCGTGCTGATGCTGGCTG	0.602																																						uc009xez.1		NA																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(14893-14895)GAT>AAT		obscurin, cytoskeletal calmodulin and							59.0	64.0	62.0					1																	228509435		2167	4267	6434	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228509435G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.14893G>A	1.37:g.228509435G>A	ENSP00000409493:p.Asp4965Asn					OBSCN_uc001hsn.2_Missense_Mutation_p.D4965N	p.D4965N	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			55	14937	+		Prostate(94;0.0405)	4965			Ig-like 48.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.14893G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071726	0.76301	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	5.34	5.34	0.76211	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.92113	0.7500	M	0.91818	3.245	0.53688	D	0.999979	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93222	0.6609	10	0.59425	D	0.04	.	19.0433	0.93010	0.0:0.0:1.0:0.0	.	4965;4965	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	N	4965;4965;2599;2084	ENSP00000284548:D4965N;ENSP00000409493:D4965N;ENSP00000355668:D2599N;ENSP00000355670:D2084N	ENSP00000284548:D4965N	D	+	1	0	OBSCN	226576058	1.000000	0.71417	0.071000	0.20095	0.030000	0.12068	9.317000	0.96327	2.510000	0.84645	0.655000	0.94253	GAT		0.602	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		22	76	0	0	0	0	22	76				
RYR2	6262	broad.mit.edu	37	1	237947379	237947379	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:237947379G>A	ENST00000366574.2	+	90	12684	c.12367G>A	c.(12367-12369)Gag>Aag	p.E4123K	RYR2_ENST00000360064.6_Missense_Mutation_p.E4129K|RYR2_ENST00000542537.1_Missense_Mutation_p.E4107K|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4123					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGAATTAGCAGAGAGCGTCCT	0.512																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(12367-12369)GAG>AAG		cardiac muscle ryanodine receptor							65.0	64.0	64.0					1																	237947379		1922	4144	6066	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237947379G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12367G>A	1.37:g.237947379G>A	ENSP00000355533:p.Glu4123Lys					RYR2_uc010pya.1_Missense_Mutation_p.E538K	p.E4123K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	12487	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4123					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.12367G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252518	0.59212	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.95885	-3.84;-3.84;-3.84	5.54	5.54	0.83059	.	0.079009	0.48767	D	0.000172	D	0.93000	0.7772	L	0.38838	1.175	0.80722	D	1	B;P	0.36789	0.276;0.57	B;B	0.38264	0.11;0.269	D	0.91442	0.5174	10	0.25751	T	0.34	.	19.4843	0.95024	0.0:0.0:1.0:0.0	.	1097;4123	B4DGV4;Q92736	.;RYR2_HUMAN	K	4123;4129;4107;1097	ENSP00000355533:E4123K;ENSP00000353174:E4129K;ENSP00000443798:E4107K	ENSP00000353174:E4129K	E	+	1	0	RYR2	236014002	1.000000	0.71417	0.994000	0.49952	0.446000	0.32137	9.813000	0.99286	2.610000	0.88304	0.655000	0.94253	GAG		0.512	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		19	24	0	0	0	0	19	24				
CEP170	9859	broad.mit.edu	37	1	243354558	243354558	+	Silent	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:243354558C>G	ENST00000366542.1	-	8	921	c.870G>C	c.(868-870)ggG>ggC	p.G290G	CEP170_ENST00000366543.1_Silent_p.G290G|CEP170_ENST00000366544.1_Silent_p.G290G	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	290						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TAGTTACCTTCCCTGGGGTAC	0.438																																						uc001hzs.2		NA																	0				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2						c.(868-870)GGG>GGC		centrosomal protein 170kDa isoform alpha							30.0	26.0	27.0					1																	243354558		1801	4057	5858	SO:0001819	synonymous_variant	9859					centriole|microtubule|spindle		g.chr1:243354558C>G	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.870G>C	1.37:g.243354558C>G						CEP170_uc001hzt.2_Silent_p.G290G|CEP170_uc001hzu.2_Silent_p.G290G	p.G290G	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		8	1278	-	all_neural(11;0.101)	all_cancers(173;0.003)	290					O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Silent	SNP	ENST00000366542.1	37	c.870G>C	CCDS44339.1	.	.	.	.	.	.	.	.	.	.	C	8.046	0.765035	0.15914	.	.	ENSG00000143702	ENST00000336415	T	0.30182	1.54	4.71	-3.07	0.05363	.	0.000000	0.85682	D	0.000000	T	0.33235	0.0856	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.19943	-1.0290	7	0.87932	D	0	-12.6773	4.7895	0.13241	0.0894:0.2243:0.1143:0.572	.	.	.	.	A	192	ENSP00000338161:G192A	ENSP00000338161:G192A	G	-	2	0	CEP170	241421181	0.919000	0.31177	0.992000	0.48379	0.988000	0.76386	0.010000	0.13242	-0.463000	0.06973	-0.380000	0.06706	GGA		0.438	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		4	16	0	0	0	0	4	16				
PGBD2	267002	broad.mit.edu	37	1	249211397	249211397	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:249211397C>T	ENST00000329291.5	+	3	761	c.614C>T	c.(613-615)cCc>cTc	p.P205L	PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000539153.1_Missense_Mutation_p.P202L	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	205										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GAAACCTCTCCCGATTCACAT	0.398																																						uc001ifh.2		NA																	0				ovary(1)	1						c.(613-615)CCC>CTC		hypothetical protein LOC267002 isoform a							138.0	141.0	140.0					1																	249211397		2203	4300	6503	SO:0001583	missense	267002							g.chr1:249211397C>T	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.614C>T	1.37:g.249211397C>T	ENSP00000331643:p.Pro205Leu					PGBD2_uc001ifg.2_Intron|PGBD2_uc009xhd.2_Missense_Mutation_p.P202L	p.P205L	NM_170725	NP_733843	Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		3	761	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	205					B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	37	c.614C>T	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883834	0.51908	.	.	ENSG00000185220	ENST00000329291;ENST00000539153	T;T	0.17213	2.29;2.29	3.84	2.9	0.33743	.	0.000000	0.36444	N	0.002594	T	0.13500	0.0327	N	0.22421	0.69	0.38272	D	0.94218	P;P	0.51933	0.949;0.643	P;B	0.48189	0.57;0.315	T	0.14172	-1.0482	10	0.22706	T	0.39	-24.2533	9.3428	0.38089	0.0:0.7803:0.2197:0.0	.	202;205	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	L	205;202	ENSP00000331643:P205L;ENSP00000439950:P202L	ENSP00000331643:P205L	P	+	2	0	PGBD2	247178020	0.984000	0.35163	0.997000	0.53966	0.977000	0.68977	1.548000	0.36201	0.926000	0.37118	0.655000	0.94253	CCC		0.398	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			34	120	0	0	0	0	34	120				
AKR1C4	1109	broad.mit.edu	37	10	5254582	5254582	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr10:5254582G>C	ENST00000380448.1	+	8	827	c.574G>C	c.(574-576)Gaa>Caa	p.E192Q	AKR1C4_ENST00000263126.1_Missense_Mutation_p.E192Q			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	192					androgen metabolic process (GO:0008209)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|bile acid transmembrane transporter activity (GO:0015125)|chlordecone reductase activity (GO:0047743)|electron carrier activity (GO:0009055)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|retinal dehydrogenase activity (GO:0001758)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						TCTAAAGGTAGAATGTCATCC	0.348																																						uc001ihw.2		NA																	0				ovary(1)	1						c.(574-576)GAA>CAA		aldo-keto reductase family 1, member C4	NADH(DB00157)						66.0	60.0	62.0					10																	5254582		2203	4300	6503	SO:0001583	missense	1109				androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity	g.chr10:5254582G>C	M33375	CCDS7064.1	10p15.1	2012-12-04	2012-12-04		ENSG00000198610	ENSG00000198610	1.1.1.225	"""Aldo-keto reductases"""	387	protein-coding gene	gene with protein product	"""chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4"""	600451	"""aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)"""	CHDR		7789999	Standard	NM_001818		Approved	DD4, HAKRA, C11, 3-alpha-HSD, CDR, MGC22581	uc001ihw.2	P17516	OTTHUMG00000017591	ENST00000380448.1:c.574G>C	10.37:g.5254582G>C	ENSP00000369814:p.Glu192Gln						p.E192Q	NM_001818	NP_001809	P17516	AK1C4_HUMAN			6	607	+			192					Q5T6A3|Q8WW84|Q9NS54	Missense_Mutation	SNP	ENST00000380448.1	37	c.574G>C	CCDS7064.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.293908	0.40594	.	.	ENSG00000198610	ENST00000380448;ENST00000263126	T;T	0.26373	1.74;1.74	3.13	3.13	0.36017	NADP-dependent oxidoreductase domain (3);	0.000000	0.64402	D	0.000006	T	0.55130	0.1901	M	0.90369	3.11	0.54753	D	0.999988	D	0.89917	1.0	D	0.78314	0.991	T	0.64774	-0.6328	10	0.87932	D	0	.	11.6899	0.51510	0.0:0.0:1.0:0.0	.	192	P17516	AK1C4_HUMAN	Q	192	ENSP00000369814:E192Q;ENSP00000263126:E192Q	ENSP00000263126:E192Q	E	+	1	0	AKR1C4	5244582	1.000000	0.71417	0.983000	0.44433	0.179000	0.23085	6.010000	0.70753	1.272000	0.44329	0.313000	0.20887	GAA		0.348	AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046543.2	NM_001818		11	30	0	0	0	0	11	30				
PCDH15	65217	broad.mit.edu	37	10	55912906	55912906	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr10:55912906C>A	ENST00000320301.6	-	14	2132	c.1738G>T	c.(1738-1740)Gca>Tca	p.A580S	PCDH15_ENST00000414778.1_Missense_Mutation_p.A585S|PCDH15_ENST00000395433.1_Missense_Mutation_p.A558S|PCDH15_ENST00000409834.1_Missense_Mutation_p.A191S|PCDH15_ENST00000395430.1_Missense_Mutation_p.A580S|PCDH15_ENST00000437009.1_Missense_Mutation_p.A580S|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.A587S|PCDH15_ENST00000373957.3_Missense_Mutation_p.A558S|PCDH15_ENST00000395432.2_Missense_Mutation_p.A543S|PCDH15_ENST00000395438.1_Missense_Mutation_p.A580S|PCDH15_ENST00000395445.1_Missense_Mutation_p.A587S|PCDH15_ENST00000361849.3_Missense_Mutation_p.A580S|PCDH15_ENST00000373955.1_Missense_Mutation_p.A580S|PCDH15_ENST00000395446.1_Missense_Mutation_p.A580S|PCDH15_ENST00000395440.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	580	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACCGTGAGTGCGTAAGTCCGC	0.488										HNSCC(58;0.16)																												uc001jju.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(1738-1740)GCA>TCA		protocadherin 15 isoform CD1-4 precursor							134.0	116.0	122.0					10																	55912906		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55912906C>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1738G>T	10.37:g.55912906C>A	ENSP00000322604:p.Ala580Ser	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.A585S|PCDH15_uc010qhr.1_Missense_Mutation_p.A580S|PCDH15_uc010qhs.1_Missense_Mutation_p.A592S|PCDH15_uc010qht.1_Missense_Mutation_p.A587S|PCDH15_uc010qhu.1_Missense_Mutation_p.A580S|PCDH15_uc001jjv.1_Missense_Mutation_p.A558S|PCDH15_uc010qhv.1_Missense_Mutation_p.A580S|PCDH15_uc010qhw.1_Missense_Mutation_p.A543S|PCDH15_uc010qhx.1_Missense_Mutation_p.A580S|PCDH15_uc010qhy.1_Missense_Mutation_p.A585S|PCDH15_uc010qhz.1_Missense_Mutation_p.A580S|PCDH15_uc010qia.1_Missense_Mutation_p.A558S|PCDH15_uc010qib.1_Missense_Mutation_p.A558S|PCDH15_uc001jjw.2_Missense_Mutation_p.A580S	p.A580S	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			14	2133	-		Melanoma(3;0.117)|Lung SC(717;0.238)	580			Cadherin 5.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.1738G>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586895	0.46110	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.83	5.83	0.93111	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.50837	0.1639	N	0.11023	0.085	0.58432	D	0.999999	D;D;D;P;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.97;0.994;0.787;0.999;0.998;1.0;0.989;0.998;0.994;0.996;0.989;0.995;0.989;0.994	D;D;D;P;D;D;D;D;D;D;D;D;P;D;D	0.91635	0.999;0.909;0.961;0.604;0.983;0.976;0.999;0.93;0.976;0.942;0.955;0.941;0.885;0.93;0.961	T	0.48547	-0.9026	9	0.17832	T	0.49	.	19.7294	0.96176	0.0:1.0:0.0:0.0	.	558;580;580;585;580;543;580;580;587;587;580;585;580;558;580	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	S	587;585;580;580;191;587;580;543;580;558;558;580;580;585;580;580	ENSP00000363076:A587S;ENSP00000410304:A585S;ENSP00000378826:A580S;ENSP00000386693:A191S;ENSP00000378832:A587S;ENSP00000378833:A580S;ENSP00000378820:A543S;ENSP00000354950:A580S;ENSP00000378821:A558S;ENSP00000363068:A558S;ENSP00000322604:A580S;ENSP00000378818:A580S;ENSP00000412628:A580S;ENSP00000363066:A580S	ENSP00000322604:A580S	A	-	1	0	PCDH15	55582912	0.997000	0.39634	0.786000	0.31890	0.094000	0.18550	3.662000	0.54510	2.764000	0.94973	0.650000	0.86243	GCA		0.488	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		12	31	1	0	0.000978159	0.00100873	12	31				
BICC1	80114	broad.mit.edu	37	10	60272997	60272997	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr10:60272997G>A	ENST00000373886.3	+	1	98	c.94G>A	c.(94-96)Gag>Aag	p.E32K		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	32					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						GCCCGGCTCCGAGGACGACTT	0.697																																						uc001jki.1		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(94-96)GAG>AAG		bicaudal C homolog 1							21.0	23.0	23.0					10																	60272997		2201	4299	6500	SO:0001583	missense	80114				multicellular organismal development		RNA binding	g.chr10:60272997G>A	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.94G>A	10.37:g.60272997G>A	ENSP00000362993:p.Glu32Lys						p.E32K	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN			1	94	+			32						Missense_Mutation	SNP	ENST00000373886.3	37	c.94G>A	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	g	14.12	2.441648	0.43326	.	.	ENSG00000122870	ENST00000373886	T	0.31769	1.48	2.86	0.731	0.18277	.	0.271361	0.24124	U	0.041330	T	0.16938	0.0407	L	0.53249	1.67	0.80722	D	1	P	0.44044	0.825	B	0.29663	0.105	T	0.32929	-0.9888	10	0.06757	T	0.87	-7.5166	8.9955	0.36050	0.0:0.0:0.6001:0.3999	.	32	Q9H694	BICC1_HUMAN	K	32	ENSP00000362993:E32K	ENSP00000362993:E32K	E	+	1	0	BICC1	59943003	1.000000	0.71417	0.992000	0.48379	0.768000	0.43524	6.274000	0.72587	0.054000	0.16065	0.274000	0.19336	GAG		0.697	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		13	18	0	0	0	0	13	18				
C10orf55	414236	broad.mit.edu	37	10	75672797	75672797	+	Intron	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr10:75672797G>A	ENST00000409178.1	-	3	301				PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372762.4_Silent_p.T67T|PLAU_ENST00000372764.3_Silent_p.T103T|PLAU_ENST00000446342.1_Silent_p.T86T|C10orf55_ENST00000412307.2_Intron	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55											endometrium(1)	1	Prostate(51;0.0112)					TTCAGCAAACGTACCATGCCC	0.572																																						uc001jwa.2		NA																	0				ovary(2)|kidney(1)	3						c.(307-309)ACG>ACA		plasminogen activator, urokinase isoform 1	Amiloride(DB00594)|Urokinase(DB00013)						74.0	68.0	70.0					10																	75672797		2203	4300	6503	SO:0001627	intron_variant	5328				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr10:75672797G>A		CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.39+3C>T	10.37:g.75672797G>A						C10orf55_uc001jvz.1_Intron|PLAU_uc010qkw.1_Silent_p.T86T|PLAU_uc010qkx.1_Silent_p.T17T|PLAU_uc001jwb.2_RNA|PLAU_uc001jwc.2_Silent_p.T103T|PLAU_uc009xrq.1_Silent_p.T67T	p.T103T	NM_002658	NP_002649	P00749	UROK_HUMAN			5	455	+	Prostate(51;0.0112)		103			Kringle.		Q3KRG4|Q8NAK4	Silent	SNP	ENST00000409178.1	37	c.309G>A	CCDS53541.1																																																																																				0.572	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1	NM_001001791		10	47	0	0	0	0	10	47				
SEMA4G	57715	broad.mit.edu	37	10	102743390	102743390	+	Silent	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr10:102743390G>C	ENST00000370250.4	+	14	2392	c.2019G>C	c.(2017-2019)gtG>gtC	p.V673V	MRPL43_ENST00000342071.1_Intron|MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000370241.3_Intron|SEMA4G_ENST00000517724.1_Intron|MRPL43_ENST00000299179.5_Intron|MRPL43_ENST00000318325.2_Intron|SEMA4G_ENST00000210633.3_Silent_p.V678V|MRPL43_ENST00000370242.4_Intron|RP11-108L7.4_ENST00000447344.1_RNA	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	673					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CACCTGATGTGAGACTGCTCT	0.637																																						uc001krw.1		NA																	0				breast(1)	1						c.(2032-2034)GTG>GTC		semaphorin 4G							58.0	54.0	55.0					10																	102743390		2203	4300	6503	SO:0001819	synonymous_variant	57715				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr10:102743390G>C	AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.2019G>C	10.37:g.102743390G>C						SEMA4G_uc001krv.2_RNA|SEMA4G_uc001krx.2_Intron|MRPL43_uc001kry.1_Intron|MRPL43_uc010qpu.1_Intron|MRPL43_uc001krz.1_Intron|MRPL43_uc001ksa.1_Intron|MRPL43_uc001ksb.1_Intron	p.V678V	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)	14	2418	+		Colorectal(252;0.234)	673			Extracellular (Potential).		A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Silent	SNP	ENST00000370250.4	37	c.2034G>C																																																																																					0.637	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2			3	21	0	0	0	0	3	21				
PDCD11	22984	broad.mit.edu	37	10	105174042	105174042	+	Silent	SNP	T	T	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr10:105174042T>C	ENST00000369797.3	+	11	1420	c.1326T>C	c.(1324-1326)gcT>gcC	p.A442A		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	442					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TTATTGAAGCTCAGTACCTTA	0.433																																						uc001kwy.1		NA																	0				ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7						c.(1324-1326)GCT>GCC		programmed cell death 11							152.0	135.0	141.0					10																	105174042		2203	4300	6503	SO:0001819	synonymous_variant	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105174042T>C	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.1326T>C	10.37:g.105174042T>C							p.A442A	NM_014976	NP_055791	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	11	1413	+		Colorectal(252;0.0747)|Breast(234;0.128)	442					Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Silent	SNP	ENST00000369797.3	37	c.1326T>C	CCDS31276.1																																																																																				0.433	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			16	28	0	0	0	0	16	28				
PNLIPRP3	119548	broad.mit.edu	37	10	118202613	118202613	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr10:118202613G>T	ENST00000369230.3	+	3	397	c.251G>T	c.(250-252)gGa>gTa	p.G84V		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	84					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TCATATTTTGGAACAGACAAG	0.348																																						uc001lcl.3		NA																	0				ovary(1)	1						c.(250-252)GGA>GTA		pancreatic lipase-related protein 3 precursor							97.0	89.0	92.0					10																	118202613		2203	4300	6503	SO:0001583	missense	119548				lipid catabolic process	extracellular region	triglyceride lipase activity	g.chr10:118202613G>T	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.251G>T	10.37:g.118202613G>T	ENSP00000358232:p.Gly84Val						p.G84V	NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN		all cancers(201;0.0131)	3	352	+			84						Missense_Mutation	SNP	ENST00000369230.3	37	c.251G>T	CCDS31292.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.438875	0.25900	.	.	ENSG00000203837	ENST00000369230	D	0.91945	-2.94	4.6	1.4	0.22301	Lipase, N-terminal (1);	0.520880	0.15717	N	0.248094	T	0.82107	0.4965	N	0.19112	0.55	0.19775	N	0.999952	B	0.06786	0.001	B	0.04013	0.001	T	0.70375	-0.4889	10	0.48119	T	0.1	.	3.6254	0.08111	0.0992:0.1645:0.5677:0.1686	.	84	Q17RR3	LIPR3_HUMAN	V	84	ENSP00000358232:G84V	ENSP00000358232:G84V	G	+	2	0	PNLIPRP3	118192603	0.004000	0.15560	0.012000	0.15200	0.748000	0.42578	1.349000	0.33998	0.463000	0.27118	0.644000	0.83932	GGA		0.348	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404		9	31	1	0	1.13e-05	1.18e-05	9	31				
LHPP	64077	broad.mit.edu	37	10	126172787	126172787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr10:126172787C>T	ENST00000368842.5	+	2	233	c.205C>T	c.(205-207)Cag>Tag	p.Q69*	LHPP_ENST00000368839.1_Nonsense_Mutation_p.Q69*|LHPP_ENST00000392757.4_Nonsense_Mutation_p.Q69*	NM_022126.3	NP_071409.3	Q9H008	LHPP_HUMAN	phospholysine phosphohistidine inorganic pyrophosphate phosphatase	69					phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)|phosphohistidine phosphatase activity (GO:0008969)|protein homodimerization activity (GO:0042803)			large_intestine(2)|lung(2)	4		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)		GGGGCAGCTTCAGAGGCTGGG	0.627																																					GBM(165;1980 2715 15999 18454)	uc001lhs.1		NA																	0					0						c.(205-207)CAG>TAG		phospholysine phosphohistidine inorganic							48.0	49.0	48.0					10																	126172787		2203	4300	6503	SO:0001587	stop_gained	64077				protein dephosphorylation	cytosol|nucleus	inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity	g.chr10:126172787C>T	AB049629	CCDS7640.1, CCDS53587.1	10q26.2	2010-02-17			ENSG00000107902	ENSG00000107902	3.6.1.1		30042	protein-coding gene	gene with protein product						12801912, 16430861	Standard	NM_022126		Approved	HDHD2B	uc001lhs.2	Q9H008	OTTHUMG00000019214	ENST00000368842.5:c.205C>T	10.37:g.126172787C>T	ENSP00000357835:p.Gln69*					LHPP_uc001lht.1_Nonsense_Mutation_p.Q69*|LHPP_uc009yai.1_Nonsense_Mutation_p.Q69*	p.Q69*	NM_022126	NP_071409	Q9H008	LHPP_HUMAN		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)	2	225	+		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	69					B3KP20|Q2TBE9|Q5VUV9|Q5VUW0	Nonsense_Mutation	SNP	ENST00000368842.5	37	c.205C>T	CCDS7640.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.585234	0.46110	.	.	ENSG00000107902	ENST00000392757;ENST00000368842;ENST00000368839	.	.	.	4.46	4.46	0.54185	.	0.520544	0.20509	N	0.090922	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-9.8858	17.6787	0.88237	0.0:1.0:0.0:0.0	.	.	.	.	X	69	.	ENSP00000357832:Q69X	Q	+	1	0	LHPP	126162777	0.163000	0.22920	0.009000	0.14445	0.006000	0.05464	4.269000	0.58890	2.487000	0.83934	0.650000	0.86243	CAG		0.627	LHPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050870.1	NM_022126		13	51	0	0	0	0	13	51				
KRTAP5-1	387264	broad.mit.edu	37	11	1606411	1606411	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:1606411G>A	ENST00000382171.2	-	1	102	c.69C>T	c.(67-69)ggC>ggT	p.G23G	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	23						keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CGGAGCCACAGCCCCCACAGC	0.677																																						uc001ltu.1		NA																	0					0						c.(67-69)GGC>GGT		keratin associated protein 5-1							37.0	49.0	45.0					11																	1606411		2167	4248	6415	SO:0001819	synonymous_variant	387264					keratin filament		g.chr11:1606411G>A	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.69C>T	11.37:g.1606411G>A						LOC338651_uc009ycx.1_Intron|LOC338651_uc001ltt.1_Intron	p.G23G	NM_001005922	NP_001005922	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	103	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	23						Silent	SNP	ENST00000382171.2	37	c.69C>T	CCDS31330.1																																																																																				0.677	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		3	64	0	0	0	0	3	64				
KRTAP5-3	387266	broad.mit.edu	37	11	1628959	1628959	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:1628959G>A	ENST00000399685.1	-	1	734	c.657C>T	c.(655-657)tgC>tgT	p.C219C		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	219	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		AGCAGGGCTTgcagcagctgg	0.607																																						uc001ltw.1		NA																	0				ovary(2)	2						c.(655-657)TGC>TGT		keratin associated protein 5-3							150.0	156.0	154.0					11																	1628959		2202	4299	6501	SO:0001819	synonymous_variant	387266					keratin filament		g.chr11:1628959G>A	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"""Keratin associated proteins"""	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.657C>T	11.37:g.1628959G>A							p.C219C	NM_001012708	NP_001012726	Q6L8H2	KRA53_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	1	735	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	219			11 X 4 AA repeats of C-C-X-P.|10.		Q6PL44|Q701N3	Silent	SNP	ENST00000399685.1	37	c.657C>T	CCDS41591.1																																																																																				0.607	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			6	169	0	0	0	0	6	169				
KRTAP5-4	387267	broad.mit.edu	37	11	1642730	1642730	+	Silent	SNP	A	A	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:1642730A>G	ENST00000399682.1	-	1	638	c.594T>C	c.(592-594)ggT>ggC	p.G198G		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ATGACCCACAACCTGAGGAGG	0.597																																						uc009ycy.1		NA																	0					0						c.(730-732)GGT>GGC		keratin associated protein 5-4							48.0	51.0	50.0					11																	1642730		692	1591	2283	SO:0001819	synonymous_variant	387267					keratin filament		g.chr11:1642730A>G	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.594T>C	11.37:g.1642730A>G							p.G244G	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	4	819	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	258			9 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000399682.1	37	c.732T>C																																																																																					0.597	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		6	108	0	0	0	0	6	108				
KRTAP5-4	387267	broad.mit.edu	37	11	1642736	1642736	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:1642736G>A	ENST00000399682.1	-	1	632	c.588C>T	c.(586-588)tcC>tcT	p.S196S		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CACAACCTGAGGAGGAGCAGC	0.597																																						uc009ycy.1		NA																	0					0						c.(724-726)TCC>TCT		keratin associated protein 5-4							43.0	48.0	46.0					11																	1642736		692	1591	2283	SO:0001819	synonymous_variant	387267					keratin filament		g.chr11:1642736G>A	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.588C>T	11.37:g.1642736G>A							p.S242S	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	4	813	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	256			9 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000399682.1	37	c.726C>T																																																																																					0.597	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		6	114	0	0	0	0	6	114				
KRTAP5-4	387267	broad.mit.edu	37	11	1642740	1642740	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:1642740G>C	ENST00000399682.1	-	1	628	c.584C>G	c.(583-585)tCc>tGc	p.S195C		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACCTGAGGAGGAGCAGCAGGG	0.597																																						uc009ycy.1		NA																	0					0						c.(721-723)TCC>TGC		keratin associated protein 5-4							42.0	47.0	46.0					11																	1642740		692	1591	2283	SO:0001583	missense	387267					keratin filament		g.chr11:1642740G>C	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.584C>G	11.37:g.1642740G>C	ENSP00000382590:p.Ser195Cys						p.S241C	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	4	809	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	255			9 X 4 AA repeats of C-C-X-P.			Missense_Mutation	SNP	ENST00000399682.1	37	c.722C>G		.	.	.	.	.	.	.	.	.	.	G	0.583	-0.836336	0.02692	.	.	ENSG00000241598	ENST00000399682;ENST00000328953	T	0.00784	5.7	2.03	-0.247	0.13019	.	.	.	.	.	T	0.00356	0.0011	N	0.00471	-1.455	0.20563	N	0.99989	B	0.02656	0.0	B	0.01281	0.0	T	0.45293	-0.9271	9	0.48119	T	0.1	.	9.1798	0.37134	0.0:0.5681:0.4319:0.0	.	255	Q6L8H1	KRA54_HUMAN	C	195;186	ENSP00000382590:S195C	ENSP00000331603:S186C	S	-	2	0	KRTAP5-4	1599316	0.000000	0.05858	0.017000	0.16124	0.019000	0.09904	-3.163000	0.00576	-0.213000	0.10094	-0.719000	0.03609	TCC		0.597	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		6	115	0	0	0	0	6	115				
KRTAP5-4	387267	broad.mit.edu	37	11	1642817	1642817	+	Silent	SNP	A	A	G	rs540908783|rs374921824	byFrequency	TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:1642817A>G	ENST00000399682.1	-	1	551	c.507T>C	c.(505-507)ggT>ggC	p.G169G		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ATGACCCACAACCTGAGGAGG	0.612													a|||	106	0.0211661	0.0393	0.0115	5008	,	,		14637	0.0119		0.0209	False		,,,				2504	0.0133					uc009ycy.1		NA																	0					0						c.(643-645)GGT>GGC		keratin associated protein 5-4							24.0	35.0	32.0					11																	1642817		692	1591	2283	SO:0001819	synonymous_variant	387267					keratin filament		g.chr11:1642817A>G	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.507T>C	11.37:g.1642817A>G							p.G215G	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	4	732	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	229			9 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000399682.1	37	c.645T>C																																																																																					0.612	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		4	118	0	0	0	0	4	118				
KRTAP5-4	387267	broad.mit.edu	37	11	1642823	1642823	+	Silent	SNP	G	G	A	rs529692233|rs374921824	byFrequency	TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:1642823G>A	ENST00000399682.1	-	1	545	c.501C>T	c.(499-501)tcC>tcT	p.S167S		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CACAACCTGAGGAGGAGCAGC	0.617													g|||	139	0.0277556	0.0522	0.0159	5008	,	,		14834	0.0179		0.0229	False		,,,				2504	0.0184					uc009ycy.1		NA																	0					0						c.(637-639)TCC>TCT		keratin associated protein 5-4							22.0	34.0	30.0					11																	1642823		692	1590	2282	SO:0001819	synonymous_variant	387267					keratin filament		g.chr11:1642823G>A	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.501C>T	11.37:g.1642823G>A							p.S213S	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	4	726	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	227			9 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000399682.1	37	c.639C>T																																																																																					0.617	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		12	117	0	0	0	0	12	117				
KRTAP5-4	387267	broad.mit.edu	37	11	1643252	1643252	+	Silent	SNP	A	A	G	rs190925107		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:1643252A>G	ENST00000399682.1	-	1	116	c.72T>C	c.(70-72)tgT>tgC	p.C24C		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0						keratin filament (GO:0045095)		p.C24C(5)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		agccagagccacagcccccac	0.687																																						uc009ycy.1		NA																	5	Substitution - coding silent(5)		endometrium(4)|prostate(1)		0						c.(28-30)TGT>TGC		keratin associated protein 5-4																																				SO:0001819	synonymous_variant	387267					keratin filament		g.chr11:1643252A>G	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.72T>C	11.37:g.1643252A>G							p.C10C	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	117	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	24						Silent	SNP	ENST00000399682.1	37	c.30T>C																																																																																					0.687	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		101	33	0	0	0	0	101	33				
OR52K1	390036	broad.mit.edu	37	11	4510323	4510323	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:4510323C>G	ENST00000307632.3	+	1	215	c.193C>G	c.(193-195)Ctg>Gtg	p.L65V		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		GTACCTCTTTCTGGCCATGTT	0.488																																						uc001lza.1		NA																	0					0						c.(193-195)CTG>GTG		olfactory receptor, family 52, subfamily K,							164.0	142.0	150.0					11																	4510323		2201	4298	6499	SO:0001583	missense	390036				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4510323C>G	AB065790	CCDS31352.1	11p15.4	2012-08-09			ENSG00000196778	ENSG00000196778		"""GPCR / Class A : Olfactory receptors"""	15222	protein-coding gene	gene with protein product							Standard	NM_001005171		Approved		uc001lza.2	Q8NGK4	OTTHUMG00000165705	ENST00000307632.3:c.193C>G	11.37:g.4510323C>G	ENSP00000302422:p.Leu65Val						p.L65V	NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	193	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	65			Helical; Name=2; (Potential).		B9EH54|Q6IFK5	Missense_Mutation	SNP	ENST00000307632.3	37	c.193C>G	CCDS31352.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.210418	0.39003	.	.	ENSG00000196778	ENST00000307632	T	0.14022	2.54	3.59	0.492	0.16872	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34725	N	0.003724	T	0.31949	0.0813	M	0.83852	2.665	0.24664	N	0.993456	D	0.71674	0.998	D	0.77557	0.99	T	0.06445	-1.0826	10	0.87932	D	0	.	5.1851	0.15180	0.0:0.4882:0.3155:0.1963	.	65	Q8NGK4	O52K1_HUMAN	V	65	ENSP00000302422:L65V	ENSP00000302422:L65V	L	+	1	2	OR52K1	4466899	0.025000	0.19082	0.995000	0.50966	0.732000	0.41865	-0.149000	0.10204	0.103000	0.17682	0.508000	0.49915	CTG		0.488	OR52K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385846.1	NM_001005171		34	22	0	0	0	0	34	22				
OR51A7	119687	broad.mit.edu	37	11	4929349	4929349	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:4929349C>A	ENST00000359350.4	+	1	750	c.750C>A	c.(748-750)ttC>ttA	p.F250L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	250						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTCACCTTCTATGTGCCCA	0.483																																						uc010qyq.1		NA																	0				ovary(1)|skin(1)	2						c.(748-750)TTC>TTA		olfactory receptor, family 51, subfamily A,							229.0	216.0	221.0					11																	4929349		2201	4298	6499	SO:0001583	missense	119687				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4929349C>A	AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"""GPCR / Class A : Olfactory receptors"""	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.750C>A	11.37:g.4929349C>A	ENSP00000352305:p.Phe250Leu						p.F250L	NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	750	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	250			Helical; Name=6; (Potential).		Q6IFH8	Missense_Mutation	SNP	ENST00000359350.4	37	c.750C>A	CCDS31364.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713966	0.68730	.	.	ENSG00000176895	ENST00000359350;ENST00000545959;ENST00000544684	T	0.70749	-0.51	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000130	D	0.84606	0.5509	M	0.80422	2.495	0.30398	N	0.780288	D	0.89917	1.0	D	0.97110	1.0	T	0.83043	-0.0156	10	0.51188	T	0.08	.	17.069	0.86568	0.0:1.0:0.0:0.0	.	250	Q8NH64	O51A7_HUMAN	L	250;250;239	ENSP00000352305:F250L	ENSP00000352305:F250L	F	+	3	2	OR51A7	4885925	0.086000	0.21541	1.000000	0.80357	0.935000	0.57460	0.036000	0.13819	2.596000	0.87737	0.655000	0.94253	TTC		0.483	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142175.1	NM_001004749		40	56	1	0	4.18e-13	4.5e-13	40	56				
KCNA4	3739	broad.mit.edu	37	11	30034073	30034073	+	Silent	SNP	G	G	C	rs60942363		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:30034073G>C	ENST00000328224.6	-	2	1386	c.153C>G	c.(151-153)gtC>gtG	p.V51V	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	51					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CGCTACCTTCGACAGCAGCTG	0.677																																						uc001msk.2		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(151-153)GTC>GTG		potassium voltage-gated channel, shaker-related							36.0	38.0	37.0					11																	30034073		1830	4040	5870	SO:0001819	synonymous_variant	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30034073G>C	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.153C>G	11.37:g.30034073G>C							p.V51V	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	1305	-			51						Silent	SNP	ENST00000328224.6	37	c.153C>G	CCDS41629.1																																																																																				0.677	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		14	16	0	0	0	0	14	16				
TTC17	55761	broad.mit.edu	37	11	43411297	43411297	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:43411297C>G	ENST00000039989.4	+	3	359	c.345C>G	c.(343-345)atC>atG	p.I115M	TTC17_ENST00000299240.6_Missense_Mutation_p.I115M|RP11-484D2.4_ENST00000394183.2_RNA	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	115					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CAGACTGCATCAAAGCCAAGG	0.398																																						uc001mxi.2		NA																	0				ovary(5)	5						c.(343-345)ATC>ATG		tetratricopeptide repeat domain 17							147.0	140.0	142.0					11																	43411297		2203	4300	6503	SO:0001583	missense	55761						binding	g.chr11:43411297C>G	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.345C>G	11.37:g.43411297C>G	ENSP00000039989:p.Ile115Met					TTC17_uc001mxh.2_Missense_Mutation_p.I115M|TTC17_uc010rfj.1_Missense_Mutation_p.I58M	p.I115M	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN			3	359	+			115					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.345C>G	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721883	0.68959	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.34472	1.37;1.36	4.87	4.87	0.63330	.	0.048728	0.85682	D	0.000000	T	0.31071	0.0785	L	0.43152	1.355	0.34869	D	0.743426	B;P;B	0.44816	0.027;0.844;0.161	B;B;B	0.41619	0.036;0.361;0.079	T	0.48175	-0.9058	10	0.52906	T	0.07	-13.417	9.8016	0.40768	0.0:0.8701:0.0:0.1299	.	115;115;115	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	M	115	ENSP00000299240:I115M;ENSP00000039989:I115M	ENSP00000039989:I115M	I	+	3	3	TTC17	43367873	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.983000	0.29552	2.400000	0.81607	0.563000	0.77884	ATC		0.398	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		27	134	0	0	0	0	27	134				
OR4A16	81327	broad.mit.edu	37	11	55111514	55111514	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:55111514T>A	ENST00000314721.2	+	1	888	c.838T>A	c.(838-840)Ttg>Atg	p.L280M		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CACACTCATGTTGAATCCTTT	0.318																																						uc010rie.1		NA																	0				large_intestine(2)|pancreas(1)	3						c.(838-840)TTG>ATG		olfactory receptor, family 4, subfamily A,							81.0	77.0	78.0					11																	55111514		2201	4296	6497	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111514T>A	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.838T>A	11.37:g.55111514T>A	ENSP00000325128:p.Leu280Met						p.L280M	NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN			1	838	+			280			Helical; Name=7; (Potential).		Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.838T>A	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	t	6.905	0.536518	0.13188	.	.	ENSG00000181961	ENST00000314721	T	0.49432	0.78	2.86	1.72	0.24424	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.50667	0.1629	L	0.55017	1.72	0.25666	N	0.985946	D	0.56035	0.974	P	0.54856	0.762	T	0.39231	-0.9624	9	0.72032	D	0.01	.	4.4836	0.11780	0.0:0.3064:0.0:0.6936	.	280	Q8NH70	O4A16_HUMAN	M	280	ENSP00000325128:L280M	ENSP00000325128:L280M	L	+	1	2	OR4A16	54868090	0.277000	0.24220	1.000000	0.80357	0.365000	0.29674	0.107000	0.15375	0.340000	0.23745	0.346000	0.21813	TTG		0.318	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		13	54	0	0	0	0	13	54				
TRIM51	84767	broad.mit.edu	37	11	55658863	55658863	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:55658863G>C	ENST00000449290.2	+	7	1206	c.1114G>C	c.(1114-1116)Gat>Cat	p.D372H	TRIM51_ENST00000244891.3_Missense_Mutation_p.D229H	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	372	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)										TGACAAGATAGATGGAGAGGA	0.443																																						uc010rip.1		NA																	0					0						c.(1114-1116)GAT>CAT		SPRY domain containing 5							29.0	32.0	31.0					11																	55658863		2078	3997	6075	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55658863G>C	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.1114G>C	11.37:g.55658863G>C	ENSP00000395086:p.Asp372His					SPRYD5_uc010riq.1_Missense_Mutation_p.D229H	p.D372H	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			7	1206	+		all_epithelial(135;0.226)	372			B30.2/SPRY.		A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.1114G>C		.	.	.	.	.	.	.	.	.	.	.	0.012	-1.660217	0.00772	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.68903	-0.36;-0.36	0.655	-1.31	0.09230	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.49406	0.1555	L	0.43152	1.355	0.09310	N	1	B	0.18013	0.025	B	0.24394	0.053	T	0.33954	-0.9848	8	0.15499	T	0.54	.	.	.	.	.	372	Q9BSJ1	SPRY5_HUMAN	H	372;229	ENSP00000395086:D372H;ENSP00000244891:D229H	ENSP00000244891:D229H	D	+	1	0	SPRYD5	55415439	0.001000	0.12720	0.000000	0.03702	0.163000	0.22366	0.594000	0.24014	-1.123000	0.02940	0.162000	0.16502	GAT		0.443	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		17	63	0	0	0	0	17	63				
OR8H3	390152	broad.mit.edu	37	11	55890553	55890553	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:55890553G>C	ENST00000313472.3	+	1	705	c.705G>C	c.(703-705)caG>caC	p.Q235H		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CAGGAAAGCAGAAAGCTTTCT	0.413																																						uc001nii.1		NA																	0				ovary(2)	2						c.(703-705)CAG>CAC		olfactory receptor, family 8, subfamily H,							129.0	122.0	125.0					11																	55890553		2201	4294	6495	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890553G>C	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.705G>C	11.37:g.55890553G>C	ENSP00000323928:p.Gln235His						p.Q235H	NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN			1	705	+	Esophageal squamous(21;0.00693)		235			Cytoplasmic (Potential).		Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.705G>C	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	G	0.686	-0.796254	0.02862	.	.	ENSG00000181761	ENST00000313472	T	0.00028	8.92	3.62	-7.23	0.01480	GPCR, rhodopsin-like superfamily (1);	1.116660	0.06758	N	0.781309	T	0.00073	0.0002	N	0.17800	0.525	0.19575	N	0.999963	B	0.14012	0.009	B	0.18561	0.022	T	0.02751	-1.1115	10	0.16896	T	0.51	.	5.0053	0.14284	0.1733:0.5469:0.1872:0.0927	.	235	Q8N146	OR8H3_HUMAN	H	235	ENSP00000323928:Q235H	ENSP00000323928:Q235H	Q	+	3	2	OR8H3	55647129	0.000000	0.05858	0.761000	0.31378	0.386000	0.30323	-3.687000	0.00393	-1.479000	0.01867	0.173000	0.16961	CAG		0.413	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		19	117	0	0	0	0	19	117				
SSRP1	6749	broad.mit.edu	37	11	57097867	57097867	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:57097867C>T	ENST00000278412.2	-	11	1599	c.1333G>A	c.(1333-1335)Gat>Aat	p.D445N	RP11-872D17.4_ENST00000534162.1_RNA|snoU13_ENST00000459327.1_RNA	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	445	Asp/Glu-rich (acidic).				DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TGGTCCTCATCAGAGTCAGCA	0.537																																					Colon(89;1000 1340 6884 23013 41819)	uc001njt.2		NA																	0				ovary(2)	2						c.(1333-1335)GAT>AAT		structure specific recognition protein 1							146.0	109.0	121.0					11																	57097867		2201	4296	6497	SO:0001583	missense	6749				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding	g.chr11:57097867C>T	M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 80 kDa subunit"""	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.1333G>A	11.37:g.57097867C>T	ENSP00000278412:p.Asp445Asn						p.D445N	NM_003146	NP_003137	Q08945	SSRP1_HUMAN			11	1600	-			445			Asp/Glu-rich (acidic).		Q5BJG8	Missense_Mutation	SNP	ENST00000278412.2	37	c.1333G>A	CCDS7952.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770792	0.90108	.	.	ENSG00000149136	ENST00000278412	D	0.94457	-3.43	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.95294	0.8473	M	0.87682	2.9	0.80722	D	1	P	0.46784	0.884	B	0.43155	0.41	D	0.94615	0.7808	10	0.32370	T	0.25	-27.4048	18.6866	0.91567	0.0:1.0:0.0:0.0	.	445	Q08945	SSRP1_HUMAN	N	445	ENSP00000278412:D445N	ENSP00000278412:D445N	D	-	1	0	SSRP1	56854443	1.000000	0.71417	0.920000	0.36463	0.798000	0.45092	5.559000	0.67326	2.747000	0.94245	0.462000	0.41574	GAT		0.537	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146		4	31	0	0	0	0	4	31				
ZDHHC5	25921	broad.mit.edu	37	11	57466638	57466638	+	Missense_Mutation	SNP	C	C	T	rs555314929		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:57466638C>T	ENST00000287169.3	+	11	3092	c.1730C>T	c.(1729-1731)tCg>tTg	p.S577L	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.S524L	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	577					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						ACACCAGGCTCGGGCCATGCC	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		19606	0.0		0.0	False		,,,				2504	0.001					uc001nkx.1		NA																	0				skin(1)	1						c.(1729-1731)TCG>TTG		zinc finger, DHHC domain containing 5							79.0	84.0	82.0					11																	57466638		2201	4296	6497	SO:0001583	missense	25921					integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:57466638C>T	AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"""Zinc fingers, DHHC-type"""	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.1730C>T	11.37:g.57466638C>T	ENSP00000287169:p.Ser577Leu					ZDHHC5_uc001nky.1_Missense_Mutation_p.S524L|ZDHHC5_uc001nkz.1_Missense_Mutation_p.S391L	p.S577L	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN			11	2986	+			577					Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Missense_Mutation	SNP	ENST00000287169.3	37	c.1730C>T	CCDS7965.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181119	0.78677	.	.	ENSG00000156599	ENST00000527985;ENST00000287169	T;T	0.59224	0.28;1.29	5.3	5.3	0.74995	.	0.502584	0.21123	N	0.079787	T	0.65491	0.2696	L	0.38175	1.15	0.48288	D	0.999627	D	0.64830	0.994	P	0.61201	0.885	T	0.63418	-0.6642	10	0.44086	T	0.13	-15.1292	16.9096	0.86137	0.0:1.0:0.0:0.0	.	577	Q9C0B5	ZDHC5_HUMAN	L	524;577	ENSP00000432202:S524L;ENSP00000287169:S577L	ENSP00000287169:S577L	S	+	2	0	ZDHHC5	57223214	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	3.479000	0.53165	2.769000	0.95229	0.655000	0.94253	TCG		0.597	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1	NM_015457		34	144	0	0	0	0	34	144				
OR5B3	441608	broad.mit.edu	37	11	58170596	58170596	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:58170596G>C	ENST00000309403.2	-	1	286	c.287C>G	c.(286-288)gCt>gGt	p.A96G		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CATTTGAGCAGCACATGCATT	0.448																																						uc010rkf.1		NA																	0					0						c.(286-288)GCT>GGT		olfactory receptor, family 5, subfamily B,							133.0	122.0	126.0					11																	58170596		2201	4295	6496	SO:0001583	missense	441608				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58170596G>C	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"""GPCR / Class A : Olfactory receptors"""	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.287C>G	11.37:g.58170596G>C	ENSP00000308270:p.Ala96Gly						p.A96G	NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN			1	287	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	96			Extracellular (Potential).		Q6IEV6	Missense_Mutation	SNP	ENST00000309403.2	37	c.287C>G	CCDS31549.1	.	.	.	.	.	.	.	.	.	.	g	6.270	0.417994	0.11870	.	.	ENSG00000172769	ENST00000309403	T	0.00406	7.55	4.19	3.22	0.36961	GPCR, rhodopsin-like superfamily (1);	0.140542	0.32785	N	0.005652	T	0.00384	0.0012	L	0.59436	1.845	0.09310	N	1	B	0.26672	0.156	B	0.30105	0.111	T	0.41251	-0.9519	10	0.66056	D	0.02	-33.4457	6.8862	0.24202	0.2325:0.0:0.7675:0.0	.	96	Q8NH48	OR5B3_HUMAN	G	96	ENSP00000308270:A96G	ENSP00000308270:A96G	A	-	2	0	OR5B3	57927172	0.003000	0.15002	0.938000	0.37757	0.033000	0.12548	1.665000	0.37449	1.033000	0.39918	0.585000	0.79938	GCT		0.448	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469		24	87	0	0	0	0	24	87				
OR5A2	219981	broad.mit.edu	37	11	59190242	59190242	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:59190242A>G	ENST00000302040.4	-	1	207	c.185T>C	c.(184-186)tTc>tCc	p.F62S		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						ACTGAGGAAGAAGTACATGGG	0.488																																						uc010rkt.1		NA																	0					0						c.(184-186)TTC>TCC		olfactory receptor, family 5, subfamily A,							146.0	121.0	130.0					11																	59190242		2201	4295	6496	SO:0001583	missense	219981				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59190242A>G	AB065805	CCDS31560.1	11q12.1	2012-08-09			ENSG00000172324	ENSG00000172324		"""GPCR / Class A : Olfactory receptors"""	15249	protein-coding gene	gene with protein product							Standard	NM_001001954		Approved		uc010rkt.2	Q8NGI9	OTTHUMG00000167419	ENST00000302040.4:c.185T>C	11.37:g.59190242A>G	ENSP00000303834:p.Phe62Ser						p.F62S	NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN			1	185	-			62			Helical; Name=2; (Potential).		B9EH21|Q6IFF4|Q96RB0	Missense_Mutation	SNP	ENST00000302040.4	37	c.185T>C	CCDS31560.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.948083	0.73787	.	.	ENSG00000172324	ENST00000302040	T	0.00557	6.62	5.47	5.47	0.80525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36591	U	0.002517	T	0.02571	0.0078	M	0.92459	3.31	0.35348	D	0.787089	D	0.58970	0.984	P	0.57244	0.816	T	0.10965	-1.0607	10	0.87932	D	0	.	13.7874	0.63119	1.0:0.0:0.0:0.0	.	62	Q8NGI9	OR5A2_HUMAN	S	62	ENSP00000303834:F62S	ENSP00000303834:F62S	F	-	2	0	OR5A2	58946818	0.997000	0.39634	1.000000	0.80357	0.950000	0.60333	3.567000	0.53813	2.212000	0.71576	0.477000	0.44152	TTC		0.488	OR5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394552.1	NM_001001954		29	52	0	0	0	0	29	52				
OR4D9	390199	broad.mit.edu	37	11	59283060	59283060	+	Silent	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:59283060G>C	ENST00000329328.3	+	1	675	c.675G>C	c.(673-675)ctG>ctC	p.L225L		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L225L(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						TGATGATGCTGAGGTCTCACA	0.488																																						uc010rkv.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(673-675)CTG>CTC		olfactory receptor, family 4, subfamily D,							228.0	199.0	209.0					11																	59283060		2201	4295	6496	SO:0001819	synonymous_variant	390199				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59283060G>C	AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"""GPCR / Class A : Olfactory receptors"""	15178	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily D, member 9 pseudogene"""				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.675G>C	11.37:g.59283060G>C							p.L225L	NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN			1	675	+			225			Cytoplasmic (Potential).		Q6IFF3	Silent	SNP	ENST00000329328.3	37	c.675G>C	CCDS31564.1																																																																																				0.488	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1	NM_001004711		32	167	0	0	0	0	32	167				
MS4A3	932	broad.mit.edu	37	11	59829989	59829989	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:59829989C>T	ENST00000278865.3	+	3	278	c.205C>T	c.(205-207)Ctg>Ttg	p.L69L	MS4A3_ENST00000534744.1_Intron|MS4A3_ENST00000358152.2_Intron|MS4A3_ENST00000395032.2_Intron	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	69						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				GGGTGTCTTTCTGGGTTCCTT	0.453																																						uc001nom.2		NA																	0				ovary(2)|skin(1)	3						c.(205-207)CTG>TTG		membrane-spanning 4-domains, subfamily A, member							184.0	169.0	174.0					11																	59829989		2201	4295	6496	SO:0001819	synonymous_variant	932					endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity	g.chr11:59829989C>T	L35848	CCDS31567.1, CCDS31568.1, CCDS41651.1	11q12-q13.1	2008-03-25				ENSG00000149516			7317	protein-coding gene	gene with protein product		606498		CD20L		7524084	Standard	NM_006138		Approved	HTM4	uc001nom.3	Q96HJ5		ENST00000278865.3:c.205C>T	11.37:g.59829989C>T						MS4A3_uc001non.2_Intron|MS4A3_uc001noo.2_Intron	p.L69L	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN			3	333	+		all_epithelial(135;0.245)	69			Helical; (Potential).		A8MTP8|Q8NHW2	Silent	SNP	ENST00000278865.3	37	c.205C>T	CCDS31567.1																																																																																				0.453	MS4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394417.1			25	102	0	0	0	0	25	102				
MS4A14	84689	broad.mit.edu	37	11	60183118	60183118	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:60183118G>C	ENST00000300187.6	+	5	954	c.677G>C	c.(676-678)aGa>aCa	p.R226T	MS4A14_ENST00000531787.1_Missense_Mutation_p.R114T|MS4A14_ENST00000395005.2_Missense_Mutation_p.R209T|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531783.1_Missense_Mutation_p.R259T	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	226						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						AATAAAGGTAGAGAATTTGTG	0.403																																						uc001npj.2		NA																	0				breast(1)	1						c.(676-678)AGA>ACA		membrane-spanning 4-domains, subfamily A, member							94.0	95.0	95.0					11																	60183118		2203	4300	6503	SO:0001583	missense	84689					integral to membrane	receptor activity	g.chr11:60183118G>C	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.677G>C	11.37:g.60183118G>C	ENSP00000300187:p.Arg226Thr					MS4A14_uc001npi.2_Missense_Mutation_p.R114T|MS4A14_uc001npn.2_5'UTR|MS4A14_uc001npk.2_Missense_Mutation_p.R209T|MS4A14_uc001npl.2_5'UTR|MS4A14_uc001npm.2_5'UTR	p.R226T	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			5	1242	+			226					E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	c.677G>C	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.809191	0.00074	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.28255	1.62;2.85;1.64;3.21	3.24	-6.48	0.01896	.	13.658700	0.00166	N	0.000000	T	0.11024	0.0269	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31024	-0.9958	10	0.02654	T	1	.	3.0226	0.06080	0.2456:0.33:0.3275:0.0969	.	209;226	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	T	114;226;209;259	ENSP00000437222:R114T;ENSP00000300187:R226T;ENSP00000378453:R209T;ENSP00000433761:R259T	ENSP00000300187:R226T	R	+	2	0	MS4A14	59939694	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.000000	0.12993	-2.537000	0.00488	-3.853000	0.00018	AGA		0.403	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			22	87	0	0	0	0	22	87				
MS4A14	84689	broad.mit.edu	37	11	60183186	60183186	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:60183186G>A	ENST00000300187.6	+	5	1022	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	MS4A14_ENST00000531787.1_Missense_Mutation_p.E137K|MS4A14_ENST00000395005.2_Missense_Mutation_p.E232K|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531783.1_Missense_Mutation_p.E282K	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	249						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GGAAGAAATTGAACCTTTGCC	0.383																																						uc001npj.2		NA																	0				breast(1)	1						c.(745-747)GAA>AAA		membrane-spanning 4-domains, subfamily A, member							66.0	65.0	65.0					11																	60183186		2203	4299	6502	SO:0001583	missense	84689					integral to membrane	receptor activity	g.chr11:60183186G>A	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.745G>A	11.37:g.60183186G>A	ENSP00000300187:p.Glu249Lys					MS4A14_uc001npi.2_Missense_Mutation_p.E137K|MS4A14_uc001npn.2_5'UTR|MS4A14_uc001npk.2_Missense_Mutation_p.E232K|MS4A14_uc001npl.2_5'UTR|MS4A14_uc001npm.2_5'UTR	p.E249K	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			5	1310	+			249					E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	c.745G>A	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	G	6.099	0.386552	0.11524	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.28255	1.62;2.87;1.63;3.19	2.99	-0.226	0.13106	.	8.191570	0.00357	N	0.000022	T	0.15825	0.0381	N	0.08118	0	0.09310	N	1	B;B	0.27229	0.172;0.107	B;B	0.26614	0.071;0.032	T	0.12993	-1.0526	10	0.18276	T	0.48	-1.5938	5.3079	0.15813	0.4734:0.0:0.5266:0.0	.	232;249	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	K	137;249;232;282	ENSP00000437222:E137K;ENSP00000300187:E249K;ENSP00000378453:E232K;ENSP00000433761:E282K	ENSP00000300187:E249K	E	+	1	0	MS4A14	59939762	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	0.070000	0.14573	-0.040000	0.13580	0.460000	0.39030	GAA		0.383	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			11	91	0	0	0	0	11	91				
AHNAK	79026	broad.mit.edu	37	11	62287084	62287084	+	Silent	SNP	C	C	T	rs149805243		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:62287084C>T	ENST00000378024.4	-	5	15079	c.14805G>A	c.(14803-14805)ccG>ccA	p.P4935P	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4935					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTCTAACTTCGGACCTGAAA	0.458																																						uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(14803-14805)CCG>CCA		AHNAK nucleoprotein isoform 1		C	,	1,4403	2.1+/-5.4	0,1,2201	93.0	87.0	89.0		14805,	0.1	0.3	11	dbSNP_134	89	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,intron	AHNAK	NM_001620.1,NM_024060.2	,	0,2,6499	TT,TC,CC		0.0116,0.0227,0.0154	,	4935/5891,	62287084	2,13000	2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62287084C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.14805G>A	11.37:g.62287084C>T						AHNAK_uc001ntk.1_Intron	p.P4935P	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	15105	-		Melanoma(852;0.155)	4935					A1A586	Silent	SNP	ENST00000378024.4	37	c.14805G>A	CCDS31584.1																																																																																				0.458	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		24	118	0	0	0	0	24	118				
COX8A	1351	broad.mit.edu	37	11	63743743	63743743	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:63743743C>T	ENST00000314133.3	+	2	235	c.161C>T	c.(160-162)cCa>cTa	p.P54L	AP000721.4_ENST00000535431.1_Intron	NM_004074.2	NP_004065.1	P10176	COX8A_HUMAN	cytochrome c oxidase subunit VIIIA (ubiquitous)	54					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cytochrome-c oxidase activity (GO:0004129)										TTCCTCCTGCCAGCGGGCTGG	0.597																																						uc001nye.2		NA																	0					0						c.(160-162)CCA>CTA		cytochrome c oxidase subunit VIIIa precursor							228.0	182.0	197.0					11																	63743743		2201	4297	6498	SO:0001583	missense	1351				respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity	g.chr11:63743743C>T	J04823	CCDS8054.1	11q12-q13	2011-07-04	2010-04-27	2004-03-24	ENSG00000176340	ENSG00000176340	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2294	protein-coding gene	gene with protein product		123870	"""cytochrome c oxidase subunit VIII"", ""cytochrome c oxidase subunit 8A (ubiquitous)"""	COX8		2543673, 2847943	Standard	NM_004074		Approved	COX8-2, COX8L, VIII-L, COX, VIII	uc001nye.3	P10176	OTTHUMG00000167785	ENST00000314133.3:c.161C>T	11.37:g.63743743C>T	ENSP00000321260:p.Pro54Leu						p.P54L	NM_004074	NP_004065	P10176	COX8A_HUMAN			2	235	+			54			Helical; (By similarity).		P15955	Missense_Mutation	SNP	ENST00000314133.3	37	c.161C>T	CCDS8054.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910273	0.52439	.	.	ENSG00000176340	ENST00000314133	.	.	.	5.75	4.85	0.62838	Cytochrome c oxidase subunit VIII/photosystem I reaction centre subunit IX (1);	0.000000	0.85682	D	0.000000	T	0.55529	0.1926	.	.	.	0.49299	D	0.999772	P	0.34757	0.467	B	0.39119	0.291	T	0.59747	-0.7396	8	0.87932	D	0	-15.8174	10.8106	0.46545	0.0:0.9135:0.0:0.0865	.	54	P10176	COX8A_HUMAN	L	54	.	ENSP00000321260:P54L	P	+	2	0	COX8A	63500319	0.968000	0.33430	0.862000	0.33874	0.034000	0.12701	2.365000	0.44196	1.444000	0.47605	0.655000	0.94253	CCA		0.597	COX8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396273.1	NM_004074		100	135	0	0	0	0	100	135				
SCYL1	57410	broad.mit.edu	37	11	65293810	65293810	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:65293810C>T	ENST00000270176.5	+	4	668	c.591C>T	c.(589-591)gtC>gtT	p.V197V	SCYL1_ENST00000527009.1_Silent_p.V54V|SCYL1_ENST00000524944.1_Silent_p.V197V|SCYL1_ENST00000525364.1_Silent_p.V197V|SCYL1_ENST00000279270.6_Silent_p.V197V|SCYL1_ENST00000420247.2_Silent_p.V197V|SCYL1_ENST00000533862.1_Silent_p.V197V	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	197	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						GCAGAGTGGTCAGAGAGAAGT	0.662																																						uc001oea.1		NA																	0				skin(1)	1						c.(589-591)GTC>GTT		SCY1-like 1 isoform A							18.0	21.0	20.0					11																	65293810		2101	4228	6329	SO:0001819	synonymous_variant	57410				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity	g.chr11:65293810C>T	AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"""teratoma-associated tyrosine kinase"", ""telomerase transcriptional elements-interacting factor"", ""telomerase regulation-associated protein"""	607982	"""N-terminal kinase-like"""	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.591C>T	11.37:g.65293810C>T						SCYL1_uc009yqk.2_Silent_p.V197V|SCYL1_uc001oeb.1_Silent_p.V197V|SCYL1_uc001oec.1_Silent_p.V197V|SCYL1_uc001oed.1_Silent_p.V54V	p.V197V	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN			4	668	+			197			Protein kinase.		A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Silent	SNP	ENST00000270176.5	37	c.591C>T	CCDS41672.1																																																																																				0.662	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680		5	33	0	0	0	0	5	33				
CTSF	8722	broad.mit.edu	37	11	66328070	66328070	+	IGR	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:66328070C>G	ENST00000310325.5	-	0	2035				ACTN3_ENST00000502692.1_RNA|ACTN3_ENST00000513398.1_RNA|CTD-3074O7.2_ENST00000504911.1_lincRNA	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						ACGATCAGTTCAAGGCAACAC	0.607																																						uc001oio.1		NA																	0					0						c.(1702-1704)TTC>TTG		actinin, alpha 3							57.0	63.0	61.0					11																	66328070		2169	4275	6444	SO:0001628	intergenic_variant	89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66328070C>G	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090		11.37:g.66328070C>G						ACTN3_uc010rpi.1_RNA	p.F568L	NM_001104	NP_001095	Q08043	ACTN3_HUMAN			15	1722	+			568			Spectrin 3.		B2R964|O95240|Q9NSU4|Q9UKQ5	Missense_Mutation	SNP	ENST00000310325.5	37	c.1704C>G	CCDS8144.1																																																																																				0.607	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		19	37	0	0	0	0	19	37				
LRP5	4041	broad.mit.edu	37	11	68179074	68179074	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:68179074C>T	ENST00000294304.7	+	11	2595	c.2489C>T	c.(2488-2490)tCg>tTg	p.S830L		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	830	Beta-propeller 3.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATGATCGAGTCGTCCAACATG	0.657																																						uc001ont.2		NA																	0				lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						c.(2488-2490)TCG>TTG		low density lipoprotein receptor-related protein							61.0	46.0	51.0					11																	68179074		2200	4294	6494	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68179074C>T	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.2489C>T	11.37:g.68179074C>T	ENSP00000294304:p.Ser830Leu					LRP5_uc009ysg.2_Missense_Mutation_p.S240L	p.S830L	NM_002335	NP_002326	O75197	LRP5_HUMAN			11	2564	+			830			LDL-receptor class B 14.|Beta-propeller 3.|Extracellular (Potential).		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.2489C>T	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.711942	0.89112	.	.	ENSG00000162337	ENST00000294304	D	0.96396	-4.0	4.63	4.63	0.57726	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.44688	U	0.000424	D	0.98473	0.9491	M	0.91038	3.17	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	D	0.99406	1.0929	10	0.72032	D	0.01	.	18.0153	0.89238	0.0:1.0:0.0:0.0	.	830;830	Q9UES7;O75197	.;LRP5_HUMAN	L	830	ENSP00000294304:S830L	ENSP00000294304:S830L	S	+	2	0	LRP5	67935650	0.973000	0.33851	0.924000	0.36721	0.998000	0.95712	2.403000	0.44530	2.554000	0.86153	0.561000	0.74099	TCG		0.657	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		5	56	0	0	0	0	5	56				
ANO1	55107	broad.mit.edu	37	11	70028776	70028776	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:70028776G>A	ENST00000355303.5	+	24	2877	c.2572G>A	c.(2572-2574)Gag>Aag	p.E858K	ANO1_ENST00000530676.1_Missense_Mutation_p.E712K|ANO1_ENST00000525494.1_3'UTR|ANO1_ENST00000398543.2_Missense_Mutation_p.E712K|ANO1_ENST00000531349.1_Missense_Mutation_p.E567K|ANO1_ENST00000538023.1_Missense_Mutation_p.E858K	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	858					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	CCTGGGCTACGAGGTGCAGAT	0.587																																						uc001opj.2		NA																	0				ovary(1)|pancreas(1)	2						c.(2572-2574)GAG>AAG		anoctamin 1, calcium activated chloride channel							78.0	80.0	79.0					11																	70028776		1955	4135	6090	SO:0001583	missense	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:70028776G>A	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.2572G>A	11.37:g.70028776G>A	ENSP00000347454:p.Glu858Lys					ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.E567K|ANO1_uc010rql.1_Missense_Mutation_p.E32K	p.E858K	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN			24	2877	+			858			Extracellular (Potential).		A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	c.2572G>A	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.762118	0.31228	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000530676;ENST00000531349;ENST00000539321	T;T;T;T;T	0.70631	-0.07;-0.16;-0.5;-0.5;-0.2	4.71	4.71	0.59529	.	0.507496	0.21661	N	0.071014	T	0.54581	0.1867	L	0.28115	0.83	0.34618	D	0.718347	B;B	0.18166	0.026;0.021	B;B	0.15870	0.014;0.009	T	0.58763	-0.7579	9	.	.	.	.	10.3189	0.43753	0.0908:0.0:0.9092:0.0	.	567;858	E9PNA7;Q5XXA6	.;ANO1_HUMAN	K	858;858;712;616;712;567;185	ENSP00000347454:E858K;ENSP00000444689:E858K;ENSP00000381551:E712K;ENSP00000435797:E712K;ENSP00000432843:E567K	.	E	+	1	0	ANO1	69706424	0.997000	0.39634	1.000000	0.80357	0.989000	0.77384	1.592000	0.36676	2.176000	0.68965	0.555000	0.69702	GAG		0.587	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		7	183	0	0	0	0	7	183				
PGR	5241	broad.mit.edu	37	11	100933223	100933223	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:100933223C>T	ENST00000325455.5	-	4	3620	c.2167G>A	c.(2167-2169)Gag>Aag	p.E723K	PGR_ENST00000263463.5_Intron|PGR_ENST00000534013.1_Missense_Mutation_p.E129K	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	723	Steroid-binding.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|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)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	AGTTGCCTCTCGCCTAGTTGA	0.358																																					Pancreas(124;2271 2354 21954 22882)	uc001pgh.2		NA																	0				lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4						c.(2167-2169)GAG>AAG		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						167.0	155.0	159.0					11																	100933223		2203	4300	6503	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100933223C>T	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2167G>A	11.37:g.100933223C>T	ENSP00000325120:p.Glu723Lys					PGR_uc001pgg.2_Missense_Mutation_p.E104K|PGR_uc001pgi.2_Intron|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA	p.E723K	NM_000926	NP_000917	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	4	2910	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	723			Steroid-binding.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.2167G>A	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	C	34	5.355431	0.95854	.	.	ENSG00000082175	ENST00000325455;ENST00000534013	D;D	0.97186	-4.28;-4.28	5.97	5.97	0.96955	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98707	0.9566	M	0.86420	2.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	D	0.99187	1.0869	10	0.87932	D	0	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	723;104	P06401;A7LQ08	PRGR_HUMAN;.	K	723;129	ENSP00000325120:E723K;ENSP00000436561:E129K	ENSP00000325120:E723K	E	-	1	0	PGR	100438433	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.478000	0.81082	2.836000	0.97738	0.655000	0.94253	GAG		0.358	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			26	56	0	0	0	0	26	56				
RNF214	257160	broad.mit.edu	37	11	117110556	117110556	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:117110556C>T	ENST00000531452.1	+	4	704	c.658C>T	c.(658-660)Caa>Taa	p.Q220*	RNF214_ENST00000300650.4_Nonsense_Mutation_p.Q220*|RNF214_ENST00000531287.1_Nonsense_Mutation_p.Q65*|RNF214_ENST00000530849.1_Nonsense_Mutation_p.Q65*	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	220							zinc ion binding (GO:0008270)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		AAACACAGATCAAGATATTGA	0.318																																						uc001pqt.2		NA																	0					0						c.(658-660)CAA>TAA		ring finger protein 214							73.0	70.0	71.0					11																	117110556		1814	4073	5887	SO:0001587	stop_gained	257160						zinc ion binding	g.chr11:117110556C>T	AL834448	CCDS41720.1, CCDS60976.1	11q23.3	2014-02-12	2007-02-16		ENSG00000167257	ENSG00000167257		"""RING-type (C3HC4) zinc fingers"""	25335	protein-coding gene	gene with protein product							Standard	NM_001077239		Approved	DKFZp547C195	uc001pqt.4	Q8ND24	OTTHUMG00000167069	ENST00000531452.1:c.658C>T	11.37:g.117110556C>T	ENSP00000431643:p.Gln220*					RNF214_uc001pqu.2_Nonsense_Mutation_p.Q220*|RNF214_uc010rxf.1_Nonsense_Mutation_p.Q65*	p.Q220*	NM_207343	NP_997226	Q8ND24	RN214_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)	4	703	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	220			Potential.		B2RUW0|B4DTD1	Nonsense_Mutation	SNP	ENST00000531452.1	37	c.658C>T	CCDS41720.1	.	.	.	.	.	.	.	.	.	.	C	34	5.396122	0.96009	.	.	ENSG00000167257	ENST00000531287;ENST00000531452;ENST00000530849;ENST00000300650	.	.	.	5.96	5.96	0.96718	.	0.224065	0.39544	N	0.001338	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-0.4666	14.2673	0.66126	0.1486:0.8514:0.0:0.0	.	.	.	.	X	65;220;65;220	.	ENSP00000300650:Q220X	Q	+	1	0	RNF214	116615766	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.265000	0.51561	2.831000	0.97527	0.650000	0.86243	CAA		0.318	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392884.1	NM_001077239		6	17	0	0	0	0	6	17				
CACNA1C	775	broad.mit.edu	37	12	2693722	2693722	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:2693722G>A	ENST00000347598.4	+	16	2278	c.2278G>A	c.(2278-2280)Gag>Aag	p.E760K	CACNA1C_ENST00000327702.7_Missense_Mutation_p.E760K|CACNA1C_ENST00000399601.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000399634.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000399644.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000399591.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000402845.3_Missense_Mutation_p.E760K|CACNA1C_ENST00000399603.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000406454.3_Missense_Mutation_p.E760K|CACNA1C_ENST00000399621.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000344100.3_Missense_Mutation_p.E760K|CACNA1C_ENST00000399655.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000399641.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000399637.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000399597.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000399595.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000399629.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000399606.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000399617.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000335762.5_Missense_Mutation_p.E785K|CACNA1C_ENST00000399638.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000480911.1_Missense_Mutation_p.E760K|CACNA1C_ENST00000399649.1_Missense_Mutation_p.E760K	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	760					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGCTGATGCTGAGAGCCTCAC	0.512																																						uc009zdu.1		NA																	0				ovary(10)|central_nervous_system(1)	11						c.(2278-2280)GAG>AAG		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						69.0	74.0	73.0					12																	2693722		2016	4204	6220	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2693722G>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.2278G>A	12.37:g.2693722G>A	ENSP00000266376:p.Glu760Lys					CACNA1C_uc009zdv.1_Missense_Mutation_p.E757K|CACNA1C_uc001qkb.2_Missense_Mutation_p.E760K|CACNA1C_uc001qkc.2_Missense_Mutation_p.E760K|CACNA1C_uc001qke.2_Missense_Mutation_p.E760K|CACNA1C_uc001qkf.2_Missense_Mutation_p.E760K|CACNA1C_uc001qjz.2_Missense_Mutation_p.E760K|CACNA1C_uc001qkd.2_Missense_Mutation_p.E760K|CACNA1C_uc001qkg.2_Missense_Mutation_p.E760K|CACNA1C_uc009zdw.1_Missense_Mutation_p.E760K|CACNA1C_uc001qkh.2_Missense_Mutation_p.E760K|CACNA1C_uc001qkl.2_Missense_Mutation_p.E760K|CACNA1C_uc001qkn.2_Missense_Mutation_p.E760K|CACNA1C_uc001qko.2_Missense_Mutation_p.E760K|CACNA1C_uc001qkp.2_Missense_Mutation_p.E760K|CACNA1C_uc001qkr.2_Missense_Mutation_p.E760K|CACNA1C_uc001qku.2_Missense_Mutation_p.E760K|CACNA1C_uc001qkq.2_Missense_Mutation_p.E760K|CACNA1C_uc001qks.2_Missense_Mutation_p.E760K|CACNA1C_uc001qkt.2_Missense_Mutation_p.E760K|CACNA1C_uc001qka.1_Missense_Mutation_p.E295K|CACNA1C_uc001qki.1_Missense_Mutation_p.E496K|CACNA1C_uc001qkj.1_Missense_Mutation_p.E496K|CACNA1C_uc001qkk.1_Missense_Mutation_p.E496K|CACNA1C_uc001qkm.1_Missense_Mutation_p.E496K|CACNA1C_uc001qkw.2_Missense_Mutation_p.E49K	p.E760K	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	16	2591	+			760			Cytoplasmic (Potential).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.2278G>A	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	32	5.178177	0.94846	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96885	-4.1;-4.1;-4.05;-4.11;-4.09;-4.1;-4.12;-4.03;-4.05;-4.1;-4.02;-4.02;-4.1;-4.15;-4.03;-3.96;-4.16;-4.12;-4.09;-4.13;-4.03;-4.13;-4.15	4.71	4.71	0.59529	.	0.051309	0.85682	D	0.000000	D	0.97971	0.9332	M	0.76838	2.35	0.80722	D	1	D;D;P;D;D;D;D;D;P;D;D;D;D;D;D;D;D;P;D;P;D;D;D;D;D;D	0.89917	0.996;0.998;0.82;0.982;0.993;0.999;0.998;0.999;0.887;1.0;0.999;0.998;0.984;0.998;0.997;0.998;0.99;0.887;0.999;0.925;0.99;0.999;0.999;0.998;0.974;0.998	D;D;P;D;D;D;D;D;P;D;D;D;P;D;D;D;D;P;D;P;D;D;D;D;D;D	0.83275	0.99;0.941;0.566;0.952;0.99;0.996;0.991;0.996;0.749;0.987;0.996;0.991;0.888;0.996;0.98;0.991;0.979;0.749;0.996;0.666;0.979;0.996;0.996;0.991;0.969;0.991	D	0.98640	1.0675	10	0.62326	D	0.03	.	17.8449	0.88727	0.0:0.0:1.0:0.0	.	760;757;760;760;760;760;760;760;760;760;760;760;731;760;760;760;760;760;760;760;760;760;760;760;760;760	Q13936-14;Q13936-35;Q13936;E9PDI6;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	K	785;760;760;760;760;760;760;760;760;760;760;760;760;760;760;760;760;760;760;760;760;760;760;601	ENSP00000336982:E785K;ENSP00000382563:E760K;ENSP00000437936:E760K;ENSP00000382552:E760K;ENSP00000382547:E760K;ENSP00000382506:E760K;ENSP00000382530:E760K;ENSP00000382546:E760K;ENSP00000382500:E760K;ENSP00000382549:E760K;ENSP00000266376:E760K;ENSP00000382515:E760K;ENSP00000382510:E760K;ENSP00000341092:E760K;ENSP00000382537:E760K;ENSP00000329877:E760K;ENSP00000382557:E760K;ENSP00000385724:E760K;ENSP00000382512:E760K;ENSP00000382542:E760K;ENSP00000382526:E760K;ENSP00000385896:E760K;ENSP00000382504:E760K	ENSP00000323129:E601K	E	+	1	0	CACNA1C	2563983	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.633000	0.98432	2.452000	0.82932	0.561000	0.74099	GAG		0.512	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		13	45	0	0	0	0	13	45				
CASC1	55259	broad.mit.edu	37	12	25274696	25274696	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:25274696C>T	ENST00000320267.9	-	10	1293	c.1212G>A	c.(1210-1212)atG>atA	p.M404I	CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000545133.1_Missense_Mutation_p.M345I|CASC1_ENST00000354189.5_Missense_Mutation_p.M468I|CASC1_ENST00000395990.2_Missense_Mutation_p.M364I|CASC1_ENST00000537577.1_Missense_Mutation_p.M292I|CASC1_ENST00000395987.3_Missense_Mutation_p.M410I	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	404										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			CTTCCACAATCATCCATCCCT	0.353																																						uc001rgl.2		NA																	0				ovary(2)	2						c.(1210-1212)ATG>ATA		cancer susceptibility candidate 1 isoform b							90.0	87.0	88.0					12																	25274696		2203	4300	6503	SO:0001583	missense	55259							g.chr12:25274696C>T	AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.1212G>A	12.37:g.25274696C>T	ENSP00000313141:p.Met404Ile					CASC1_uc001rgk.2_Missense_Mutation_p.M410I|CASC1_uc001rgm.3_Missense_Mutation_p.M468I|CASC1_uc001rgj.2_Missense_Mutation_p.M364I|CASC1_uc010sje.1_Missense_Mutation_p.M345I|CASC1_uc010sjf.1_Missense_Mutation_p.M292I|CASC1_uc010sjg.1_Missense_Mutation_p.M404I	p.M404I	NM_001082973	NP_001076442	Q6TDU7	CASC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)		10	1294	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		404					B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	37	c.1212G>A	CCDS41762.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.158|8.158	0.788912|0.788912	0.16258|0.16258	.|.	.|.	ENSG00000118307|ENSG00000118307	ENST00000556006|ENST00000354189;ENST00000395987;ENST00000320267;ENST00000395990;ENST00000537577;ENST00000395992;ENST00000545133;ENST00000389246	.|T;T;T;T;T	.|0.38401	.|1.14;1.74;1.74;1.16;1.15	4.87|4.87	0.142|0.142	0.14816|0.14816	.|Casc1 domain (1);	.|0.672516	.|0.15817	.|N	.|0.243191	T|T	0.23410|0.23410	0.0566|0.0566	L|L	0.50919|0.50919	1.6|1.6	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.15141	.|0.001;0.005;0.012;0.006;0.005	.|B;B;B;B;B	.|0.12837	.|0.007;0.004;0.007;0.008;0.004	T|T	0.17806|0.17806	-1.0357|-1.0357	5|10	.|0.18710	.|T	.|0.47	-5.4198|-5.4198	1.9109|1.9109	0.03287|0.03287	0.1421:0.3017:0.3644:0.1917|0.1421:0.3017:0.3644:0.1917	.|.	.|292;345;468;404;410	.|F5H555;F5H6T6;Q6TDU7-3;Q6TDU7;F8W8F9	.|.;.;.;CASC1_HUMAN;.	N|I	241|468;410;404;364;292;410;345;214	.|ENSP00000346126:M468I;ENSP00000379310:M410I;ENSP00000313141:M404I;ENSP00000379313:M364I;ENSP00000437373:M345I	.|ENSP00000313141:M404I	D|M	-|-	1|3	0|0	CASC1|CASC1	25165963|25165963	0.784000|0.784000	0.28713|0.28713	0.272000|0.272000	0.24630|0.24630	0.916000|0.916000	0.54674|0.54674	-0.374000|-0.374000	0.07484|0.07484	0.169000|0.169000	0.19679|0.19679	0.467000|0.467000	0.42956|0.42956	GAT|ATG		0.353	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272		22	46	0	0	0	0	22	46				
DENND5B	160518	broad.mit.edu	37	12	31555438	31555438	+	Silent	SNP	G	G	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:31555438G>T	ENST00000389082.5	-	15	3207	c.2943C>A	c.(2941-2943)acC>acA	p.T981T	DENND5B_ENST00000306833.6_Silent_p.T1016T|DENND5B_ENST00000536562.1_Silent_p.T1016T	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	981	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTACCTCAAAGGTCATTTCGA	0.398																																						uc001rki.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2941-2943)ACC>ACA		DENN/MADD domain containing 5B							167.0	162.0	164.0					12																	31555438		1858	4117	5975	SO:0001819	synonymous_variant	160518					integral to membrane		g.chr12:31555438G>T	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.2943C>A	12.37:g.31555438G>T						DENND5B_uc001rkh.1_Silent_p.T1016T|DENND5B_uc009zjq.1_Intron	p.T981T	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN			15	3129	-			981			PLAT.		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Silent	SNP	ENST00000389082.5	37	c.2943C>A	CCDS44857.1																																																																																				0.398	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		39	46	1	0	2.48e-24	2.69e-24	39	46				
LRRK2	120892	broad.mit.edu	37	12	40689444	40689444	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:40689444G>A	ENST00000298910.7	+	23	3152	c.3094G>A	c.(3094-3096)Gaa>Aaa	p.E1032K	LRRK2_ENST00000343742.2_Missense_Mutation_p.E1032K	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1032					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACAGCTATGTGAAGTAAATTT	0.343																																						uc001rmg.3		NA																	0				ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(3094-3096)GAA>AAA		leucine-rich repeat kinase 2							43.0	41.0	41.0					12																	40689444		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40689444G>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3094G>A	12.37:g.40689444G>A	ENSP00000298910:p.Glu1032Lys					LRRK2_uc001rmh.1_Missense_Mutation_p.E654K|LRRK2_uc009zjw.2_5'UTR	p.E1032K	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			23	3215	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1032			LRR 2.		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.3094G>A	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.792061	0.90453	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.56275	0.47;0.47	5.46	5.46	0.80206	.	0.241461	0.42420	D	0.000701	T	0.52108	0.1714	N	0.05592	-0.015	0.49798	D	0.999821	D;D	0.63880	0.979;0.993	D;P	0.63033	0.91;0.843	T	0.54735	-0.8249	10	0.25751	T	0.34	.	19.2952	0.94119	0.0:0.0:1.0:0.0	.	1032;1032	E9PC85;Q5S007	.;LRRK2_HUMAN	K	1032	ENSP00000341930:E1032K;ENSP00000298910:E1032K	ENSP00000298910:E1032K	E	+	1	0	LRRK2	38975711	1.000000	0.71417	0.992000	0.48379	0.985000	0.73830	7.039000	0.76544	2.557000	0.86248	0.591000	0.81541	GAA		0.343	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		5	29	0	0	0	0	5	29				
PDZRN4	29951	broad.mit.edu	37	12	41967475	41967475	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:41967475G>A	ENST00000402685.2	+	10	2902	c.2894G>A	c.(2893-2895)cGa>cAa	p.R965Q	PDZRN4_ENST00000539469.2_Missense_Mutation_p.R707Q|PDZRN4_ENST00000298919.7_Missense_Mutation_p.R705Q	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	965							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R707Q(2)|p.R965Q(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TTCATGATGCGAAGCAGGTTA	0.507																																						uc010skn.1		NA																	3	Substitution - Missense(3)		lung(2)|large_intestine(1)	lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11						c.(2296-2298)CGA>CAA		PDZ domain containing RING finger 4 isoform 2							69.0	64.0	66.0					12																	41967475		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41967475G>A	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2894G>A	12.37:g.41967475G>A	ENSP00000384197:p.Arg965Gln					PDZRN4_uc001rmq.3_Missense_Mutation_p.R707Q|PDZRN4_uc009zjz.2_Missense_Mutation_p.R705Q|PDZRN4_uc001rmr.2_Missense_Mutation_p.R592Q	p.R766Q	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN			10	2365	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	965					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.2297G>A	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	1.545	-0.540706	0.04053	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.75704	-0.96;-0.96;-0.96	4.9	4.9	0.64082	.	0.000000	0.64402	D	0.000001	T	0.40719	0.1128	N	0.00801	-1.175	0.80722	D	1	P;B;B	0.45986	0.87;0.032;0.032	B;B;B	0.36504	0.226;0.012;0.012	T	0.61387	-0.7073	10	0.02654	T	1	-25.0878	18.9769	0.92740	0.0:0.0:1.0:0.0	.	965;705;707	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	Q	965;707;705	ENSP00000384197:R965Q;ENSP00000439990:R707Q;ENSP00000298919:R705Q	ENSP00000298919:R705Q	R	+	2	0	PDZRN4	40253742	1.000000	0.71417	1.000000	0.80357	0.325000	0.28411	4.735000	0.62051	2.656000	0.90262	0.557000	0.71058	CGA		0.507	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		12	32	0	0	0	0	12	32				
KMT2D	8085	broad.mit.edu	37	12	49436573	49436573	+	Silent	SNP	G	G	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:49436573G>T	ENST00000301067.7	-	26	5732	c.5733C>A	c.(5731-5733)acC>acA	p.T1911T		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1911					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CTAGGCCAGGGGTTCCACAAC	0.542																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(5731-5733)ACC>ACA		myeloid/lymphoid or mixed-lineage leukemia 2							113.0	111.0	112.0					12																	49436573		2055	4206	6261	SO:0001819	synonymous_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49436573G>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.5733C>A	12.37:g.49436573G>T		HNSCC(34;0.089)					p.T1911T	NM_003482	NP_003473	O14686	MLL2_HUMAN			26	5733	-			1911					O14687	Silent	SNP	ENST00000301067.7	37	c.5733C>A	CCDS44873.1																																																																																				0.542	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			24	58	1	0	1.66e-10	1.78e-10	24	58				
METTL21B	25895	broad.mit.edu	37	12	58163602	58163602	+	5'Flank	SNP	G	G	A	rs372769807		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:58163602G>A	ENST00000300209.8	+	0	0				METTL21B_ENST00000333012.5_5'Flank|METTL21B_ENST00000551420.1_5'Flank|METTL1_ENST00000257848.7_Intron|CYP27B1_ENST00000228606.4_5'Flank|METTL1_ENST00000548681.1_5'Flank|METTL21B_ENST00000548256.1_5'Flank|METTL1_ENST00000324871.7_Missense_Mutation_p.R138C	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B							cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)			endometrium(1)|lung(1)	2						GCATTGCTACGGAGACAGGCG	0.607																																						uc010ssd.1		NA																	0					0						c.(412-414)CGT>TGT		methyltransferase-like protein 1 isoform a		G	CYS/ARG,	0,4406		0,0,2203	71.0	64.0	66.0		412,	5.1	1.0	12		66	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron	METTL1	NM_005371.5,NM_023033.3	180,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,	138/277,	58163602	1,13005	2203	4300	6503	SO:0001631	upstream_gene_variant	4234					cytoplasm|nucleus	protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding	g.chr12:58163602G>A	AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"""family with sequence similarity 119, member B"""	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459		12.37:g.58163602G>A	Exception_encountered					CYP27B1_uc001spz.1_5'Flank|CYP27B1_uc001sqa.1_5'Flank|METTL1_uc009zqc.2_Intron|FAM119B_uc001sqf.2_5'Flank|FAM119B_uc001sqg.2_5'Flank|FAM119B_uc009zqd.2_5'Flank	p.R138C	NM_005371	NP_005362	Q9UBP6	TRMB_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.211)		3	460	-	all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		138					Q9H749|Q9Y3W2	Missense_Mutation	SNP	ENST00000300209.8	37	c.412C>T	CCDS8957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.2|27.2	4.805401|4.805401	0.90623|0.90623	0.0|0.0	1.16E-4|1.16E-4	ENSG00000037897|ENSG00000037897	ENST00000548504|ENST00000324871	.|T	.|0.41758	.|0.99	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	.|0.056924	.|0.64402	.|D	.|0.000001	T|T	0.69296|0.69296	0.3095|0.3095	M|M	0.91768|0.91768	3.24|3.24	0.80722|0.80722	D|D	1|1	.|D	.|0.62365	.|0.991	.|P	.|0.61070	.|0.883	T|T	0.76913|0.76913	-0.2783|-0.2783	5|10	.|0.54805	.|T	.|0.06	-9.9812|-9.9812	17.2233|17.2233	0.86963|0.86963	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|138	.|Q9UBP6	.|TRMB_HUMAN	L|C	16|138	.|ENSP00000314441:R138C	.|ENSP00000314441:R138C	P|R	-|-	2|1	0|0	METTL1|METTL1	56449869|56449869	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.969000|0.969000	0.65631|0.65631	5.426000|5.426000	0.66476|0.66476	2.353000|2.353000	0.79882|0.79882	0.655000|0.655000	0.94253|0.94253	CCG|CGT		0.607	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409268.1	NM_015433		7	31	0	0	0	0	7	31				
SRGAP1	57522	broad.mit.edu	37	12	64383777	64383777	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:64383777G>C	ENST00000355086.3	+	3	875	c.351G>C	c.(349-351)ttG>ttC	p.L117F	SRGAP1_ENST00000357825.3_Missense_Mutation_p.L117F|SRGAP1_ENST00000543397.1_Missense_Mutation_p.L77F	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	117	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ATGCAACCTTGAGTGACATCT	0.423																																						uc010ssp.1		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(349-351)TTG>TTC		SLIT-ROBO Rho GTPase activating protein 1							214.0	177.0	189.0					12																	64383777		2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64383777G>C	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.351G>C	12.37:g.64383777G>C	ENSP00000347198:p.Leu117Phe					SRGAP1_uc001srt.2_Missense_Mutation_p.L117F|SRGAP1_uc001srv.2_Missense_Mutation_p.L77F	p.L117F	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	3	407	+			117					Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.351G>C	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798403	0.70567	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.18657	2.2;2.2;2.2	5.61	4.71	0.59529	Fps/Fes/Fer/CIP4 homology (2);	0.000000	0.29473	U	0.012041	T	0.40322	0.1112	M	0.69185	2.1	0.80722	D	1	P;P;D	0.69078	0.95;0.939;0.997	D;P;D	0.66497	0.928;0.721;0.944	T	0.04723	-1.0931	9	.	.	.	.	11.8088	0.52171	0.1385:0.0:0.8615:0.0	.	117;77;117	Q7Z6B7;G5EA48;Q7Z6B7-2	SRGP1_HUMAN;.;.	F	117;117;77	ENSP00000347198:L117F;ENSP00000350480:L117F;ENSP00000437948:L77F	.	L	+	3	2	SRGAP1	62670044	1.000000	0.71417	0.997000	0.53966	0.902000	0.53008	0.972000	0.29409	2.816000	0.96949	0.561000	0.74099	TTG		0.423	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			28	63	0	0	0	0	28	63				
DDX54	79039	broad.mit.edu	37	12	113599751	113599751	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:113599751C>G	ENST00000306014.5	-	18	2274	c.2247G>C	c.(2245-2247)aaG>aaC	p.K749N	DDX54_ENST00000549271.1_5'Flank|DDX54_ENST00000314045.7_Missense_Mutation_p.K749N	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	749					ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCTTAATCTTCTTCTTGTCTT	0.602																																						uc001tup.2		NA																	0				skin(2)|central_nervous_system(1)	3						c.(2245-2247)AAG>AAC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 54							188.0	164.0	172.0					12																	113599751		2203	4300	6503	SO:0001583	missense	79039				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity	g.chr12:113599751C>G	AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"""DEAD-boxes"""	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.2247G>C	12.37:g.113599751C>G	ENSP00000304072:p.Lys749Asn					DDX54_uc001tuq.3_Missense_Mutation_p.K749N	p.K749N	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN			18	2275	-			749					Q86YT8|Q9BRZ1	Missense_Mutation	SNP	ENST00000306014.5	37	c.2247G>C	CCDS31907.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.68|17.68	3.449196|3.449196	0.63178|0.63178	.|.	.|.	ENSG00000123064|ENSG00000123064	ENST00000546898|ENST00000314045;ENST00000306014	.|T;T	.|0.14022	.|2.54;2.54	4.74|4.74	0.667|0.667	0.17907|0.17907	.|DBP10CT (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.26557|0.26557	0.0649|0.0649	M|M	0.72479|0.72479	2.2|2.2	0.58432|0.58432	D|D	0.999991|0.999991	.|D;D	.|0.56746	.|0.972;0.977	.|P;P	.|0.61722	.|0.828;0.893	T|T	0.01136|0.01136	-1.1440|-1.1440	5|10	.|0.37606	.|T	.|0.19	.|.	8.3002|8.3002	0.32010|0.32010	0.0:0.6439:0.0:0.3561|0.0:0.6439:0.0:0.3561	.|.	.|749;749	.|Q8TDD1-2;Q8TDD1	.|.;DDX54_HUMAN	Q|N	152|749	.|ENSP00000323858:K749N;ENSP00000304072:K749N	.|ENSP00000304072:K749N	E|K	-|-	1|3	0|2	DDX54|DDX54	112084134|112084134	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.942000|0.942000	0.58702|0.58702	1.682000|1.682000	0.37628|0.37628	0.063000|0.063000	0.16370|0.16370	0.491000|0.491000	0.48974|0.48974	GAA|AAG		0.602	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072		40	100	0	0	0	0	40	100				
RNF10	9921	broad.mit.edu	37	12	120995255	120995255	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:120995255G>C	ENST00000325954.4	+	5	1277	c.816G>C	c.(814-816)aaG>aaC	p.K272N	RNF10_ENST00000413266.2_Missense_Mutation_p.K272N	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	272					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGTGCATAAGAAGGATCTCA	0.443																																						uc001typ.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(814-816)AAG>AAC		ring finger protein 10							198.0	173.0	182.0					12																	120995255		2203	4300	6503	SO:0001583	missense	9921				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:120995255G>C	AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.816G>C	12.37:g.120995255G>C	ENSP00000322242:p.Lys272Asn					RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Missense_Mutation_p.K178N	p.K272N	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN			5	1299	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		272					Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	ENST00000325954.4	37	c.816G>C	CCDS9201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.60|15.60	2.882075|2.882075	0.51908|0.51908	.|.	.|.	ENSG00000022840|ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266|ENST00000542207;ENST00000541955	T;T|.	0.68331|.	-0.32;-0.32|.	5.74|5.74	5.74|5.74	0.90152|0.90152	Zinc finger, RING/FYVE/PHD-type (1);|.	0.098510|.	0.64402|.	D|.	0.000001|.	T|T	0.72748|0.72748	0.3499|0.3499	M|M	0.71036|0.71036	2.16|2.16	0.44862|0.44862	D|D	0.997875|0.997875	P;P|.	0.43352|.	0.804;0.514|.	P;B|.	0.44897|.	0.463;0.197|.	T|T	0.71421|0.71421	-0.4598|-0.4598	10|5	0.22706|.	T|.	0.39|.	.|.	13.5017|13.5017	0.61459|0.61459	0.0714:0.0:0.9286:0.0|0.0714:0.0:0.9286:0.0	.|.	272;272|.	Q8N5U6-2;Q8N5U6|.	.;RNF10_HUMAN|.	N|T	272|70;65	ENSP00000322242:K272N;ENSP00000415682:K272N|.	ENSP00000322242:K272N|.	K|R	+|+	3|2	2|0	RNF10|RNF10	119479638|119479638	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.932000|1.932000	0.40143|0.40143	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	AAG|AGA		0.443	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4			34	81	0	0	0	0	34	81				
RNF10	9921	broad.mit.edu	37	12	120995384	120995384	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:120995384G>A	ENST00000325954.4	+	6	1327	c.866G>A	c.(865-867)gGt>gAt	p.G289D	RNF10_ENST00000413266.2_Missense_Mutation_p.G289D	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	289					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TATGTTGTTGGTGATACCATT	0.448																																						uc001typ.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(865-867)GGT>GAT		ring finger protein 10							343.0	281.0	302.0					12																	120995384		2203	4300	6503	SO:0001583	missense	9921				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:120995384G>A	AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.866G>A	12.37:g.120995384G>A	ENSP00000322242:p.Gly289Asp					RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Missense_Mutation_p.G195D	p.G289D	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN			6	1349	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		289					Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	ENST00000325954.4	37	c.866G>A	CCDS9201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.0|26.0	4.698569|4.698569	0.88830|0.88830	.|.	.|.	ENSG00000022840|ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266|ENST00000542207;ENST00000541955	D;D|.	0.93019|.	-3.15;-3.14|.	6.04|6.04	5.15|5.15	0.70609|0.70609	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72614|0.72614	0.3482|0.3482	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.999|.	T|T	0.70626|0.70626	-0.4820|-0.4820	10|5	0.87932|.	D|.	0|.	.|.	15.7475|15.7475	0.77958|0.77958	0.0661:0.0:0.9339:0.0|0.0661:0.0:0.9339:0.0	.|.	289;289|.	Q8N5U6-2;Q8N5U6|.	.;RNF10_HUMAN|.	D|M	289|87;82	ENSP00000322242:G289D;ENSP00000415682:G289D|.	ENSP00000322242:G289D|.	G|V	+|+	2|1	0|0	RNF10|RNF10	119479767|119479767	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	8.013000|8.013000	0.88655|0.88655	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	GGT|GTG		0.448	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4			31	109	0	0	0	0	31	109				
NCOR2	9612	broad.mit.edu	37	12	124957522	124957522	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:124957522C>T	ENST00000405201.1	-	4	567	c.567G>A	c.(565-567)caG>caA	p.Q189Q	NCOR2_ENST00000404621.1_Silent_p.Q189Q|NCOR2_ENST00000429285.2_Silent_p.Q189Q|NCOR2_ENST00000356219.3_Silent_p.Q189Q|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000397355.1_Silent_p.Q189Q			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	189					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCTTAGAGATCTGCTGCTCTA	0.577																																						uc010tba.1		NA																	0				skin(3)|ovary(1)	4						c.(565-567)CAG>CAA		nuclear receptor co-repressor 2 isoform 2							221.0	236.0	231.0					12																	124957522		2080	4221	6301	SO:0001819	synonymous_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124957522C>T	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.567G>A	12.37:g.124957522C>T						NCOR2_uc010tay.1_Silent_p.Q189Q|NCOR2_uc010taz.1_Silent_p.Q189Q|NCOR2_uc010tbb.1_Silent_p.Q189Q|NCOR2_uc010tbc.1_Silent_p.Q189Q|NCOR2_uc001ugj.1_Silent_p.Q189Q|NCOR2_uc001ugk.1_Silent_p.Q189Q	p.Q189Q	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	4	684	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		189			Potential.		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	c.567G>A	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	C	9.858	1.195559	0.22037	.	.	ENSG00000196498	ENST00000542927	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	T	0.64972	0.2647	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63346	-0.6658	4	.	.	.	-38.4622	13.1956	0.59736	0.0:0.9234:0.0:0.0766	.	.	.	.	K	112	.	.	R	-	2	0	NCOR2	123523475	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.843000	0.62838	2.456000	0.83038	0.561000	0.74099	AGA		0.577	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		30	77	0	0	0	0	30	77				
SLC15A4	121260	broad.mit.edu	37	12	129293444	129293444	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:129293444G>C	ENST00000266771.5	-	5	1186	c.1147C>G	c.(1147-1149)Ctg>Gtg	p.L383V	SLC15A4_ENST00000539703.1_5'Flank|SLC15A4_ENST00000544112.1_Missense_Mutation_p.L46V	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	383					ion transport (GO:0006811)|oligopeptide transport (GO:0006857)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	L-histidine transmembrane transporter activity (GO:0005290)|symporter activity (GO:0015293)			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		TTGTCCTTCAGAGGGATGAGC	0.557																																						uc001uhu.2		NA																	0					0						c.(1147-1149)CTG>GTG		solute carrier family 15, member 4							163.0	134.0	144.0					12																	129293444		2203	4300	6503	SO:0001583	missense	121260				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	g.chr12:129293444G>C	AY038999	CCDS9264.1	12q24.32	2013-07-18	2013-07-18		ENSG00000139370	ENSG00000139370		"""Solute carriers"""	23090	protein-coding gene	gene with protein product		615806	"""solute carrier family 15, member 4"""			11741232	Standard	NM_145648		Approved	PHT1, PTR4	uc001uhu.2	Q8N697	OTTHUMG00000168415	ENST00000266771.5:c.1147C>G	12.37:g.129293444G>C	ENSP00000266771:p.Leu383Val					SLC15A4_uc001uhv.2_RNA	p.L383V	NM_145648	NP_663623	Q8N697	S15A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)	5	1200	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		383			Helical; (Potential).		A6H8Y9|B3KTK1|Q71M34|Q7Z5F8|Q8TAH0	Missense_Mutation	SNP	ENST00000266771.5	37	c.1147C>G	CCDS9264.1	.	.	.	.	.	.	.	.	.	.	G	4.394	0.072804	0.08436	.	.	ENSG00000139370	ENST00000266771;ENST00000544112;ENST00000376740	T;T;T	0.66099	-0.19;3.61;3.61	5.6	-5.65	0.02459	Major facilitator superfamily domain, general substrate transporter (1);	0.133031	0.49305	N	0.000158	T	0.37433	0.1003	L	0.27975	0.815	0.18873	N	0.999981	B	0.14438	0.01	B	0.23574	0.047	T	0.32268	-0.9913	10	0.15499	T	0.54	.	7.817	0.29265	0.3115:0.2784:0.4101:0.0	.	383	Q8N697	S15A4_HUMAN	V	383;46;83	ENSP00000266771:L383V;ENSP00000439946:L46V;ENSP00000365930:L83V	ENSP00000266771:L383V	L	-	1	2	SLC15A4	127859397	0.000000	0.05858	0.000000	0.03702	0.667000	0.39255	-0.320000	0.08028	-0.657000	0.05373	-0.865000	0.03005	CTG		0.557	SLC15A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399663.1	NM_145648		19	67	0	0	0	0	19	67				
RIMBP2	23504	broad.mit.edu	37	12	130926553	130926553	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:130926553G>A	ENST00000261655.4	-	8	1456	c.1293C>T	c.(1291-1293)atC>atT	p.I431I	RIMBP2_ENST00000535703.1_Silent_p.I339I|RIMBP2_ENST00000536002.1_Silent_p.I339I	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	431	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.I431I(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CGGCCTTGACGATGTCGAACT	0.567																																						uc001uil.2		NA																	1	Substitution - coding silent(1)	p.I431I(1)	ovary(1)	upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11						c.(1291-1293)ATC>ATT		RIM-binding protein 2							130.0	93.0	106.0					12																	130926553		2203	4300	6503	SO:0001819	synonymous_variant	23504					cell junction|synapse		g.chr12:130926553G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1293C>T	12.37:g.130926553G>A						RIMBP2_uc001uim.2_Silent_p.I339I|RIMBP2_uc001uin.1_Silent_p.I90I	p.I431I	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	8	1457	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	431			Fibronectin type-III 2.		Q96ID2	Silent	SNP	ENST00000261655.4	37	c.1293C>T	CCDS31925.1																																																																																				0.567	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		11	51	0	0	0	0	11	51				
XPO4	64328	broad.mit.edu	37	13	21417053	21417053	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr13:21417053C>G	ENST00000255305.6	-	6	779	c.708G>C	c.(706-708)tgG>tgC	p.W236C	XPO4_ENST00000400602.2_Missense_Mutation_p.W236C			Q9C0E2	XPO4_HUMAN	exportin 4	236					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		GAAGAAAGTTCCAGCTCAAGA	0.408																																						uc001unq.3		NA																	0				large_intestine(1)|ovary(1)|kidney(1)	3						c.(706-708)TGG>TGC		exportin 4							59.0	59.0	59.0					13																	21417053		1885	4127	6012	SO:0001583	missense	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21417053C>G	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.708G>C	13.37:g.21417053C>G	ENSP00000255305:p.Trp236Cys					XPO4_uc010tcr.1_Missense_Mutation_p.W162C	p.W236C	NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	6	744	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	236					Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	ENST00000255305.6	37	c.708G>C	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.862024	0.51482	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.42900	0.96;0.97	6.07	6.07	0.98685	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.47377	0.1442	M	0.64404	1.975	0.80722	D	1	B	0.11235	0.004	B	0.06405	0.002	T	0.37686	-0.9695	10	0.87932	D	0	-7.5977	20.6593	0.99626	0.0:1.0:0.0:0.0	.	236	Q9C0E2	XPO4_HUMAN	C	236;106;236	ENSP00000383444:W236C;ENSP00000255305:W236C	ENSP00000255305:W236C	W	-	3	0	XPO4	20315053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.885000	0.99019	0.655000	0.94253	TGG		0.408	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		7	20	0	0	0	0	7	20				
MTUS2	23281	broad.mit.edu	37	13	29599371	29599371	+	Missense_Mutation	SNP	G	G	C	rs533342793		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr13:29599371G>C	ENST00000431530.3	+	1	624	c.566G>C	c.(565-567)aGa>aCa	p.R189T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	179						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.R189K(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TCTTTGGAAAGAGCAAGCAGC	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		18148	0.001		0.0	False		,,,				2504	0.0					uc001usl.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(565-567)AGA>ACA		hypothetical protein LOC23281 isoform a							60.0	65.0	63.0					13																	29599371		2068	4207	6275	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29599371G>C	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.566G>C	13.37:g.29599371G>C	ENSP00000392057:p.Arg189Thr						p.R189T	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN			1	624	+			179					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.566G>C	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	g	11.72	1.722617	0.30503	.	.	ENSG00000132938	ENST00000431530	T	0.21191	2.02	4.63	3.78	0.43462	.	0.414143	0.20179	N	0.097574	T	0.33147	0.0853	M	0.62723	1.935	0.20403	N	0.99991	D	0.57257	0.979	P	0.56563	0.801	T	0.08351	-1.0726	9	.	.	.	.	8.1274	0.31008	0.1839:0.0:0.8161:0.0	.	179	Q5JR59	MTUS2_HUMAN	T	189	ENSP00000392057:R189T	.	R	+	2	0	MTUS2	28497371	0.224000	0.23674	0.001000	0.08648	0.020000	0.10135	2.237000	0.43061	0.936000	0.37367	0.561000	0.74099	AGA		0.547	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		22	42	0	0	0	0	22	42				
KL	9365	broad.mit.edu	37	13	33627907	33627907	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr13:33627907C>T	ENST00000380099.3	+	2	831	c.823C>T	c.(823-825)Cat>Tat	p.H275Y	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_5'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	275	Glycosyl hydrolase-1 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TTCATAGGCTCATGCCAAAGT	0.413																																						uc001uus.2		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(823-825)CAT>TAT		klotho precursor							105.0	103.0	104.0					13																	33627907		2203	4300	6503	SO:0001583	missense	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33627907C>T	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.823C>T	13.37:g.33627907C>T	ENSP00000369442:p.His275Tyr					KL_uc001uur.1_5'UTR	p.H275Y	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	2	831	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	275			Glycosyl hydrolase-1 1.|Extracellular (Potential).		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	c.823C>T	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566370	0.86439	.	.	ENSG00000133116	ENST00000380099	T	0.38887	1.11	5.52	5.52	0.82312	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.81517	0.4839	H	0.99454	4.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89795	0.3971	10	0.87932	D	0	-27.4857	19.4398	0.94813	0.0:1.0:0.0:0.0	.	275	Q9UEF7	KLOT_HUMAN	Y	275	ENSP00000369442:H275Y	ENSP00000369442:H275Y	H	+	1	0	KL	32525907	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.696000	0.84270	2.598000	0.87819	0.655000	0.94253	CAT		0.413	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			19	49	0	0	0	0	19	49				
KL	9365	broad.mit.edu	37	13	33638296	33638296	+	Silent	SNP	G	G	A	rs139874106		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr13:33638296G>A	ENST00000380099.3	+	5	3020	c.3012G>A	c.(3010-3012)tcG>tcA	p.S1004S	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	1004					acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TTTACTACTCGAAGAAAGGCA	0.333																																						uc001uus.2		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(3010-3012)TCG>TCA		klotho precursor		G		0,4402		0,0,2201	37.0	39.0	39.0		3012	-8.5	0.8	13	dbSNP_134	39	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	KL	NM_004795.3		0,1,6499	AA,AG,GG		0.0116,0.0,0.0077		1004/1013	33638296	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33638296G>A	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.3012G>A	13.37:g.33638296G>A							p.S1004S	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	5	3020	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	1004			Cytoplasmic (Potential).		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Silent	SNP	ENST00000380099.3	37	c.3012G>A	CCDS9347.1																																																																																				0.333	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			9	14	0	0	0	0	9	14				
RBM26	64062	broad.mit.edu	37	13	79911235	79911235	+	Splice_Site	SNP	A	A	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr13:79911235A>G	ENST00000438737.2	-	19	3174		c.e19+1		RBM26_ENST00000438724.1_Splice_Site|RBM26_ENST00000267229.7_Splice_Site			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26						mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GTAAGAAAGTACCGCAAAATG	0.413																																						uc001vkz.2		NA																	0				ovary(1)	1						c.e19+1		RNA binding motif protein 26							81.0	72.0	75.0					13																	79911235		2203	4300	6503	SO:0001630	splice_region_variant	64062				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr13:79911235A>G	AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.2733+1T>C	13.37:g.79911235A>G						RBM26_uc001vky.2_Splice_Site_p.A884_splice|RBM26_uc001vla.2_Splice_Site_p.A887_splice|RBM26_uc010tia.1_Splice_Site_p.A268_splice|RBM26_uc001vkx.2_Splice_Site_p.A623_splice	p.A913_splice	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN		GBM - Glioblastoma multiforme(99;0.0188)	19	2753	-		Acute lymphoblastic leukemia(28;0.0279)						B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Splice_Site	SNP	ENST00000438737.2	37	c.2739_splice		.	.	.	.	.	.	.	.	.	.	A	22.8	4.333822	0.81801	.	.	ENSG00000139746	ENST00000449987;ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.193	0.73060	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RBM26	78809236	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.905000	0.92613	2.042000	0.60477	0.528000	0.53228	.		0.413	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	NM_022118	Intron	9	3	0	0	0	0	9	3				
MYO16	23026	broad.mit.edu	37	13	109540724	109540724	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr13:109540724G>C	ENST00000357550.2	+	13	1533	c.1492G>C	c.(1492-1494)Gaa>Caa	p.E498Q	MYO16_ENST00000356711.2_Missense_Mutation_p.E498Q|MYO16_ENST00000457511.2_Missense_Mutation_p.E10Q|MYO16_ENST00000251041.5_Missense_Mutation_p.E498Q	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCTTAGTGGAGAAAGGGGATC	0.438																																						uc001vqt.1		NA																	0				ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(1492-1494)GAA>CAA		myosin heavy chain Myr 8							71.0	75.0	74.0					13																	109540724		2203	4300	6503	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109540724G>C		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.1492G>C	13.37:g.109540724G>C	ENSP00000350160:p.Glu498Gln					MYO16_uc010agk.1_Missense_Mutation_p.E520Q|MYO16_uc001vqu.1_Missense_Mutation_p.E298Q|MYO16_uc010tjh.1_Missense_Mutation_p.E10Q	p.E498Q	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		14	1618	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		498			Myosin head-like 1.			Missense_Mutation	SNP	ENST00000357550.2	37	c.1492G>C	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300597	0.60195	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857;ENST00000457511	D;D;D;D	0.95853	-3.83;-3.83;-3.83;-3.83	5.18	5.18	0.71444	Myosin head, motor domain (3);	0.000000	0.41712	U	0.000834	D	0.98676	0.9556	H	0.98133	4.155	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.99585	1.0974	9	.	.	.	.	16.5633	0.84572	0.0:0.0:1.0:0.0	.	10;498;498	F8W883;Q9Y6X6-2;Q9Y6X6	.;.;MYO16_HUMAN	Q	498;498;498;498;286;10	ENSP00000349145:E498Q;ENSP00000350160:E498Q;ENSP00000251041:E498Q;ENSP00000401633:E10Q	.	E	+	1	0	MYO16	108338725	1.000000	0.71417	0.682000	0.30024	0.089000	0.18198	7.733000	0.84916	2.576000	0.86940	0.655000	0.94253	GAA		0.438	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		34	14	0	0	0	0	34	14				
OR4K5	79317	broad.mit.edu	37	14	20388770	20388770	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:20388770A>G	ENST00000315915.4	+	1	30	c.5A>G	c.(4-6)gAt>gGt	p.D2G		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGAACCATGGATAAGTCCAAT	0.353																																						uc010tkw.1		NA																	0				ovary(1)|skin(1)	2						c.(4-6)GAT>GGT		olfactory receptor, family 4, subfamily K,							132.0	138.0	136.0					14																	20388770		2203	4300	6503	SO:0001583	missense	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20388770A>G	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.5A>G	14.37:g.20388770A>G	ENSP00000319511:p.Asp2Gly						p.D2G	NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	5	+	all_cancers(95;0.00108)		2			Extracellular (Potential).		Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	c.5A>G	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	8.832	0.940138	0.18281	.	.	ENSG00000176281	ENST00000315915	T	0.03065	4.06	4.41	3.25	0.37280	.	0.320888	0.22641	N	0.057450	T	0.02807	0.0084	N	0.25031	0.7	0.31910	N	0.614827	B	0.02656	0.0	B	0.08055	0.003	T	0.15263	-1.0443	10	0.42905	T	0.14	.	6.4864	0.22091	0.8876:0.0:0.1124:0.0	.	2	Q8NGD3	OR4K5_HUMAN	G	2	ENSP00000319511:D2G	ENSP00000319511:D2G	D	+	2	0	OR4K5	19458610	0.003000	0.15002	0.563000	0.28383	0.285000	0.27093	0.291000	0.18994	0.714000	0.32081	0.533000	0.62120	GAT		0.353	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		8	41	0	0	0	0	8	41				
G2E3	55632	broad.mit.edu	37	14	31081542	31081542	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:31081542C>G	ENST00000206595.6	+	13	1784	c.1630C>G	c.(1630-1632)Ctt>Gtt	p.L544V	G2E3_ENST00000438909.2_Missense_Mutation_p.L498V|G2E3_ENST00000553504.1_Missense_Mutation_p.L574V	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	544	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						AAAAGACATACTTGGCTACCA	0.299																																						uc001wqk.2		NA																	0				ovary(2)|skin(1)	3						c.(1630-1632)CTT>GTT		G2/M-phase specific E3 ubiquitin ligase							88.0	89.0	88.0					14																	31081542		2203	4296	6499	SO:0001583	missense	55632				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr14:31081542C>G	AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"""Zinc fingers, PHD-type"""	20338	protein-coding gene	gene with protein product	"""PHD finger protein 7B"""	611299	"""KIAA1333"""	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.1630C>G	14.37:g.31081542C>G	ENSP00000206595:p.Leu544Val					G2E3_uc010tpf.1_Missense_Mutation_p.L498V|G2E3_uc001wql.1_Missense_Mutation_p.L56V	p.L544V	NM_017769	NP_060239	Q7L622	G2E3_HUMAN			13	1784	+			544			HECT.		Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Missense_Mutation	SNP	ENST00000206595.6	37	c.1630C>G	CCDS9638.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.662478	0.47572	.	.	ENSG00000092140	ENST00000206595;ENST00000438909;ENST00000553504	T;T;T	0.52057	0.68;0.68;0.68	5.47	5.47	0.80525	HECT (3);	0.061094	0.64402	D	0.000003	T	0.61098	0.2320	L	0.60455	1.87	0.43099	D	0.994782	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.57653	-0.7774	10	0.32370	T	0.25	-19.8426	10.2193	0.43188	0.0:0.852:0.0:0.148	.	56;544	Q49AD9;Q7L622	.;G2E3_HUMAN	V	544;498;574	ENSP00000206595:L544V;ENSP00000391068:L498V;ENSP00000451653:L574V	ENSP00000206595:L544V	L	+	1	0	G2E3	30151293	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	1.096000	0.30976	2.717000	0.92951	0.555000	0.69702	CTT		0.299	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769		20	46	0	0	0	0	20	46				
STRN3	29966	broad.mit.edu	37	14	31405711	31405711	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:31405711T>C	ENST00000357479.5	-	6	1032	c.836A>G	c.(835-837)aAt>aGt	p.N279S	STRN3_ENST00000355683.5_Missense_Mutation_p.N279S	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	279					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		TTTATGTTTATTCATCCGATG	0.328																																						uc001wqu.2		NA																	0					0						c.(835-837)AAT>AGT		nuclear autoantigen isoform 1							154.0	142.0	147.0					14																	31405711		2203	4300	6503	SO:0001583	missense	29966				negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	g.chr14:31405711T>C		CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"""WD repeat domain containing"""	15720	protein-coding gene	gene with protein product	"""cell cycle S/G2 nuclear autoantigen"""	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.836A>G	14.37:g.31405711T>C	ENSP00000350071:p.Asn279Ser					STRN3_uc001wqv.2_Missense_Mutation_p.N279S|STRN3_uc010tpj.1_RNA	p.N279S	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)	6	1052	-	Hepatocellular(127;0.0877)|Breast(36;0.148)		279					A2RTX7|A6NHZ7|Q9NRA5	Missense_Mutation	SNP	ENST00000357479.5	37	c.836A>G	CCDS41938.1	.	.	.	.	.	.	.	.	.	.	T	12.87	2.067295	0.36470	.	.	ENSG00000196792	ENST00000355683;ENST00000357479	T;T	0.60797	0.16;2.37	5.44	5.44	0.79542	.	0.282725	0.40728	N	0.001024	T	0.45677	0.1354	L	0.40543	1.245	0.38474	D	0.947546	B;B	0.32918	0.082;0.39	B;B	0.26864	0.049;0.074	T	0.46034	-0.9220	10	0.14656	T	0.56	-6.4092	15.4988	0.75680	0.0:0.0:0.0:1.0	.	279;279	Q13033-2;Q13033	.;STRN3_HUMAN	S	279	ENSP00000347909:N279S;ENSP00000350071:N279S	ENSP00000347909:N279S	N	-	2	0	STRN3	30475462	1.000000	0.71417	0.999000	0.59377	0.697000	0.40408	3.906000	0.56340	2.059000	0.61396	0.455000	0.32223	AAT		0.328	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574		16	27	0	0	0	0	16	27				
TRIM9	114088	broad.mit.edu	37	14	51561183	51561183	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:51561183G>A	ENST00000298355.3	-	1	1596	c.475C>T	c.(475-477)Cag>Tag	p.Q159*	TRIM9_ENST00000338969.5_Nonsense_Mutation_p.Q159*|TRIM9_ENST00000360392.4_Nonsense_Mutation_p.Q159*	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	159					negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TTGCTCTGCTGGTAGCGGTCA	0.617																																						uc001wyx.3		NA																	0				skin(2)|lung(1)	3						c.(475-477)CAG>TAG		tripartite motif protein 9 isoform 1							25.0	25.0	25.0					14																	51561183		2203	4299	6502	SO:0001587	stop_gained	114088				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:51561183G>A	AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16288	protein-coding gene	gene with protein product		606555	"""tripartite motif-containing 9"""			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.475C>T	14.37:g.51561183G>A	ENSP00000298355:p.Gln159*					TRIM9_uc001wyy.2_Nonsense_Mutation_p.Q159*|TRIM9_uc001wyz.3_Nonsense_Mutation_p.Q159*	p.Q159*	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN			1	1240	-	all_epithelial(31;0.00418)|Breast(41;0.148)		159					D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Nonsense_Mutation	SNP	ENST00000298355.3	37	c.475C>T	CCDS9703.1	.	.	.	.	.	.	.	.	.	.	G	48	14.475622	0.99797	.	.	ENSG00000100505	ENST00000298355;ENST00000338969;ENST00000360392	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	16.0912	0.81091	0.0:0.0:1.0:0.0	.	.	.	.	X	159	.	ENSP00000298355:Q159X	Q	-	1	0	TRIM9	50630933	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.489000	0.73641	2.394000	0.81467	0.561000	0.74099	CAG		0.617	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276874.1	NM_015163		11	28	0	0	0	0	11	28				
RHOJ	57381	broad.mit.edu	37	14	63749901	63749901	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:63749901C>T	ENST00000316754.3	+	4	927	c.465C>T	c.(463-465)ctC>ctT	p.L155L	RHOJ_ENST00000555125.1_Silent_p.L155L	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	155					actin cytoskeleton organization (GO:0030036)|GTP catabolic process (GO:0006184)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		AGAAACCTCTCACTTACGAGC	0.398																																						uc001xgb.1		NA																	0					0						c.(463-465)CTC>CTT		ras homolog gene family, member J precursor							108.0	104.0	106.0					14																	63749901		2203	4300	6503	SO:0001819	synonymous_variant	57381				actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity	g.chr14:63749901C>T	AK027351	CCDS9757.1	14q23.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000126785	ENSG00000126785			688	protein-coding gene	gene with protein product		607653	"""RAS-like, family 7, member B"", ""ras homolog gene family, member J"""	RASL7B, ARHJ		10967094	Standard	NM_020663		Approved	FLJ14445, TCL	uc001xgb.2	Q9H4E5	OTTHUMG00000140342	ENST00000316754.3:c.465C>T	14.37:g.63749901C>T							p.L155L	NM_020663	NP_065714	Q9H4E5	RHOJ_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)	4	908	+			155					Q96KC1	Silent	SNP	ENST00000316754.3	37	c.465C>T	CCDS9757.1																																																																																				0.398	RHOJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276975.3			17	36	0	0	0	0	17	36				
SYNE2	23224	broad.mit.edu	37	14	64564771	64564771	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:64564771G>C	ENST00000344113.4	+	62	12425	c.12213G>C	c.(12211-12213)ttG>ttC	p.L4071F	SYNE2_ENST00000357395.3_Missense_Mutation_p.L456F|MIR548H1_ENST00000408610.1_RNA|SYNE2_ENST00000358025.3_Missense_Mutation_p.L4071F|SYNE2_ENST00000555002.1_Missense_Mutation_p.L705F|SYNE2_ENST00000554584.1_Missense_Mutation_p.L4104F|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.L456F	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4071					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACCAGCATTTGAAGCAAGAAC	0.473																																						uc001xgm.2		NA																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(12211-12213)TTG>TTC		spectrin repeat containing, nuclear envelope 2							143.0	144.0	144.0					14																	64564771		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64564771G>C	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.12213G>C	14.37:g.64564771G>C	ENSP00000341781:p.Leu4071Phe					SYNE2_uc001xgl.2_Missense_Mutation_p.L4071F|SYNE2_uc010apy.2_Missense_Mutation_p.L456F|SYNE2_uc010apx.1_Missense_Mutation_p.L463F|MIR548H-1_hsa-mir-548h-1|MI0006411_5'Flank|SYNE2_uc010apz.1_5'Flank	p.L4071F	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	62	12443	+			4071			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.12213G>C	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.874188	0.33069	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.63913	0.38;3.68;0.38;-0.07;3.73;3.68	5.78	1.69	0.24217	.	0.000000	0.46758	D	0.000273	T	0.62612	0.2442	L	0.36672	1.1	0.80722	D	1	B;D;P;P	0.89917	0.105;1.0;0.848;0.904	B;D;P;P	0.76575	0.092;0.988;0.635;0.667	T	0.59231	-0.7493	10	0.45353	T	0.12	.	3.3085	0.07009	0.4081:0.0:0.4144:0.1775	.	456;4105;4071;4071	Q8WXH0-7;D4YW74;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	F	4071;456;4071;4104;4104;705;456	ENSP00000350719:L4071F;ENSP00000349969:L456F;ENSP00000341781:L4071F;ENSP00000452570:L4104F;ENSP00000450831:L705F;ENSP00000378249:L456F	ENSP00000261678:L4104F	L	+	3	2	SYNE2	63634524	1.000000	0.71417	0.993000	0.49108	0.574000	0.36063	0.616000	0.24344	0.274000	0.22072	-0.225000	0.12378	TTG		0.473	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		6	73	0	0	0	0	6	73				
ARG2	384	broad.mit.edu	37	14	68086772	68086772	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:68086772G>A	ENST00000261783.3	+	1	258	c.78G>A	c.(76-78)gtG>gtA	p.V26V	ARG2_ENST00000556491.1_3'UTR|Y_RNA_ENST00000364659.1_RNA	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	26					arginine metabolic process (GO:0006525)|cellular nitrogen compound metabolic process (GO:0034641)|nitric oxide biosynthetic process (GO:0006809)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)|urea cycle (GO:0000050)|ureteric bud development (GO:0001657)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	arginase activity (GO:0004053)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	TCCACTCCGTGGCTGTGATAG	0.622																																						uc001xjs.2		NA																	0					0						c.(76-78)GTG>GTA		arginase 2 precursor	L-Arginine(DB00125)|L-Ornithine(DB00129)						29.0	29.0	29.0					14																	68086772		2202	4300	6502	SO:0001819	synonymous_variant	384				arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding	g.chr14:68086772G>A	D86724	CCDS9785.1	14q24.1	2013-05-01	2013-05-01			ENSG00000081181			664	protein-coding gene	gene with protein product		107830	"""arginase, type II"""			8954792, 8898077	Standard	NM_001172		Approved		uc001xjs.3	P78540		ENST00000261783.3:c.78G>A	14.37:g.68086772G>A							p.V26V	NM_001172	NP_001163	P78540	ARGI2_HUMAN		all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	1	194	+			26					B2R690|Q6FHY8	Silent	SNP	ENST00000261783.3	37	c.78G>A	CCDS9785.1																																																																																				0.622	ARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415190.2	NM_001172		8	15	0	0	0	0	8	15				
FCF1	51077	broad.mit.edu	37	14	75181623	75181623	+	Silent	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:75181623C>G	ENST00000341162.4	+	3	174	c.120C>G	c.(118-120)ccC>ccG	p.P40P	AC007956.1_ENST00000338772.5_5'Flank|AREL1_ENST00000557401.1_5'Flank|SNORA7_ENST00000410672.1_RNA|AREL1_ENST00000356357.4_5'Flank|FCF1_ENST00000534938.2_Silent_p.P28P|FCF1_ENST00000553615.1_Silent_p.P25P	NM_015962.4	NP_057046.1	Q9Y324	FCF1_HUMAN	FCF1 rRNA-processing protein	40					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.0037)		AGAAGGATCCCAGCGCATTAA	0.353																																						uc001xqh.2		NA																	0				ovary(1)	1						c.(118-120)CCC>CCG		FCF1 small subunit							36.0	37.0	36.0					14																	75181623		2203	4300	6503	SO:0001819	synonymous_variant	51077				rRNA processing	nucleolus		g.chr14:75181623C>G	AF132969	CCDS9832.1	14q24.2	2013-05-03	2013-05-03	2007-01-30	ENSG00000119616	ENSG00000119616			20220	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 111"", ""FCF1 small subunit (SSU) processome component homolog (S. cerevisiae)"""	C14orf111		16762320	Standard	XR_245690		Approved	CGI-35, Bka, UTP24	uc001xqh.3	Q9Y324		ENST00000341162.4:c.120C>G	14.37:g.75181623C>G						KIAA0317_uc001xqb.2_5'Flank|KIAA0317_uc010tut.1_5'Flank|KIAA0317_uc001xqc.2_5'Flank|KIAA0317_uc001xqd.1_5'Flank|FCF1_uc001xqe.1_RNA|FCF1_uc001xqf.1_Silent_p.P25P|FCF1_uc001xqg.2_RNA|FCF1_uc001xqi.2_RNA	p.P40P	NM_015962	NP_057046	Q9Y324	FCF1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0037)	3	171	+			40					Q86TW8|Q8TBL8	Silent	SNP	ENST00000341162.4	37	c.120C>G	CCDS9832.1																																																																																				0.353	FCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413622.1	NM_015962		5	7	0	0	0	0	5	7				
DLST	1743	broad.mit.edu	37	14	75359641	75359641	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:75359641C>T	ENST00000334220.4	+	8	608	c.547C>T	c.(547-549)Cag>Tag	p.Q183*	DLST_ENST00000555190.1_3'UTR|DLST_ENST00000334212.6_Nonsense_Mutation_p.Q97*	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	183					cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|generation of precursor metabolites and energy (GO:0006091)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|oxoglutarate dehydrogenase complex (GO:0045252)	dihydrolipoyllysine-residue succinyltransferase activity (GO:0004149)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		CATACCCACTCAGATGCCACC	0.587																																						uc001xqv.2		NA																	0				ovary(1)	1						c.(547-549)CAG>TAG		dihydrolipoamide S-succinyltransferase (E2							67.0	58.0	61.0					14																	75359641		2203	4300	6503	SO:0001587	stop_gained	1743				lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity	g.chr14:75359641C>T		CCDS9833.1	14q23.1	2008-08-11			ENSG00000119689	ENSG00000119689	2.3.1.61		2911	protein-coding gene	gene with protein product		126063		DLTS		8009371	Standard	NM_001933		Approved		uc001xqv.2	P36957		ENST00000334220.4:c.547C>T	14.37:g.75359641C>T	ENSP00000335304:p.Gln183*					DLST_uc001xqu.2_Nonsense_Mutation_p.Q95*|DLST_uc001xqt.2_Nonsense_Mutation_p.Q99*|DLST_uc010tuw.1_Nonsense_Mutation_p.Q97*|DLST_uc001xqs.2_RNA|DLST_uc010tuv.1_Nonsense_Mutation_p.Q183*	p.Q183*	NM_001933	NP_001924	P36957	ODO2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00698)	8	610	+			183					B7Z5W8|E7ESY5|Q7LDY7|Q9BQ32	Nonsense_Mutation	SNP	ENST00000334220.4	37	c.547C>T	CCDS9833.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.914107	0.52546	.	.	ENSG00000119689	ENST00000334220;ENST00000334212;ENST00000554806	.	.	.	5.11	3.24	0.37175	.	0.596516	0.18686	N	0.134011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-49.8184	11.095	0.48139	0.1406:0.3809:0.4785:0.0	.	.	.	.	X	183;97;166	.	ENSP00000238671:Q166X	Q	+	1	0	DLST	74429394	0.996000	0.38824	0.999000	0.59377	0.952000	0.60782	1.162000	0.31786	0.828000	0.34709	0.655000	0.94253	CAG		0.587	DLST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413637.1			18	21	0	0	0	0	18	21				
DLST	1743	broad.mit.edu	37	14	75361017	75361017	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:75361017G>C	ENST00000334220.4	+	10	736	c.675G>C	c.(673-675)gaG>gaC	p.E225D	DLST_ENST00000555190.1_3'UTR|DLST_ENST00000334212.6_Missense_Mutation_p.E139D	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	225					cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|generation of precursor metabolites and energy (GO:0006091)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|oxoglutarate dehydrogenase complex (GO:0045252)	dihydrolipoyllysine-residue succinyltransferase activity (GO:0004149)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		ACTTTCAGGAGAAAATGAACA	0.473																																						uc001xqv.2		NA																	0				ovary(1)	1						c.(673-675)GAG>GAC		dihydrolipoamide S-succinyltransferase (E2							147.0	140.0	142.0					14																	75361017		2203	4300	6503	SO:0001583	missense	1743				lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity	g.chr14:75361017G>C		CCDS9833.1	14q23.1	2008-08-11			ENSG00000119689	ENSG00000119689	2.3.1.61		2911	protein-coding gene	gene with protein product		126063		DLTS		8009371	Standard	NM_001933		Approved		uc001xqv.2	P36957		ENST00000334220.4:c.675G>C	14.37:g.75361017G>C	ENSP00000335304:p.Glu225Asp					DLST_uc001xqu.2_Missense_Mutation_p.E137D|DLST_uc001xqt.2_Missense_Mutation_p.E141D|DLST_uc010tuw.1_Missense_Mutation_p.E139D|DLST_uc001xqs.2_RNA|DLST_uc010tuv.1_Missense_Mutation_p.E225D	p.E225D	NM_001933	NP_001924	P36957	ODO2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00698)	10	738	+			225					B7Z5W8|E7ESY5|Q7LDY7|Q9BQ32	Missense_Mutation	SNP	ENST00000334220.4	37	c.675G>C	CCDS9833.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037830	0.75617	.	.	ENSG00000119689	ENST00000334220;ENST00000334212;ENST00000554806	T;T;T	0.45276	0.9;0.9;0.9	5.79	0.806	0.18708	2-oxoacid dehydrogenase acyltransferase, catalytic domain (1);Chloramphenicol acetyltransferase-like domain (1);	0.051933	0.85682	D	0.000000	T	0.46600	0.1401	M	0.66506	2.035	0.35856	D	0.827144	P;P;P;P;P	0.45126	0.562;0.796;0.796;0.706;0.851	P;P;P;P;P	0.50617	0.545;0.639;0.639;0.545;0.646	T	0.54214	-0.8327	10	0.66056	D	0.02	-62.1027	6.8963	0.24257	0.2895:0.1099:0.6006:0.0	.	139;225;225;137;141	B7Z5W8;Q6IBS5;P36957;Q86TQ8;Q86TW7	.;.;ODO2_HUMAN;.;.	D	225;139;208	ENSP00000335304:E225D;ENSP00000335465:E139D;ENSP00000451957:E208D	ENSP00000238671:E208D	E	+	3	2	DLST	74430770	1.000000	0.71417	0.999000	0.59377	0.848000	0.48234	0.900000	0.28431	0.100000	0.17581	0.557000	0.71058	GAG		0.473	DLST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413637.1			47	83	0	0	0	0	47	83				
GPATCH2L	55668	broad.mit.edu	37	14	76621245	76621245	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:76621245C>G	ENST00000261530.7	+	2	605	c.539C>G	c.(538-540)tCa>tGa	p.S180*	GPATCH2L_ENST00000557263.1_Nonsense_Mutation_p.S180*|GPATCH2L_ENST00000312858.5_Nonsense_Mutation_p.S180*|GPATCH2L_ENST00000556663.1_Nonsense_Mutation_p.S180*	NM_017926.2	NP_060396.2	Q9NWQ4	GPT2L_HUMAN	G patch domain containing 2-like	180																	TGGACCTCATCAGGCCACGGA	0.483																																						uc001xsh.2		NA																	0				ovary(2)|skin(1)	3						c.(538-540)TCA>TGA		hypothetical protein LOC55668 isoform 1							57.0	58.0	58.0					14																	76621245		2203	4300	6503	SO:0001587	stop_gained	55668							g.chr14:76621245C>G	AK000696	CCDS9848.1, CCDS9849.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000089916	ENSG00000089916			20210	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 118"""	C14orf118		10574461	Standard	NM_017926		Approved	FLJ20689, FLJ10033	uc001xsh.3	Q9NWQ4	OTTHUMG00000171490	ENST00000261530.7:c.539C>G	14.37:g.76621245C>G	ENSP00000261530:p.Ser180*					C14orf118_uc001xsi.2_Nonsense_Mutation_p.S180*|C14orf118_uc001xsj.1_Nonsense_Mutation_p.S180*|C14orf118_uc001xsk.1_Nonsense_Mutation_p.S180*|C14orf118_uc001xsl.2_RNA	p.S180*	NM_017926	NP_060396	Q9NWQ4	CN118_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0172)	2	625	+			180					B3KN42|Q6PEJ7|Q9H3M3|Q9NWH0|Q9ULR8	Nonsense_Mutation	SNP	ENST00000261530.7	37	c.539C>G	CCDS9848.1	.	.	.	.	.	.	.	.	.	.	C	33	5.247779	0.95305	.	.	ENSG00000089916	ENST00000336993;ENST00000557263;ENST00000312858;ENST00000261530;ENST00000556663	.	.	.	5.57	5.57	0.84162	.	0.454337	0.20822	N	0.085042	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-43.7986	19.5549	0.95342	0.0:1.0:0.0:0.0	.	.	.	.	X	180	.	ENSP00000261530:S180X	S	+	2	0	C14orf118	75690998	0.660000	0.27420	0.975000	0.42487	0.991000	0.79684	5.237000	0.65360	2.622000	0.88805	0.655000	0.94253	TCA		0.483	GPATCH2L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000413698.2	NM_017926		6	19	0	0	0	0	6	19				
CEP128	145508	broad.mit.edu	37	14	81209426	81209426	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:81209426C>T	ENST00000555265.1	-	19	3174	c.2799G>A	c.(2797-2799)gaG>gaA	p.E933E	CEP128_ENST00000281129.3_Silent_p.E933E			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	933						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						CACCTCTCTTCTCACGATGTA	0.378																																						uc001xux.2		NA																	0					0						c.(2797-2799)GAG>GAA		hypothetical protein LOC145508							112.0	105.0	107.0					14																	81209426		2203	4300	6503	SO:0001819	synonymous_variant	145508					centriole|spindle pole		g.chr14:81209426C>T	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.2799G>A	14.37:g.81209426C>T						C14orf145_uc010asz.1_RNA	p.E933E	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0586)	18	2970	-			933			Potential.		B9EK52|Q86X97|Q96ML4	Silent	SNP	ENST00000555265.1	37	c.2799G>A	CCDS32130.1																																																																																				0.378	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		18	86	0	0	0	0	18	86				
SEL1L	6400	broad.mit.edu	37	14	81952776	81952776	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:81952776C>T	ENST00000336735.4	-	17	1771	c.1655G>A	c.(1654-1656)cGa>cAa	p.R552Q		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	552	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		CCAACGGCCTCGTTCACATAC	0.413																																						uc010tvv.1		NA																	0				ovary(1)	1						c.(1654-1656)CGA>CAA		sel-1 suppressor of lin-12-like precursor							146.0	141.0	142.0					14																	81952776		2203	4300	6503	SO:0001583	missense	6400				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr14:81952776C>T		CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"""sel-1 suppressor of lin-12-like 1 (C. elegans)"""	602329	"""sel-1 (suppressor of lin-12, C.elegans)-like"""			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.1655G>A	14.37:g.81952776C>T	ENSP00000337053:p.Arg552Gln						p.R552Q	NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0299)	17	1772	-			552			Lumenal (Potential).|Interaction with ERLEC1, OS9 and SYVN1.|Sel1-like 9.		Q6UWT6|Q9P1T9|Q9UHK7	Missense_Mutation	SNP	ENST00000336735.4	37	c.1655G>A	CCDS9876.1	.	.	.	.	.	.	.	.	.	.	C	36	5.721242	0.96839	.	.	ENSG00000071537	ENST00000336735	T	0.49139	0.79	5.92	5.92	0.95590	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.74313	0.3700	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70988	-0.4722	10	0.22706	T	0.39	.	20.3207	0.98668	0.0:1.0:0.0:0.0	.	552	Q9UBV2	SE1L1_HUMAN	Q	552	ENSP00000337053:R552Q	ENSP00000337053:R552Q	R	-	2	0	SEL1L	81022529	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.476000	0.81055	2.813000	0.96785	0.561000	0.74099	CGA		0.413	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413325.1	NM_005065		34	106	0	0	0	0	34	106				
SETD3	84193	broad.mit.edu	37	14	99932040	99932040	+	Splice_Site	SNP	T	T	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:99932040T>A	ENST00000331768.5	-	2	262	c.103A>T	c.(103-105)Aaa>Taa	p.K35*	SETD3_ENST00000329331.3_Splice_Site_p.K35*|SETD3_ENST00000453938.1_5'UTR|SETD3_ENST00000436070.2_Splice_Site_p.K35*	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	35					histone H3-K36 methylation (GO:0010452)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|peptidyl-lysine trimethylation (GO:0018023)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				GAGGACTTACTCTGCAGCAGC	0.502																																						uc001ygc.2		NA																	0					0						c.(103-105)AAA>TAA		SET domain containing 3 isoform a							182.0	165.0	170.0					14																	99932040		2203	4300	6503	SO:0001630	splice_region_variant	84193				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity	g.chr14:99932040T>A	AK026680	CCDS9951.1, CCDS9952.1	14q32.2	2006-02-15	2006-02-15	2006-02-15	ENSG00000183576	ENSG00000183576			20493	protein-coding gene	gene with protein product		615671	"""chromosome 14 open reading frame 154"""	C14orf154			Standard	NM_032233		Approved	FLJ23027	uc001ygc.3	Q86TU7	OTTHUMG00000028970	ENST00000331768.5:c.103+1A>T	14.37:g.99932040T>A						SETD3_uc001ygd.2_Nonsense_Mutation_p.K35*|SETD3_uc001ygf.2_Nonsense_Mutation_p.K35*	p.K35*	NM_032233	NP_115609	Q86TU7	SETD3_HUMAN			2	273	-		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)	35					A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Nonsense_Mutation	SNP	ENST00000331768.5	37	c.103A>T	CCDS9951.1	.	.	.	.	.	.	.	.	.	.	T	37	6.003196	0.97189	.	.	ENSG00000183576	ENST00000331768;ENST00000329331;ENST00000436070	.	.	.	5.62	5.62	0.85841	.	0.054455	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.5603	15.827	0.78718	0.0:0.0:0.0:1.0	.	.	.	.	X	35	.	.	K	-	1	0	SETD3	99001793	1.000000	0.71417	1.000000	0.80357	0.601000	0.36947	5.855000	0.69510	2.129000	0.65627	0.533000	0.62120	AAA		0.502	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072339.3	NM_032233	Nonsense_Mutation	9	30	0	0	0	0	9	30				
EIF5	1983	broad.mit.edu	37	14	103807372	103807372	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:103807372G>C	ENST00000216554.3	+	12	1955	c.1279G>C	c.(1279-1281)Gat>Cat	p.D427H	EIF5_ENST00000558506.1_Missense_Mutation_p.D427H|EIF5_ENST00000392715.2_Missense_Mutation_p.D427H	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	427	Asp-rich (acidic).				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.D425fs*>5(1)		breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			TGACGACATCGATATTGATGC	0.403																																						uc001ymq.2		NA																	1	Deletion - Frameshift(1)		pancreas(1)	pancreas(1)|breast(1)|skin(1)	3						c.(1279-1281)GAT>CAT		eukaryotic translation initiation factor 5							147.0	121.0	130.0					14																	103807372		2203	4300	6503	SO:0001583	missense	1983				regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity	g.chr14:103807372G>C	U49436	CCDS9980.1	14q32.32	2006-05-11				ENSG00000100664			3299	protein-coding gene	gene with protein product		601710				8663286	Standard	NM_001969		Approved		uc001ymq.4	P55010		ENST00000216554.3:c.1279G>C	14.37:g.103807372G>C	ENSP00000216554:p.Asp427His					EIF5_uc001ymr.2_Missense_Mutation_p.D427H|EIF5_uc001yms.2_Missense_Mutation_p.D427H|EIF5_uc001ymt.2_Missense_Mutation_p.D427H|EIF5_uc001ymu.2_Missense_Mutation_p.D427H	p.D427H	NM_001969	NP_001960	P55010	IF5_HUMAN	Epithelial(46;0.182)		12	1801	+		Melanoma(154;0.155)	427			Asp-rich (acidic).		Q53XB3|Q9H5N2|Q9UG48	Missense_Mutation	SNP	ENST00000216554.3	37	c.1279G>C	CCDS9980.1	.	.	.	.	.	.	.	.	.	.	.	17.86	3.491958	0.64074	.	.	ENSG00000100664	ENST00000216554;ENST00000392715	D;D	0.91180	-2.8;-2.8	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.94804	0.8322	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94911	0.8065	10	0.87932	D	0	-3.1603	19.617	0.95638	0.0:0.0:1.0:0.0	.	427	P55010	IF5_HUMAN	H	427	ENSP00000216554:D427H;ENSP00000376477:D427H	ENSP00000216554:D427H	D	+	1	0	EIF5	102877125	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.248000	0.78268	2.697000	0.92050	0.650000	0.86243	GAT		0.403	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415329.2	NM_001969		7	42	0	0	0	0	7	42				
SIVA1	10572	broad.mit.edu	37	14	105225821	105225821	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:105225821G>A	ENST00000329967.6	+	4	629	c.527G>A	c.(526-528)tGa>tAa	p.*176*	SIVA1_ENST00000347067.5_Silent_p.*111*	NM_006427.3	NP_006418.2	O15304	SIVA_HUMAN	SIVA1, apoptosis-inducing factor	0					activation-induced cell death of T cells (GO:0006924)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	CD27 receptor binding (GO:0005175)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|prostate(1)	3		all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.173)		TTCGAGACCTGAGGCTGGCTC	0.627																																						uc001yph.2		NA																	0					0						c.(526-528)TGA>TAA		CD27-binding (Siva) protein isoform 1							55.0	41.0	46.0					14																	105225821		2203	4300	6503	SO:0001819	synonymous_variant	10572				activation of caspase activity by cytochrome c|activation-induced cell death of T cells|apoptosis|induction of apoptosis|interspecies interaction between organisms|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity	cytoplasm|mitochondrion|nucleoplasm|nucleus	caspase activator activity|CD27 receptor binding|metal ion binding|viral receptor activity|zinc ion binding	g.chr14:105225821G>A	U82938	CCDS9992.1, CCDS9993.1	14q32.33	2007-03-19							17712	protein-coding gene	gene with protein product		605567				9177220	Standard	NM_006427		Approved	SIVA, Siva-1, Siva-2, CD27BP	uc001yph.3	O15304		ENST00000329967.6:c.527G>A	14.37:g.105225821G>A						INF2_uc010tyi.1_Intron|SIVA1_uc001ypg.1_3'UTR|SIVA1_uc001ypi.2_Silent_p.*111*	p.*176*	NM_006427	NP_006418	O15304	SIVA_HUMAN	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.173)	4	596	+		all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172)	176					Q96P98|Q9UPD6	Silent	SNP	ENST00000329967.6	37	c.527G>A	CCDS9992.1																																																																																				0.627	SIVA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410541.1	NM_006427		4	23	0	0	0	0	4	23				
AKT1	207	broad.mit.edu	37	14	105241317	105241317	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr14:105241317G>A	ENST00000554581.1	-	6	2071	c.591C>T	c.(589-591)acC>acT	p.T197T	AKT1_ENST00000555458.1_5'Flank|AKT1_ENST00000554192.1_5'Flank|AKT1_ENST00000349310.3_Silent_p.T197T|AKT1_ENST00000544168.1_Silent_p.T135T|AKT1_ENST00000407796.2_Silent_p.T197T|AKT1_ENST00000555528.1_Silent_p.T197T|AKT1_ENST00000554585.1_5'Flank|AKT1_ENST00000402615.2_Silent_p.T197T|AKT1_ENST00000554848.1_Silent_p.T197T			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	197	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	CGCGGTTCTCGGTGAGTGTGT	0.682		1	Mis		"""breast, colorectal, ovarian, NSCLC"""																																	uc001ypk.2		1		Dom	yes		14	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1			E			breast|colorectal|ovarian|NSCLC		0				breast(86)|urinary_tract(12)|thyroid(10)|lung(7)|endometrium(5)|large_intestine(4)|skin(4)|prostate(3)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1)	134						c.(589-591)ACC>ACT		AKT1 kinase	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)						86.0	80.0	82.0					14																	105241317		2203	4300	6503	SO:0001819	synonymous_variant	207				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	g.chr14:105241317G>A	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.591C>T	14.37:g.105241317G>A						INF2_uc010tyi.1_Intron|AKT1_uc001ypl.2_Silent_p.T197T|AKT1_uc010axa.2_Silent_p.T197T|AKT1_uc001ypm.2_Silent_p.T197T|AKT1_uc001ypn.2_Silent_p.T197T|AKT1_uc010tyk.1_Silent_p.T135T	p.T197T	NM_005163	NP_005154	P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	7	1145	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	197			Protein kinase.		B2RAM5|B7Z5R1|Q9BWB6	Silent	SNP	ENST00000554581.1	37	c.591C>T	CCDS9994.1																																																																																				0.682	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163		14	56	0	0	0	0	14	56				
TRPM1	4308	broad.mit.edu	37	15	31339443	31339443	+	Silent	SNP	C	C	T	rs201426913		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:31339443C>T	ENST00000256552.6	-	15	1782	c.1635G>A	c.(1633-1635)ccG>ccA	p.P545P	TRPM1_ENST00000397795.2_Silent_p.P523P|TRPM1_ENST00000542188.1_Silent_p.P562P	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGTAATCAGGCGGAAGGTTGC	0.547																																						uc001zfm.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1567-1569)CCG>CCA		transient receptor potential cation channel,		C		1,3991		0,1,1995	78.0	77.0	77.0		1569	-11.0	0.0	15		77	0,8350		0,0,4175	no	coding-synonymous	TRPM1	NM_002420.4		0,1,6170	TT,TC,CC		0.0,0.0251,0.0081		523/1604	31339443	1,12341	1996	4175	6171	SO:0001819	synonymous_variant	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31339443C>T	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.1635G>A	15.37:g.31339443C>T						TRPM1_uc010azy.2_Silent_p.P430P|TRPM1_uc001zfl.2_RNA	p.P523P	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	14	1697	-		all_lung(180;1.92e-11)	523			Extracellular (Potential).			Silent	SNP	ENST00000256552.6	37	c.1569G>A	CCDS58346.1																																																																																				0.547	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		6	25	0	0	0	0	6	25				
EMC7	56851	broad.mit.edu	37	15	34382601	34382601	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:34382601G>C	ENST00000256545.4	-	3	520	c.412C>G	c.(412-414)Ctc>Gtc	p.L138V		NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	138						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										TTCATTTGGAGAGGATAGGGC	0.393																																						uc001zhm.2		NA																	0					0						c.(412-414)CTC>GTC		chromosome 15 open reading frame 24 precursor							123.0	115.0	118.0					15																	34382601		2201	4298	6499	SO:0001583	missense	56851					cytoplasm|integral to membrane	carbohydrate binding|carboxypeptidase activity|purine nucleotide binding	g.chr15:34382601G>C	AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 24"""	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.412C>G	15.37:g.34382601G>C	ENSP00000256545:p.Leu138Val					C15orf24_uc001zhn.2_Missense_Mutation_p.L21V	p.L138V	NM_020154	NP_064539	Q9NPA0	CO024_HUMAN		all cancers(64;2.02e-17)|GBM - Glioblastoma multiforme(113;2.15e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)	3	425	-		all_lung(180;1.76e-08)	138			Extracellular (Potential).		B2RC00|Q96ED5	Missense_Mutation	SNP	ENST00000256545.4	37	c.412C>G	CCDS10032.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.181341|5.181341	0.94885|0.94885	.|.	.|.	ENSG00000134153|ENSG00000134153	ENST00000256545|ENST00000527822	.|.	.|.	.|.	5.81|5.81	5.81|5.81	0.92471|0.92471	Domain of unknown function DUF2012 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.82157|0.82157	0.4976|0.4976	M|M	0.81341|0.81341	2.54|2.54	0.80722|0.80722	D|D	1|1	D|.	0.63046|.	0.992|.	D|.	0.63192|.	0.912|.	T|T	0.81756|0.81756	-0.0787|-0.0787	9|5	0.27785|.	T|.	0.31|.	-12.7911|-12.7911	20.0805|20.0805	0.97772|0.97772	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	138|.	Q9NPA0|.	CO024_HUMAN|.	V|C	138|87	.|.	ENSP00000256545:L138V|.	L|S	-|-	1|2	0|0	C15orf24|C15orf24	32169893|32169893	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.869000|9.869000	0.99810|0.99810	2.755000|2.755000	0.94549|0.94549	0.650000|0.650000	0.86243|0.86243	CTC|TCT		0.393	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251519.1	NM_020154		15	60	0	0	0	0	15	60				
CASC5	57082	broad.mit.edu	37	15	40914964	40914964	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:40914964G>A	ENST00000346991.5	+	11	2970	c.2580G>A	c.(2578-2580)caG>caA	p.Q860Q	CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Silent_p.Q834Q			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	860	2 X 104 AA approximate repeats.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AAAGTGTACAGAAACCTAAAT	0.338																																						uc010bbs.1		NA																	0				breast(3)|central_nervous_system(1)|skin(1)	5						c.(2578-2580)CAG>CAA		cancer susceptibility candidate 5 isoform 1							64.0	60.0	62.0					15																	40914964		1811	4080	5891	SO:0001819	synonymous_variant	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40914964G>A	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.2580G>A	15.37:g.40914964G>A						CASC5_uc010ucq.1_Silent_p.Q684Q|CASC5_uc001zme.2_Silent_p.Q834Q|CASC5_uc010bbt.1_Silent_p.Q834Q	p.Q860Q	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	11	2741	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	860			2 X 104 AA approximate repeats.		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Silent	SNP	ENST00000346991.5	37	c.2580G>A	CCDS42023.1																																																																																				0.338	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		32	44	0	0	0	0	32	44				
SPINT1	6692	broad.mit.edu	37	15	41148218	41148218	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:41148218G>A	ENST00000344051.4	+	9	1528	c.1294G>A	c.(1294-1296)Gag>Aag	p.E432K	SPINT1_ENST00000562057.1_Missense_Mutation_p.E416K|SPINT1_ENST00000431806.1_Missense_Mutation_p.E416K			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	432	BPTI/Kunitz inhibitor 2. {ECO:0000255|PROSITE-ProRule:PRU00031}.				branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GAACAACTTTGAGGAAGAGCA	0.577																																						uc001zna.2		NA																	0				ovary(1)	1						c.(1294-1296)GAG>AAG		serine peptidase inhibitor, Kunitz type 1							142.0	135.0	138.0					15																	41148218		2203	4300	6503	SO:0001583	missense	6692					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity	g.chr15:41148218G>A		CCDS10067.1, CCDS45231.1	15q13.3	2008-02-05	2005-08-17		ENSG00000166145	ENSG00000166145			11246	protein-coding gene	gene with protein product		605123	"""serine protease inhibitor, Kunitz type 1"""				Standard	XM_006720657		Approved	HAI, MANSC2	uc001zna.3	O43278	OTTHUMG00000130068	ENST00000344051.4:c.1294G>A	15.37:g.41148218G>A	ENSP00000342098:p.Glu432Lys					SPINT1_uc001znb.2_Missense_Mutation_p.E416K|SPINT1_uc001znc.2_Missense_Mutation_p.E416K|SPINT1_uc010ucs.1_Missense_Mutation_p.E423K	p.E432K	NM_181642	NP_857593	O43278	SPIT1_HUMAN		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	9	1498	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	432			BPTI/Kunitz inhibitor 2.		Q7Z7D2	Missense_Mutation	SNP	ENST00000344051.4	37	c.1294G>A	CCDS10067.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459803	0.63401	.	.	ENSG00000166145	ENST00000344051;ENST00000536281;ENST00000431806	T;T	0.57907	0.37;0.37	5.39	3.41	0.39046	Proteinase inhibitor I2, Kunitz metazoa (6);Proteinase inhibitor I2, Kunitz, conserved site (1);	0.400874	0.29900	N	0.010907	T	0.40171	0.1106	L	0.28344	0.845	0.54753	D	0.999983	B;B;B	0.29590	0.103;0.25;0.063	B;B;B	0.36244	0.108;0.22;0.046	T	0.21895	-1.0232	10	0.28530	T	0.3	-26.3697	9.9164	0.41436	0.0739:0.245:0.6812:0.0	.	416;416;432	B2RBU9;O43278-2;O43278	.;.;SPIT1_HUMAN	K	432;399;416	ENSP00000342098:E432K;ENSP00000409935:E416K	ENSP00000342098:E432K	E	+	1	0	SPINT1	38935510	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.510000	0.53393	1.421000	0.47157	0.561000	0.74099	GAG		0.577	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252359.2	NM_003710		32	87	0	0	0	0	32	87				
ZNF106	64397	broad.mit.edu	37	15	42742338	42742338	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:42742338G>A	ENST00000263805.4	-	2	2389	c.2063C>T	c.(2062-2064)tCt>tTt	p.S688F	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	688					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TGTTTCATAAGATACATGAGA	0.453																																						uc001zpw.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(2062-2064)TCT>TTT		zinc finger protein 106 homolog							119.0	121.0	120.0					15																	42742338		2203	4299	6502	SO:0001583	missense	64397					nucleolus	zinc ion binding	g.chr15:42742338G>A	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.2063C>T	15.37:g.42742338G>A	ENSP00000263805:p.Ser688Phe					ZFP106_uc001zpu.2_5'Flank|ZFP106_uc001zpv.2_Intron|ZFP106_uc001zpx.2_Intron|ZFP106_uc010udh.1_Missense_Mutation_p.S471F|ZFP106_uc001zpy.1_Missense_Mutation_p.S711F	p.S688F	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN		GBM - Glioblastoma multiforme(94;8.6e-07)	2	2398	-		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)	688					B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.2063C>T	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	G	9.547	1.114950	0.20795	.	.	ENSG00000103994	ENST00000263805	T	0.43294	0.95	5.14	4.23	0.50019	.	0.698029	0.14715	N	0.302676	T	0.28632	0.0709	L	0.40543	1.245	0.09310	N	1	P;B	0.37636	0.603;0.257	B;B	0.33521	0.165;0.075	T	0.25537	-1.0129	10	0.49607	T	0.09	-1.2692	3.5612	0.07882	0.1491:0.134:0.5785:0.1384	.	471;688	B4DGC7;Q9H2Y7	.;ZF106_HUMAN	F	688	ENSP00000263805:S688F	ENSP00000263805:S688F	S	-	2	0	ZFP106	40529630	0.969000	0.33509	0.507000	0.27676	0.925000	0.55904	1.634000	0.37123	1.527000	0.49086	0.650000	0.86243	TCT		0.453	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		34	103	0	0	0	0	34	103				
SERINC4	619189	broad.mit.edu	37	15	44087395	44087395	+	Missense_Mutation	SNP	G	G	T	rs567856203	byFrequency	TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:44087395G>T	ENST00000319327.6	-	12	1594	c.1360C>A	c.(1360-1362)Ctg>Atg	p.L454M	SERF2_ENST00000409291.1_Intron|MIR1282_ENST00000408865.1_RNA|HYPK_ENST00000406925.1_5'Flank|SERF2_ENST00000594896.1_Intron|SERINC4_ENST00000249714.3_Missense_Mutation_p.L210M|SERF2_ENST00000409646.1_Intron|RP11-296A16.1_ENST00000417761.2_Intron|SERINC4_ENST00000299969.6_Missense_Mutation_p.N379K	NM_001258031.1	NP_001244960.1	A6NH21	SERC4_HUMAN	serine incorporator 4	454					phospholipid biosynthetic process (GO:0008654)	integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	6		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;7.81e-07)		GTCTTTTCCAGTTCTGCTCCC	0.507																																						uc010bds.1		NA																	0					0						c.(628-630)CTG>ATG		serine incorporator 4							69.0	63.0	65.0					15																	44087395		2198	4298	6496	SO:0001583	missense	619189				phospholipid biosynthetic process	integral to membrane		g.chr15:44087395G>T	DQ103711	CCDS58360.1	15q15.3	2013-09-25			ENSG00000184716	ENSG00000184716			32237	protein-coding gene	gene with protein product		614550					Standard	NM_001258031		Approved	FLJ40363	uc031qrp.1	A6NH21	OTTHUMG00000060144	ENST00000319327.6:c.1360C>A	15.37:g.44087395G>T	ENSP00000319796:p.Leu454Met					ELL3_uc001zsx.1_Intron|SERF2_uc010uee.1_3'UTR|C15orf63_uc001ztb.2_Intron|SERF2_uc001zsz.3_3'UTR|MIR1282_hsa-mir-1282|MI0006429_5'Flank|SERINC4_uc001ztc.1_RNA|SERINC4_uc001ztd.1_Missense_Mutation_p.N97K|SERINC4_uc001zte.1_Missense_Mutation_p.L210M	p.L210M	NM_001033517	NP_001028689	A6NH21	SERC4_HUMAN		GBM - Glioblastoma multiforme(94;7.81e-07)	9	1096	-		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)	454					B2RN41|Q3YL75	Missense_Mutation	SNP	ENST00000319327.6	37	c.628C>A	CCDS58360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.22|17.22	3.335181|3.335181	0.60853|0.60853	.|.	.|.	ENSG00000184716|ENSG00000184716	ENST00000319327;ENST00000249714|ENST00000299969	T;T|T	0.15487|0.26957	2.42;2.42|1.7	5.82|5.82	3.84|3.84	0.44239|0.44239	.|.	0.075914|.	0.56097|.	D|.	0.000040|.	T|T	0.26666|0.26666	0.0652|0.0652	M|M	0.65975|0.65975	2.015|2.015	0.42906|0.42906	D|D	0.994245|0.994245	D|B	0.76494|0.22480	0.999|0.07	P|B	0.61275|0.15870	0.886|0.014	T|T	0.07271|0.07271	-1.0781|-1.0781	10|9	0.40728|0.40728	T|T	0.16|0.16	-6.4161|-6.4161	10.7358|10.7358	0.46124|0.46124	0.0681:0.0:0.8007:0.1312|0.0681:0.0:0.8007:0.1312	.|.	210|379	A6NH21-2|A6NM42	.|.	M|K	454;210|379	ENSP00000319796:L454M;ENSP00000249714:L210M|ENSP00000299969:N379K	ENSP00000249714:L210M|ENSP00000299969:N379K	L|N	-|-	1|3	2|2	SERINC4|SERINC4	41874687|41874687	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	4.482000|4.482000	0.60257|0.60257	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CTG|AAC		0.507	SERINC4-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133485.2			11	33	1	0	2.27e-07	2.41e-07	11	33				
SLC30A4	7782	broad.mit.edu	37	15	45778943	45778943	+	Splice_Site	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:45778943C>G	ENST00000261867.4	-	7	1315	c.1001G>C	c.(1000-1002)gGt>gCt	p.G334A	RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	334					regulation of sequestering of zinc ion (GO:0061088)|response to toxic substance (GO:0009636)|zinc ion homeostasis (GO:0055069)|zinc ion transmembrane transport (GO:0071577)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		GCTTGGCACACCTATTAGGAA	0.294																																						uc001zvj.2		NA																	0					0						c.(1000-1002)GGT>GCT		solute carrier family 30 (zinc transporter),							98.0	114.0	109.0					15																	45778943		2198	4297	6495	SO:0001630	splice_region_variant	7782				regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity	g.chr15:45778943C>G		CCDS10125.1	15q21.1	2013-05-22			ENSG00000104154	ENSG00000104154		"""Solute carriers"""	11015	protein-coding gene	gene with protein product		602095		ZNT4			Standard	NM_013309		Approved		uc001zvj.3	O14863	OTTHUMG00000131439	ENST00000261867.4:c.1001-1G>C	15.37:g.45778943C>G							p.G334A	NM_013309	NP_037441	O14863	ZNT4_HUMAN		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)	7	1313	-		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	334			Cytoplasmic (Potential).		Q8TC39	Missense_Mutation	SNP	ENST00000261867.4	37	c.1001G>C	CCDS10125.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308380	0.81247	.	.	ENSG00000104154	ENST00000261867	T	0.61392	0.11	5.47	5.47	0.80525	.	0.144445	0.64402	D	0.000006	T	0.69744	0.3145	L	0.41027	1.25	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.70375	-0.4889	10	0.54805	T	0.06	.	17.9015	0.88905	0.0:1.0:0.0:0.0	.	334	O14863	ZNT4_HUMAN	A	334	ENSP00000261867:G334A	ENSP00000261867:G334A	G	-	2	0	SLC30A4	43566235	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.775000	0.75018	2.581000	0.87130	0.573000	0.79308	GGT		0.294	SLC30A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254236.1		Missense_Mutation	41	167	0	0	0	0	41	167				
TRPM7	54822	broad.mit.edu	37	15	50866575	50866575	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:50866575C>G	ENST00000313478.7	-	36	5485	c.5204G>C	c.(5203-5205)gGa>gCa	p.G1735A	TRPM7_ENST00000560955.1_Missense_Mutation_p.G1734A|TRPM7_ENST00000561443.1_5'UTR	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1735	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AATCTCATCTCCATTATTATT	0.388																																						uc001zyt.3		NA																	0				ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10						c.(5203-5205)GGA>GCA		transient receptor potential cation channel,							75.0	73.0	74.0					15																	50866575		1814	4081	5895	SO:0001583	missense	54822				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	g.chr15:50866575C>G	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.5204G>C	15.37:g.50866575C>G	ENSP00000320239:p.Gly1735Ala					TRPM7_uc001zyr.2_Missense_Mutation_p.G172A	p.G1735A	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	36	5468	-			1735			Cytoplasmic (Potential).|Alpha-type protein kinase.		Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	c.5204G>C	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578693	0.86645	.	.	ENSG00000092439	ENST00000313478	T	0.12465	2.68	5.25	5.25	0.73442	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.46833	0.1413	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54689	-0.8256	10	0.87932	D	0	-18.4458	19.0392	0.92991	0.0:1.0:0.0:0.0	.	1735	Q96QT4	TRPM7_HUMAN	A	1735	ENSP00000320239:G1735A	ENSP00000320239:G1735A	G	-	2	0	TRPM7	48653867	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.462000	0.80851	2.714000	0.92807	0.650000	0.86243	GGA		0.388	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		10	43	0	0	0	0	10	43				
TRPM7	54822	broad.mit.edu	37	15	50866605	50866605	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:50866605C>G	ENST00000313478.7	-	36	5455	c.5174G>C	c.(5173-5175)gGa>gCa	p.G1725A	TRPM7_ENST00000560955.1_Missense_Mutation_p.G1724A|TRPM7_ENST00000561443.1_5'UTR	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1725	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TCTAAATTCTCCAGTCATACA	0.343																																						uc001zyt.3		NA																	0				ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10						c.(5173-5175)GGA>GCA		transient receptor potential cation channel,							61.0	59.0	60.0					15																	50866605		1811	4074	5885	SO:0001583	missense	54822				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	g.chr15:50866605C>G	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.5174G>C	15.37:g.50866605C>G	ENSP00000320239:p.Gly1725Ala					TRPM7_uc001zyr.2_Missense_Mutation_p.G162A	p.G1725A	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	36	5438	-			1725			Cytoplasmic (Potential).|Alpha-type protein kinase.		Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	c.5174G>C	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457764	0.84317	.	.	ENSG00000092439	ENST00000313478	T	0.12569	2.67	4.98	4.98	0.66077	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.49236	0.1545	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62671	-0.6805	10	0.87932	D	0	-22.4067	18.4583	0.90729	0.0:1.0:0.0:0.0	.	1725	Q96QT4	TRPM7_HUMAN	A	1725	ENSP00000320239:G1725A	ENSP00000320239:G1725A	G	-	2	0	TRPM7	48653897	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.462000	0.80851	2.564000	0.86499	0.650000	0.86243	GGA		0.343	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		4	31	0	0	0	0	4	31				
DMXL2	23312	broad.mit.edu	37	15	51778300	51778300	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:51778300G>C	ENST00000251076.5	-	23	5739	c.5452C>G	c.(5452-5454)Caa>Gaa	p.Q1818E	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.Q1182E|DMXL2_ENST00000543779.2_Missense_Mutation_p.Q1818E	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1818						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TTTGGTGTTTGTTCCAGTAAT	0.383																																						uc002abf.2		NA																	0				ovary(6)|skin(3)	9						c.(5452-5454)CAA>GAA		Dmx-like 2							110.0	102.0	104.0					15																	51778300		2196	4293	6489	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51778300G>C	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.5452C>G	15.37:g.51778300G>C	ENSP00000251076:p.Gln1818Glu					DMXL2_uc010ufy.1_Missense_Mutation_p.Q1818E|DMXL2_uc010bfa.2_Missense_Mutation_p.Q1182E	p.Q1818E	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	23	5677	-			1818					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.5452C>G	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972052	0.74246	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.40476	1.03;1.03;1.03	5.51	5.51	0.81932	.	0.053011	0.85682	D	0.000000	T	0.45935	0.1367	L	0.46670	1.46	0.48901	D	0.999726	P;P;P	0.47409	0.783;0.895;0.679	B;P;P	0.45913	0.44;0.479;0.497	T	0.24941	-1.0146	10	0.34782	T	0.22	.	19.7717	0.96369	0.0:0.0:1.0:0.0	.	1818;1182;1818	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	E	1818;1818;1182	ENSP00000251076:Q1818E;ENSP00000441858:Q1818E;ENSP00000400855:Q1182E	ENSP00000251076:Q1818E	Q	-	1	0	DMXL2	49565592	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	5.219000	0.65262	2.734000	0.93682	0.650000	0.86243	CAA		0.383	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		30	27	0	0	0	0	30	27				
UNC13C	440279	broad.mit.edu	37	15	54305292	54305292	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:54305292G>T	ENST00000260323.11	+	1	192	c.192G>T	c.(190-192)aaG>aaT	p.K64N	UNC13C_ENST00000537900.1_Missense_Mutation_p.K64N|UNC13C_ENST00000545554.1_Missense_Mutation_p.K64N	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	64					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GCACTGTAAAGAAGATTGCAA	0.423																																						uc002ack.2		NA																	0				ovary(5)|pancreas(2)	7						c.(190-192)AAG>AAT		unc-13 homolog C							85.0	86.0	86.0					15																	54305292		1852	4079	5931	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54305292G>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.192G>T	15.37:g.54305292G>T	ENSP00000260323:p.Lys64Asn						p.K64N	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	192	+			64					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.192G>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	9.667	1.145783	0.21288	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.83673	-1.75;-1.75;-1.75	5.01	1.46	0.22682	.	.	.	.	.	T	0.70002	0.3174	L	0.32530	0.975	0.40919	D	0.984297	B	0.22541	0.071	B	0.15052	0.012	T	0.64445	-0.6406	9	0.87932	D	0	.	4.0519	0.09800	0.3536:0.1894:0.4569:0.0	.	64	Q8NB66	UN13C_HUMAN	N	64	ENSP00000260323:K64N;ENSP00000438156:K64N;ENSP00000442569:K64N	ENSP00000260323:K64N	K	+	3	2	UNC13C	52092584	1.000000	0.71417	0.989000	0.46669	0.262000	0.26303	1.906000	0.39887	0.465000	0.27167	0.655000	0.94253	AAG		0.423	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		9	47	1	0	0.00448238	0.00458425	9	47				
UNC13C	440279	broad.mit.edu	37	15	54586136	54586136	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:54586136G>A	ENST00000260323.11	+	10	3862	c.3862G>A	c.(3862-3864)Gat>Aat	p.D1288N	UNC13C_ENST00000537900.1_Missense_Mutation_p.D1286N|UNC13C_ENST00000545554.1_Missense_Mutation_p.D1288N	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1288	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAGAGTATGGGATGAAGATGA	0.358																																						uc002ack.2		NA																	0				ovary(5)|pancreas(2)	7						c.(3862-3864)GAT>AAT		unc-13 homolog C							150.0	151.0	151.0					15																	54586136		1931	4132	6063	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54586136G>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3862G>A	15.37:g.54586136G>A	ENSP00000260323:p.Asp1288Asn					UNC13C_uc002acl.2_Missense_Mutation_p.D118N	p.D1288N	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	9	3862	+			1288			C2 1.		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.3862G>A	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	34	5.400417	0.96030	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.76839	-1.05;-1.05;-1.05	5.91	5.91	0.95273	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.045312	0.85682	D	0.000000	D	0.87783	0.6264	M	0.67517	2.055	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.988;0.999	D	0.87775	0.2608	10	0.72032	D	0.01	.	19.2934	0.94112	0.0:0.0:1.0:0.0	.	1288;1288	F5H090;Q8NB66	.;UN13C_HUMAN	N	1288;1288;1286	ENSP00000260323:D1288N;ENSP00000438156:D1288N;ENSP00000442569:D1286N	ENSP00000260323:D1288N	D	+	1	0	UNC13C	52373428	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.813000	0.99286	2.814000	0.96858	0.650000	0.86243	GAT		0.358	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		31	29	0	0	0	0	31	29				
CILP	8483	broad.mit.edu	37	15	65489097	65489097	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:65489097C>T	ENST00000261883.4	-	9	3693	c.3527G>A	c.(3526-3528)aGa>aAa	p.R1176K		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	1176					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TTGAGCAACTCTAGGAAATCT	0.557																																						uc002aon.2		NA																	0				ovary(4)|pancreas(2)|skin(1)	7						c.(3526-3528)AGA>AAA		cartilage intermediate layer protein							47.0	47.0	47.0					15																	65489097		2202	4299	6501	SO:0001583	missense	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65489097C>T	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.3527G>A	15.37:g.65489097C>T	ENSP00000261883:p.Arg1176Lys						p.R1176K	NM_003613	NP_003604	O75339	CILP1_HUMAN			9	3708	-			1176					B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.3527G>A	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	C	8.921	0.961126	0.18583	.	.	ENSG00000138615	ENST00000261883	T	0.35973	1.28	5.44	4.52	0.55395	.	0.879566	0.09907	N	0.740378	T	0.21427	0.0516	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05084	-1.0907	10	0.44086	T	0.13	-2.602	10.5981	0.45349	0.0:0.9112:0.0:0.0888	.	1176	O75339	CILP1_HUMAN	K	1176	ENSP00000261883:R1176K	ENSP00000261883:R1176K	R	-	2	0	CILP	63276150	0.000000	0.05858	0.556000	0.28293	0.927000	0.56198	0.554000	0.23407	2.541000	0.85698	0.561000	0.74099	AGA		0.557	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		14	30	0	0	0	0	14	30				
KIF23	9493	broad.mit.edu	37	15	69739225	69739225	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:69739225G>A	ENST00000260363.4	+	22	2929	c.2812G>A	c.(2812-2814)Gag>Aag	p.E938K	KIF23_ENST00000395392.2_Missense_Mutation_p.E930K|KIF23_ENST00000559279.1_Missense_Mutation_p.E834K|KIF23_ENST00000558585.1_Missense_Mutation_p.E651K|KIF23_ENST00000352331.4_Missense_Mutation_p.E834K|KIF23_ENST00000537891.1_Missense_Mutation_p.E651K	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	938					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TGTGGCTGTGGAGATGAGAGC	0.468																																						uc002asb.2		NA																	0					0						c.(2812-2814)GAG>AAG		kinesin family member 23 isoform 1							160.0	133.0	142.0					15																	69739225		2199	4298	6497	SO:0001583	missense	9493				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	g.chr15:69739225G>A	X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.2812G>A	15.37:g.69739225G>A	ENSP00000260363:p.Glu938Lys					KIF23_uc002asc.2_Missense_Mutation_p.E834K|KIF23_uc010bii.2_Missense_Mutation_p.E744K|KIF23_uc010ukc.1_Missense_Mutation_p.E651K	p.E938K	NM_138555	NP_612565	Q02241	KIF23_HUMAN			22	2929	+			938					Q8WVP0	Missense_Mutation	SNP	ENST00000260363.4	37	c.2812G>A	CCDS32278.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132470	0.77662	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392;ENST00000537891	T;T;T	0.78816	-1.05;-1.0;-1.21	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.87442	0.6178	M	0.70275	2.135	0.80722	D	1	B;D;B	0.71674	0.091;0.998;0.003	B;D;B	0.80764	0.028;0.994;0.004	D	0.88511	0.3089	10	0.66056	D	0.02	.	17.752	0.88438	0.0:0.0:1.0:0.0	.	651;834;938	B4E1K0;Q02241-2;Q02241	.;.;KIF23_HUMAN	K	938;834;938;651	ENSP00000260363:E938K;ENSP00000304978:E834K;ENSP00000442969:E651K	ENSP00000260363:E938K	E	+	1	0	KIF23	67526279	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	9.567000	0.98161	2.505000	0.84491	0.655000	0.94253	GAG		0.468	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding				13	70	0	0	0	0	13	70				
GOLGA6B	55889	broad.mit.edu	37	15	72953676	72953676	+	Silent	SNP	C	C	T	rs199952103	byFrequency	TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:72953676C>T	ENST00000421285.3	+	8	636	c.636C>T	c.(634-636)aaC>aaT	p.N212N		NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	212						Golgi apparatus (GO:0005794)				NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						CGCTGCTGAACGCACACGTGA	0.582																																						uc010uks.1		NA																	0					0						c.(634-636)AAC>AAT		golgi autoantigen, golgin subfamily a, 6B		C		0,2886		0,0,1443	41.0	52.0	48.0		636	-0.8	0.0	15		48	22,5108		0,22,2543	no	coding-synonymous	GOLGA6B	NM_018652.4		0,22,3986	TT,TC,CC		0.4288,0.0,0.2745		212/694	72953676	22,7994	1443	2565	4008	SO:0001819	synonymous_variant	55889							g.chr15:72953676C>T		CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6B"""				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.636C>T	15.37:g.72953676C>T							p.N212N	NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN			8	677	+			212			Potential.		A8MYY7	Silent	SNP	ENST00000421285.3	37	c.636C>T	CCDS10245.2																																																																																				0.582	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652		9	43	0	0	0	0	9	43				
CSPG4	1464	broad.mit.edu	37	15	75982533	75982533	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:75982533G>A	ENST00000308508.5	-	3	965	c.873C>T	c.(871-873)atC>atT	p.I291I		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	291	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GGTGAGCATTGATGTGGACAC	0.617																																						uc002baw.2		NA																	0				ovary(2)|pancreas(1)	3						c.(871-873)ATC>ATT		chondroitin sulfate proteoglycan 4 precursor							58.0	48.0	52.0					15																	75982533		2197	4292	6489	SO:0001819	synonymous_variant	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75982533G>A	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.873C>T	15.37:g.75982533G>A							p.I291I	NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN			3	966	-			291			Extracellular (Potential).|Neurite growth inhibition (By similarity).|Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.		D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	c.873C>T	CCDS10284.1																																																																																				0.617	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		12	34	0	0	0	0	12	34				
ISL2	64843	broad.mit.edu	37	15	76634064	76634064	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:76634064C>A	ENST00000290759.4	+	6	1128	c.968C>A	c.(967-969)tCc>tAc	p.S323Y	RP11-685G9.2_ENST00000559539.1_RNA|RP11-685G9.4_ENST00000602530.1_lincRNA	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	323					negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|peripheral nervous system neuron development (GO:0048935)|regulation of transcription, DNA-templated (GO:0006355)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord motor neuron cell fate specification (GO:0021520)|visceral motor neuron differentiation (GO:0021524)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						CCCCAGGTCTCCTTCTCCGAG	0.677																																					GBM(97;953 1391 16164 31496 36951)	uc002bbw.1		NA																	0					0						c.(967-969)TCC>TAC		ISL LIM homeobox 2							57.0	65.0	62.0					15																	76634064		2197	4294	6491	SO:0001583	missense	64843					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:76634064C>A	AK001022	CCDS10290.1	15q24.3	2012-03-09	2007-07-13		ENSG00000159556	ENSG00000159556		"""Homeoboxes / LIM class"""	18524	protein-coding gene	gene with protein product		609481	"""ISL2 transcription factor, LIM/homeodomain, (islet-2)"""				Standard	NM_145805		Approved	FLJ10160	uc002bbw.1	Q96A47	OTTHUMG00000143723	ENST00000290759.4:c.968C>A	15.37:g.76634064C>A	ENSP00000290759:p.Ser323Tyr						p.S323Y	NM_145805	NP_665804	Q96A47	ISL2_HUMAN			6	1046	+			323					B3KM37	Missense_Mutation	SNP	ENST00000290759.4	37	c.968C>A	CCDS10290.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548022	0.86022	.	.	ENSG00000159556	ENST00000290759	D	0.85484	-1.99	5.2	4.29	0.51040	.	0.055146	0.85682	D	0.000000	D	0.85305	0.5666	L	0.54323	1.7	0.58432	D	0.999994	D	0.53885	0.963	P	0.48901	0.594	D	0.86293	0.1675	10	0.72032	D	0.01	.	13.347	0.60580	0.0:0.9225:0.0:0.0775	.	323	Q96A47	ISL2_HUMAN	Y	323	ENSP00000290759:S323Y	ENSP00000290759:S323Y	S	+	2	0	ISL2	74421119	0.995000	0.38212	1.000000	0.80357	0.889000	0.51656	3.118000	0.50414	1.179000	0.42884	0.561000	0.74099	TCC		0.677	ISL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289779.1			13	66	1	0	1.36e-06	1.44e-06	13	66				
RASGRF1	5923	broad.mit.edu	37	15	79294085	79294085	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:79294085G>A	ENST00000419573.3	-	17	2816	c.2542C>T	c.(2542-2544)Cag>Tag	p.Q848*	RASGRF1_ENST00000558480.2_Nonsense_Mutation_p.Q832*|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000394745.3_Nonsense_Mutation_p.Q64*	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	848					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TCATCACTCTGGTTTTGATCA	0.318																																						uc002beq.2		NA																	0				skin(4)|ovary(1)|central_nervous_system(1)	6						c.(2542-2544)CAG>TAG		Ras protein-specific guanine							188.0	173.0	178.0					15																	79294085		2196	4293	6489	SO:0001587	stop_gained	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79294085G>A	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2542C>T	15.37:g.79294085G>A	ENSP00000405963:p.Gln848*					RASGRF1_uc002bep.2_Nonsense_Mutation_p.Q832*|RASGRF1_uc010blm.1_Nonsense_Mutation_p.Q757*|RASGRF1_uc002ber.3_Nonsense_Mutation_p.Q832*|RASGRF1_uc010unh.1_Nonsense_Mutation_p.Q243*|RASGRF1_uc002beo.2_Nonsense_Mutation_p.Q64*	p.Q848*	NM_002891	NP_002882	Q13972	RGRF1_HUMAN			17	2917	-			850					F8VPA5|H0YKF2|J3KQP9|Q16027	Nonsense_Mutation	SNP	ENST00000419573.3	37	c.2542C>T	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	G	43	10.458768	0.99409	.	.	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	.	.	.	4.88	4.88	0.63580	.	0.304152	0.32401	N	0.006154	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	13.5072	0.61491	0.0:0.0:1.0:0.0	.	.	.	.	X	848;832;64	.	ENSP00000378224:Q832X	Q	-	1	0	RASGRF1	77081140	1.000000	0.71417	0.989000	0.46669	0.964000	0.63967	8.418000	0.90250	2.256000	0.74724	0.491000	0.48974	CAG		0.318	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		47	58	0	0	0	0	47	58				
ST8SIA2	8128	broad.mit.edu	37	15	93007381	93007381	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:93007381G>C	ENST00000268164.3	+	6	1131	c.894G>C	c.(892-894)ttG>ttC	p.L298F	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.L277F	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	298					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CCGGCCTCTTGATGTATACCC	0.438																																						uc002bra.2		NA																	0					0						c.(892-894)TTG>TTC		ST8 alpha-N-acetyl-neuraminide							43.0	42.0	42.0					15																	93007381		2198	4298	6496	SO:0001583	missense	8128				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr15:93007381G>C	U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"""Sialyltransferases"""	10870	protein-coding gene	gene with protein product		602546	"""sialyltransferase 8 (alpha-2, 8-sialytransferase) B"""	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.894G>C	15.37:g.93007381G>C	ENSP00000268164:p.Leu298Phe					ST8SIA2_uc002brb.2_Missense_Mutation_p.L277F	p.L298F	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)		6	1049	+	Lung NSC(78;0.0893)|all_lung(78;0.125)		298			Lumenal (Potential).		Q4VAZ0|Q92470|Q92746	Missense_Mutation	SNP	ENST00000268164.3	37	c.894G>C	CCDS10372.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.188552	0.57909	.	.	ENSG00000140557	ENST00000268164;ENST00000539113;ENST00000555434	T;T;T	0.34667	1.35;1.35;1.35	5.8	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.41143	0.1146	L	0.35288	1.05	0.58432	D	0.999998	D;D	0.59357	0.985;0.972	P;D	0.64144	0.854;0.922	T	0.24190	-1.0167	10	0.32370	T	0.25	-15.7969	6.9684	0.24635	0.1568:0.1877:0.6554:0.0	.	277;298	C6G488;Q92186	.;SIA8B_HUMAN	F	298;277;255	ENSP00000268164:L298F;ENSP00000437382:L277F;ENSP00000450851:L255F	ENSP00000268164:L298F	L	+	3	2	ST8SIA2	90808385	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.573000	0.36472	1.456000	0.47831	0.650000	0.86243	TTG		0.438	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1	NM_006011		3	14	0	0	0	0	3	14				
SNX29	92017	broad.mit.edu	37	16	12145835	12145835	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr16:12145835G>A	ENST00000566228.1	+	8	949	c.880G>A	c.(880-882)Gac>Aac	p.D294N	SNX29_ENST00000306030.3_5'Flank|SNX29_ENST00000323433.4_5'Flank	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	294						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						GAGCTCAGAGGACAACTCCGA	0.483																																						uc002dbw.1		NA								T					CIITA		PMBL|Hodgkin Lymphona|		0				ovary(1)	1						c.(880-882)GAC>AAC		RUN domain containing 2A							69.0	79.0	76.0					16																	12145835		2197	4300	6497	SO:0001583	missense	84127							g.chr16:12145835G>A	AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.880G>A	16.37:g.12145835G>A	ENSP00000456480:p.Asp294Asn					SNX29_uc002dby.3_5'Flank	p.D294N	NM_032167	NP_115543	Q9HA26	RUN2A_HUMAN			8	942	+			294					B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	ENST00000566228.1	37	c.880G>A	CCDS10553.2	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405466	0.62288	.	.	ENSG00000140660	ENST00000268271	.	.	.	5.91	5.91	0.95273	.	0.266663	0.35739	N	0.003007	T	0.51210	0.1661	N	0.08118	0	0.80722	D	1	.	.	.	.	.	.	T	0.58267	-0.7666	7	0.59425	D	0.04	-12.6758	18.8584	0.92262	0.0:0.0:1.0:0.0	.	.	.	.	N	294	.	ENSP00000268271:D294N	D	+	1	0	RUNDC2A	12053336	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	5.954000	0.70298	2.804000	0.96469	0.462000	0.41574	GAC		0.483	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			15	52	0	0	0	0	15	52				
MYH11	4629	broad.mit.edu	37	16	15833949	15833949	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr16:15833949C>T	ENST00000300036.5	-	23	3065	c.2956G>A	c.(2956-2958)Gag>Aag	p.E986K	MYH11_ENST00000396324.3_Missense_Mutation_p.E993K|AF001548.6_ENST00000577048.1_RNA|MYH11_ENST00000576790.2_Missense_Mutation_p.E986K|MYH11_ENST00000452625.2_Missense_Mutation_p.E993K	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	986					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ACCAGGATCTCATCCTCCAGT	0.517			T	CBFB	AML																																	uc002ddy.2		NA		Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						c.(2956-2958)GAG>AAG		smooth muscle myosin heavy chain 11 isoform							157.0	138.0	144.0					16																	15833949		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15833949C>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.2956G>A	16.37:g.15833949C>T	ENSP00000300036:p.Glu986Lys					MYH11_uc002ddv.2_Missense_Mutation_p.E993K|MYH11_uc002ddw.2_Missense_Mutation_p.E986K|MYH11_uc002ddx.2_Missense_Mutation_p.E993K|MYH11_uc010bvg.2_Missense_Mutation_p.E818K	p.E986K	NM_002474	NP_002465	P35749	MYH11_HUMAN			23	3063	-			986			Potential.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.2956G>A	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783017	0.70222	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93	4.28	4.28	0.50868	.	0.335460	0.29389	N	0.012290	D	0.91253	0.7243	M	0.67569	2.06	0.37306	D	0.908916	B;B;B;B;B	0.06786	0.0;0.001;0.001;0.001;0.001	B;B;B;B;B	0.22601	0.007;0.009;0.009;0.017;0.04	D	0.91398	0.5141	10	0.87932	D	0	.	15.7506	0.77983	0.0:1.0:0.0:0.0	.	993;986;993;986;993	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	K	986;986;993;993;993	ENSP00000300036:E986K;ENSP00000345136:E986K;ENSP00000379616:E993K;ENSP00000407821:E993K	ENSP00000300036:E986K	E	-	1	0	MYH11	15741450	1.000000	0.71417	0.988000	0.46212	0.993000	0.82548	7.672000	0.83956	1.952000	0.56665	0.486000	0.48141	GAG		0.517	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		28	78	0	0	0	0	28	78				
MYH11	4629	broad.mit.edu	37	16	15841954	15841954	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr16:15841954G>C	ENST00000300036.5	-	17	2239	c.2130C>G	c.(2128-2130)atC>atG	p.I710M	MYH11_ENST00000396324.3_Missense_Mutation_p.I717M|MYH11_ENST00000576790.2_Missense_Mutation_p.I710M|MYH11_ENST00000452625.2_Missense_Mutation_p.I717M	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	710	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCTGCCGGCAGATGCGAATGC	0.637			T	CBFB	AML																																	uc002ddy.2		NA		Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						c.(2128-2130)ATC>ATG		smooth muscle myosin heavy chain 11 isoform							73.0	61.0	65.0					16																	15841954		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15841954G>C	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.2130C>G	16.37:g.15841954G>C	ENSP00000300036:p.Ile710Met					MYH11_uc002ddv.2_Missense_Mutation_p.I717M|MYH11_uc002ddw.2_Missense_Mutation_p.I710M|MYH11_uc002ddx.2_Missense_Mutation_p.I717M|MYH11_uc010bvg.2_Missense_Mutation_p.I542M	p.I710M	NM_002474	NP_002465	P35749	MYH11_HUMAN			17	2237	-			710			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.2130C>G	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644364	0.67244	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69	4.82	4.82	0.62117	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.97470	0.9172	H	0.99800	4.79	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.97502	1.0061	10	0.87932	D	0	.	10.5422	0.45039	0.0884:0.0:0.9116:0.0	.	717;710;717;710;717	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	M	710;710;717;717;717	ENSP00000300036:I710M;ENSP00000345136:I710M;ENSP00000379616:I717M;ENSP00000407821:I717M	ENSP00000300036:I710M	I	-	3	3	MYH11	15749455	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.229000	0.58625	2.224000	0.72417	0.561000	0.74099	ATC		0.637	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		15	64	0	0	0	0	15	64				
XYLT1	64131	broad.mit.edu	37	16	17221547	17221547	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr16:17221547G>A	ENST00000261381.6	-	10	2283	c.2199C>T	c.(2197-2199)gaC>gaT	p.D733D		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	733					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCCTCCCAAAGTCACTGGGTG	0.483																																						uc002dfa.2		NA																	0				ovary(4)	4						c.(2197-2199)GAC>GAT		xylosyltransferase I							162.0	165.0	164.0					16																	17221547		2197	4300	6497	SO:0001819	synonymous_variant	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17221547G>A	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2199C>T	16.37:g.17221547G>A							p.D733D	NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN			10	2284	-			733			Lumenal (Potential).		Q9H1B6	Silent	SNP	ENST00000261381.6	37	c.2199C>T	CCDS10569.1																																																																																				0.483	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		114	93	0	0	0	0	114	93				
CDH8	1006	broad.mit.edu	37	16	61935158	61935158	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr16:61935158G>A	ENST00000577390.1	-	3	1426	c.472C>T	c.(472-474)Caa>Taa	p.Q158*	CDH8_ENST00000299345.6_Nonsense_Mutation_p.Q158*|CDH8_ENST00000584337.1_Nonsense_Mutation_p.Q158*|CDH8_ENST00000577730.1_Nonsense_Mutation_p.Q158*	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	158	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTGATGTCTTGAACTTTAATA	0.433																																						uc002eog.1		NA																	0				ovary(6)|skin(2)|breast(1)	9						c.(472-474)CAA>TAA		cadherin 8, type 2 preproprotein							109.0	109.0	109.0					16																	61935158		2203	4300	6503	SO:0001587	stop_gained	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61935158G>A	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.472C>T	16.37:g.61935158G>A	ENSP00000462701:p.Gln158*						p.Q158*	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	3	724	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	158			Extracellular (Potential).|Cadherin 1.		B3KWC1|Q14DC6|Q9ULB2	Nonsense_Mutation	SNP	ENST00000577390.1	37	c.472C>T	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	G	40	8.339564	0.98767	.	.	ENSG00000150394	ENST00000299345	.	.	.	6.17	6.17	0.99709	.	0.113074	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	158	.	ENSP00000299345:Q158X	Q	-	1	0	CDH8	60492659	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	CAA		0.433	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		19	62	0	0	0	0	19	62				
HYDIN	54768	broad.mit.edu	37	16	71212846	71212846	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr16:71212846C>T	ENST00000393567.2	-	4	516	c.366G>A	c.(364-366)ttG>ttA	p.L122L	HYDIN_ENST00000321489.5_Silent_p.L122L|HYDIN_ENST00000288168.10_Silent_p.L139L|HYDIN_ENST00000393550.2_Silent_p.L122L|HYDIN_ENST00000448691.1_Silent_p.L122L|HYDIN_ENST00000538248.1_Silent_p.L149L|HYDIN_ENST00000448089.2_Silent_p.L122L|HYDIN_ENST00000541601.1_Silent_p.L139L	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	122					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CATTGTTCCTCAAAATCAGTG	0.403																																						uc002ezr.2		NA																	0				ovary(1)|skin(1)	2						c.(364-366)TTG>TTA		hydrocephalus inducing isoform a							127.0	131.0	130.0					16																	71212846		2198	4300	6498	SO:0001819	synonymous_variant	54768							g.chr16:71212846C>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.366G>A	16.37:g.71212846C>T						HYDIN_uc010cfz.1_5'UTR|HYDIN_uc002ezv.2_Silent_p.L122L|HYDIN_uc010vmc.1_Silent_p.L139L|HYDIN_uc010vmd.1_Silent_p.L149L|HYDIN_uc002ezw.3_Silent_p.L139L	p.L122L	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			4	494	-		Ovarian(137;0.0654)	122					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.366G>A	CCDS59269.1																																																																																				0.403	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			29	89	0	0	0	0	29	89				
TAT	6898	broad.mit.edu	37	16	71609874	71609874	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr16:71609874C>G	ENST00000355962.4	-	3	424	c.291G>C	c.(289-291)atG>atC	p.M97I	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	97					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	GGGCATCTTTCATTGCCTGGG	0.488																																					Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)	uc002fap.2		NA																	0				ovary(2)	2						c.(289-291)ATG>ATC		tyrosine aminotransferase	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)						134.0	133.0	133.0					16																	71609874		2198	4300	6498	SO:0001583	missense	6898				2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr16:71609874C>G		CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.291G>C	16.37:g.71609874C>G	ENSP00000348234:p.Met97Ile					TAT_uc002faq.2_Missense_Mutation_p.M97I|TAT_uc002far.2_3'UTR	p.M97I	NM_000353	NP_000344	P17735	ATTY_HUMAN		Kidney(780;0.0157)	3	390	-		Ovarian(137;0.125)	97					B2R8I1|D3DWS2	Missense_Mutation	SNP	ENST00000355962.4	37	c.291G>C	CCDS10903.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.319621	0.41096	.	.	ENSG00000198650	ENST00000355962	D	0.87491	-2.26	5.86	4.9	0.64082	Tyrosine aminotransferase (1);Aminotransferase, class I/classII (1);Tyrosine/nicotianamine aminotransferase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.099881	0.85682	D	0.000000	T	0.72661	0.3488	N	0.03177	-0.4	0.80722	D	1	B;B	0.12013	0.001;0.005	B;B	0.15052	0.008;0.012	T	0.67542	-0.5644	10	0.24483	T	0.36	-16.58	15.3836	0.74679	0.0:0.9321:0.0:0.0679	.	97;97	A1L4G7;P17735	.;ATTY_HUMAN	I	97	ENSP00000348234:M97I	ENSP00000348234:M97I	M	-	3	0	TAT	70167375	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.823000	0.55715	2.774000	0.95407	0.655000	0.94253	ATG		0.488	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268989.1			20	87	0	0	0	0	20	87				
GLG1	2734	broad.mit.edu	37	16	74527006	74527006	+	Silent	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr16:74527006C>G	ENST00000422840.2	-	7	1082	c.1083G>C	c.(1081-1083)ctG>ctC	p.L361L	GLG1_ENST00000447066.2_Silent_p.L350L|GLG1_ENST00000205061.5_Silent_p.L361L	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	361					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CCTGGGCAATCAGCTTTTGGC	0.453																																						uc002fcy.3		NA																	0				ovary(1)|breast(1)	2						c.(1081-1083)CTG>CTC		golgi apparatus protein 1 isoform 3							145.0	131.0	136.0					16																	74527006		2198	4300	6498	SO:0001819	synonymous_variant	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74527006C>G		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.1083G>C	16.37:g.74527006C>G						GLG1_uc002fcx.2_Silent_p.L361L|GLG1_uc002fcw.3_Silent_p.L350L|GLG1_uc002fcz.3_Intron	p.L361L	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN			7	1133	-			361			Cys-rich GLG1 5.|Extracellular (Potential).		B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Silent	SNP	ENST00000422840.2	37	c.1083G>C	CCDS45527.1																																																																																				0.453	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		22	62	0	0	0	0	22	62				
MBTPS1	8720	broad.mit.edu	37	16	84089658	84089658	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr16:84089658C>T	ENST00000343411.3	-	22	3409	c.2914G>A	c.(2914-2916)Gtg>Atg	p.V972M		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	972					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AAGGGCCTCACTTGAGGGCGA	0.498																																						uc002fhi.2		NA																	0				ovary(2)	2						c.(2914-2916)GTG>ATG		membrane-bound transcription factor site-1							108.0	101.0	103.0					16																	84089658		2200	4300	6500	SO:0001583	missense	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84089658C>T	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.2914G>A	16.37:g.84089658C>T	ENSP00000344223:p.Val972Met					MBTPS1_uc002fhh.2_Missense_Mutation_p.V476M	p.V972M	NM_003791	NP_003782	Q14703	MBTP1_HUMAN			22	3416	-			972			Lumenal (Potential).		A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	c.2914G>A	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.429149	0.83776	.	.	ENSG00000140943	ENST00000343411;ENST00000347334	T	0.32988	1.43	5.65	5.65	0.86999	.	0.199377	0.42294	D	0.000738	T	0.45796	0.1360	N	0.25647	0.755	0.80722	D	1	D	0.61697	0.99	D	0.72982	0.979	T	0.42172	-0.9467	10	0.62326	D	0.03	-22.8979	19.7405	0.96228	0.0:1.0:0.0:0.0	.	972	Q14703	MBTP1_HUMAN	M	972;417	ENSP00000344223:V972M	ENSP00000344223:V972M	V	-	1	0	MBTPS1	82647159	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.694000	0.84235	2.655000	0.90218	0.655000	0.94253	GTG		0.498	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		40	32	0	0	0	0	40	32				
MYBBP1A	10514	broad.mit.edu	37	17	4455427	4455427	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr17:4455427G>A	ENST00000254718.4	-	7	1204	c.898C>T	c.(898-900)Cca>Tca	p.P300S	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.P300S			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	300	Interaction with MYB. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						CACCTGGCTGGCCAGAACTGC	0.627																																						uc002fyb.3		NA																	0				ovary(1)|skin(1)	2						c.(898-900)CCA>TCA		MYB binding protein 1a isoform 2							112.0	103.0	106.0					17																	4455427		2203	4300	6503	SO:0001583	missense	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4455427G>A	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.898C>T	17.37:g.4455427G>A	ENSP00000254718:p.Pro300Ser					MYBBP1A_uc002fxz.3_Missense_Mutation_p.P300S	p.P300S	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN			7	960	-			300			Interaction with MYB (By similarity).		Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	c.898C>T	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	g	15.41	2.825703	0.50739	.	.	ENSG00000132382	ENST00000381556;ENST00000254718;ENST00000426435	T;T	0.39787	1.06;1.06	5.41	4.42	0.53409	Armadillo-type fold (1);	0.107076	0.64402	D	0.000003	T	0.50257	0.1605	L	0.59436	1.845	0.33828	D	0.629876	D;P	0.53619	0.961;0.951	P;P	0.54965	0.765;0.654	T	0.60712	-0.7209	10	0.23302	T	0.38	-13.3595	12.264	0.54668	0.0:0.0:0.8239:0.1761	.	300;300	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	S	300	ENSP00000370968:P300S;ENSP00000254718:P300S	ENSP00000254718:P300S	P	-	1	0	MYBBP1A	4402176	1.000000	0.71417	0.878000	0.34440	0.310000	0.27922	6.057000	0.71119	1.461000	0.47929	0.556000	0.70494	CCA		0.627	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		4	69	0	0	0	0	4	69				
SLC13A5	284111	broad.mit.edu	37	17	6606428	6606428	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr17:6606428G>A	ENST00000433363.2	-	5	810	c.577C>T	c.(577-579)Ctg>Ttg	p.L193L	SLC13A5_ENST00000573648.1_Silent_p.L193L|SLC13A5_ENST00000293800.6_Silent_p.L176L|SLC13A5_ENST00000381074.4_Silent_p.L150L	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	193					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						TGCTGCCCCAGAGTGGGGCCT	0.632																																						uc002gdj.2		NA																	0					0						c.(577-579)CTG>TTG		solute carrier family 13, member 5 isoform a							108.0	93.0	98.0					17																	6606428		2203	4300	6503	SO:0001819	synonymous_variant	284111					integral to membrane	citrate transmembrane transporter activity	g.chr17:6606428G>A	AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"""Solute carriers"""	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.577C>T	17.37:g.6606428G>A						SLC13A5_uc010vtf.1_Silent_p.L193L|SLC13A5_uc010clq.2_Silent_p.L150L|SLC13A5_uc002gdk.2_Silent_p.L176L|SLC13A5_uc002gdl.1_Silent_p.L175L	p.L193L	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN			5	665	-			193					B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Silent	SNP	ENST00000433363.2	37	c.577C>T	CCDS11079.1																																																																																				0.632	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2	NM_177550		25	77	0	0	0	0	25	77				
TP53	7157	broad.mit.edu	37	17	7577106	7577106	+	Missense_Mutation	SNP	G	G	A	rs17849781		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr17:7577106G>A	ENST00000269305.4	-	8	1021	c.832C>T	c.(832-834)Cct>Tct	p.P278S	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.P278S|TP53_ENST00000445888.2_Missense_Mutation_p.P278S|TP53_ENST00000359597.4_Missense_Mutation_p.P278S|TP53_ENST00000455263.2_Missense_Mutation_p.P278S|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	278	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781). {ECO:0000269|PubMed:15489334}.|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:9450901}.|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P278S(55)|p.P278A(24)|p.P278T(23)|p.0?(8)|p.P278F(3)|p.P278fs*67(3)|p.?(2)|p.P278fs*28(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C277_P278insXXXXXXX(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTCTCCCAGGACAGGCACAA	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		131	Substitution - Missense(105)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Insertion - Frameshift(2)|Unknown(2)|Insertion - In frame(1)	p.P278L(52)|p.P278S(48)|p.P278R(26)|p.P278T(21)|p.P278A(18)|p.P278H(11)|p.0?(7)|p.P278fs*67(5)|p.P278F(3)|p.P278fs*28(2)|p.?(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.V274_P278del(1)|p.P278P(1)|p.C277_P278insXXXXXXX(1)|p.F270_D281del12(1)|p.P278_G279insXXXXX(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275fs*20(1)	upper_aerodigestive_tract(19)|breast(18)|skin(16)|large_intestine(14)|oesophagus(11)|lung(11)|central_nervous_system(7)|stomach(5)|haematopoietic_and_lymphoid_tissue(5)|ovary(4)|bone(4)|kidney(3)|endometrium(3)|urinary_tract(3)|soft_tissue(2)|pancreas(2)|eye(1)|biliary_tract(1)|liver(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM011015|CM052927	TP53	M	rs17849781	c.(832-834)CCT>TCT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							72.0	62.0	65.0					17																	7577106		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577106G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.832C>T	17.37:g.7577106G>A	ENSP00000269305:p.Pro278Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.P278S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P146S|TP53_uc010cng.1_Missense_Mutation_p.P146S|TP53_uc002gii.1_Missense_Mutation_p.P146S|TP53_uc010cnh.1_Missense_Mutation_p.P278S|TP53_uc010cni.1_Missense_Mutation_p.P278S|TP53_uc002gij.2_Missense_Mutation_p.P278S	p.P278S	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1026	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	278		P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.832C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	31	5.064500	0.93898	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99881	-7.47;-7.47;-7.47;-7.47;-7.47;-7.47	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050655	0.85682	D	0.000000	D	0.99906	0.9955	M	0.92459	3.31	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.97110	0.988;1.0;0.987;0.975	D	0.96190	0.9137	10	0.87932	D	0	-13.7877	16.1198	0.81342	0.0:0.0:1.0:0.0	.	278;278;278;278	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	S	278;278;278;278;278;267;146	ENSP00000352610:P278S;ENSP00000269305:P278S;ENSP00000398846:P278S;ENSP00000391127:P278S;ENSP00000391478:P278S;ENSP00000425104:P146S	ENSP00000269305:P278S	P	-	1	0	TP53	7517831	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.573000	0.98181	2.667000	0.90743	0.462000	0.41574	CCT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		9	32	0	0	0	0	9	32				
GUCY2D	3000	broad.mit.edu	37	17	7907263	7907263	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr17:7907263C>T	ENST00000254854.4	+	3	965	c.815C>T	c.(814-816)tCc>tTc	p.S272F		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	272					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				ACCGATGGCTCCCTGGTCTTC	0.672																																						uc002gjt.2		NA																	0				skin(1)	1						c.(814-816)TCC>TTC		guanylate cyclase 2D, membrane (retina-specific)							100.0	95.0	97.0					17																	7907263		2203	4300	6503	SO:0001583	missense	3000				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chr17:7907263C>T	L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.815C>T	17.37:g.7907263C>T	ENSP00000254854:p.Ser272Phe						p.S272F	NM_000180	NP_000171	Q02846	GUC2D_HUMAN			3	889	+		Prostate(122;0.157)	272			Extracellular (Potential).		Q6LEA7	Missense_Mutation	SNP	ENST00000254854.4	37	c.815C>T	CCDS11127.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.613365	0.66672	.	.	ENSG00000132518	ENST00000254854	T	0.74526	-0.85	4.77	3.76	0.43208	Extracellular ligand-binding receptor (1);	0.451987	0.19057	N	0.123878	T	0.77519	0.4142	L	0.61218	1.895	0.09310	N	1	P	0.52463	0.953	P	0.50860	0.652	T	0.70809	-0.4771	10	0.59425	D	0.04	.	13.447	0.61146	0.1567:0.8433:0.0:0.0	.	272	Q02846	GUC2D_HUMAN	F	272	ENSP00000254854:S272F	ENSP00000254854:S272F	S	+	2	0	GUCY2D	7847988	0.000000	0.05858	0.996000	0.52242	0.989000	0.77384	0.778000	0.26732	2.479000	0.83701	0.561000	0.74099	TCC		0.672	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2			29	96	0	0	0	0	29	96				
KRT34	3885	broad.mit.edu	37	17	39538614	39538614	+	Missense_Mutation	SNP	G	G	A	rs569309278		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr17:39538614G>A	ENST00000394001.1	-	1	41	c.11C>T	c.(10-12)gCc>gTc	p.A4V		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	4	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				TGGGGGCTTGGCATACAGCAT	0.433													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19790	0.0		0.0	False		,,,				2504	0.0					uc002hwm.2		NA																	0				central_nervous_system(1)	1						c.(10-12)GCC>GTC		keratin 34							67.0	67.0	67.0					17																	39538614		2203	4300	6503	SO:0001583	missense	3885				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39538614G>A	Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6452	protein-coding gene	gene with protein product	"""hard keratin type I 4"""	602763	"""keratin, hair, acidic, 4"""	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.11C>T	17.37:g.39538614G>A	ENSP00000377570:p.Ala4Val						p.A4V	NM_021013	NP_066293	O76011	KRT34_HUMAN			1	23	-		Breast(137;0.000496)	4			Head.		Q8IUT8|Q8N4W2	Missense_Mutation	SNP	ENST00000394001.1	37	c.11C>T	CCDS11390.1	.	.	.	.	.	.	.	.	.	.	g	11.43	1.637426	0.29157	.	.	ENSG00000131737	ENST00000251648	.	.	.	6.0	1.37	0.22104	.	.	.	.	.	T	0.16642	0.0400	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.20240	-1.0281	8	0.87932	D	0	.	2.8126	0.05446	0.2272:0.1176:0.523:0.1321	.	4	O76011	KRT34_HUMAN	V	4	.	ENSP00000251648:A4V	A	-	2	0	KRT34	36792140	0.968000	0.33430	0.188000	0.23233	0.966000	0.64601	0.537000	0.23144	0.429000	0.26202	0.655000	0.94253	GCC		0.433	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257304.3	NM_021013		16	15	0	0	0	0	16	15				
WNT3	7473	broad.mit.edu	37	17	44851102	44851102	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr17:44851102C>T	ENST00000225512.5	-	2	416	c.254G>A	c.(253-255)cGg>cAg	p.R85Q		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	85					anterior/posterior axis specification (GO:0009948)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell fate commitment (GO:0045165)|cell morphogenesis (GO:0000902)|cellular response to retinoic acid (GO:0071300)|dorsal/ventral axis specification (GO:0009950)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|gamete generation (GO:0007276)|head morphogenesis (GO:0060323)|limb bud formation (GO:0060174)|mammary gland epithelium development (GO:0061180)|mesoderm formation (GO:0001707)|negative regulation of axon extension involved in axon guidance (GO:0048843)|neuron differentiation (GO:0030182)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of gene expression (GO:0010628)|Spemann organizer formation at the anterior end of the primitive streak (GO:0060064)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GCGGCGGCCCCGGAACTGGTG	0.647																																						uc002ikv.2		NA																	0				lung(2)	2						c.(253-255)CGG>CAG		wingless-type MMTV integration site family,							39.0	45.0	43.0					17																	44851102		2201	4299	6500	SO:0001583	missense	7473				canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity	g.chr17:44851102C>T	AY009397	CCDS11505.1	17q21-q22	2013-02-28				ENSG00000108379		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12782	protein-coding gene	gene with protein product	"""WNT-3 proto-oncogene protein"""	165330		INT4		8244403	Standard	NM_030753		Approved	MGC131950, MGC138321, MGC138323	uc002ikv.3	P56703		ENST00000225512.5:c.254G>A	17.37:g.44851102C>T	ENSP00000225512:p.Arg85Gln						p.R85Q	NM_030753	NP_110380	P56703	WNT3_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)		2	373	-			85					Q2M237|Q9H1J9	Missense_Mutation	SNP	ENST00000225512.5	37	c.254G>A	CCDS11505.1	.	.	.	.	.	.	.	.	.	.	C	35	5.539454	0.96474	.	.	ENSG00000108379	ENST00000225512	T	0.77620	-1.11	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	D	0.86410	0.5926	M	0.63169	1.94	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87838	0.2649	10	0.62326	D	0.03	.	17.2057	0.86917	0.0:1.0:0.0:0.0	.	85	P56703	WNT3_HUMAN	Q	85	ENSP00000225512:R85Q	ENSP00000225512:R85Q	R	-	2	0	WNT3	42206265	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.707000	0.61852	2.283000	0.76528	0.462000	0.41574	CGG		0.647	WNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440427.1	NM_030753		34	16	0	0	0	0	34	16				
RAD51C	5889	broad.mit.edu	37	17	56770070	56770070	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr17:56770070G>A	ENST00000337432.4	+	1	137	c.66G>A	c.(64-66)gcG>gcA	p.A22A	TEX14_ENST00000349033.5_5'Flank|RAD51C_ENST00000421782.2_Silent_p.A22A|RAD51C_ENST00000583539.1_Silent_p.A22A|TEX14_ENST00000389934.3_5'Flank|RAD51C_ENST00000487921.1_Intron|TEX14_ENST00000240361.8_5'Flank	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	22	Required for Holliday junction resolution activity.				blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|female meiosis sister chromatid cohesion (GO:0007066)|male meiosis I (GO:0007141)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)|sister chromatid cohesion (GO:0007062)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGTCTCCAGCGGTGCGGGTGA	0.587								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2																													uc002iwu.2		NA																	0					0						c.(64-66)GCG>GCA	Homologous_recombination	RAD51 homolog C isoform 1							86.0	84.0	84.0					17																	56770070		2203	4300	6503	SO:0001819	synonymous_variant	5889	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2	Familial Cancer Database	BRCAX	blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr17:56770070G>A	AF029670	CCDS11611.1, CCDS45745.1	17q25.1	2014-09-17	2013-07-02		ENSG00000108384	ENSG00000108384		"""Fanconi anemia, complementation groups"""	9820	protein-coding gene	gene with protein product		602774	"""RAD51 (S. cerevisiae) homolog C"", ""RAD51 homolog C (S. cerevisiae)"""			9469824, 22167183	Standard	NM_058216		Approved	RAD51L2, FANCO	uc002iwu.3	O43502	OTTHUMG00000141292	ENST00000337432.4:c.66G>A	17.37:g.56770070G>A						TEX14_uc002iwr.1_5'Flank|TEX14_uc002iws.1_5'Flank|TEX14_uc010dcz.1_5'Flank|TEX14_uc010dda.1_5'Flank|TEX14_uc010wnz.1_5'Flank|RAD51C_uc002iwt.1_Silent_p.A22A|RAD51C_uc010woa.1_Silent_p.A22A|RAD51C_uc010ddc.2_RNA|RAD51C_uc002iwv.2_RNA|RAD51C_uc002iww.2_RNA|RAD51C_uc010wob.1_Intron	p.A22A	NM_058216	NP_478123	O43502	RA51C_HUMAN			1	108	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		22					O43503|Q3B783	Silent	SNP	ENST00000337432.4	37	c.66G>A	CCDS11611.1																																																																																				0.587	RAD51C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280540.2	NM_058216		37	16	0	0	0	0	37	16				
BRIP1	83990	broad.mit.edu	37	17	59761063	59761063	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr17:59761063G>A	ENST00000259008.2	-	20	3611	c.3344C>T	c.(3343-3345)tCc>tTc	p.S1115F		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1115					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						ATTTGAAGTGGACTGTTTATC	0.353			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														uc002izk.1		NA	yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	F|N|Mis	BRCA1 interacting protein C-terminal helicase 1			"""L, E"""		AML|leukemia|breast			0				ovary(1)	1						c.(3343-3345)TCC>TTC	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	BRCA1 interacting protein C-terminal helicase 1							89.0	89.0	89.0					17																	59761063		2203	4300	6503	SO:0001583	missense	83990	Fanconi_Anemia			DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59761063G>A	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.3344C>T	17.37:g.59761063G>A	ENSP00000259008:p.Ser1115Phe						p.S1115F	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN			20	3485	-			1115					Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	c.3344C>T	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.223274	0.39300	.	.	ENSG00000136492	ENST00000259008	T	0.77489	-1.1	5.59	5.59	0.84812	.	0.431920	0.22104	N	0.064576	T	0.79003	0.4373	L	0.29908	0.895	0.80722	D	1	D	0.58970	0.984	P	0.57371	0.819	T	0.76353	-0.2990	9	.	.	.	-0.7419	16.6831	0.85298	0.0:0.0:1.0:0.0	.	1115	Q9BX63	FANCJ_HUMAN	F	1115	ENSP00000259008:S1115F	.	S	-	2	0	BRIP1	57115845	0.977000	0.34250	0.011000	0.14972	0.199000	0.23934	3.975000	0.56859	2.782000	0.95742	0.557000	0.71058	TCC		0.353	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		44	17	0	0	0	0	44	17				
RAB31	11031	broad.mit.edu	37	18	9708423	9708423	+	Silent	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr18:9708423C>G	ENST00000578921.1	+	1	262	c.21C>G	c.(19-21)ctC>ctG	p.L7L		NM_006868.3	NP_006859.2	Q13636	RAB31_HUMAN	RAB31, member RAS oncogene family	6					cellular response to insulin stimulus (GO:0032869)|Golgi to plasma membrane protein transport (GO:0043001)|GTP catabolic process (GO:0006184)|phagosome maturation (GO:0090382)|receptor internalization (GO:0031623)|regulated secretory pathway (GO:0045055)|small GTPase mediated signal transduction (GO:0007264)	early endosome (GO:0005769)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(2)|large_intestine(2)|lung(3)|skin(1)	10						TACGGGAGCTCAAAGTGTGCC	0.746																																						uc002kog.2		NA																	0				skin(1)	1						c.(19-21)CTC>CTG		RAB31, member RAS oncogene family							18.0	22.0	20.0					18																	9708423		1567	3578	5145	SO:0001819	synonymous_variant	11031				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr18:9708423C>G	U59877	CCDS45826.1	18p11.22	2014-03-18			ENSG00000168461	ENSG00000168461		"""RAB, member RAS oncogene"""	9771	protein-coding gene	gene with protein product		605694				8863739	Standard	NM_006868		Approved	Rab22B	uc002kog.2	Q13636	OTTHUMG00000178513	ENST00000578921.1:c.21C>G	18.37:g.9708423C>G							p.L7L	NM_006868	NP_006859	Q13636	RAB31_HUMAN			1	196	+			6					B2RBT7|Q15770|Q9HC00	Silent	SNP	ENST00000578921.1	37	c.21C>G	CCDS45826.1																																																																																				0.746	RAB31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442280.3			4	18	0	0	0	0	4	18				
POTEC	388468	broad.mit.edu	37	18	14513720	14513720	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr18:14513720C>T	ENST00000358970.5	-	10	1473	c.1474G>A	c.(1474-1476)Gag>Aag	p.E492K		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	492										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GTCAGAATCTCATCTTGTGAT	0.313																																						uc010dln.2		NA																	0				skin(3)	3						c.(1474-1476)GAG>AAG		ANKRD26-like family B, member 2							34.0	31.0	32.0					18																	14513720		692	1572	2264	SO:0001583	missense	388468							g.chr18:14513720C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1474G>A	18.37:g.14513720C>T	ENSP00000351856:p.Glu492Lys					POTEC_uc010xaj.1_RNA	p.E492K	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			10	1928	-			492			Potential.			Missense_Mutation	SNP	ENST00000358970.5	37	c.1474G>A	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.427959	0.01117	.	.	ENSG00000183206	ENST00000358970	T	0.27557	1.66	1.53	0.617	0.17619	.	.	.	.	.	T	0.20210	0.0486	L	0.47716	1.5	0.09310	N	1	B	0.34214	0.442	B	0.26416	0.069	T	0.15607	-1.0431	9	0.44086	T	0.13	.	3.7111	0.08420	0.0:0.746:0.0:0.254	.	492	B2RU33	POTEC_HUMAN	K	492	ENSP00000351856:E492K	ENSP00000351856:E492K	E	-	1	0	POTEC	14503720	0.976000	0.34144	0.036000	0.18154	0.028000	0.11728	1.533000	0.36040	0.194000	0.20326	0.205000	0.17691	GAG		0.313	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		4	36	0	0	0	0	4	36				
ANKRD30B	374860	broad.mit.edu	37	18	14851748	14851748	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr18:14851748G>C	ENST00000358984.4	+	36	3628	c.3448G>C	c.(3448-3450)Gtt>Ctt	p.V1150L		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1150										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GCAGCTTAAAGTTCTGACGGC	0.373																																						uc010dlo.2		NA																	0				ovary(1)|skin(1)	2						c.(3448-3450)GTT>CTT		ankyrin repeat domain 30B							22.0	23.0	22.0					18																	14851748		688	1581	2269	SO:0001583	missense	374860							g.chr18:14851748G>C	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.3448G>C	18.37:g.14851748G>C	ENSP00000351875:p.Val1150Leu					ANKRD30B_uc010xal.1_Missense_Mutation_p.V292L	p.V1150L	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN			36	3628	+			1235			Potential.		B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.3448G>C	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	G	6.357	0.433880	0.12045	.	.	ENSG00000180777	ENST00000358984;ENST00000320584;ENST00000277669	T	0.14766	2.48	1.39	0.463	0.16700	.	.	.	.	.	T	0.10208	0.0250	L	0.58583	1.82	0.58432	D	0.999997	B;P	0.35780	0.386;0.52	B;B	0.30029	0.035;0.11	T	0.21861	-1.0233	9	0.22706	T	0.39	.	5.5564	0.17119	0.2066:0.0:0.7934:0.0	.	1235;1150	Q9BXX2;F8WAG3	AN30B_HUMAN;.	L	1150;544;570	ENSP00000351875:V1150L	ENSP00000277669:V570L	V	+	1	0	ANKRD30B	14841748	1.000000	0.71417	0.312000	0.25196	0.045000	0.14185	1.473000	0.35387	0.147000	0.19030	0.173000	0.16961	GTT		0.373	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		12	10	0	0	0	0	12	10				
CDH2	1000	broad.mit.edu	37	18	25568547	25568547	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr18:25568547C>T	ENST00000269141.3	-	11	2105	c.1682G>A	c.(1681-1683)cGa>cAa	p.R561Q	CDH2_ENST00000399380.3_Missense_Mutation_p.R530Q	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	561	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGGTGATTCTCGGTCCAAAAC	0.333																																						uc002kwg.2		NA																	0				ovary(3)|lung(1)	4						c.(1681-1683)CGA>CAA		cadherin 2, type 1 preproprotein							124.0	128.0	127.0					18																	25568547		2203	4300	6503	SO:0001583	missense	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25568547C>T	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1682G>A	18.37:g.25568547C>T	ENSP00000269141:p.Arg561Gln					CDH2_uc010xbn.1_Missense_Mutation_p.R530Q	p.R561Q	NM_001792	NP_001783	P19022	CADH2_HUMAN			11	2141	-			561			Extracellular (Potential).|Cadherin 4.		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.1682G>A	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	C	36	5.660358	0.96734	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.59364	0.27;0.27	5.52	5.52	0.82312	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.86418	0.5928	H	0.99211	4.47	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;P	0.65233	0.933;0.832	D	0.91931	0.5555	10	0.87932	D	0	.	19.7885	0.96447	0.0:1.0:0.0:0.0	.	530;561	A8MWK3;P19022	.;CADH2_HUMAN	Q	561;530	ENSP00000269141:R561Q;ENSP00000382312:R530Q	ENSP00000269141:R561Q	R	-	2	0	CDH2	23822545	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.439000	0.80444	2.752000	0.94435	0.655000	0.94253	CGA		0.333	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		12	20	0	0	0	0	12	20				
ASXL3	80816	broad.mit.edu	37	18	31324115	31324115	+	Missense_Mutation	SNP	G	G	C	rs144287211	byFrequency	TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr18:31324115G>C	ENST00000269197.5	+	12	4303	c.4303G>C	c.(4303-4305)Gaa>Caa	p.E1435Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1435					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GTTAAGTGCTGAAAGCTTGGA	0.488											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010dmg.1		NA																	0				ovary(2)|pancreas(1)	3						c.(4303-4305)GAA>CAA		additional sex combs like 3							112.0	117.0	115.0					18																	31324115		1969	4154	6123	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31324115G>C	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.4303G>C	18.37:g.31324115G>C	ENSP00000269197:p.Glu1435Gln		OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	823	ASXL3_uc002kxq.2_Missense_Mutation_p.E1142Q	p.E1435Q	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	4358	+			1435					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.4303G>C	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.851771	0.71719	.	.	ENSG00000141431	ENST00000269197	T	0.17054	2.3	6.17	6.17	0.99709	.	.	.	.	.	T	0.24890	0.0604	L	0.27053	0.805	0.40780	D	0.983166	D	0.57899	0.981	P	0.52109	0.69	T	0.00276	-1.1855	9	0.54805	T	0.06	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1435	Q9C0F0	ASXL3_HUMAN	Q	1435	ENSP00000269197:E1435Q	ENSP00000269197:E1435Q	E	+	1	0	ASXL3	29578113	1.000000	0.71417	0.983000	0.44433	0.969000	0.65631	5.081000	0.64444	2.941000	0.99782	0.655000	0.94253	GAA		0.488	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			37	176	0	0	0	0	37	176				
MBP	4155	broad.mit.edu	37	18	74729142	74729142	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr18:74729142C>G	ENST00000397860.3	-	4	436	c.222G>C	c.(220-222)aaG>aaC	p.K74N	MBP_ENST00000580402.1_Missense_Mutation_p.K74N|MBP_ENST00000579129.1_Missense_Mutation_p.K74N|MBP_ENST00000397863.1_Missense_Mutation_p.K74N|MBP_ENST00000527041.1_5'Flank|MBP_ENST00000487778.1_5'UTR|MBP_ENST00000528160.1_5'Flank|MBP_ENST00000397869.3_5'Flank|MBP_ENST00000526111.1_5'Flank|MBP_ENST00000382582.3_5'Flank|MBP_ENST00000397866.4_5'Flank|MBP_ENST00000355994.2_Missense_Mutation_p.K74N|MBP_ENST00000397875.3_5'Flank|MBP_ENST00000354542.4_5'UTR|MBP_ENST00000578193.1_5'Flank|MBP_ENST00000397865.5_5'Flank|MBP_ENST00000359645.3_5'Flank	NM_001025100.1	NP_001020271.1	P13727	PRG2_HUMAN	myelin basic protein	0					defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	Sargramostim(DB00020)	GCCAGGCATTCTTCGGGTCCG	0.607																																					NSCLC(17;72 1131 19392)	uc010xfd.1		NA																	0				haematopoietic_and_lymphoid_tissue(1)	1						c.(220-222)AAG>AAC		Golli-mbp isoform 1							69.0	68.0	68.0					18																	74729142		2203	4300	6503	SO:0001583	missense	4155				central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath	g.chr18:74729142C>G		CCDS12011.1, CCDS32847.1, CCDS42448.1, CCDS42449.1, CCDS42450.1	18q23	2008-08-01			ENSG00000197971	ENSG00000197971			6925	protein-coding gene	gene with protein product		159430				2425357	Standard	XM_005266699		Approved		uc010xfd.2	P02686	OTTHUMG00000132874	ENST00000397860.3:c.222G>C	18.37:g.74729142C>G	ENSP00000380958:p.Lys74Asn					MBP_uc002lml.2_5'Flank|MBP_uc002lmn.2_5'Flank|MBP_uc002lmp.2_5'Flank|MBP_uc010xfe.1_5'UTR|MBP_uc002lmr.2_Missense_Mutation_p.K74N	p.K74N	NM_001025101	NP_001020272	P02686	MBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	4	486	-		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	74					A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	ENST00000397860.3	37	c.222G>C	CCDS42450.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.272664	0.40194	.	.	ENSG00000197971	ENST00000355994;ENST00000397863;ENST00000397860	.	.	.	5.18	4.3	0.51218	.	0.211885	0.39759	N	0.001274	T	0.46229	0.1382	L	0.40543	1.245	0.30167	N	0.801647	B;B	0.10296	0.002;0.003	B;B	0.14578	0.002;0.011	T	0.47749	-0.9093	9	0.46703	T	0.11	.	15.9142	0.79500	0.0:0.8648:0.1352:0.0	.	74;74	P02686;P02686-2	MBP_HUMAN;.	N	74	.	ENSP00000348273:K74N	K	-	3	2	MBP	72858130	1.000000	0.71417	0.970000	0.41538	0.986000	0.74619	4.623000	0.61247	1.158000	0.42547	0.644000	0.83932	AAG		0.607	MBP-005	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267945.1	NM_001025081		20	9	0	0	0	0	20	9				
HMHA1	23526	broad.mit.edu	37	19	1085820	1085820	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:1085820G>A	ENST00000313093.2	+	23	3457	c.3226G>A	c.(3226-3228)Gag>Aag	p.E1076K	HMHA1_ENST00000543365.1_Missense_Mutation_p.E959K|POLR2E_ENST00000585838.1_5'Flank|HMHA1_ENST00000536472.1_Missense_Mutation_p.E944K|HMHA1_ENST00000591169.1_3'UTR|HMHA1_ENST00000539243.2_Missense_Mutation_p.E1092K|HMHA1_ENST00000590577.1_Missense_Mutation_p.E711K|HMHA1_ENST00000586866.1_Missense_Mutation_p.E1080K|HMHA1_ENST00000590214.1_Missense_Mutation_p.E1103K	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	1076					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCAGTGAGGAGCAGCTGGA	0.672																																						uc002lqz.1		NA																	0				lung(1)	1						c.(3226-3228)GAG>AAG		minor histocompatibility antigen HA-1							22.0	29.0	27.0					19																	1085820		2193	4286	6479	SO:0001583	missense	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1085820G>A	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.3226G>A	19.37:g.1085820G>A	ENSP00000316772:p.Glu1076Lys					HMHA1_uc010xgd.1_Missense_Mutation_p.E1092K|HMHA1_uc010xge.1_Missense_Mutation_p.E944K|HMHA1_uc002lra.1_Missense_Mutation_p.E916K|HMHA1_uc002lrb.1_Missense_Mutation_p.E959K|HMHA1_uc002lrc.1_Missense_Mutation_p.E711K|HMHA1_uc002lrd.1_Missense_Mutation_p.E152K|HMHA1_uc010dsd.1_Missense_Mutation_p.E182K	p.E1076K	NM_012292	NP_036424	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	23	3457	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	1076					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	37	c.3226G>A	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.621061	0.46736	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.24151	1.89;1.93;1.92;1.87	4.3	3.17	0.36434	.	0.211332	0.23181	U	0.051017	T	0.22513	0.0543	L	0.29908	0.895	0.27602	N	0.94894	P;P;P;P;P;P	0.51537	0.775;0.946;0.666;0.851;0.775;0.91	B;P;B;B;B;B	0.48840	0.225;0.592;0.112;0.112;0.225;0.388	T	0.03662	-1.1015	10	0.35671	T	0.21	-29.0548	9.258	0.37595	0.0:0.2214:0.7786:0.0	.	944;1092;958;711;959;1076	F5H4A3;F6QP70;B3KXW7;B3KVA9;F5H1R4;Q92619	.;.;.;.;.;HMHA1_HUMAN	K	1092;1076;944;1070;959	ENSP00000439601:E1092K;ENSP00000316772:E1076K;ENSP00000445109:E944K;ENSP00000438979:E959K	ENSP00000316772:E1076K	E	+	1	0	HMHA1	1036820	0.649000	0.27322	0.787000	0.31911	0.008000	0.06430	2.481000	0.45215	1.950000	0.56595	0.455000	0.32223	GAG		0.672	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			12	18	0	0	0	0	12	18				
MEX3D	399664	broad.mit.edu	37	19	1556757	1556757	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:1556757C>T	ENST00000402693.4	-	2	760	c.761G>A	c.(760-762)cGc>cAc	p.R254H	MEX3D_ENST00000388824.6_Missense_Mutation_p.R254H|AC027307.2_ENST00000581992.1_RNA|AC027307.1_ENST00000410788.1_RNA	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	254					mRNA destabilization (GO:0061157)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCTTGCTGCGCGTGGCGCG	0.706																																						uc010dsn.2		NA																	0				lung(1)	1						c.(760-762)CGC>CAC		ring finger and KH domain containing 1							19.0	21.0	20.0					19																	1556757		2196	4277	6473	SO:0001583	missense	399664				mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding	g.chr19:1556757C>T	AB107353	CCDS32865.2	19p13.3	2013-08-21	2013-08-21	2007-07-18	ENSG00000181588	ENSG00000181588		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	16734	protein-coding gene	gene with protein product	"""bcl-2 ARE RNA binding protein"""	611009	"""ring finger and KH domain containing 1"", ""mex-3 homolog D (C. elegans)"""	RKHD1		17267406	Standard	NM_203304		Approved	Tino, KIAA2031, OK/SW-cl.4, RNF193	uc010dsn.3	Q86XN8	OTTHUMG00000150369	ENST00000402693.4:c.761G>A	19.37:g.1556757C>T	ENSP00000384398:p.Arg254His						p.R254H	NM_203304	NP_976049	Q86XN8	MEX3D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	761	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	254					A0PJL8|A1L023|E9PAL6|Q71M49	Missense_Mutation	SNP	ENST00000402693.4	37	c.761G>A	CCDS32865.2	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492745	0.64074	.	.	ENSG00000181588	ENST00000355663;ENST00000402693;ENST00000388824	T;T	0.56444	0.47;0.46	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.73071	0.3540	M	0.78344	2.41	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.78142	-0.2319	10	0.87932	D	0	-25.16	16.4484	0.83959	0.0:1.0:0.0:0.0	.	254	Q86XN8	MEX3D_HUMAN	H	144;254;254	ENSP00000384398:R254H;ENSP00000373476:R254H	ENSP00000347885:R144H	R	-	2	0	MEX3D	1507757	1.000000	0.71417	0.978000	0.43139	0.010000	0.07245	7.457000	0.80775	2.125000	0.65367	0.491000	0.48974	CGC		0.706	MEX3D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317870.2	NM_203304		16	41	0	0	0	0	16	41				
TIMM13	26517	broad.mit.edu	37	19	2427036	2427036	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:2427036G>C	ENST00000215570.3	-	3	558	c.198C>G	c.(196-198)atC>atG	p.I66M	LMNB2_ENST00000475819.1_5'Flank|TIMM13_ENST00000591871.1_Missense_Mutation_p.I51M	NM_012458.2	NP_036590.1	Q9Y5L4	TIM13_HUMAN	translocase of inner mitochondrial membrane 13 homolog (yeast)	66					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein transport (GO:0072321)|protein targeting to mitochondrion (GO:0006626)|sensory perception of sound (GO:0007605)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space protein transporter complex (GO:0042719)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	zinc ion binding (GO:0008270)			endometrium(1)|prostate(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCACATGGCGATGCACTTCT	0.706																																						uc002lvx.1		NA																	0					0						c.(196-198)ATC>ATG		translocase of inner mitochondrial membrane 13							42.0	29.0	33.0					19																	2427036		2200	4296	6496	SO:0001583	missense	26517				protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport	mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex	protein binding|zinc ion binding	g.chr19:2427036G>C	AF152352	CCDS12089.1	19p13.3	2008-07-04	2001-11-28	2002-03-17		ENSG00000099800			11816	protein-coding gene	gene with protein product		607383	"""translocase of inner mitochondrial membrane 13 (yeast) homolog B"""	TIMM13B		10552927, 17329230	Standard	NM_012458		Approved	Tim13	uc002lvx.1	Q9Y5L4		ENST00000215570.3:c.198C>G	19.37:g.2427036G>C	ENSP00000215570:p.Ile66Met						p.I66M	NM_012458	NP_036590	Q9Y5L4	TIM13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	542	-		Hepatocellular(1079;0.137)	66			Twin CX3C motif.		P62206|Q9UHL8|Q9WTL1	Missense_Mutation	SNP	ENST00000215570.3	37	c.198C>G	CCDS12089.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.371243	0.61624	.	.	ENSG00000099800	ENST00000215570	T	0.67865	-0.29	4.51	0.634	0.17718	.	0.134744	0.48286	D	0.000197	T	0.73473	0.3591	.	.	.	0.54753	D	0.999984	D	0.62365	0.991	D	0.65684	0.937	T	0.70517	-0.4850	9	0.87932	D	0	-10.6345	3.4873	0.07625	0.3484:0.0:0.4662:0.1854	.	66	Q9Y5L4	TIM13_HUMAN	M	66	ENSP00000215570:I66M	ENSP00000215570:I66M	I	-	3	3	TIMM13	2378036	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	1.425000	0.34859	0.308000	0.22923	0.313000	0.20887	ATC		0.706	TIMM13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451333.1			5	7	0	0	0	0	5	7				
ZNF555	148254	broad.mit.edu	37	19	2853240	2853240	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:2853240G>C	ENST00000334241.4	+	4	1315	c.1177G>C	c.(1177-1179)Gag>Cag	p.E393Q	ZNF555_ENST00000591539.1_Missense_Mutation_p.E392Q|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	393					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCATGGTGGAGAGAAACCCTA	0.493																																						uc002lwo.2		NA																	0				ovary(1)	1						c.(1177-1179)GAG>CAG		zinc finger protein 555							74.0	63.0	67.0					19																	2853240		2203	4300	6503	SO:0001583	missense	148254				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2853240G>C	AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"""Zinc fingers, C2H2-type"", ""-"""	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.1177G>C	19.37:g.2853240G>C	ENSP00000334853:p.Glu393Gln					ZNF555_uc002lwn.3_Missense_Mutation_p.E392Q	p.E393Q	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1266	+			393					A8KA89|K7EQM2|Q8NA46|Q96MP1	Missense_Mutation	SNP	ENST00000334241.4	37	c.1177G>C	CCDS12096.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.142449	0.57044	.	.	ENSG00000186300	ENST00000334241;ENST00000382127	T	0.25912	1.77	3.22	3.22	0.36961	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44265	0.1285	L	0.58810	1.83	0.33107	D	0.539965	P;D	0.89917	0.846;1.0	B;D	0.69654	0.234;0.965	T	0.58126	-0.7691	9	0.72032	D	0.01	.	12.2446	0.54563	0.0:0.0:1.0:0.0	.	393;392	Q8NEP9;A8KA89	ZN555_HUMAN;.	Q	393;392	ENSP00000334853:E393Q	ENSP00000334853:E393Q	E	+	1	0	ZNF555	2804240	0.648000	0.27313	0.978000	0.43139	0.994000	0.84299	2.156000	0.42310	1.799000	0.52666	0.561000	0.74099	GAG		0.493	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451637.3	NM_152791		11	23	0	0	0	0	11	23				
NCLN	56926	broad.mit.edu	37	19	3192541	3192541	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:3192541C>T	ENST00000246117.4	+	2	689	c.258C>T	c.(256-258)ctC>ctT	p.L86L	NCLN_ENST00000590671.1_Silent_p.L12L	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	86					regulation of signal transduction (GO:0009966)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGCGTGCTCATGCGGCTAC	0.697																																						uc002lxi.2		NA																	0					0						c.(256-258)CTC>CTT		nicalin precursor							17.0	18.0	18.0					19																	3192541		2180	4238	6418	SO:0001819	synonymous_variant	56926				proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding	g.chr19:3192541C>T	BC025926	CCDS32869.1	19p13.3	2010-08-13	2010-08-13			ENSG00000125912			26923	protein-coding gene	gene with protein product	"""nicastrin-like protein"""	609156	"""nicalin homolog (zebrafish)"""			11230166	Standard	NM_020170		Approved	NICALIN, NET59	uc002lxi.3	Q969V3		ENST00000246117.4:c.258C>T	19.37:g.3192541C>T						NCLN_uc002lxh.1_RNA	p.L86L	NM_020170	NP_064555	Q969V3	NCLN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)	2	412	+		Hepatocellular(1079;0.137)	86			Lumenal (Potential).		D6W613|O75252|Q6FI60|Q6ZMB7|Q8TAT7|Q96H48|Q96IS7|Q9BQH9|Q9BTX4|Q9NPP2	Silent	SNP	ENST00000246117.4	37	c.258C>T	CCDS32869.1																																																																																				0.697	NCLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452545.1	NM_020170		6	18	0	0	0	0	6	18				
MUC16	94025	broad.mit.edu	37	19	9084208	9084208	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:9084208A>G	ENST00000397910.4	-	1	7810	c.7607T>C	c.(7606-7608)aTt>aCt	p.I2536T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2536	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCTGGTTCAATAGTTGATGC	0.507																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(7606-7608)ATT>ACT		mucin 16							85.0	88.0	87.0					19																	9084208		2113	4248	6361	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9084208A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.7607T>C	19.37:g.9084208A>G	ENSP00000381008:p.Ile2536Thr						p.I2536T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	7811	-			2536			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.7607T>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	3.817	-0.038560	0.07497	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	0.225	0.225	0.15325	.	.	.	.	.	T	0.02970	0.0088	N	0.08118	0	.	.	.	P	0.47106	0.89	P	0.52554	0.702	T	0.45789	-0.9237	7	0.87932	D	0	.	.	.	.	.	2536	B5ME49	.	T	2536	ENSP00000381008:I2536T	ENSP00000381008:I2536T	I	-	2	0	MUC16	8945208	0.114000	0.22134	0.445000	0.26908	0.453000	0.32348	-0.200000	0.09478	0.257000	0.21650	0.254000	0.18369	ATT		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		12	29	0	0	0	0	12	29				
ZNF560	147741	broad.mit.edu	37	19	9578107	9578107	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:9578107G>C	ENST00000301480.4	-	10	1729	c.1516C>G	c.(1516-1518)Cat>Gat	p.H506D		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	506					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GTTCTCAAATGAGCAAAAAGA	0.413																																						uc002mlp.1		NA																	0				skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6						c.(1516-1518)CAT>GAT		zinc finger protein 560							115.0	122.0	120.0					19																	9578107		2203	4300	6503	SO:0001583	missense	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9578107G>C	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.1516C>G	19.37:g.9578107G>C	ENSP00000301480:p.His506Asp					ZNF560_uc010dwr.1_Missense_Mutation_p.H400D	p.H506D	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN			10	1726	-			506			C2H2-type 6.		Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	c.1516C>G	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.589678	0.46214	.	.	ENSG00000198028	ENST00000301480	D	0.86769	-2.17	2.05	0.959	0.19624	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95111	0.8416	H	0.97806	4.08	0.09310	N	0.999998	D	0.76494	0.999	D	0.87578	0.998	D	0.85889	0.1427	9	0.87932	D	0	.	7.7493	0.28888	0.0:0.0:0.7487:0.2513	.	506	Q96MR9	ZN560_HUMAN	D	506	ENSP00000301480:H506D	ENSP00000301480:H506D	H	-	1	0	ZNF560	9439107	1.000000	0.71417	0.001000	0.08648	0.259000	0.26198	4.654000	0.61469	0.396000	0.25283	0.491000	0.48974	CAT		0.413	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		13	93	0	0	0	0	13	93				
ZNF433	163059	broad.mit.edu	37	19	12126809	12126809	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:12126809G>C	ENST00000344980.6	-	4	1043	c.873C>G	c.(871-873)ttC>ttG	p.F291L	CTD-2006C1.2_ENST00000476474.1_RNA|ZNF433_ENST00000419886.2_Missense_Mutation_p.F256L|CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000495324.1_RNA	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	291					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						GGGAAGAGCTGAAGGCTTTCC	0.433																																						uc002msy.1		NA																	0					0						c.(871-873)TTC>TTG		zinc finger protein 433							63.0	65.0	64.0					19																	12126809		2202	4300	6502	SO:0001583	missense	163059				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12126809G>C	AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"""Zinc fingers, C2H2-type"", ""-"""	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.873C>G	19.37:g.12126809G>C	ENSP00000339767:p.Phe291Leu					uc002msx.1_Intron|ZNF433_uc002msz.1_Missense_Mutation_p.F256L	p.F291L	NM_001080411	NP_001073880	Q8N7K0	ZN433_HUMAN			4	1044	-			291			C2H2-type 6.		Q86VX3	Missense_Mutation	SNP	ENST00000344980.6	37	c.873C>G	CCDS45983.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.692940	0.48202	.	.	ENSG00000197647	ENST00000419886;ENST00000344980	T;T	0.46063	0.88;0.88	1.11	0.0204	0.14124	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40956	0.1138	M	0.78916	2.43	0.28451	N	0.916346	B	0.15473	0.013	B	0.15052	0.012	T	0.44406	-0.9330	9	0.66056	D	0.02	.	6.329	0.21259	0.1896:0.0:0.8104:0.0	.	291	Q8N7K0	ZN433_HUMAN	L	256;291	ENSP00000393416:F256L;ENSP00000339767:F291L	ENSP00000339767:F291L	F	-	3	2	ZNF433	11987809	0.823000	0.29233	0.011000	0.14972	0.823000	0.46562	0.610000	0.24253	0.023000	0.15187	0.313000	0.20887	TTC		0.433	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403716.1	NM_152602		13	37	0	0	0	0	13	37				
OR7A10	390892	broad.mit.edu	37	19	14952228	14952228	+	Silent	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:14952228C>G	ENST00000248058.1	-	1	461	c.462G>C	c.(460-462)ctG>ctC	p.L154L		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					ACATGGAATTCAGAACACTCA	0.458																																						uc002mzx.1		NA																	0					0						c.(460-462)CTG>CTC		olfactory receptor, family 7, subfamily A,							75.0	72.0	73.0					19																	14952228		2203	4300	6503	SO:0001819	synonymous_variant	390892				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14952228C>G		CCDS32936.1	19p13.1	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8356	protein-coding gene	gene with protein product							Standard	NM_001005190		Approved		uc002mzx.1	O76100		ENST00000248058.1:c.462G>C	19.37:g.14952228C>G							p.L154L	NM_001005190	NP_001005190	O76100	OR7AA_HUMAN			1	462	-	Ovarian(108;0.203)		154			Helical; Name=4; (Potential).		Q6IFP0|Q96R97	Silent	SNP	ENST00000248058.1	37	c.462G>C	CCDS32936.1																																																																																				0.458	OR7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466520.1	NM_001005190		4	64	0	0	0	0	4	64				
NOTCH3	4854	broad.mit.edu	37	19	15291928	15291928	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:15291928G>T	ENST00000263388.2	-	18	2913	c.2838C>A	c.(2836-2838)ttC>ttA	p.F946L		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	946	EGF-like 24. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			acaggcagctgaacgagttca	0.687																																						uc002nan.2		NA																	0				lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21						c.(2836-2838)TTC>TTA		Notch homolog 3 precursor							21.0	24.0	23.0					19																	15291928		2203	4298	6501	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15291928G>T	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.2838C>A	19.37:g.15291928G>T	ENSP00000263388:p.Phe946Leu					NOTCH3_uc002nao.1_Missense_Mutation_p.F894L	p.F946L	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		18	2914	-			946			Extracellular (Potential).|EGF-like 24.		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.2838C>A	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139359	0.94560	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.93488	-3.23	5.36	4.32	0.51571	EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.33712	N	0.004627	D	0.96460	0.8845	M	0.90759	3.145	0.43118	D	0.994835	D;D	0.61080	0.989;0.989	D;D	0.66979	0.948;0.92	D	0.96357	0.9263	10	0.72032	D	0.01	.	9.3846	0.38336	0.1567:0.0:0.8433:0.0	.	897;946	Q59FL3;Q9UM47	.;NOTC3_HUMAN	L	946;896	ENSP00000263388:F946L	ENSP00000263388:F946L	F	-	3	2	NOTCH3	15152928	0.999000	0.42202	1.000000	0.80357	0.981000	0.71138	1.898000	0.39809	2.521000	0.84997	0.491000	0.48974	TTC		0.687	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		4	14	1	0	0.00024832	0.000257691	4	14				
CPAMD8	27151	broad.mit.edu	37	19	17111256	17111256	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:17111256C>G	ENST00000443236.1	-	10	1007	c.976G>C	c.(976-978)Gag>Cag	p.E326Q	CPAMD8_ENST00000388925.4_Missense_Mutation_p.E279Q	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	279						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CGTCCCACCTCGTGGCTGTAG	0.517																																						uc002nfb.2		NA																	0				ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						c.(976-978)GAG>CAG		C3 and PZP-like, alpha-2-macroglobulin domain							58.0	59.0	59.0					19																	17111256		1915	4121	6036	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17111256C>G	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.976G>C	19.37:g.17111256C>G	ENSP00000402505:p.Glu326Gln						p.E326Q	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			10	1008	-			279					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.976G>C	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	-	13.57	2.277804	0.40294	.	.	ENSG00000160111	ENST00000291440;ENST00000388925	T;T	0.53423	0.62;0.63	2.55	2.55	0.30701	.	0.386901	0.22261	U	0.062410	T	0.61912	0.2385	M	0.66939	2.045	0.45528	D	0.998488	D	0.89917	1.0	D	0.72625	0.978	T	0.59616	-0.7421	10	0.20519	T	0.43	.	13.3861	0.60797	0.0:1.0:0.0:0.0	.	279	Q8IZJ3	CPMD8_HUMAN	Q	326;279	ENSP00000291440:E326Q;ENSP00000373577:E279Q	ENSP00000291440:E326Q	E	-	1	0	CPAMD8	16972256	1.000000	0.71417	0.999000	0.59377	0.166000	0.22503	6.308000	0.72820	1.178000	0.42870	0.455000	0.32223	GAG		0.517	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		6	19	0	0	0	0	6	19				
ZNF100	163227	broad.mit.edu	37	19	21948580	21948580	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:21948580C>T	ENST00000358296.6	-	2	210	c.12G>A	c.(10-12)ccG>ccA	p.P4P	ZNF100_ENST00000596452.1_5'Flank	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	4					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						TTCCATACCTCGGGTCATCCT	0.483																																						uc002nqi.2		NA																	0					0						c.(10-12)CCG>CCA		zinc finger protein 100							70.0	75.0	73.0					19																	21948580		2186	4296	6482	SO:0001819	synonymous_variant	163227				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21948580C>T	BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"""Zinc fingers, C2H2-type"", ""-"""	12880	protein-coding gene	gene with protein product		603982	"""zinc finger protein 100 (Y1)"""			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.12G>A	19.37:g.21948580C>T							p.P4P	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN			2	211	-			4					Q7M4M0	Silent	SNP	ENST00000358296.6	37	c.12G>A	CCDS42538.1																																																																																				0.483	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	NM_173531		18	46	0	0	0	0	18	46				
ZNF208	7757	broad.mit.edu	37	19	22156005	22156005	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:22156005A>T	ENST00000397126.4	-	4	1979	c.1831T>A	c.(1831-1833)Tgt>Agt	p.C611S	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	611					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CATTCTTCACATTTGTAGGGT	0.373																																						uc002nqp.2		NA																	0				ovary(5)|skin(2)	7						c.(1531-1533)TGT>AGT		zinc finger protein 208							59.0	62.0	61.0					19																	22156005		2096	4242	6338	SO:0001583	missense	7757							g.chr19:22156005A>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1831T>A	19.37:g.22156005A>T	ENSP00000380315:p.Cys611Ser					ZNF208_uc002nqo.1_Intron	p.C511S	NM_007153	NP_009084					5	1680	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.1531T>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	A	14.15	2.449986	0.43531	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	D	0.85171	-1.95	2.8	2.8	0.32819	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.90817	0.7116	.	.	.	0.18873	N	0.999982	D	0.89917	1.0	D	0.87578	0.998	T	0.81013	-0.1125	8	0.87932	D	0	.	9.7944	0.40726	1.0:0.0:0.0:0.0	.	511	O43345	ZN208_HUMAN	S	611;511	ENSP00000380315:C611S	ENSP00000380315:C611S	C	-	1	0	ZNF208	21947845	0.986000	0.35501	0.001000	0.08648	0.024000	0.10985	6.541000	0.73865	0.921000	0.36994	0.254000	0.18369	TGT		0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		27	23	0	0	0	0	27	23				
NUDT19	390916	broad.mit.edu	37	19	33200187	33200187	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:33200187G>A	ENST00000397061.3	+	2	811	c.811G>A	c.(811-813)Gcc>Acc	p.A271T		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	271						mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					TGCAAACTTTGCCTCTCTCTC	0.453																																						uc010edf.2		NA																	0					0						c.(811-813)GCC>ACC		nudix (nucleoside diphosphate linked moiety							201.0	186.0	191.0					19																	33200187		1873	4100	5973	SO:0001583	missense	390916					mitochondrion|peroxisome	hydrolase activity|metal ion binding	g.chr19:33200187G>A		CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"""Nudix motif containing"""	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.811G>A	19.37:g.33200187G>A	ENSP00000380251:p.Ala271Thr						p.A271T	NM_001105570	NP_001099040	A8MXV4	NUD19_HUMAN			2	811	+	Esophageal squamous(110;0.137)		271						Missense_Mutation	SNP	ENST00000397061.3	37	c.811G>A	CCDS42543.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.528760	0.44969	.	.	ENSG00000213965	ENST00000397061	T	0.44482	0.92	4.88	1.16	0.20824	.	0.241534	0.34700	U	0.003760	T	0.27349	0.0671	L	0.45581	1.43	0.34926	D	0.74889	B	0.25772	0.134	B	0.20577	0.03	T	0.15983	-1.0418	10	0.16896	T	0.51	-24.4092	5.1943	0.15227	0.0985:0.0:0.5401:0.3614	.	271	A8MXV4	NUD19_HUMAN	T	271	ENSP00000380251:A271T	ENSP00000380251:A271T	A	+	1	0	NUDT19	37892027	0.907000	0.30839	0.998000	0.56505	0.829000	0.46940	0.196000	0.17176	0.530000	0.28619	0.591000	0.81541	GCC		0.453	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450338.3	XM_372723		52	175	0	0	0	0	52	175				
RHPN2	85415	broad.mit.edu	37	19	33493179	33493179	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:33493179G>C	ENST00000254260.3	-	9	1114	c.1079C>G	c.(1078-1080)aCt>aGt	p.T360S	RHPN2_ENST00000400226.4_Missense_Mutation_p.T209S	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	360	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GAGGATGGCAGTGAAGTAGTG	0.647																																						uc002nuf.2		NA																	0				central_nervous_system(5)|ovary(1)	6						c.(1078-1080)ACT>AGT		rhophilin, Rho GTPase binding protein 2							43.0	39.0	41.0					19																	33493179		2203	4300	6503	SO:0001583	missense	85415				signal transduction	perinuclear region of cytoplasm	protein binding	g.chr19:33493179G>C	AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.1079C>G	19.37:g.33493179G>C	ENSP00000254260:p.Thr360Ser					RHPN2_uc010xro.1_Missense_Mutation_p.T209S|RHPN2_uc002nue.2_Missense_Mutation_p.T90S	p.T360S	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN			9	1145	-	Esophageal squamous(110;0.137)		360			BRO1.		B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	c.1079C>G	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	G	9.686	1.150657	0.21371	.	.	ENSG00000131941	ENST00000254260;ENST00000544458;ENST00000400226	T;T	0.16597	2.33;2.33	4.61	2.46	0.29980	BRO1 domain (3);	0.611079	0.17197	N	0.183300	T	0.15392	0.0371	L	0.50333	1.59	0.09310	N	1	B	0.17667	0.023	B	0.17979	0.02	T	0.18272	-1.0342	10	0.40728	T	0.16	0.1418	8.1101	0.30909	0.3335:0.0:0.6665:0.0	.	360	Q8IUC4	RHPN2_HUMAN	S	360;90;209	ENSP00000254260:T360S;ENSP00000402244:T209S	ENSP00000254260:T360S	T	-	2	0	RHPN2	38185019	0.001000	0.12720	0.002000	0.10522	0.638000	0.38207	1.309000	0.33539	0.479000	0.27511	0.455000	0.32223	ACT		0.647	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103		20	37	0	0	0	0	20	37				
MAP4K1	11184	broad.mit.edu	37	19	39103307	39103307	+	Silent	SNP	G	G	A	rs56029962		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:39103307G>A	ENST00000591517.1	-	9	637	c.609C>T	c.(607-609)atC>atT	p.I203I	MAP4K1_ENST00000396857.2_Silent_p.I203I|MAP4K1_ENST00000586296.1_Silent_p.I203I|MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000589130.1_Silent_p.I199I	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	203	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGATGGCCGTGATGCCCAGGG	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		13097	0.0		0.001	False		,,,				2504	0.0					uc002oix.1		NA																	0				skin(4)|lung(3)|ovary(1)	8						c.(607-609)ATC>ATT		mitogen-activated protein kinase kinase kinase		G	,	0,4298		0,0,2149	58.0	63.0	62.0		609,609	4.2	1.0	19	dbSNP_129	62	5,8547		0,5,4271	no	coding-synonymous,coding-synonymous	MAP4K1	NM_001042600.1,NM_007181.4	,	0,5,6420	AA,AG,GG		0.0585,0.0,0.0389	,	203/822,203/834	39103307	5,12845	2149	4276	6425	SO:0001819	synonymous_variant	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39103307G>A	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.609C>T	19.37:g.39103307G>A						MAP4K1_uc002oiy.1_Silent_p.I203I|MAP4K1_uc010xug.1_5'UTR	p.I203I	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		9	717	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		203			Protein kinase.			Silent	SNP	ENST00000591517.1	37	c.609C>T	CCDS59385.1																																																																																				0.627	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		26	70	0	0	0	0	26	70				
PSG7	5676	broad.mit.edu	37	19	43433864	43433864	+	RNA	SNP	G	G	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:43433864G>T	ENST00000406070.2	-	0	535				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				GAGGGTTTGGGAGTCTCCACT	0.512																																						uc002ovl.3		NA																	0					0						c.(439-441)CCC>ACC		pregnancy specific beta-1-glycoprotein 7							147.0	148.0	148.0					19																	43433864		2201	4300	6501			5676				female pregnancy	extracellular region		g.chr19:43433864G>T			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43433864G>T						PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_5'Flank|PSG7_uc002out.1_5'UTR|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Missense_Mutation_p.P25T	p.P147T	NM_002783	NP_002774	Q13046	PSG7_HUMAN			4	541	-		Prostate(69;0.00682)	147			Ig-like C2-type 1.		Q15232	Missense_Mutation	SNP	ENST00000406070.2	37	c.439C>A																																																																																					0.512	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		61	13	1	0	1.44e-24	1.56e-24	61	13				
IRGC	56269	broad.mit.edu	37	19	44223308	44223308	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:44223308G>A	ENST00000244314.5	+	2	797	c.598G>A	c.(598-600)Gag>Aag	p.E200K		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	200	IRG-type G.					membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CCACTGTGCCGAGCGGCTGCG	0.701																																					Colon(189;350 2037 11447 13433 38914)	uc002oxh.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(598-600)GAG>AAG		immunity-related GTPase family, cinema							27.0	31.0	30.0					19																	44223308		2150	4180	6330	SO:0001583	missense	56269					membrane	GTP binding|hydrolase activity, acting on acid anhydrides	g.chr19:44223308G>A	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"""immunity-related GTPase family, cinema 1"""	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.598G>A	19.37:g.44223308G>A	ENSP00000244314:p.Glu200Lys						p.E200K	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN			2	745	+		Prostate(69;0.0435)	200					Q05BR8	Missense_Mutation	SNP	ENST00000244314.5	37	c.598G>A	CCDS12629.1	.	.	.	.	.	.	.	.	.	.	G	2.356	-0.347751	0.05208	.	.	ENSG00000124449	ENST00000244314	T	0.11277	2.79	5.67	2.35	0.29111	.	0.804082	0.11284	N	0.580028	T	0.03564	0.0102	N	0.05383	-0.06	0.09310	N	1	P	0.43857	0.819	B	0.30572	0.117	T	0.35051	-0.9804	10	0.22109	T	0.4	.	4.5147	0.11928	0.242:0.0:0.6022:0.1558	.	200	Q6NXR0	IIGP5_HUMAN	K	200	ENSP00000244314:E200K	ENSP00000244314:E200K	E	+	1	0	IRGC	48915148	0.913000	0.31002	0.001000	0.08648	0.081000	0.17604	1.287000	0.33284	0.325000	0.23359	-0.182000	0.12963	GAG		0.701	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612		14	54	0	0	0	0	14	54				
ZNF112	7771	broad.mit.edu	37	19	44831903	44831903	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:44831903G>A	ENST00000337401.4	-	5	2513	c.2425C>T	c.(2425-2427)Cag>Tag	p.Q809*	ZNF112_ENST00000354340.4_Nonsense_Mutation_p.Q803*|ZNF112_ENST00000536500.1_Nonsense_Mutation_p.Q826*	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	809					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TTACCACACTGTTCACATTTA	0.458																																						uc010ejj.2		NA																	0				ovary(3)|skin(2)	5						c.(2425-2427)CAG>TAG		zinc finger protein 228 isoform 1							157.0	154.0	155.0					19																	44831903		2203	4300	6503	SO:0001587	stop_gained	7771				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44831903G>A	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.2425C>T	19.37:g.44831903G>A	ENSP00000337081:p.Gln809*					ZFP112_uc002ozc.3_Nonsense_Mutation_p.Q803*|ZFP112_uc010xwy.1_Nonsense_Mutation_p.Q826*|ZFP112_uc010xwz.1_Nonsense_Mutation_p.Q808*	p.Q809*	NM_001083335	NP_001076804	Q9UJU3	ZF112_HUMAN			5	2538	-			809			C2H2-type 15.		A4FU53|Q9HCA7	Nonsense_Mutation	SNP	ENST00000337401.4	37	c.2425C>T	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	G	36	5.847395	0.97023	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	.	.	.	5.07	3.95	0.45737	.	0.000000	0.32244	N	0.006367	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-3.1463	11.7336	0.51752	0.0:0.0:0.7079:0.2921	.	.	.	.	X	809;809;803;826;808	.	ENSP00000253426:Q808X	Q	-	1	0	ZNF285	49523743	0.000000	0.05858	0.999000	0.59377	0.989000	0.77384	-0.091000	0.11146	2.521000	0.84997	0.563000	0.77884	CAG		0.458	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		37	100	0	0	0	0	37	100				
CKM	1158	broad.mit.edu	37	19	45818846	45818846	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:45818846C>A	ENST00000221476.3	-	4	532	c.358G>T	c.(358-360)Gac>Tac	p.D120Y		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	120					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|phosphocreatine biosynthetic process (GO:0046314)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GGGTCCAGGTCGTCTCCACCC	0.677																																						uc002pbd.2		NA																	0				skin(1)	1						c.(358-360)GAC>TAC		muscle creatine kinase	Creatine(DB00148)						39.0	38.0	38.0					19																	45818846		2203	4300	6503	SO:0001583	missense	1158				creatine metabolic process	cytosol	ATP binding|creatine kinase activity	g.chr19:45818846C>A	M14780	CCDS12659.1	19q13.32	2012-10-02			ENSG00000104879	ENSG00000104879	2.7.3.2		1994	protein-coding gene	gene with protein product		123310		CKMM			Standard	NM_001824		Approved		uc002pbd.4	P06732		ENST00000221476.3:c.358G>T	19.37:g.45818846C>A	ENSP00000221476:p.Asp120Tyr						p.D120Y	NM_001824	NP_001815	P06732	KCRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	4	432	-		Ovarian(192;0.0336)|all_neural(266;0.112)	120					Q96QL9	Missense_Mutation	SNP	ENST00000221476.3	37	c.358G>T	CCDS12659.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221243	0.58560	.	.	ENSG00000104879	ENST00000221476	T	0.26810	1.71	3.54	3.54	0.40534	Glutamine synthetase/guanido kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.51312	0.1667	M	0.90252	3.1	0.80722	D	1	P	0.45902	0.868	P	0.55965	0.788	T	0.63056	-0.6722	10	0.87932	D	0	-13.727	12.8031	0.57596	0.0:1.0:0.0:0.0	.	120	P06732	KCRM_HUMAN	Y	120	ENSP00000221476:D120Y	ENSP00000221476:D120Y	D	-	1	0	CKM	50510686	1.000000	0.71417	0.999000	0.59377	0.336000	0.28762	7.207000	0.77899	1.869000	0.54173	0.297000	0.19635	GAC		0.677	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457569.1			10	25	1	0	2.18e-05	2.28e-05	10	25				
DBP	1628	broad.mit.edu	37	19	49140149	49140149	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:49140149G>A	ENST00000222122.5	-	1	546	c.103C>T	c.(103-105)Ctg>Ttg	p.L35L	DBP_ENST00000593500.1_5'Flank|SEC1P_ENST00000430145.2_RNA|DBP_ENST00000599385.1_5'Flank|DBP_ENST00000601104.1_Silent_p.L35L	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	35					liver development (GO:0001889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|rhythmic process (GO:0048511)	nucleus (GO:0005634)	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 regulatory region sequence-specific DNA binding (GO:0000977)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		GTCCCCTGCAGAAGGCTCCGC	0.701																																						uc002pjx.3		NA																	0					0						c.(103-105)CTG>TTG		D site of albumin promoter (albumin D-box)							26.0	31.0	29.0					19																	49140149		2203	4300	6503	SO:0001819	synonymous_variant	1628				regulation of transcription from RNA polymerase II promoter|rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:49140149G>A	U06936	CCDS12728.1	19q13.33	2013-09-20			ENSG00000105516	ENSG00000105516			2697	protein-coding gene	gene with protein product		124097				1535333, 7835883	Standard	XR_243907		Approved	DABP	uc002pjx.4	Q10586	OTTHUMG00000183319	ENST00000222122.5:c.103C>T	19.37:g.49140149G>A						SEC1_uc010xzv.1_5'Flank|SEC1_uc002pka.2_5'Flank|SEC1_uc010xzw.1_5'Flank|SEC1_uc010ema.2_5'Flank|DBP_uc002pjy.2_Silent_p.L35L|DBP_uc010elz.1_Silent_p.L35L	p.L35L	NM_001352	NP_001343	Q10586	DBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)	1	491	-		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	35					A2I2P4	Silent	SNP	ENST00000222122.5	37	c.103C>T	CCDS12728.1																																																																																				0.701	DBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466167.1	NM_001352		3	10	0	0	0	0	3	10				
GYS1	2997	broad.mit.edu	37	19	49484831	49484831	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:49484831G>T	ENST00000323798.3	-	8	1321	c.1125C>A	c.(1123-1125)ttC>ttA	p.F375L	GYS1_ENST00000263276.6_Missense_Mutation_p.F311L|GYS1_ENST00000544287.1_Missense_Mutation_p.F8L|GYS1_ENST00000541188.1_Missense_Mutation_p.F295L|GYS1_ENST00000540532.1_3'UTR	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	375					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TTTCCACGTTGAAATTGTTGG	0.587																																						uc002plp.2		NA																	0				ovary(2)	2						c.(1123-1125)TTC>TTA		glycogen synthase 1 (muscle) isoform 1							146.0	122.0	130.0					19																	49484831		2203	4300	6503	SO:0001583	missense	2997				glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding	g.chr19:49484831G>T		CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.1125C>A	19.37:g.49484831G>T	ENSP00000317904:p.Phe375Leu					GYS1_uc010xzy.1_Missense_Mutation_p.F8L|GYS1_uc010emm.2_Missense_Mutation_p.F311L|GYS1_uc010xzz.1_Missense_Mutation_p.F295L|GYS1_uc010yaa.1_RNA	p.F375L	NM_002103	NP_002094	P13807	GYS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)	8	1366	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	375					Q9BTT9	Missense_Mutation	SNP	ENST00000323798.3	37	c.1125C>A	CCDS12747.1	.	.	.	.	.	.	.	.	.	.	g	21.5	4.159129	0.78226	.	.	ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000541188;ENST00000544287	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	4.8	2.63	0.31362	.	0.000000	0.85682	D	0.000000	T	0.73434	0.3586	M	0.74467	2.265	0.80722	D	1	D;D;D	0.89917	1.0;0.979;0.996	D;P;D	0.87578	0.998;0.864;0.963	T	0.70436	-0.4872	10	0.22706	T	0.39	-27.2285	9.6275	0.39759	0.1871:0.0:0.8129:0.0	.	295;311;375	B7Z806;Q9BTT9;P13807	.;.;GYS1_HUMAN	L	375;311;295;8	ENSP00000317904:F375L;ENSP00000263276:F311L;ENSP00000437922:F295L;ENSP00000444004:F8L	ENSP00000263276:F311L	F	-	3	2	GYS1	54176643	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.723000	0.61965	1.152000	0.42452	0.506000	0.49869	TTC		0.587	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		4	33	1	0	0.00198382	0.00203521	4	33				
SLC17A7	57030	broad.mit.edu	37	19	49935905	49935905	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:49935905C>T	ENST00000221485.3	-	9	1192	c.1021G>A	c.(1021-1023)Ggc>Agc	p.G341S	SLC17A7_ENST00000600601.1_Missense_Mutation_p.G274S|SLC17A7_ENST00000543531.1_Missense_Mutation_p.G329S	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	341					glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GACACCAGGCCTACCTGCGGG	0.692																																						uc002pnp.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1021-1023)GGC>AGC		solute carrier family 17, member 7							31.0	30.0	31.0					19																	49935905		2202	4298	6500	SO:0001583	missense	57030				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity	g.chr19:49935905C>T	AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"""Solute carriers"""	16704	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 1"""	605208	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"""			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.1021G>A	19.37:g.49935905C>T	ENSP00000221485:p.Gly341Ser					SLC17A7_uc002pno.2_Missense_Mutation_p.G40S	p.G341S	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)	9	1193	-		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	341			Extracellular (Potential).		B4DFR9|B4DG46|Q6PCD0	Missense_Mutation	SNP	ENST00000221485.3	37	c.1021G>A	CCDS12764.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.229333	0.79688	.	.	ENSG00000104888	ENST00000221485;ENST00000543531	T;T	0.61392	0.11;0.11	3.87	3.87	0.44632	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.53938	D	0.000046	T	0.74921	0.3780	M	0.78801	2.425	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.79200	-0.1901	10	0.87932	D	0	.	13.7066	0.62644	0.0:1.0:0.0:0.0	.	341;183	Q9P2U7;A8K0Q7	VGLU1_HUMAN;.	S	341;329	ENSP00000221485:G341S;ENSP00000441767:G329S	ENSP00000221485:G341S	G	-	1	0	SLC17A7	54627717	1.000000	0.71417	1.000000	0.80357	0.264000	0.26372	7.496000	0.81526	2.187000	0.69744	0.491000	0.48974	GGC		0.692	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2			18	13	0	0	0	0	18	13				
TSKS	60385	broad.mit.edu	37	19	50243129	50243129	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:50243129G>A	ENST00000246801.3	-	11	1765	c.1683C>T	c.(1681-1683)ctC>ctT	p.L561L	TSKS_ENST00000358830.3_Silent_p.L361L	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	561					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GCAGGTTGCTGAGATGATCGT	0.587																																						uc002ppm.2		NA																	0				large_intestine(1)|skin(1)	2						c.(1681-1683)CTC>CTT		testis-specific kinase substrate							102.0	97.0	99.0					19																	50243129		2203	4300	6503	SO:0001819	synonymous_variant	60385						protein binding	g.chr19:50243129G>A	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1683C>T	19.37:g.50243129G>A							p.L561L	NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	11	1694	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	561					Q8WXJ0	Silent	SNP	ENST00000246801.3	37	c.1683C>T	CCDS12780.1																																																																																				0.587	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		31	75	0	0	0	0	31	75				
SIGLEC6	946	broad.mit.edu	37	19	52034048	52034048	+	Missense_Mutation	SNP	G	G	A	rs371565589		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:52034048G>A	ENST00000425629.3	-	3	747	c.593C>T	c.(592-594)tCg>tTg	p.S198L	SIGLEC6_ENST00000343300.4_Missense_Mutation_p.S198L|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.S162L|SIGLEC6_ENST00000474054.1_5'Flank|SIGLEC6_ENST00000346477.3_Missense_Mutation_p.S198L|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.S187L|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.S198L	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	198	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TGTGAGCACCGAGGACTGGGT	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		17831	0.0		0.0	False		,,,				2504	0.001					uc002pwy.2		NA																	0				ovary(1)	1						c.(592-594)TCG>TTG		sialic acid binding Ig-like lectin 6 isoform 1		G	LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	62.0	67.0	66.0		485,593,560,593,593,593	-2.4	0.0	19		66	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense	SIGLEC6	NM_001177547.1,NM_001177548.1,NM_001177549.1,NM_001245.5,NM_198845.4,NM_198846.4	145,145,145,145,145,145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	162/402,198/390,187/343,198/454,198/438,198/354	52034048	1,13005	2203	4300	6503	SO:0001583	missense	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52034048G>A	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.593C>T	19.37:g.52034048G>A	ENSP00000401502:p.Ser198Leu					SIGLEC6_uc002pwz.2_Missense_Mutation_p.S198L|SIGLEC6_uc002pxa.2_Missense_Mutation_p.S198L|SIGLEC6_uc010ydb.1_Missense_Mutation_p.S151L|SIGLEC6_uc010ydc.1_Missense_Mutation_p.S187L|SIGLEC6_uc010eoz.1_Missense_Mutation_p.S176L|SIGLEC6_uc010epb.1_Missense_Mutation_p.S151L|SIGLEC6_uc010epa.1_Missense_Mutation_p.S187L	p.S198L	NM_001245	NP_001236	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	3	755	-		all_neural(266;0.0199)	198			Ig-like C2-type 1.|Extracellular (Potential).		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	ENST00000425629.3	37	c.593C>T	CCDS12834.3	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680353	0.47886	2.27E-4	0.0	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000359982;ENST00000436458;ENST00000343300	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	3.47	-2.44	0.06502	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.33180	N	0.005192	T	0.45935	0.1367	H	0.94542	3.55	0.09310	N	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;P;D	0.80764	0.99;0.994;0.977;0.984;0.867;0.994	T	0.31308	-0.9948	10	0.59425	D	0.04	.	3.8813	0.09079	0.3528:0.2449:0.4023:0.0	.	198;162;187;198;198;198	F8WA78;C9JBE5;O43699-4;O43699-2;O43699-3;O43699	.;.;.;.;.;SIGL6_HUMAN	L	187;198;198;198;162;198	ENSP00000401502:S198L;ENSP00000353071:S198L;ENSP00000410679:S162L;ENSP00000345907:S198L	ENSP00000345907:S198L	S	-	2	0	SIGLEC6	56725860	0.420000	0.25457	0.000000	0.03702	0.000000	0.00434	0.671000	0.25172	-0.404000	0.07610	-0.379000	0.06801	TCG		0.652	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		19	66	0	0	0	0	19	66				
HAS1	3036	broad.mit.edu	37	19	52217097	52217097	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:52217097G>A	ENST00000222115.1	-	5	1354	c.1320C>T	c.(1318-1320)ggC>ggT	p.G440G	HAS1_ENST00000601714.1_Silent_p.G447G|HAS1_ENST00000540069.2_Silent_p.G439G	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	440					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CCAGTGCCACGCCCTGCACGC	0.697																																					NSCLC(132;636 2450 45807 47979)	uc002pxo.1		NA																	0				ovary(1)|pancreas(1)	2						c.(1318-1320)GGC>GGT		hyaluronan synthase 1							21.0	21.0	21.0					19																	52217097		2188	4289	6477	SO:0001819	synonymous_variant	3036				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding	g.chr19:52217097G>A	U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.1320C>T	19.37:g.52217097G>A						HAS1_uc010epc.1_Silent_p.G40G|HAS1_uc010epd.1_3'UTR|HAS1_uc002pxn.1_Silent_p.G447G|HAS1_uc002pxp.1_Silent_p.G439G	p.G440G	NM_001523	NP_001514	Q92839	HAS1_HUMAN		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	5	1355	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	440			Helical; Name=4; (Potential).		Q14470|Q9NS49	Silent	SNP	ENST00000222115.1	37	c.1320C>T	CCDS12838.1																																																																																				0.697	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523		7	13	0	0	0	0	7	13				
PRKCG	5582	broad.mit.edu	37	19	54409999	54409999	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:54409999G>A	ENST00000263431.3	+	18	2226	c.1944G>A	c.(1942-1944)acG>acA	p.T648T	PRKCG_ENST00000540413.1_Silent_p.T648T|CACNG7_ENST00000391767.1_5'Flank|PRKCG_ENST00000542049.1_Silent_p.T499T	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	648	AGC-kinase C-terminal.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	AGTTCTTCACGCGGGCGGCGC	0.647											OREG0025667	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002qcq.1		NA																	0				lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9						c.(1942-1944)ACG>ACA		protein kinase C, gamma							51.0	57.0	55.0					19																	54409999		2203	4300	6503	SO:0001819	synonymous_variant	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54409999G>A	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.1944G>A	19.37:g.54409999G>A			OREG0025667	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1000	PRKCG_uc010yeg.1_Silent_p.T648T|PRKCG_uc010yeh.1_Silent_p.T499T	p.T648T	NM_002739	NP_002730	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	18	2226	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		648			AGC-kinase C-terminal.		B7Z8Q0	Silent	SNP	ENST00000263431.3	37	c.1944G>A	CCDS12867.1																																																																																				0.647	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		33	90	0	0	0	0	33	90				
NDUFA3	4696	broad.mit.edu	37	19	54606193	54606193	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:54606193G>A	ENST00000485876.1	+	1	49	c.7G>A	c.(7-9)Gcg>Acg	p.A3T	OSCAR_ENST00000356532.3_5'Flank|NDUFA3_ENST00000391764.3_Missense_Mutation_p.A3T|NDUFA3_ENST00000471292.1_Missense_Mutation_p.A3T|OSCAR_ENST00000391761.1_5'Flank|NDUFA3_ENST00000303553.5_5'UTR|OSCAR_ENST00000284648.6_5'Flank|NDUFA3_ENST00000391762.1_Missense_Mutation_p.A3T|OSCAR_ENST00000359649.4_5'Flank|OSCAR_ENST00000358375.4_5'Flank|NDUFA3_ENST00000391763.3_Missense_Mutation_p.A3T|OSCAR_ENST00000351806.4_5'Flank|OSCAR_ENST00000391760.1_5'Flank			O95167	NDUA3_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa	3					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(1)	2	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					AAAGATGGCTGCGAGTAAGTG	0.692											OREG0003632|OREG0003682	type=REGULATORY REGION|Gene=BC035023|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=NDUFA3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc002qde.2		NA																	0				breast(1)	1						c.(7-9)GCG>ACG		NADH dehydrogenase (ubiquinone) 1 alpha	NADH(DB00157)						27.0	31.0	30.0					19																	54606193		2201	4300	6501	SO:0001583	missense	4696				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr19:54606193G>A	AF044955	CCDS12877.1	19q13.42	2011-07-04	2002-08-29		ENSG00000170906	ENSG00000170906		"""Mitochondrial respiratory chain complex / Complex I"""	7686	protein-coding gene	gene with protein product	"""complex I B9 subunit"""	603832	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3 (9kD, B9)"""			9878551	Standard	NM_004542		Approved	B9	uc002qde.3	O95167	OTTHUMG00000064972	ENST00000485876.1:c.7G>A	19.37:g.54606193G>A	ENSP00000418438:p.Ala3Thr		OREG0003682|OREG0003632	type=REGULATORY REGION|Gene=NDUFA3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=BC035023|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1001	OSCAR_uc002qcy.2_5'Flank|OSCAR_uc002qcz.2_5'Flank|OSCAR_uc002qda.2_5'Flank|OSCAR_uc002qdb.2_5'Flank|OSCAR_uc010erc.2_5'Flank|OSCAR_uc002qdc.2_5'Flank|OSCAR_uc002qdd.2_5'Flank|NDUFA3_uc002qdf.2_RNA	p.A3T	NM_004542	NP_004533	O95167	NDUA3_HUMAN			1	34	+	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)		3						Missense_Mutation	SNP	ENST00000485876.1	37	c.7G>A	CCDS12877.1	.	.	.	.	.	.	.	.	.	.	g	13.72	2.320238	0.41096	.	.	ENSG00000170906	ENST00000485876;ENST00000391762;ENST00000417328;ENST00000391763;ENST00000391764	.	.	.	4.08	-1.15	0.09709	.	.	.	.	.	T	0.25457	0.0619	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.19877	-1.0292	7	0.44086	T	0.13	.	3.7893	0.08713	0.1835:0.0:0.4807:0.3358	.	3	O95167	NDUA3_HUMAN	T	3	.	ENSP00000375642:A3T	A	+	1	0	NDUFA3	59298005	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.532000	0.06164	-0.160000	0.11002	0.289000	0.19496	GCG		0.692	NDUFA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139509.5	NM_004542		9	11	0	0	0	0	9	11				
ZNF471	57573	broad.mit.edu	37	19	57035959	57035959	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:57035959G>A	ENST00000308031.5	+	5	656	c.523G>A	c.(523-525)Gag>Aag	p.E175K	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	175					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		AAACATAGAAGAGAGTATTTA	0.284																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	uc002qnh.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(523-525)GAG>AAG		zinc finger protein 471							33.0	35.0	34.0					19																	57035959		2202	4296	6498	SO:0001583	missense	57573				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57035959G>A	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.523G>A	19.37:g.57035959G>A	ENSP00000309161:p.Glu175Lys						p.E175K	NM_020813	NP_065864	Q9BX82	ZN471_HUMAN		GBM - Glioblastoma multiforme(193;0.0307)	5	656	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	175					B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	c.523G>A	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	G	6.047	0.376959	0.11466	.	.	ENSG00000196263	ENST00000308031	T	0.05081	3.5	3.87	2.84	0.33178	.	.	.	.	.	T	0.06280	0.0162	L	0.49256	1.55	0.80722	D	1	B	0.25719	0.132	B	0.16722	0.016	T	0.20306	-1.0279	9	0.42905	T	0.14	.	6.4347	0.21817	0.1035:0.0:0.7115:0.185	.	175	Q9BX82	ZN471_HUMAN	K	175	ENSP00000309161:E175K	ENSP00000309161:E175K	E	+	1	0	ZNF471	61727771	0.005000	0.15991	0.622000	0.29159	0.060000	0.15804	0.440000	0.21592	2.172000	0.68678	0.563000	0.77884	GAG		0.284	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813		3	28	0	0	0	0	3	28				
ZNF470	388566	broad.mit.edu	37	19	57088415	57088415	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:57088415G>C	ENST00000330619.8	+	6	1304	c.618G>C	c.(616-618)aaG>aaC	p.K206N	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.K206N	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	206					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		ATACAGATAAGAAAAGCTTAA	0.289																																						uc002qnl.3		NA																	0				ovary(1)|pancreas(1)	2						c.(616-618)AAG>AAC		zinc finger protein 470							29.0	31.0	30.0					19																	57088415		2194	4285	6479	SO:0001583	missense	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57088415G>C	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.618G>C	19.37:g.57088415G>C	ENSP00000333223:p.Lys206Asn					ZNF470_uc010etn.2_Intron	p.K206N	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	6	1294	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	206					A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	c.618G>C	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	G	4.340	0.062456	0.08388	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.06687	3.27;3.27	3.97	-1.23	0.09465	.	.	.	.	.	T	0.04363	0.0120	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40175	-0.9577	9	0.66056	D	0.02	.	3.747	0.08552	0.2209:0.0:0.4502:0.3289	.	206	Q6ECI4	ZN470_HUMAN	N	206	ENSP00000375590:K206N;ENSP00000333223:K206N	ENSP00000333223:K206N	K	+	3	2	ZNF470	61780227	0.368000	0.25031	0.085000	0.20634	0.644000	0.38419	0.383000	0.20651	0.006000	0.14734	-0.302000	0.09304	AAG		0.289	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		23	19	0	0	0	0	23	19				
ZNF835	90485	broad.mit.edu	37	19	57175000	57175000	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr19:57175000G>T	ENST00000537055.2	-	2	1798	c.1567C>A	c.(1567-1569)Caa>Aaa	p.Q523K		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	523					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CACCCCTGTTGACAGGTTTCT	0.582																																						uc010ygo.1		NA																	0				pancreas(3)|skin(1)	4						c.(1633-1635)CAA>AAA		zinc finger protein 835							62.0	67.0	65.0					19																	57175000		2119	4249	6368	SO:0001583	missense	90485							g.chr19:57175000G>T	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.1567C>A	19.37:g.57175000G>T	ENSP00000444747:p.Gln523Lys					ZNF835_uc010ygn.1_Missense_Mutation_p.Q523K	p.Q545K	NM_001005850	NP_001005850					2	1633	-								B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.1633C>A	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.553913	0.00918	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.05925	3.37	1.65	-3.29	0.05017	.	.	.	.	.	T	0.02533	0.0077	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31052	-0.9957	9	0.15952	T	0.53	.	3.8933	0.09128	0.145:0.304:0.4479:0.1031	.	545	Q9Y2P0	ZN835_HUMAN	K	545;523	ENSP00000444747:Q523K	ENSP00000341756:Q545K	Q	-	1	0	ZNF835	61866812	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.481000	0.00456	-5.354000	0.00016	-3.579000	0.00029	CAA		0.582	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		18	63	1	0	9.17e-09	9.76e-09	18	63				
RNASEH1	246243	broad.mit.edu	37	2	3599789	3599789	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:3599789C>T	ENST00000315212.3	-	3	709	c.354G>A	c.(352-354)atG>atA	p.M118I		NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1	118					mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		CGCTCGGCTTCATGTGCTTTG	0.517																																						uc002qxt.2		NA																	0				ovary(1)	1						c.(352-354)ATG>ATA		ribonuclease H1							98.0	94.0	96.0					2																	3599789		2203	4300	6503	SO:0001583	missense	246243				RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding	g.chr2:3599789C>T	AF039652	CCDS1647.1	2p25	2008-03-11			ENSG00000171865	ENSG00000171865	3.1.26.-		18466	protein-coding gene	gene with protein product	"""RNase H1"""	604123				12036296, 17964265	Standard	XR_244873		Approved		uc002qxt.3	O60930	OTTHUMG00000090279	ENST00000315212.3:c.354G>A	2.37:g.3599789C>T	ENSP00000313350:p.Met118Ile					RNASEH1_uc002qxs.2_Missense_Mutation_p.M1I	p.M118I	NM_002936	NP_002927	O60930	RNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)	3	444	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		118					B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	Missense_Mutation	SNP	ENST00000315212.3	37	c.354G>A	CCDS1647.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.611387	0.28712	.	.	ENSG00000171865	ENST00000315212	T	0.40476	1.03	6.03	-3.17	0.05202	.	0.995387	0.08152	N	0.989958	T	0.21761	0.0524	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.21280	-1.0250	10	0.37606	T	0.19	-23.3827	6.057	0.19816	0.0:0.1571:0.4002:0.4427	.	118	O60930	RNH1_HUMAN	I	118	ENSP00000313350:M118I	ENSP00000313350:M118I	M	-	3	0	RNASEH1	3577664	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.398000	0.07259	-0.378000	0.07918	-0.175000	0.13238	ATG		0.517	RNASEH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206605.2			15	38	0	0	0	0	15	38				
GRHL1	29841	broad.mit.edu	37	2	10136059	10136059	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:10136059C>T	ENST00000324907.9	+	13	1688	c.1552C>T	c.(1552-1554)Cct>Tct	p.P518S	GRHL1_ENST00000324883.5_Missense_Mutation_p.P329S|GRHL1_ENST00000405379.2_Missense_Mutation_p.P518S|GRHL1_ENST00000480736.1_5'UTR	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	518					cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		TGCTGTCCCTCCTTCTACCAA	0.458																																						uc002raa.2		NA																	0				pancreas(1)|skin(1)	2						c.(1552-1554)CCT>TCT		grainyhead-like 1							164.0	168.0	167.0					2																	10136059		2203	4300	6503	SO:0001583	missense	29841				cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding	g.chr2:10136059C>T	AF198489	CCDS33144.1, CCDS33144.2	2p25.2	2008-02-05	2005-07-11	2005-07-11	ENSG00000134317	ENSG00000134317			17923	protein-coding gene	gene with protein product		609786	"""transcription factor CP2-like 2"""	TFCP2L2		10644752, 12393799	Standard	NM_198182		Approved	LBP-32, MGR	uc002raa.3	Q9NZI5	OTTHUMG00000151704	ENST00000324907.9:c.1552C>T	2.37:g.10136059C>T	ENSP00000324693:p.Pro518Ser					GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Missense_Mutation_p.P329S|GRHL1_uc010yjb.1_Missense_Mutation_p.P367S	p.P518S	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN		Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)	13	1723	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		518					A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33	Missense_Mutation	SNP	ENST00000324907.9	37	c.1552C>T	CCDS33144.2	.	.	.	.	.	.	.	.	.	.	C	11.09	1.535606	0.27475	.	.	ENSG00000134317	ENST00000405379;ENST00000324883;ENST00000324907	T;T;T	0.20881	2.43;2.04;2.43	6.03	4.23	0.50019	.	0.165233	0.53938	N	0.000041	T	0.21103	0.0508	L	0.60845	1.875	0.53005	D	0.999963	P;B	0.37083	0.581;0.005	B;B	0.35727	0.209;0.008	T	0.01956	-1.1240	10	0.51188	T	0.08	-4.7093	9.6052	0.39630	0.3005:0.6314:0.0:0.0681	.	329;518	Q9NZI5-2;Q9NZI5	.;GRHL1_HUMAN	S	518;329;518	ENSP00000384209:P518S;ENSP00000324494:P329S;ENSP00000324693:P518S	ENSP00000324494:P329S	P	+	1	0	GRHL1	10053510	0.150000	0.22732	0.026000	0.17262	0.190000	0.23558	0.896000	0.28377	0.875000	0.35847	0.655000	0.94253	CCT		0.458	GRHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323543.2	NM_014552		42	92	0	0	0	0	42	92				
MFSD2B	388931	broad.mit.edu	37	2	24247130	24247130	+	Silent	SNP	G	G	T	rs370046992	byFrequency	TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:24247130G>T	ENST00000406420.3	+	13	1495	c.1479G>T	c.(1477-1479)ctG>ctT	p.L493L	MFSD2B_ENST00000338315.4_Silent_p.L493L	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	493					transport (GO:0006810)	integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						CCAGCCGGCTGAGCCTTCGGA	0.647																																						uc002reo.1		NA																	0				ovary(2)	2						c.(1477-1479)CTG>CTT		major facilitator superfamily domain containing							24.0	28.0	26.0					2																	24247130		2039	4175	6214	SO:0001819	synonymous_variant	388931				transport	integral to membrane		g.chr2:24247130G>T		CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.1479G>T	2.37:g.24247130G>T							p.L493L	NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN			13	1493	+			493					B5MC32	Silent	SNP	ENST00000406420.3	37	c.1479G>T	CCDS46228.1																																																																																				0.647	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1	NM_001080473		7	1	1	0	0.000157383	0.000163837	7	1				
SLC30A6	55676	broad.mit.edu	37	2	32445600	32445600	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:32445600C>G	ENST00000282587.5	+	14	1241	c.1204C>G	c.(1204-1206)Cta>Gta	p.L402V	SLC30A6_ENST00000379343.2_Missense_Mutation_p.L442V|SLC30A6_ENST00000406369.1_Missense_Mutation_p.L328V|SLC30A6_ENST00000435660.1_Missense_Mutation_p.L379V|SLC30A6_ENST00000538303.1_Missense_Mutation_p.L373V|SLC30A6_ENST00000357055.3_Missense_Mutation_p.L205V	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	402					cellular protein metabolic process (GO:0044267)|Golgi to endosome transport (GO:0006895)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AGTTATTCTTCTAAACACACA	0.418																																						uc002roe.1		NA																	0					0						c.(1204-1206)CTA>GTA		solute carrier family 30 (zinc transporter),							124.0	117.0	120.0					2																	32445600		2203	4300	6503	SO:0001583	missense	55676					Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity	g.chr2:32445600C>G	AK055663	CCDS1780.1, CCDS54341.1, CCDS54342.1, CCDS54343.1	2p22.3	2013-05-22			ENSG00000152683	ENSG00000152683		"""Solute carriers"""	19305	protein-coding gene	gene with protein product		611148					Standard	NM_017964		Approved	FLJ31101, ZNT6	uc002rof.2	Q6NXT4	OTTHUMG00000128456	ENST00000282587.5:c.1204C>G	2.37:g.32445600C>G	ENSP00000282587:p.Leu402Val					SLC30A6_uc002rof.1_Missense_Mutation_p.L442V|SLC30A6_uc010ymw.1_Missense_Mutation_p.L373V|SLC30A6_uc010ezr.1_Missense_Mutation_p.L379V|SLC30A6_uc002rog.1_Missense_Mutation_p.L205V|SLC30A6_uc010ezs.1_Missense_Mutation_p.L328V|SLC30A6_uc002roh.1_Missense_Mutation_p.L205V	p.L402V	NM_017964	NP_060434	Q6NXT4	ZNT6_HUMAN			14	1241	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		402			Cytoplasmic (Potential).		A5YM45|B7Z901|Q8N5C9|Q96NC3	Missense_Mutation	SNP	ENST00000282587.5	37	c.1204C>G	CCDS1780.1	.	.	.	.	.	.	.	.	.	.	C	9.635	1.137403	0.21123	.	.	ENSG00000152683	ENST00000379343;ENST00000282587;ENST00000435660;ENST00000538303;ENST00000357055;ENST00000406369	T;T	0.77358	-1.09;-1.09	5.44	3.29	0.37713	.	0.247528	0.35067	N	0.003461	T	0.58133	0.2101	N	0.19112	0.55	0.27831	N	0.941458	B;B;P;B	0.38827	0.104;0.167;0.649;0.104	B;B;B;B	0.36567	0.039;0.085;0.228;0.039	T	0.52525	-0.8564	10	0.40728	T	0.16	-17.6076	4.4566	0.11645	0.0:0.4203:0.1593:0.4204	.	373;379;442;402	B7Z901;Q6NXT4-3;Q6NXT4-2;Q6NXT4	.;.;.;ZNT6_HUMAN	V	442;402;379;373;205;328	ENSP00000282587:L402V;ENSP00000440678:L373V	ENSP00000282587:L402V	L	+	1	2	SLC30A6	32299104	0.021000	0.18746	0.973000	0.42090	0.990000	0.78478	0.308000	0.19314	0.511000	0.28236	0.591000	0.81541	CTA		0.418	SLC30A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250254.2			82	24	0	0	0	0	82	24				
BIRC6	57448	broad.mit.edu	37	2	32688441	32688441	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:32688441C>T	ENST00000421745.2	+	24	5067	c.4933C>T	c.(4933-4935)Cag>Tag	p.Q1645*		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1645					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTTGAAGCTTCAGCAACAGGT	0.423																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NA																	0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(4933-4935)CAG>TAG		baculoviral IAP repeat-containing 6							62.0	59.0	60.0					2																	32688441		2203	4300	6503	SO:0001587	stop_gained	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32688441C>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.4933C>T	2.37:g.32688441C>T	ENSP00000393596:p.Gln1645*						p.Q1645*	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			24	5067	+	Acute lymphoblastic leukemia(172;0.155)		1645					Q9ULD1	Nonsense_Mutation	SNP	ENST00000421745.2	37	c.4933C>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	46	12.618662	0.99683	.	.	ENSG00000115760	ENST00000421745	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	19.8481	0.96728	0.0:1.0:0.0:0.0	.	.	.	.	X	1645	.	ENSP00000393596:Q1645X	Q	+	1	0	BIRC6	32541945	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.705000	0.92388	0.650000	0.86243	CAG		0.423	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		5	18	0	0	0	0	5	18				
PREPL	9581	broad.mit.edu	37	2	44565513	44565513	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:44565513C>T	ENST00000409936.1	-	8	1569	c.1132G>A	c.(1132-1134)Gat>Aat	p.D378N	PREPL_ENST00000378520.3_Missense_Mutation_p.D378N|PREPL_ENST00000410081.1_Missense_Mutation_p.D378N|PREPL_ENST00000409957.1_Missense_Mutation_p.D289N|PREPL_ENST00000378511.3_Intron|PREPL_ENST00000541738.1_Missense_Mutation_p.D289N|PREPL_ENST00000409411.1_Missense_Mutation_p.D289N|PREPL_ENST00000260648.6_Missense_Mutation_p.D378N|PREPL_ENST00000409272.1_Missense_Mutation_p.D378N	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	378						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACTGAATCATCAGCCAGACCA	0.328																																						uc002ruf.2		NA																	0				ovary(1)	1						c.(1132-1134)GAT>AAT		prolyl endopeptidase-like isoform C							88.0	76.0	80.0					2																	44565513		2203	4300	6503	SO:0001583	missense	9581				proteolysis	cytosol	serine-type endopeptidase activity	g.chr2:44565513C>T	AB007896	CCDS33190.1, CCDS42675.1, CCDS42676.1, CCDS54353.1	2p22.1	2008-02-05			ENSG00000138078	ENSG00000138078			30228	protein-coding gene	gene with protein product		609557				11524703	Standard	NM_006036		Approved	KIAA0436	uc002ruk.2	Q4J6C6	OTTHUMG00000152791	ENST00000409936.1:c.1132G>A	2.37:g.44565513C>T	ENSP00000386543:p.Asp378Asn					PREPL_uc002rug.2_Missense_Mutation_p.D378N|PREPL_uc002ruh.2_Intron|PREPL_uc010fax.2_Missense_Mutation_p.D378N|PREPL_uc002rui.3_Missense_Mutation_p.D289N|PREPL_uc002ruj.1_Missense_Mutation_p.D289N|PREPL_uc002ruk.1_Missense_Mutation_p.D378N	p.D378N	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN			7	1167	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	378					A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	Missense_Mutation	SNP	ENST00000409936.1	37	c.1132G>A	CCDS33190.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064177	0.55432	.	.	ENSG00000138078	ENST00000541738;ENST00000409411;ENST00000409957;ENST00000409936;ENST00000260648;ENST00000409272;ENST00000410081;ENST00000378520	T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85	5.2	5.2	0.72013	Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (2);	0.578888	0.20316	N	0.094730	T	0.35393	0.0930	N	0.22421	0.69	0.09310	N	1	D;P	0.54964	0.969;0.529	P;B	0.50934	0.654;0.212	T	0.21211	-1.0252	10	0.06891	T	0.86	-21.9981	7.151	0.25610	0.2191:0.6949:0.0:0.086	.	378;378	Q4J6C6-2;Q4J6C6	.;PPCEL_HUMAN	N	289;289;289;378;378;378;378;378	ENSP00000439626:D289N;ENSP00000387095:D289N;ENSP00000387241:D289N;ENSP00000386543:D378N;ENSP00000260648:D378N;ENSP00000386909:D378N;ENSP00000386509:D378N	ENSP00000260648:D378N	D	-	1	0	PREPL	44419017	0.932000	0.31603	0.999000	0.59377	0.807000	0.45602	2.632000	0.46511	2.419000	0.82065	0.655000	0.94253	GAT		0.328	PREPL-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327900.1	NM_006036		19	9	0	0	0	0	19	9				
HK2	3099	broad.mit.edu	37	2	75115157	75115157	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:75115157G>C	ENST00000290573.2	+	16	2947	c.2347G>C	c.(2347-2349)Gaa>Caa	p.E783Q	HK2_ENST00000409174.1_Missense_Mutation_p.E755Q	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	783	Catalytic.|Hexokinase type-2 2.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GGGCATCTTTGAAACCAAGTT	0.512																																						uc002snd.2		NA																	0				ovary(1)|lung(1)	2						c.(2347-2349)GAA>CAA		hexokinase 2							111.0	105.0	107.0					2																	75115157		2203	4300	6503	SO:0001583	missense	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75115157G>C		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.2347G>C	2.37:g.75115157G>C	ENSP00000290573:p.Glu783Gln						p.E783Q	NM_000189	NP_000180	P52789	HXK2_HUMAN			16	4273	+			783			Catalytic.		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	c.2347G>C	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.899537	0.52227	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.98178	-4.77;-4.77	4.72	3.83	0.44106	Hexokinase, C-terminal (1);	0.089710	0.85682	D	0.000000	D	0.97151	0.9069	M	0.80508	2.5	0.54753	D	0.999984	B	0.18863	0.031	B	0.12156	0.007	D	0.96227	0.9165	10	0.40728	T	0.16	-17.0103	12.8939	0.58087	0.0:0.165:0.835:0.0	.	783	P52789	HXK2_HUMAN	Q	783;783;755	ENSP00000290573:E783Q;ENSP00000387140:E755Q	ENSP00000290573:E783Q	E	+	1	0	HK2	74968665	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.732000	0.84908	1.337000	0.45525	0.555000	0.69702	GAA		0.512	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		17	58	0	0	0	0	17	58				
NCK2	8440	broad.mit.edu	37	2	106498397	106498397	+	Silent	SNP	C	C	T	rs374552067		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:106498397C>T	ENST00000233154.4	+	4	1282	c.840C>T	c.(838-840)ttC>ttT	p.F280F	NCK2_ENST00000522586.1_Intron|NCK2_ENST00000393349.2_Silent_p.F280F|NCK2_ENST00000451463.2_Intron	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	280					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|lamellipodium assembly (GO:0030032)|negative regulation of cell proliferation (GO:0008285)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of translation (GO:0006417)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|lung(3)|ovary(1)	5						GCGGGCGCTTCGCGGGCAGAG	0.672																																						uc002tdg.2		NA																	0				ovary(1)|lung(1)	2						c.(838-840)TTC>TTT		NCK adaptor protein 2 isoform A							34.0	36.0	36.0					2																	106498397		2203	4298	6501	SO:0001819	synonymous_variant	8440				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity	g.chr2:106498397C>T	AF043119	CCDS33266.1	2q12	2013-02-14			ENSG00000071051	ENSG00000071051		"""SH2 domain containing"""	7665	protein-coding gene	gene with protein product		604930				9737977, 16752908	Standard	NM_001004720		Approved	NCKbeta	uc002tdi.3	O43639	OTTHUMG00000153116	ENST00000233154.4:c.840C>T	2.37:g.106498397C>T						NCK2_uc002tdh.2_Intron|NCK2_uc002tdi.2_Silent_p.F280F	p.F280F	NM_003581	NP_003572	O43639	NCK2_HUMAN			4	1282	+			280					D3DVK1|Q9BWN9|Q9UIC3	Silent	SNP	ENST00000233154.4	37	c.840C>T	CCDS33266.1																																																																																				0.672	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329634.1	NM_003581		10	38	0	0	0	0	10	38				
MYO7B	4648	broad.mit.edu	37	2	128354096	128354096	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:128354096C>T	ENST00000409816.2	+	18	2336	c.2304C>T	c.(2302-2304)ctC>ctT	p.L768L	MYO7B_ENST00000389524.4_Silent_p.L768L|MYO7B_ENST00000428314.1_Silent_p.L768L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	768	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GAGCGGCGCTCAGCATCCAGA	0.627																																						uc002top.2		NA																	0				ovary(1)|pancreas(1)	2						c.(2302-2304)CTC>CTT		myosin VIIB							50.0	56.0	54.0					2																	128354096		1946	4162	6108	SO:0001819	synonymous_variant	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128354096C>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2304C>T	2.37:g.128354096C>T							p.L768L	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	19	2357	+	Colorectal(110;0.1)		768			IQ 2.		Q14786|Q8TEE1	Silent	SNP	ENST00000409816.2	37	c.2304C>T	CCDS46405.1																																																																																				0.627	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		3	12	0	0	0	0	3	12				
MAP3K19	80122	broad.mit.edu	37	2	135738606	135738606	+	Silent	SNP	G	G	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:135738606G>T	ENST00000375845.3	-	9	3735	c.3705C>A	c.(3703-3705)gcC>gcA	p.A1235A	MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000392917.3_Silent_p.A367A|MAP3K19_ENST00000392918.3_Silent_p.A369A|MAP3K19_ENST00000315513.3_Silent_p.A96A|MAP3K19_ENST00000375844.3_Silent_p.A417A|MAP3K19_ENST00000358371.4_Silent_p.A1122A	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	1235	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			A -> V (in Ref. 2; BAB15538). {ECO:0000305}.			ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TGACTTCTGGGGCCATCCAAT	0.502																																						uc002tue.1		NA																	0				stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5						c.(3703-3705)GCC>GCA		Yeast Sps1/Ste20-related kinase 4 isoform 1							107.0	101.0	103.0					2																	135738606		2203	4300	6503	SO:0001819	synonymous_variant	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135738606G>T	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.3705C>A	2.37:g.135738606G>T						YSK4_uc002tuf.1_Silent_p.A417A|YSK4_uc010fnc.1_Silent_p.A369A|YSK4_uc010fnd.1_Silent_p.A1122A|YSK4_uc010zbg.1_Silent_p.A367A|YSK4_uc002tuh.3_Silent_p.A963A|YSK4_uc002tui.3_3'UTR	p.A1235A	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	9	3736	-			1235	A -> V (in Ref. 2; BAB15538).		Protein kinase.		B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Silent	SNP	ENST00000375845.3	37	c.3705C>A	CCDS2176.2																																																																																				0.502	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		13	37	1	0	4.38e-07	4.64e-07	13	37				
LRP1B	53353	broad.mit.edu	37	2	141771238	141771238	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:141771238T>C	ENST00000389484.3	-	14	3238	c.2267A>G	c.(2266-2268)tAt>tGt	p.Y756C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	756					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACCATTCATATAATCAGTCCA	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(2266-2268)TAT>TGT		low density lipoprotein-related protein 1B							132.0	126.0	128.0					2																	141771238		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141771238T>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2267A>G	2.37:g.141771238T>C	ENSP00000374135:p.Tyr756Cys	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.Y756C	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	14	3239	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	756			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.2267A>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.780026	0.90195	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91464	-2.85	5.77	5.77	0.91146	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	U	0.000002	D	0.95686	0.8597	M	0.85542	2.76	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.95975	0.8973	10	0.59425	D	0.04	.	16.0884	0.81073	0.0:0.0:0.0:1.0	.	756	Q9NZR2	LRP1B_HUMAN	C	756;694	ENSP00000374135:Y756C	ENSP00000374135:Y756C	Y	-	2	0	LRP1B	141487708	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.900000	0.87376	2.203000	0.70933	0.533000	0.62120	TAT		0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		45	52	0	0	0	0	45	52				
DPP4	1803	broad.mit.edu	37	2	162865118	162865118	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:162865118G>C	ENST00000360534.3	-	22	2501	c.1941C>G	c.(1939-1941)ttC>ttG	p.F647L	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	647					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	TTCCACACTTGAACACGCCAC	0.468																																						uc002ubz.2		NA																	0				ovary(3)	3						c.(1939-1941)TTC>TTG		dipeptidylpeptidase IV	Sitagliptin(DB01261)						103.0	91.0	95.0					2																	162865118		2203	4300	6503	SO:0001583	missense	1803				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	g.chr2:162865118G>C	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.1941C>G	2.37:g.162865118G>C	ENSP00000353731:p.Phe647Leu					DPP4_uc010fpb.2_Missense_Mutation_p.F323L	p.F647L	NM_001935	NP_001926	P27487	DPP4_HUMAN			22	2502	-			647			Extracellular (Potential).		Q53TN1	Missense_Mutation	SNP	ENST00000360534.3	37	c.1941C>G	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599111	0.87055	.	.	ENSG00000197635	ENST00000360534	T	0.59502	0.26	5.84	5.84	0.93424	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.77618	0.4157	M	0.86805	2.84	0.58432	D	0.999998	D	0.76494	0.999	D	0.71870	0.975	T	0.79664	-0.1709	10	0.52906	T	0.07	-22.4798	13.3465	0.60575	0.0718:0.0:0.9282:0.0	.	647	P27487	DPP4_HUMAN	L	647	ENSP00000353731:F647L	ENSP00000353731:F647L	F	-	3	2	DPP4	162573364	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.739000	0.47409	2.765000	0.95021	0.655000	0.94253	TTC		0.468	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			16	48	0	0	0	0	16	48				
IFIH1	64135	broad.mit.edu	37	2	163128753	163128753	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:163128753C>G	ENST00000263642.2	-	13	2994	c.2599G>C	c.(2599-2601)Gag>Cag	p.E867Q		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	867	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						GCATACTCCTCTGGTTTCATA	0.378																																						uc002uce.2		NA																	0				ovary(1)	1						c.(2599-2601)GAG>CAG		interferon induced with helicase C domain 1							93.0	82.0	86.0					2																	163128753		2203	4300	6503	SO:0001583	missense	64135				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding	g.chr2:163128753C>G	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"""helicard"""	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.2599G>C	2.37:g.163128753C>G	ENSP00000263642:p.Glu867Gln						p.E867Q	NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN			13	2821	-			867			Helicase C-terminal.		Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	ENST00000263642.2	37	c.2599G>C	CCDS2217.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.749992	0.49257	.	.	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.05580	3.42	5.5	4.56	0.56223	Helicase, C-terminal (1);	0.209202	0.48286	D	0.000183	T	0.05960	0.0155	L	0.35644	1.08	0.36927	D	0.891674	P	0.36874	0.572	B	0.30105	0.111	T	0.46317	-0.9200	10	0.29301	T	0.29	-15.2965	15.7677	0.78141	0.0:0.8636:0.1364:0.0	.	867	Q9BYX4	IFIH1_HUMAN	Q	867	ENSP00000263642:E867Q	ENSP00000263642:E867Q	E	-	1	0	IFIH1	162836999	0.321000	0.24625	1.000000	0.80357	0.984000	0.73092	2.085000	0.41634	2.567000	0.86603	0.650000	0.86243	GAG		0.378	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168		6	19	0	0	0	0	6	19				
IFIH1	64135	broad.mit.edu	37	2	163144765	163144765	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:163144765G>A	ENST00000263642.2	-	5	1370	c.975C>T	c.(973-975)atC>atT	p.I325I		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	325	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						GGCAGATGATGATATTCTTCC	0.493																																						uc002uce.2		NA																	0				ovary(1)	1						c.(973-975)ATC>ATT		interferon induced with helicase C domain 1							106.0	101.0	103.0					2																	163144765		2203	4300	6503	SO:0001819	synonymous_variant	64135				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding	g.chr2:163144765G>A	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"""helicard"""	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.975C>T	2.37:g.163144765G>A							p.I325I	NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN			5	1197	-			325			Helicase ATP-binding.		Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Silent	SNP	ENST00000263642.2	37	c.975C>T	CCDS2217.1																																																																																				0.493	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168		27	66	0	0	0	0	27	66				
SCN3A	6328	broad.mit.edu	37	2	165984368	165984368	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:165984368C>G	ENST00000360093.3	-	18	3657	c.3166G>C	c.(3166-3168)Gaa>Caa	p.E1056Q	SCN3A_ENST00000409101.3_Missense_Mutation_p.E1007Q|SCN3A_ENST00000283254.7_Missense_Mutation_p.E1056Q	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1056					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTGCTTATTTCAATTCCAGTA	0.373																																						uc002ucx.2		NA																	0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(3166-3168)GAA>CAA		sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)						128.0	124.0	125.0					2																	165984368		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165984368C>G	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.3166G>C	2.37:g.165984368C>G	ENSP00000353206:p.Glu1056Gln					SCN3A_uc002ucy.2_Missense_Mutation_p.E1007Q|SCN3A_uc002ucz.2_Missense_Mutation_p.E1007Q|SCN3A_uc002uda.1_Missense_Mutation_p.E876Q|SCN3A_uc002udb.1_Missense_Mutation_p.E876Q	p.E1056Q	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			18	3658	-			1056					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.3166G>C		.	.	.	.	.	.	.	.	.	.	C	21.8	4.205821	0.79127	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85	5.93	5.93	0.95920	Sodium ion transport-associated (1);	0.418178	0.22719	N	0.056477	D	0.92257	0.7544	M	0.84683	2.71	0.80722	D	1	P;P;P;P;P	0.49447	0.809;0.924;0.906;0.906;0.922	P;P;P;P;P	0.55785	0.485;0.784;0.677;0.677;0.474	D	0.92148	0.5726	10	0.59425	D	0.04	.	20.3437	0.98782	0.0:1.0:0.0:0.0	.	1056;1007;1007;1007;1056	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	Q	1056;1056;1007;1007	ENSP00000353206:E1056Q;ENSP00000283254:E1056Q;ENSP00000386726:E1007Q;ENSP00000403348:E1007Q	ENSP00000283254:E1056Q	E	-	1	0	SCN3A	165692614	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.442000	0.80503	2.815000	0.96918	0.561000	0.74099	GAA		0.373	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		16	58	0	0	0	0	16	58				
SCN1A	6323	broad.mit.edu	37	2	166901607	166901607	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:166901607G>A	ENST00000303395.4	-	10	1607	c.1608C>T	c.(1606-1608)ttC>ttT	p.F536F	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.F536F|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Silent_p.F536F|SCN1A_ENST00000423058.2_Silent_p.F536F			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	536					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTTCAATGGAGAAGCGAAAAC	0.428																																						uc010zcz.1		NA																	0				ovary(6)|skin(6)|large_intestine(1)	13						c.(1606-1608)TTC>TTT		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						185.0	177.0	179.0					2																	166901607		2203	4300	6503	SO:0001819	synonymous_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166901607G>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1608C>T	2.37:g.166901607G>A						SCN1A_uc002udo.3_Silent_p.F405F|SCN1A_uc010fpk.2_Silent_p.F405F	p.F536F	NM_006920	NP_008851	P35498	SCN1A_HUMAN			10	1626	-			536					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	c.1608C>T	CCDS54413.1																																																																																				0.428	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		13	104	0	0	0	0	13	104				
XIRP2	129446	broad.mit.edu	37	2	168107923	168107923	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:168107923G>C	ENST00000409195.1	+	9	10110	c.10021G>C	c.(10021-10023)Gag>Cag	p.E3341Q	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E3119Q|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E3341Q	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3166					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.E3341Q(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAGGGAATTTGAGCATGGCCC	0.393																																						uc002udx.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(10021-10023)GAG>CAG		xin actin-binding repeat containing 2 isoform 1							96.0	92.0	93.0					2																	168107923		1877	4106	5983	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168107923G>C	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.10021G>C	2.37:g.168107923G>C	ENSP00000386840:p.Glu3341Gln					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E3166Q|XIRP2_uc010fpq.2_Missense_Mutation_p.E3119Q|XIRP2_uc010fpr.2_Intron	p.E3341Q	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	10039	+			3166	E -> G (in Ref. 8; CAD91141).				A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.10021G>C	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	9.328	1.059705	0.19987	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02916	4.11;4.11;4.12	6.07	3.15	0.36227	.	0.207947	0.48767	D	0.000166	T	0.02767	0.0083	L	0.58669	1.825	0.28534	N	0.912456	P;P;B	0.41673	0.647;0.759;0.037	B;B;B	0.34652	0.091;0.187;0.022	T	0.37384	-0.9708	10	0.41790	T	0.15	-10.3954	2.9262	0.05785	0.2275:0.1305:0.5211:0.1208	.	3166;3166;3119	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Q	3341;3341;3119;755	ENSP00000386840:E3341Q;ENSP00000295237:E3341Q;ENSP00000387255:E3119Q	ENSP00000295237:E3341Q	E	+	1	0	XIRP2	167816169	0.838000	0.29461	0.967000	0.41034	0.959000	0.62525	2.290000	0.43531	0.908000	0.36671	-0.237000	0.12165	GAG		0.393	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		19	67	0	0	0	0	19	67				
TLK1	9874	broad.mit.edu	37	2	171854298	171854298	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:171854298T>C	ENST00000431350.2	-	19	2344	c.1940A>G	c.(1939-1941)gAg>gGg	p.E647G	TLK1_ENST00000434911.2_Missense_Mutation_p.E551G|TLK1_ENST00000360843.3_Missense_Mutation_p.E668G|TLK1_ENST00000442919.2_Missense_Mutation_p.E599G|TLK1_ENST00000521943.1_Missense_Mutation_p.E599G			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	647	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CTTTGGTGGCTCTTTTCCAAC	0.373																																						uc002ugn.2		NA																	0				central_nervous_system(1)	1						c.(1939-1941)GAG>GGG		tousled-like kinase 1 isoform 1							151.0	159.0	156.0					2																	171854298		2203	4300	6503	SO:0001583	missense	9874				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:171854298T>C	AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.1940A>G	2.37:g.171854298T>C	ENSP00000411099:p.Glu647Gly					TLK1_uc002ugo.2_Missense_Mutation_p.E668G|TLK1_uc002ugp.2_Missense_Mutation_p.E599G|TLK1_uc002ugq.2_RNA|TLK1_uc010zdn.1_Missense_Mutation_p.E551G	p.E647G	NM_012290	NP_036422	Q9UKI8	TLK1_HUMAN			19	2412	-			647			Protein kinase.		B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Missense_Mutation	SNP	ENST00000431350.2	37	c.1940A>G	CCDS2241.1	.	.	.	.	.	.	.	.	.	.	T	19.08	3.758574	0.69763	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000356075;ENST00000521943;ENST00000434911	T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18	6.06	6.06	0.98353	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.30070	0.0753	N	0.17674	0.51	0.80722	D	1	P;P;D	0.53619	0.578;0.564;0.961	B;P;D	0.63703	0.388;0.467;0.917	T	0.04811	-1.0925	10	0.27082	T	0.32	-11.1102	16.6245	0.84952	0.0:0.0:0.0:1.0	.	551;668;647	B4DX87;Q9UKI8-2;Q9UKI8	.;.;TLK1_HUMAN	G	599;647;668;113;599;551	ENSP00000402165:E599G;ENSP00000411099:E647G;ENSP00000354089:E668G;ENSP00000428113:E599G;ENSP00000409222:E551G	ENSP00000348376:E113G	E	-	2	0	TLK1	171562544	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.323000	0.78572	0.528000	0.53228	GAG		0.373	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1	NM_012290		94	94	0	0	0	0	94	94				
SCRN3	79634	broad.mit.edu	37	2	175264800	175264800	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:175264800G>A	ENST00000272732.6	+	3	392	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	SCRN3_ENST00000409673.3_Missense_Mutation_p.E97K	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	104							dipeptidase activity (GO:0016805)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			AGTTTGTGATGAAGAAGCACT	0.408																																						uc002uiq.2		NA																	0				ovary(1)	1						c.(310-312)GAA>AAA		secernin 3							202.0	195.0	197.0					2																	175264800		2203	4300	6503	SO:0001583	missense	79634				proteolysis		dipeptidase activity	g.chr2:175264800G>A	AF279776	CCDS2258.1, CCDS54420.1	2q31	2008-02-05			ENSG00000144306	ENSG00000144306			30382	protein-coding gene	gene with protein product		614967				12221138	Standard	NM_024583		Approved	FLJ23142	uc002uiq.3	Q0VDG4	OTTHUMG00000132332	ENST00000272732.6:c.310G>A	2.37:g.175264800G>A	ENSP00000272732:p.Glu104Lys					SCRN3_uc010zen.1_Missense_Mutation_p.E97K|SCRN3_uc010zeo.1_5'UTR|SCRN3_uc002uir.1_RNA	p.E104K	NM_024583	NP_078859	Q0VDG4	SCRN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.229)		3	398	+			104					B4DI11|C9JPC1|D3DPE0|Q7L1C5|Q9H5R5	Missense_Mutation	SNP	ENST00000272732.6	37	c.310G>A	CCDS2258.1	.	.	.	.	.	.	.	.	.	.	G	9.771	1.172636	0.21704	.	.	ENSG00000144306	ENST00000458563;ENST00000409673;ENST00000272732;ENST00000424069;ENST00000427038;ENST00000548031	T;T;T;T;T;T	0.29917	1.96;1.96;1.96;1.57;1.55;1.96	5.8	5.8	0.92144	.	0.195739	0.53938	D	0.000044	T	0.37376	0.1001	L	0.47078	1.49	0.43678	D	0.996118	P;P	0.48998	0.918;0.801	P;B	0.49953	0.627;0.438	T	0.04029	-1.0983	10	0.07644	T	0.81	-23.5267	20.0483	0.97617	0.0:0.0:1.0:0.0	.	97;104	B4DI11;Q0VDG4	.;SCRN3_HUMAN	K	104;97;104;104;104;104	ENSP00000396884:E104K;ENSP00000387142:E97K;ENSP00000272732:E104K;ENSP00000402086:E104K;ENSP00000408376:E104K;ENSP00000446727:E104K	ENSP00000272732:E104K	E	+	1	0	SCRN3	174973046	1.000000	0.71417	0.997000	0.53966	0.729000	0.41735	3.768000	0.55295	2.756000	0.94617	0.579000	0.79373	GAA		0.408	SCRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255451.2	NM_024583		38	126	0	0	0	0	38	126				
CHN1	1123	broad.mit.edu	37	2	175666502	175666502	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:175666502C>T	ENST00000409900.3	-	12	1454	c.1141G>A	c.(1141-1143)Gaa>Aaa	p.E381K	CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000409597.1_Missense_Mutation_p.E197K|CHN1_ENST00000295497.7_Missense_Mutation_p.E256K|CHN1_ENST00000409156.3_Missense_Mutation_p.E355K	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	381	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			TTCAGTGCTTCATGAAGGGTT	0.408			T	TAF15	extraskeletal myxoid chondrosarcoma																																	uc002uji.2		NA		Dom	yes		2	2q31-q32.1	1123	T	chimerin (chimaerin) 1			M	TAF15		extraskeletal myxoid chondrosarcoma		0				ovary(2)|skin(1)	3						c.(1141-1143)GAA>AAA		chimerin (chimaerin) 1 isoform a							201.0	200.0	200.0					2																	175666502		1960	4152	6112	SO:0001583	missense	1123				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr2:175666502C>T		CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1943	protein-coding gene	gene with protein product	"""Chimerin 1 (GTPase-activating protein, rho, 2)"", ""chimaerin 1"""	118423	"""Duane retraction syndrome 2"", ""chimerin (chimaerin) 1"""	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.1141G>A	2.37:g.175666502C>T	ENSP00000386741:p.Glu381Lys					CHN1_uc010zeq.1_Missense_Mutation_p.E355K|CHN1_uc002ujj.2_Missense_Mutation_p.E156K|CHN1_uc002ujg.2_Missense_Mutation_p.E256K	p.E381K	NM_001822	NP_001813	P15882	CHIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.226)		12	1671	-			381			Rho-GAP.		A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Missense_Mutation	SNP	ENST00000409900.3	37	c.1141G>A	CCDS46455.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895489	0.72639	.	.	ENSG00000128656	ENST00000409900;ENST00000295497;ENST00000409597;ENST00000409156;ENST00000409089;ENST00000444394	T;T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15;2.15	5.42	5.42	0.78866	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.044322	0.85682	D	0.000000	T	0.17916	0.0430	L	0.28458	0.855	0.80722	D	1	B;B;B	0.24483	0.004;0.002;0.104	B;B;B	0.16722	0.016;0.016;0.015	T	0.04229	-1.0967	10	0.23891	T	0.37	.	18.5642	0.91112	0.0:1.0:0.0:0.0	.	355;381;256	B4DV19;P15882;P15882-2	.;CHIN_HUMAN;.	K	381;256;197;355;173;156	ENSP00000386741:E381K;ENSP00000295497:E256K;ENSP00000386469:E197K;ENSP00000386470:E355K;ENSP00000386322:E173K;ENSP00000411911:E156K	ENSP00000295497:E256K	E	-	1	0	CHN1	175374748	1.000000	0.71417	0.994000	0.49952	0.984000	0.73092	7.776000	0.85560	2.690000	0.91761	0.591000	0.81541	GAA		0.408	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334453.1	NM_001822		30	107	0	0	0	0	30	107				
TTN	7273	broad.mit.edu	37	2	179599449	179599449	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:179599449C>T	ENST00000591111.1	-	49	14475	c.14251G>A	c.(14251-14253)Gaa>Aaa	p.E4751K	TTN_ENST00000589042.1_Missense_Mutation_p.E5068K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E3824K			Q8WZ42	TITIN_HUMAN	titin	12131	Ig-like 27.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAACTATTTCAGTACTGCAG	0.363																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(11470-11472)GAA>AAA		titin isoform N2-A							133.0	130.0	131.0					2																	179599449		1857	4101	5958	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179599449C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.14251G>A	2.37:g.179599449C>T	ENSP00000465570:p.Glu4751Lys					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E485K	p.E3824K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		48	11694	-			4751					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.11470G>A		.	.	.	.	.	.	.	.	.	.	C	14.01	2.408452	0.42715	.	.	ENSG00000155657	ENST00000342992	T	0.68181	-0.31	5.67	5.67	0.87782	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53753	0.1816	N	0.13043	0.29	0.80722	D	1	P	0.45176	0.852	B	0.39217	0.294	T	0.62959	-0.6743	9	0.87932	D	0	.	19.7571	0.96298	0.0:1.0:0.0:0.0	.	4751	Q8WZ42	TITIN_HUMAN	K	3824	ENSP00000343764:E3824K	ENSP00000343764:E3824K	E	-	1	0	TTN	179307694	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.256000	0.51492	2.668000	0.90789	0.563000	0.77884	GAA		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		19	80	0	0	0	0	19	80				
TTN	7273	broad.mit.edu	37	2	179640236	179640236	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:179640236C>T	ENST00000591111.1	-	28	6579	c.6355G>A	c.(6355-6357)Gaa>Aaa	p.E2119K	TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E2119K|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.E2119K|TTN_ENST00000342175.6_Missense_Mutation_p.E2073K|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E2073K|TTN_ENST00000460472.2_Missense_Mutation_p.E2073K|TTN_ENST00000342992.6_Missense_Mutation_p.E2119K			Q8WZ42	TITIN_HUMAN	titin	12807	Ig-like 10.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGACCGTTCAATTTTGACA	0.493																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(6355-6357)GAA>AAA		titin isoform N2-A							84.0	88.0	86.0					2																	179640236		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179640236C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.6355G>A	2.37:g.179640236C>T	ENSP00000465570:p.Glu2119Lys					TTN_uc010zfh.1_Missense_Mutation_p.E2073K|TTN_uc010zfi.1_Missense_Mutation_p.E2073K|TTN_uc010zfj.1_Missense_Mutation_p.E2073K|TTN_uc002unb.2_Missense_Mutation_p.E2119K|uc002unc.1_5'Flank	p.E2119K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	6579	-			2119					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.6355G>A		.	.	.	.	.	.	.	.	.	.	C	12.18	1.861607	0.32884	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	5.33	5.33	0.75918	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70911	0.3278	N	0.25647	0.755	0.41808	D	0.989957	D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0	D;D;D;D;D	0.87578	0.996;0.996;0.996;0.996;0.998	T	0.75243	-0.3386	9	0.87932	D	0	.	19.0299	0.92952	0.0:1.0:0.0:0.0	.	2073;2073;2073;2119;2119	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	K	2119;2073;2073;2073;2073;2119	ENSP00000343764:E2119K;ENSP00000434586:E2073K;ENSP00000340554:E2073K;ENSP00000352154:E2073K;ENSP00000354117:E2119K	ENSP00000340554:E2073K	E	-	1	0	TTN	179348481	1.000000	0.71417	0.228000	0.23943	0.508000	0.34012	7.792000	0.85828	2.503000	0.84419	0.655000	0.94253	GAA		0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	22	0	0	0	0	9	22				
CERKL	375298	broad.mit.edu	37	2	182468711	182468711	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:182468711G>T	ENST00000339098.5	-	2	333	c.334C>A	c.(334-336)Cag>Aag	p.Q112K	CERKL_ENST00000410087.3_Missense_Mutation_p.Q112K|CERKL_ENST00000374969.2_Missense_Mutation_p.Q112K|CERKL_ENST00000374970.2_Missense_Mutation_p.Q112K|CERKL_ENST00000409440.3_Missense_Mutation_p.Q112K|CERKL_ENST00000479558.1_5'UTR			Q49MI3	CERKL_HUMAN	ceramide kinase-like	112					negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CCACTTCTCTGCTGTTTAACA	0.318																																						uc002unx.2		NA																	0				ovary(2)|kidney(1)|skin(1)	4						c.(334-336)CAG>AAG		ceramide kinase-like isoform b							76.0	72.0	73.0					2																	182468711		2203	4299	6502	SO:0001583	missense	375298				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus	diacylglycerol kinase activity	g.chr2:182468711G>T	BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"""retinitis pigmentosa 26 (autosomal recessive)"""	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.334C>A	2.37:g.182468711G>T	ENSP00000341159:p.Gln112Lys					CERKL_uc002uny.2_Missense_Mutation_p.Q112K|CERKL_uc010zfm.1_Missense_Mutation_p.Q112K|CERKL_uc002unz.2_5'UTR|CERKL_uc002uoa.2_Missense_Mutation_p.Q112K|CERKL_uc002uob.2_5'UTR|CERKL_uc002uoc.2_Missense_Mutation_p.Q112K|CERKL_uc010frk.2_RNA|CERKL_uc002uod.1_5'UTR|CERKL_uc002uoe.2_Missense_Mutation_p.Q112K	p.Q112K	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		2	435	-			112					B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Missense_Mutation	SNP	ENST00000339098.5	37	c.334C>A	CCDS42789.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.515554	0.27123	.	.	ENSG00000188452	ENST00000410087;ENST00000409440;ENST00000374969;ENST00000339098;ENST00000374970	T;T;T;T;T	0.31510	2.25;2.48;1.49;2.52;1.5	4.7	3.79	0.43588	.	1.724340	0.03325	N	0.192430	T	0.22399	0.0540	N	0.24115	0.695	0.09310	N	1	B;B;B;B;B	0.27013	0.166;0.017;0.131;0.052;0.031	B;B;B;B;B	0.24701	0.025;0.013;0.055;0.037;0.018	T	0.24728	-1.0152	10	0.10902	T	0.67	.	8.7778	0.34774	0.0:0.1429:0.5729:0.2842	.	112;112;112;112;112	B4DEY1;Q49MI3-4;Q49MI3-3;Q49MI3-2;Q49MI3	.;.;.;.;CERKL_HUMAN	K	112	ENSP00000386725:Q112K;ENSP00000387080:Q112K;ENSP00000364108:Q112K;ENSP00000341159:Q112K;ENSP00000364109:Q112K	ENSP00000341159:Q112K	Q	-	1	0	CERKL	182176956	0.031000	0.19500	0.002000	0.10522	0.973000	0.67179	1.135000	0.31454	1.019000	0.39547	0.650000	0.86243	CAG		0.318	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1			17	11	1	0	1.57e-10	1.68e-10	17	11				
SSFA2	6744	broad.mit.edu	37	2	182767020	182767020	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:182767020G>C	ENST00000431877.2	+	8	1419	c.1240G>C	c.(1240-1242)Gaa>Caa	p.E414Q	SSFA2_ENST00000428267.2_Missense_Mutation_p.E261Q|SSFA2_ENST00000320370.7_Missense_Mutation_p.E414Q|SSFA2_ENST00000409001.1_Missense_Mutation_p.E414Q	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	414						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TGGTATTGTAGAATCCAAATT	0.368																																						uc002uoi.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(1240-1242)GAA>CAA		sperm specific antigen 2 isoform 1							75.0	80.0	79.0					2																	182767020		2199	4299	6498	SO:0001583	missense	6744					cytoplasm|plasma membrane	actin binding	g.chr2:182767020G>C	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.1240G>C	2.37:g.182767020G>C	ENSP00000388731:p.Glu414Gln					SSFA2_uc002uoh.2_Missense_Mutation_p.E414Q|SSFA2_uc002uoj.2_Missense_Mutation_p.E414Q|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Missense_Mutation_p.E261Q|SSFA2_uc002uol.2_Missense_Mutation_p.E261Q	p.E414Q	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		8	1562	+			414					A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	37	c.1240G>C	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	G	5.257	0.232888	0.09969	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267	T;T;T;T	0.14516	2.73;2.5;2.73;2.73	5.72	0.793	0.18632	.	1.355790	0.04045	N	0.303845	T	0.15478	0.0373	L	0.57536	1.79	0.09310	N	1	P;P;P;P	0.41265	0.61;0.61;0.61;0.744	B;B;B;B	0.38616	0.277;0.154;0.154;0.154	T	0.29792	-1.0000	10	0.30078	T	0.28	-1.3453	6.5472	0.22412	0.3233:0.1164:0.5604:0.0	.	261;414;414;414	E7END2;E9PHV5;P28290;P28290-3	.;.;SSFA2_HUMAN;.	Q	414;414;414;261	ENSP00000388731:E414Q;ENSP00000314669:E414Q;ENSP00000387319:E414Q;ENSP00000409867:E261Q	ENSP00000314669:E414Q	E	+	1	0	SSFA2	182475265	0.168000	0.22989	0.002000	0.10522	0.016000	0.09150	1.220000	0.32491	0.144000	0.18951	-0.136000	0.14681	GAA		0.368	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		13	50	0	0	0	0	13	50				
DNAH7	56171	broad.mit.edu	37	2	196673414	196673414	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:196673414C>T	ENST00000312428.6	-	53	10175	c.10075G>A	c.(10075-10077)Gat>Aat	p.D3359N		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3359					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACCAAACTATCATATACTTTC	0.323																																						uc002utj.3		NA																	0				skin(10)|ovary(2)	12						c.(10075-10077)GAT>AAT		dynein, axonemal, heavy chain 7							139.0	129.0	132.0					2																	196673414		1839	4086	5925	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196673414C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.10075G>A	2.37:g.196673414C>T	ENSP00000311273:p.Asp3359Asn						p.D3359N	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			53	10176	-			3359					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.10075G>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885513	0.72410	.	.	ENSG00000118997	ENST00000312428	T	0.09723	2.95	5.65	5.65	0.86999	Dynein heavy chain (1);	0.049984	0.85682	D	0.000000	T	0.36413	0.0966	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.03315	-1.1049	10	0.59425	D	0.04	.	19.3096	0.94182	0.0:1.0:0.0:0.0	.	3359	Q8WXX0	DYH7_HUMAN	N	3359	ENSP00000311273:D3359N	ENSP00000311273:D3359N	D	-	1	0	DNAH7	196381659	1.000000	0.71417	0.970000	0.41538	0.948000	0.59901	5.136000	0.64783	2.655000	0.90218	0.563000	0.77884	GAT		0.323	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		21	94	0	0	0	0	21	94				
DNAH7	56171	broad.mit.edu	37	2	196729233	196729233	+	Silent	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:196729233C>G	ENST00000312428.6	-	41	7246	c.7146G>C	c.(7144-7146)gtG>gtC	p.V2382V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2382	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCCTTAAGATCACTTTTAAAT	0.398																																						uc002utj.3		NA																	0				skin(10)|ovary(2)	12						c.(7144-7146)GTG>GTC		dynein, axonemal, heavy chain 7							107.0	105.0	106.0					2																	196729233		1916	4129	6045	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196729233C>G	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.7146G>C	2.37:g.196729233C>G							p.V2382V	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			41	7247	-			2382			AAA 4 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.7146G>C	CCDS42794.1																																																																																				0.398	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		16	71	0	0	0	0	16	71				
SF3B1	23451	broad.mit.edu	37	2	198265441	198265441	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:198265441C>T	ENST00000335508.6	-	18	2807	c.2716G>A	c.(2716-2718)Gag>Aag	p.E906K	SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	906					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTCATTACCTCTGTAGTCTGT	0.308			Mis		myelodysplastic syndrome																																	uc002uue.2		NA		Dom	yes		2	2q33.1	23451		"""splicing factor 3b, subunit 1, 155kDa"""			L					0				pancreas(3)|ovary(1)|breast(1)|skin(1)	6						c.(2716-2718)GAG>AAG		splicing factor 3b, subunit 1 isoform 1							104.0	103.0	103.0					2																	198265441		2202	4300	6502	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198265441C>T	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2716G>A	2.37:g.198265441C>T	ENSP00000335321:p.Glu906Lys						p.E906K	NM_012433	NP_036565	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		18	2764	-			906					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.2716G>A	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	32	5.172896	0.94807	.	.	ENSG00000115524	ENST00000335508	.	.	.	5.61	5.61	0.85477	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84019	0.5380	M	0.88181	2.935	0.80722	D	1	D	0.57899	0.981	P	0.60949	0.881	D	0.86053	0.1527	9	0.66056	D	0.02	.	20.0015	0.97412	0.0:1.0:0.0:0.0	.	906	O75533	SF3B1_HUMAN	K	906	.	ENSP00000335321:E906K	E	-	1	0	SF3B1	197973686	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.697000	0.84279	2.803000	0.96430	0.655000	0.94253	GAG		0.308	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			16	77	0	0	0	0	16	77				
CTLA4	1493	broad.mit.edu	37	2	204732684	204732684	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:204732684C>T	ENST00000302823.3	+	1	176	c.19C>T	c.(19-21)Cag>Tag	p.Q7*	CTLA4_ENST00000295854.6_Nonsense_Mutation_p.Q7*|CTLA4_ENST00000487393.1_3'UTR|CTLA4_ENST00000472206.1_Nonsense_Mutation_p.Q7*|CTLA4_ENST00000427473.2_5'Flank	NM_005214.4	NP_005205.2	P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4	7					B cell receptor signaling pathway (GO:0050853)|cellular response to DNA damage stimulus (GO:0006974)|immune response (GO:0006955)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of immune response (GO:0050777)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of apoptotic process (GO:0043065)|T cell costimulation (GO:0031295)	clathrin-coated endocytic vesicle (GO:0045334)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				large_intestine(4)|lung(4)|skin(1)	9					Ipilimumab(DB06186)	CCTTGGATTTCAGCGGCACAA	0.498																																						uc002vak.1		NA																	0					0						c.(19-21)CAG>TAG		cytotoxic T-lymphocyte-associated protein 4	Abatacept(DB01281)						124.0	109.0	114.0					2																	204732684		2203	4300	6503	SO:0001587	stop_gained	1493				B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation	clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm		g.chr2:204732684C>T		CCDS2362.1, CCDS42803.1	2q33	2014-02-03			ENSG00000163599	ENSG00000163599		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	2505	protein-coding gene	gene with protein product		123890	"""celiac disease 3"", ""insulin-dependent diabetes mellitus 12"""	CELIAC3, IDDM12		3220103, 8817351	Standard	NM_005214		Approved	CD152, CD, GSE, CD28, ICOS	uc002vak.2	P16410	OTTHUMG00000132877	ENST00000302823.3:c.19C>T	2.37:g.204732684C>T	ENSP00000303939:p.Gln7*					CTLA4_uc002val.1_Nonsense_Mutation_p.Q7*|CTLA4_uc010fty.1_Nonsense_Mutation_p.Q7*|CTLA4_uc010ftz.1_RNA	p.Q7*	NM_005214	NP_005205	P16410	CTLA4_HUMAN			1	176	+			7					A0N1S0|E9PDH0|O95653|Q0PP65|Q52MC1|Q53TD5|Q5S005|Q8WXJ1|Q96P43|Q9UKN9	Nonsense_Mutation	SNP	ENST00000302823.3	37	c.19C>T	CCDS2362.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.641883	0.87859	.	.	ENSG00000163599	ENST00000302823;ENST00000541886;ENST00000295854;ENST00000472206	.	.	.	6.02	4.07	0.47477	.	0.978321	0.08354	N	0.958732	.	.	.	.	.	.	0.19775	N	0.999959	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-2.8936	4.1692	0.10322	0.2312:0.575:0.0:0.1938	.	.	.	.	X	7	.	ENSP00000295854:Q7X	Q	+	1	0	CTLA4	204440929	0.065000	0.20965	0.424000	0.26647	0.489000	0.33432	0.235000	0.17948	1.551000	0.49450	0.655000	0.94253	CAG		0.498	CTLA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256365.1	NM_005214		14	18	0	0	0	0	14	18				
COL4A3	1285	broad.mit.edu	37	2	228159768	228159768	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:228159768G>A	ENST00000396578.3	+	40	3669	c.3507G>A	c.(3505-3507)aaG>aaA	p.K1169K	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1169	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CCGGAGAAAAGGGAGAAACGG	0.408																																						uc002vom.1		NA																	0				skin(2)|ovary(1)	3						c.(3505-3507)AAG>AAA		alpha 3 type IV collagen isoform 1 precursor							118.0	121.0	120.0					2																	228159768		1855	4095	5950	SO:0001819	synonymous_variant	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228159768G>A		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.3507G>A	2.37:g.228159768G>A						COL4A3_uc002von.1_Silent_p.K1169K|COL4A3_uc002voo.1_Silent_p.K1169K|COL4A3_uc002vop.1_Silent_p.K1169K|uc002voq.1_Intron|uc002vor.1_Intron	p.K1169K	NM_000091	NP_000082	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	40	3669	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	1169			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Silent	SNP	ENST00000396578.3	37	c.3507G>A	CCDS42829.1																																																																																				0.408	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		54	25	0	0	0	0	54	25				
SP100	6672	broad.mit.edu	37	2	231368918	231368918	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:231368918G>C	ENST00000264052.5	+	21	2138	c.1783G>C	c.(1783-1785)Gat>Cat	p.D595H	SP100_ENST00000340126.4_Missense_Mutation_p.D595H|RN7SL834P_ENST00000461450.2_RNA|SP100_ENST00000409112.1_Missense_Mutation_p.D595H	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	595	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AATTCCCAAAGATGAAAATAT	0.403																																						uc002vqt.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(1783-1785)GAT>CAT		nuclear antigen Sp100 isoform 2							108.0	115.0	113.0					2																	231368918		2203	4300	6503	SO:0001583	missense	6672				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	g.chr2:231368918G>C	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.1783G>C	2.37:g.231368918G>C	ENSP00000264052:p.Asp595His					SP100_uc002vqs.2_Missense_Mutation_p.D595H|SP100_uc002vqu.1_Missense_Mutation_p.D595H|SP100_uc010fxp.1_5'UTR	p.D595H	NM_003113	NP_003104	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	21	1924	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	595			SAND.		B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000264052.5	37	c.1783G>C	CCDS2477.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.183488	0.38609	.	.	ENSG00000067066	ENST00000264052;ENST00000409112;ENST00000340126;ENST00000414648	T;D;T	0.81908	2.08;-1.55;0.07	4.54	2.7	0.31948	SAND domain-like (2);SAND domain (1);	1.381260	0.05386	N	0.538219	D	0.90270	0.6957	M	0.80982	2.52	0.09310	N	0.999998	D;D;D	0.76494	0.998;0.995;0.999	D;D;D	0.71870	0.924;0.957;0.975	T	0.70753	-0.4786	10	0.72032	D	0.01	.	5.6238	0.17470	0.0992:0.0:0.7071:0.1937	.	595;595;595	P23497-4;P23497;E7EUA7	.;SP100_HUMAN;.	H	595;595;595;78	ENSP00000264052:D595H;ENSP00000386427:D595H;ENSP00000343023:D595H	ENSP00000264052:D595H	D	+	1	0	SP100	231077162	0.021000	0.18746	0.007000	0.13788	0.070000	0.16714	0.781000	0.26774	0.813000	0.34350	0.655000	0.94253	GAT		0.403	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113		20	50	0	0	0	0	20	50				
ARMC9	80210	broad.mit.edu	37	2	232143099	232143099	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:232143099G>A	ENST00000349938.4	+	16	1673	c.1479G>A	c.(1477-1479)aaG>aaA	p.K493K	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	493						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		CCATAGGGAAGAACATGTGTG	0.483																																						uc002vrq.3		NA																	0				ovary(1)	1						c.(1477-1479)AAG>AAA		armadillo repeat containing 9							183.0	172.0	176.0					2																	232143099		2203	4300	6503	SO:0001819	synonymous_variant	80210						binding	g.chr2:232143099G>A	BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"""Armadillo repeat containing"""	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.1479G>A	2.37:g.232143099G>A						ARMC9_uc002vrp.3_Silent_p.K493K|ARMC9_uc002vrr.1_RNA	p.K493K	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)	16	1591	+		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)	493					Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Silent	SNP	ENST00000349938.4	37	c.1479G>A	CCDS2484.1																																																																																				0.483	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139		27	82	0	0	0	0	27	82				
HDAC4	9759	broad.mit.edu	37	2	239990186	239990186	+	Splice_Site	SNP	T	T	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr2:239990186T>C	ENST00000345617.3	-	23	3644	c.2853A>G	c.(2851-2853)agA>agG	p.R951R	AC017028.6_ENST00000577291.1_RNA|AC017028.2_ENST00000578555.1_RNA|AC017028.5_ENST00000582834.1_RNA|MIR4440_ENST00000583986.1_RNA|AC017028.4_ENST00000577359.1_RNA|AC017028.9_ENST00000581111.1_RNA|AC017028.3_ENST00000584260.1_RNA|HDAC4_ENST00000543185.1_Splice_Site_p.R535R|AC017028.10_ENST00000579161.1_RNA	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	951	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		ACCACTTACATCTGGCGGAGA	0.572																																						uc002vyk.3		NA																	0				breast(3)|skin(2)|ovary(1)	6						c.(2851-2853)AGA>AGG		histone deacetylase 4							55.0	55.0	55.0					2																	239990186		2203	4300	6503	SO:0001630	splice_region_variant	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:239990186T>C	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2854+1A>G	2.37:g.239990186T>C						HDAC4_uc010fyy.2_Silent_p.R908R	p.R951R	NM_006037	NP_006028	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	23	3645	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	951			Histone deacetylase.		Q9UND6	Silent	SNP	ENST00000345617.3	37	c.2853A>G	CCDS2529.1																																																																																				0.572	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037	Silent	4	22	0	0	0	0	4	22				
CDC25B	994	broad.mit.edu	37	20	3782998	3782998	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr20:3782998G>A	ENST00000245960.5	+	11	1866	c.1169G>A	c.(1168-1170)cGa>cAa	p.R390Q	CDC25B_ENST00000439880.2_Missense_Mutation_p.R376Q|CDC25B_ENST00000379598.5_Missense_Mutation_p.R299Q|CDC25B_ENST00000344256.6_Missense_Mutation_p.R326Q|CDC25B_ENST00000340833.4_Missense_Mutation_p.R349Q|CDC25B_ENST00000467519.1_3'UTR	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	390					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						AGTGACCACCGAGAGCTGATT	0.567																																						uc002wjn.2		NA																	0				lung(3)|ovary(2)	5						c.(1168-1170)CGA>CAA		cell division cycle 25B isoform 1							61.0	60.0	61.0					20																	3782998		2203	4300	6503	SO:0001583	missense	994				cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr20:3782998G>A		CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1726	protein-coding gene	gene with protein product		116949	"""cell division cycle 25B"", ""cell division cycle 25 homolog B (S. cerevisiae)"", ""cell division cycle 25 homolog B (S. pombe)"""			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.1169G>A	20.37:g.3782998G>A	ENSP00000245960:p.Arg390Gln					CDC25B_uc010zqk.1_Missense_Mutation_p.R326Q|CDC25B_uc010zql.1_Missense_Mutation_p.R312Q|CDC25B_uc010zqm.1_Missense_Mutation_p.R299Q|CDC25B_uc002wjl.2_Missense_Mutation_p.R278Q|CDC25B_uc002wjm.2_Missense_Mutation_p.R278Q|CDC25B_uc002wjo.2_Missense_Mutation_p.R376Q|CDC25B_uc002wjp.2_Missense_Mutation_p.R349Q|CDC25B_uc002wjq.2_Missense_Mutation_p.R190Q|CDC25B_uc010gbc.2_5'Flank	p.R390Q	NM_021873	NP_068659	P30305	MPIP2_HUMAN			11	1947	+			390					D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Missense_Mutation	SNP	ENST00000245960.5	37	c.1169G>A	CCDS13067.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090659	0.76756	.	.	ENSG00000101224	ENST00000344256;ENST00000379598;ENST00000245960;ENST00000439880;ENST00000340833	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	4.85	3.89	0.44902	Rhodanese-like (1);	0.347042	0.27986	N	0.017051	T	0.39306	0.1073	L	0.61218	1.895	0.34710	D	0.72764	D;D;D;D;D;D	0.71674	0.969;0.969;0.969;0.982;0.982;0.998	B;B;B;B;B;P	0.54856	0.252;0.252;0.252;0.436;0.436;0.762	T	0.49341	-0.8950	10	0.12766	T	0.61	-23.5439	11.1044	0.48194	0.0927:0.0:0.9073:0.0	.	299;312;326;349;376;390	B4DQZ3;B4DRC3;B4DIG0;P30305-3;P30305-2;P30305	.;.;.;.;.;MPIP2_HUMAN	Q	326;299;390;376;349	ENSP00000339125:R326Q;ENSP00000368918:R299Q;ENSP00000245960:R390Q;ENSP00000405972:R376Q;ENSP00000339170:R349Q	ENSP00000245960:R390Q	R	+	2	0	CDC25B	3730998	0.002000	0.14202	0.836000	0.33094	0.849000	0.48306	1.199000	0.32235	1.171000	0.42768	0.563000	0.77884	CGA		0.567	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077779.2	NM_021874		13	22	0	0	0	0	13	22				
FLRT3	23767	broad.mit.edu	37	20	14306766	14306766	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr20:14306766C>G	ENST00000378053.3	-	2	1643	c.1387G>C	c.(1387-1389)Gag>Cag	p.E463Q	MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.E463Q|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000462077.1_5'Flank	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	463	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		ACCAAGTACTCACTGCGTTCC	0.468																																						uc002wov.1		NA																	0				kidney(1)	1						c.(1387-1389)GAG>CAG		fibronectin leucine rich transmembrane protein 3							86.0	84.0	84.0					20																	14306766		2203	4300	6503	SO:0001583	missense	23767				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr20:14306766C>G	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"""Fibronectin type III domain containing"""	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.1387G>C	20.37:g.14306766C>G	ENSP00000367292:p.Glu463Gln					MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.E463Q	p.E463Q	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)	3	1854	-		Colorectal(1;0.0464)	463			Extracellular (Potential).|Fibronectin type-III.		D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Missense_Mutation	SNP	ENST00000378053.3	37	c.1387G>C	CCDS13121.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.097315	0.37048	.	.	ENSG00000125848	ENST00000378053;ENST00000341420;ENST00000541882	T;T	0.42131	0.98;0.98	6.06	6.06	0.98353	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.056980	0.64402	D	0.000002	T	0.40473	0.1118	L	0.40543	1.245	0.80722	D	1	B	0.13594	0.008	B	0.14023	0.01	T	0.08106	-1.0738	10	0.38643	T	0.18	-7.0489	20.6397	0.99537	0.0:1.0:0.0:0.0	.	463	Q9NZU0	FLRT3_HUMAN	Q	463	ENSP00000367292:E463Q;ENSP00000339912:E463Q	ENSP00000339912:E463Q	E	-	1	0	FLRT3	14254766	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.999000	0.70665	2.880000	0.98712	0.650000	0.86243	GAG		0.468	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	NM_013281		16	32	0	0	0	0	16	32				
XKR7	343702	broad.mit.edu	37	20	30584930	30584930	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr20:30584930G>A	ENST00000562532.2	+	3	1584	c.1410G>A	c.(1408-1410)acG>acA	p.T470T		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	470						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ACGCCATCACGAGTCCCCCCA	0.682																																						uc002wxe.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(1408-1410)ACG>ACA		XK, Kell blood group complex subunit-related							33.0	35.0	34.0					20																	30584930		2203	4300	6503	SO:0001819	synonymous_variant	343702					integral to membrane		g.chr20:30584930G>A	AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 7"", ""chromosome 20 open reading frame 159"""	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.1410G>A	20.37:g.30584930G>A							p.T470T	NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		3	1584	+			470					Q9NUG5	Silent	SNP	ENST00000562532.2	37	c.1410G>A	CCDS33459.1																																																																																				0.682	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078597.3	NM_001011718		14	25	0	0	0	0	14	25				
MAPRE1	22919	broad.mit.edu	37	20	31413815	31413815	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr20:31413815C>G	ENST00000375571.5	+	2	221	c.82C>G	c.(82-84)Ctg>Gtg	p.L28V		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	28	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of microtubule plus-end binding (GO:1903033)|protein localization to microtubule (GO:0035372)	cell projection membrane (GO:0031253)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule plus-end (GO:0035371)	microtubule plus-end binding (GO:0051010)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						CAATGAGTCTCTGCAGTTGAA	0.433																																						uc002wyh.2		NA																	0					0						c.(82-84)CTG>GTG		microtubule-associated protein, RP/EB family,							164.0	140.0	148.0					20																	31413815		2203	4300	6503	SO:0001583	missense	22919				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding	g.chr20:31413815C>G	U24166	CCDS13208.1	20q11.1-q11.3	2013-01-17			ENSG00000101367	ENSG00000101367			6890	protein-coding gene	gene with protein product	"""adenomatous polyposis coli-binding protein EB1"""	603108				7606712, 9724749, 11470413	Standard	NM_012325		Approved	EB1	uc002wyh.3	Q15691	OTTHUMG00000032228	ENST00000375571.5:c.82C>G	20.37:g.31413815C>G	ENSP00000364721:p.Leu28Val						p.L28V	NM_012325	NP_036457	Q15691	MARE1_HUMAN			2	221	+			28			CH.		B2R6I7|E1P5M8|Q3KQS8	Missense_Mutation	SNP	ENST00000375571.5	37	c.82C>G	CCDS13208.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.546575	0.65198	.	.	ENSG00000101367	ENST00000375571	D	0.96104	-3.91	5.76	4.82	0.62117	Calponin homology domain (4);	0.000000	0.64402	D	0.000001	D	0.93733	0.7997	M	0.76328	2.33	0.80722	D	1	P	0.34934	0.476	B	0.33799	0.17	D	0.92072	0.5665	10	0.42905	T	0.14	-8.873	9.9825	0.41821	0.0:0.8479:0.0:0.1521	.	28	Q15691	MARE1_HUMAN	V	28	ENSP00000364721:L28V	ENSP00000364721:L28V	L	+	1	2	MAPRE1	30877476	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	1.311000	0.33562	1.426000	0.47256	0.655000	0.94253	CTG		0.433	MAPRE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078647.2	NM_012325		43	73	0	0	0	0	43	73				
BPIFB2	80341	broad.mit.edu	37	20	31607532	31607532	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr20:31607532C>T	ENST00000170150.3	+	11	1251	c.1056C>T	c.(1054-1056)ttC>ttT	p.F352F		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	352						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										ACTCGGCTTTCCAGTCCCTCT	0.637																																						uc002wyj.2		NA																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(1054-1056)TTC>TTT		bactericidal/permeability-increasing							47.0	45.0	45.0					20																	31607532		2203	4300	6503	SO:0001819	synonymous_variant	80341					extracellular region	lipid binding	g.chr20:31607532C>T	AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"""BPI fold containing"""	16177	protein-coding gene	gene with protein product		614108	"""bactericidal/permeability-increasing protein-like 1"""	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.1056C>T	20.37:g.31607532C>T							p.F352F	NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN			11	1250	+			352					Q6UWN3|Q6ZME0|Q8NFQ7	Silent	SNP	ENST00000170150.3	37	c.1056C>T	CCDS13210.1																																																																																				0.637	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227		6	27	0	0	0	0	6	27				
PTPRT	11122	broad.mit.edu	37	20	40980903	40980903	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr20:40980903G>A	ENST00000373187.1	-	10	1582	c.1583C>T	c.(1582-1584)tCg>tTg	p.S528L	PTPRT_ENST00000373184.1_Missense_Mutation_p.S528L|PTPRT_ENST00000373198.4_Missense_Mutation_p.S528L|PTPRT_ENST00000356100.2_Missense_Mutation_p.S528L|PTPRT_ENST00000373201.1_Missense_Mutation_p.S528L|PTPRT_ENST00000373193.3_Missense_Mutation_p.S528L|PTPRT_ENST00000373190.1_Missense_Mutation_p.S528L			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	528	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGGGTCCAGCGAGCCGACAGC	0.532																																						uc002xkg.2		NA																	0				skin(8)|ovary(7)|lung(5)	20						c.(1582-1584)TCG>TTG		protein tyrosine phosphatase, receptor type, T							61.0	67.0	65.0					20																	40980903		1968	4145	6113	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40980903G>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1583C>T	20.37:g.40980903G>A	ENSP00000362283:p.Ser528Leu					PTPRT_uc010ggj.2_Missense_Mutation_p.S528L	p.S528L	NM_007050	NP_008981	O14522	PTPRT_HUMAN			10	1767	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	528			Extracellular (Potential).|Fibronectin type-III 3.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.1583C>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	35	5.585820	0.96578	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39;0.39	5.88	5.88	0.94601	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.75671	0.3881	M	0.81682	2.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70016	0.967;0.943	T	0.77515	-0.2559	10	0.87932	D	0	.	20.2413	0.98377	0.0:0.0:1.0:0.0	.	528;528	O14522-1;O14522	.;PTPRT_HUMAN	L	528	ENSP00000362286:S528L;ENSP00000362283:S528L;ENSP00000362289:S528L;ENSP00000348408:S528L;ENSP00000362294:S528L;ENSP00000362280:S528L;ENSP00000362297:S528L	ENSP00000348408:S528L	S	-	2	0	PTPRT	40414317	1.000000	0.71417	0.967000	0.41034	0.960000	0.62799	9.869000	0.99810	2.777000	0.95525	0.551000	0.68910	TCG		0.532	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			10	48	0	0	0	0	10	48				
PTPRT	11122	broad.mit.edu	37	20	40980908	40980908	+	Silent	SNP	G	G	T	rs9941770		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr20:40980908G>T	ENST00000373187.1	-	10	1577	c.1578C>A	c.(1576-1578)gtC>gtA	p.V526V	PTPRT_ENST00000373184.1_Silent_p.V526V|PTPRT_ENST00000373198.4_Silent_p.V526V|PTPRT_ENST00000356100.2_Silent_p.V526V|PTPRT_ENST00000373201.1_Silent_p.V526V|PTPRT_ENST00000373193.3_Silent_p.V526V|PTPRT_ENST00000373190.1_Silent_p.V526V			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	526	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCAGCGAGCCGACAGCCTTGT	0.522																																						uc002xkg.2		NA																	0				skin(8)|ovary(7)|lung(5)	20						c.(1576-1578)GTC>GTA		protein tyrosine phosphatase, receptor type, T							59.0	65.0	63.0					20																	40980908		1965	4148	6113	SO:0001819	synonymous_variant	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40980908G>T	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1578C>A	20.37:g.40980908G>T						PTPRT_uc010ggj.2_Silent_p.V526V	p.V526V	NM_007050	NP_008981	O14522	PTPRT_HUMAN			10	1762	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	526			Extracellular (Potential).|Fibronectin type-III 3.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	ENST00000373187.1	37	c.1578C>A	CCDS42874.1																																																																																				0.522	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			10	48	1	0	1.05e-09	1.12e-09	10	48				
SYCP2	10388	broad.mit.edu	37	20	58441392	58441392	+	Missense_Mutation	SNP	C	C	G	rs377589640		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr20:58441392C>G	ENST00000357552.3	-	41	4501	c.4276G>C	c.(4276-4278)Gaa>Caa	p.E1426Q	SYCP2_ENST00000371001.2_Missense_Mutation_p.E1426Q			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1426					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)	p.E1426K(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GAATCTTTTTCAAAATTCTCC	0.234																																						uc002yaz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)	5						c.(4276-4278)GAA>CAA		synaptonemal complex protein 2		C	GLN/GLU	0,4240		0,0,2120	30.0	35.0	33.0		4276	5.5	1.0	20		33	1,8437		0,1,4218	no	missense	SYCP2	NM_014258.2	29	0,1,6338	GG,GC,CC		0.0119,0.0,0.0079	probably-damaging	1426/1531	58441392	1,12677	2120	4219	6339	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58441392C>G	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.4276G>C	20.37:g.58441392C>G	ENSP00000350162:p.Glu1426Gln						p.E1426Q	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		40	4415	-	all_lung(29;0.00344)		1426					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.4276G>C	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.706051	0.68615	0.0	1.19E-4	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000412613	T;T	0.34472	1.36;1.36	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000002	T	0.49949	0.1587	M	0.66939	2.045	0.39354	D	0.965808	P	0.50272	0.933	P	0.52454	0.699	T	0.54410	-0.8298	10	0.72032	D	0.01	-17.1811	14.3627	0.66785	0.0:0.8522:0.1478:0.0	.	1426	Q9BX26	SYCP2_HUMAN	Q	1426;1426;112	ENSP00000360040:E1426Q;ENSP00000350162:E1426Q	ENSP00000350162:E1426Q	E	-	1	0	SYCP2	57874787	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	3.360000	0.52299	2.735000	0.93741	0.557000	0.71058	GAA		0.234	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		14	60	0	0	0	0	14	60				
CDH26	60437	broad.mit.edu	37	20	58547156	58547156	+	Missense_Mutation	SNP	G	G	T	rs530252960		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr20:58547156G>T	ENST00000244047.5	+	4	682	c.371G>T	c.(370-372)cGa>cTa	p.R124L	CDH26_ENST00000348616.4_Missense_Mutation_p.R124L			Q8IXH8	CAD26_HUMAN	cadherin 26	124	Cadherin 1. {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)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CCTGTCGATCGAGAAATGACA	0.383																																						uc002ybe.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(370-372)CGA>CTA		cadherin-like 26 isoform a							125.0	113.0	117.0					20																	58547156		2203	4300	6503	SO:0001583	missense	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58547156G>T	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.371G>T	20.37:g.58547156G>T	ENSP00000244047:p.Arg124Leu					CDH26_uc010zzy.1_RNA	p.R124L	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		4	671	+	all_lung(29;0.00963)		124			Extracellular (Potential).|Cadherin 1.		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37	c.371G>T		.	.	.	.	.	.	.	.	.	.	G	15.65	2.895727	0.52121	.	.	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.64618	-0.11;-0.11	5.13	5.13	0.70059	.	0.130265	0.50627	D	0.000112	D	0.85583	0.5730	H	0.95294	3.65	0.48830	D	0.999717	D	0.89917	1.0	D	0.87578	0.998	D	0.89939	0.4071	10	0.87932	D	0	.	17.7147	0.88332	0.0:0.0:1.0:0.0	.	124	Q8IXH8-4	.	L	124	ENSP00000244047:R124L;ENSP00000339390:R124L	ENSP00000244047:R124L	R	+	2	0	CDH26	57980551	0.982000	0.34865	0.031000	0.17742	0.022000	0.10575	2.131000	0.42074	2.546000	0.85860	0.650000	0.86243	CGA		0.383	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		15	49	1	0	3.53e-06	3.72e-06	15	49				
DIDO1	11083	broad.mit.edu	37	20	61511034	61511034	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr20:61511034C>G	ENST00000266070.4	-	16	6599	c.6274G>C	c.(6274-6276)Gac>Cac	p.D2092H	DIDO1_ENST00000395343.1_Missense_Mutation_p.D2092H	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2092					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGCCCCACGTCAAACCGCTCT	0.672																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1		NA																	0				ovary(3)|skin(3)	6						c.(6274-6276)GAC>CAC		death inducer-obliterator 1 isoform c							98.0	113.0	108.0					20																	61511034		2187	4259	6446	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61511034C>G	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.6274G>C	20.37:g.61511034C>G	ENSP00000266070:p.Asp2092His					DIDO1_uc002yds.1_Missense_Mutation_p.D2092H	p.D2092H	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			16	6538	-	Breast(26;5.68e-08)		2092					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.6274G>C	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.327781	0.24080	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.08008	3.14;3.14	4.78	3.82	0.43975	.	0.173195	0.26840	U	0.022226	T	0.04182	0.0116	N	0.08118	0	0.80722	D	1	P	0.35982	0.531	B	0.24394	0.053	T	0.50841	-0.8780	10	0.39692	T	0.17	-2.7848	14.1863	0.65607	0.1511:0.8489:0.0:0.0	.	2092	Q9BTC0	DIDO1_HUMAN	H	2092	ENSP00000266070:D2092H;ENSP00000378752:D2092H	ENSP00000266070:D2092H	D	-	1	0	DIDO1	60981479	1.000000	0.71417	0.008000	0.14137	0.002000	0.02628	5.585000	0.67497	0.970000	0.38263	0.591000	0.81541	GAC		0.672	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		42	270	0	0	0	0	42	270				
ARFRP1	10139	broad.mit.edu	37	20	62338354	62338354	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr20:62338354C>G	ENST00000359715.5	-	1	656	c.90G>C	c.(88-90)aaG>aaC	p.K30N	RP4-583P15.15_ENST00000490623.2_5'Flank|ZGPAT_ENST00000357119.4_5'Flank|ARFRP1_ENST00000324228.2_Missense_Mutation_p.K30N|ZGPAT_ENST00000328969.5_5'Flank|ZGPAT_ENST00000355969.6_5'Flank|ARFRP1_ENST00000609142.1_Missense_Mutation_p.K30N|ZGPAT_ENST00000369967.3_5'Flank|ZGPAT_ENST00000448100.2_5'Flank|ARFRP1_ENST00000607873.1_Intron|ARFRP1_ENST00000440854.1_Missense_Mutation_p.K30N			Q13795	ARFRP_HUMAN	ADP-ribosylation factor related protein 1	30					gastrulation (GO:0007369)|Golgi to plasma membrane protein transport (GO:0043001)|GTP catabolic process (GO:0006184)|protein localization to Golgi apparatus (GO:0034067)|retrograde transport, endosome to Golgi (GO:0042147)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)			CACTCACCGTCTTCCCAGCAT	0.607																																						uc002yga.2		NA																	0				breast(1)|skin(1)	2						c.(88-90)AAG>AAC		ADP-ribosylation factor related protein 1							188.0	124.0	146.0					20																	62338354		2202	4299	6501	SO:0001583	missense	10139				small GTPase mediated signal transduction	Golgi apparatus|membrane fraction	GTP binding|GTPase activity	g.chr20:62338354C>G	X91504	CCDS13533.1, CCDS46630.1, CCDS68172.1, CCDS68173.1	20q13.3	2014-05-09			ENSG00000101246	ENSG00000101246		"""ADP-ribosylation factors"""	662	protein-coding gene	gene with protein product		604699				8530503	Standard	NM_003224		Approved	ARP, Arp1, ARL18	uc031rup.1	Q13795	OTTHUMG00000032993	ENST00000359715.5:c.90G>C	20.37:g.62338354C>G	ENSP00000352746:p.Lys30Asn					ARFRP1_uc002ygc.2_Missense_Mutation_p.K30N|ARFRP1_uc002ygh.3_Missense_Mutation_p.K30N|ARFRP1_uc011abf.1_Missense_Mutation_p.K30N|ARFRP1_uc011abg.1_Missense_Mutation_p.K30N|ARFRP1_uc002yge.2_RNA|ARFRP1_uc002ygd.2_RNA|ARFRP1_uc002ygf.2_Missense_Mutation_p.K30N|ARFRP1_uc002ygg.2_RNA|ARFRP1_uc011abh.1_RNA|ZGPAT_uc002ygi.2_5'Flank|ZGPAT_uc002ygj.2_5'Flank|ZGPAT_uc002ygk.2_5'Flank|ZGPAT_uc010gkk.1_5'Flank|ZGPAT_uc010gkl.1_5'Flank|ZGPAT_uc002ygm.2_5'Flank|ZGPAT_uc002ygn.3_5'Flank	p.K30N	NM_003224	NP_003215	Q13795	ARFRP_HUMAN	Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)		1	657	-	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		30			GTP (By similarity).		B7ZKX7|E1P5J9|Q6IBQ0	Missense_Mutation	SNP	ENST00000359715.5	37	c.90G>C	CCDS13533.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.316397	0.81469	.	.	ENSG00000101246	ENST00000440854;ENST00000359715;ENST00000324228;ENST00000303260	D;D;D	0.97161	-4.27;-4.27;-4.27	4.79	4.79	0.61399	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.99058	0.9677	H	0.99726	4.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.98325	1.0530	10	0.87932	D	0	-15.5003	7.0216	0.24916	0.0:0.8018:0.0:0.1982	.	30;30	B3KTR4;Q13795	.;ARFRP_HUMAN	N	30;30;30;19	ENSP00000403942:K30N;ENSP00000352746:K30N;ENSP00000326884:K30N	ENSP00000304287:K19N	K	-	3	2	ARFRP1	61808798	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	1.614000	0.36911	2.205000	0.71048	0.491000	0.48974	AAG		0.607	ARFRP1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472024.1			7	22	0	0	0	0	7	22				
ZBTB46	140685	broad.mit.edu	37	20	62421736	62421736	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr20:62421736G>C	ENST00000245663.4	-	2	525	c.375C>G	c.(373-375)atC>atG	p.I125M	ZBTB46_ENST00000395104.1_Missense_Mutation_p.I125M|ZBTB46_ENST00000480766.1_5'Flank|ZBTB46_ENST00000302995.2_Missense_Mutation_p.I125M	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	125					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GCGCCGCCTTGATGAAGTCGT	0.612																																						uc002ygv.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(373-375)ATC>ATG		zinc finger and BTB domain containing 46							39.0	34.0	35.0					20																	62421736		2202	4300	6502	SO:0001583	missense	140685				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr20:62421736G>C	AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16094	protein-coding gene	gene with protein product	"""BTB-ZF protein expressed in effector lymphocytes"""	614639	"""BTB (POZ) domain containing 4"""	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.375C>G	20.37:g.62421736G>C	ENSP00000245663:p.Ile125Met					ZBTB46_uc002ygu.2_RNA	p.I125M	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN			2	576	-	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)		125					E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Missense_Mutation	SNP	ENST00000245663.4	37	c.375C>G	CCDS13538.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927382	0.52759	.	.	ENSG00000130584	ENST00000245663;ENST00000302995;ENST00000395104	T;T;T	0.72051	-0.62;-0.62;-0.62	5.65	4.64	0.57946	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.74974	0.3787	L	0.32530	0.975	0.45777	D	0.998663	D	0.89917	1.0	D	0.97110	1.0	T	0.68693	-0.5341	10	0.18276	T	0.48	.	15.576	0.76387	0.0:0.0:0.8346:0.1654	.	125	Q86UZ6	ZBT46_HUMAN	M	125	ENSP00000245663:I125M;ENSP00000303102:I125M;ENSP00000378536:I125M	ENSP00000245663:I125M	I	-	3	3	ZBTB46	61892180	1.000000	0.71417	1.000000	0.80357	0.467000	0.32768	2.873000	0.48475	2.679000	0.91253	0.655000	0.94253	ATC		0.612	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224		5	22	0	0	0	0	5	22				
TPTE	7179	broad.mit.edu	37	21	10951399	10951400	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr21:10951399_10951400CC>TT	ENST00000361285.4	-	10	641_642	c.312_313GG>AA	c.(310-315)ctGGat>ctAAat	p.D105N	TPTE_ENST00000298232.7_Missense_Mutation_p.D87N|TPTE_ENST00000342420.5_Missense_Mutation_p.D67N|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	105					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGAGTGACATCCAGTAAGACCA	0.327																																						uc002yip.1		NA																	0				ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(310-315)CTGGAT>CTAAAT		transmembrane phosphatase with tensin homology																																				SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10951399_10951400CC>TT	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.312_313delinsTT	21.37:g.10951399_10951400delinsTT	ENSP00000355208:p.Asp105Asn					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.D87N|TPTE_uc002yir.1_Missense_Mutation_p.D67N|TPTE_uc010gkv.1_5'UTR	p.D105N	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	10	680_681	-			105			Helical; (Potential).		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	DNP	ENST00000361285.4	37	c.312_313GG>AA	CCDS13560.2																																																																																				0.327	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			18	113	0	0	0	0	18	113				
KRTAP22-1	337979	broad.mit.edu	37	21	31973557	31973557	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr21:31973557G>A	ENST00000334680.2	+	1	144	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	KRTAP6-2_ENST00000334897.3_5'Flank	NM_181620.1	NP_853651.1	Q3MIV0	KR221_HUMAN	keratin associated protein 22-1	40						intermediate filament (GO:0005882)				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	8						ATGGTGTTATGAAAGATCTTG	0.483																																						uc011add.1		NA																	0					0						c.(118-120)GAA>AAA		keratin associated protein 22-1							229.0	207.0	214.0					21																	31973557		2203	4300	6503	SO:0001583	missense	337979					intermediate filament		g.chr21:31973557G>A	AP001708	CCDS13601.1	21q22.1	2011-02-10			ENSG00000186924	ENSG00000186924		"""Keratin associated proteins"""	18947	protein-coding gene	gene with protein product						12359730	Standard	NM_181620		Approved	KAP22.1	uc011add.2	Q3MIV0	OTTHUMG00000057778	ENST00000334680.2:c.118G>A	21.37:g.31973557G>A	ENSP00000333887:p.Glu40Lys					KRTAP6-2_uc011adc.1_5'Flank	p.E40K	NM_181620	NP_853651	Q3MIV0	KR221_HUMAN			1	118	+			40						Missense_Mutation	SNP	ENST00000334680.2	37	c.118G>A	CCDS13601.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.373614	0.24857	.	.	ENSG00000186924	ENST00000334680	T	0.35973	1.28	4.97	3.12	0.35913	.	0.161766	0.28371	N	0.015581	T	0.25419	0.0618	.	.	.	0.09310	N	1	B	0.29432	0.244	B	0.26770	0.073	T	0.21586	-1.0241	9	0.87932	D	0	.	6.755	0.23507	0.0949:0.179:0.7261:0.0	.	40	Q3MIV0	KR221_HUMAN	K	40	ENSP00000333887:E40K	ENSP00000333887:E40K	E	+	1	0	KRTAP22-1	30895428	0.009000	0.17119	0.001000	0.08648	0.003000	0.03518	0.906000	0.28517	0.777000	0.33496	0.655000	0.94253	GAA		0.483	KRTAP22-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128230.2			37	155	0	0	0	0	37	155				
SIM2	6493	broad.mit.edu	37	21	38072060	38072060	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr21:38072060C>G	ENST00000290399.6	+	1	627	c.14C>G	c.(13-15)tCc>tGc	p.S5C	SIM2_ENST00000460783.1_3'UTR|SIM2_ENST00000430056.3_Missense_Mutation_p.S5C|AP000697.6_ENST00000430607.1_RNA	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	5	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				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						AAGGAGAAGTCCAAGAATGCG	0.662																																						uc002yvr.2		NA																	0				central_nervous_system(1)	1						c.(13-15)TCC>TGC		single-minded homolog 2 long isoform							115.0	92.0	99.0					21																	38072060		2202	4300	6502	SO:0001583	missense	6493				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:38072060C>G		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.14C>G	21.37:g.38072060C>G	ENSP00000290399:p.Ser5Cys					SIM2_uc002yvp.2_Missense_Mutation_p.S5C|SIM2_uc002yvq.2_Missense_Mutation_p.S5C	p.S5C	NM_005069	NP_005060	Q14190	SIM2_HUMAN			1	70	+			5			Basic motif.		O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Missense_Mutation	SNP	ENST00000290399.6	37	c.14C>G	CCDS13646.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944244	0.73672	.	.	ENSG00000159263	ENST00000290399;ENST00000430056	T;T	0.11169	2.83;2.8	4.41	4.41	0.53225	Helix-loop-helix DNA-binding (2);	0.119505	0.64402	D	0.000019	T	0.34774	0.0909	M	0.92367	3.3	0.47994	D	0.999568	P;B	0.40909	0.732;0.397	P;B	0.49853	0.624;0.238	T	0.46624	-0.9178	10	0.56958	D	0.05	.	17.2006	0.86904	0.0:1.0:0.0:0.0	.	5;5	Q14190;Q14190-2	SIM2_HUMAN;.	C	5	ENSP00000290399:S5C;ENSP00000404176:S5C	ENSP00000290399:S5C	S	+	2	0	SIM2	36993930	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.725000	0.54970	2.288000	0.76882	0.563000	0.77884	TCC		0.662	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194692.1	NM_009586		3	15	0	0	0	0	3	15				
AGPAT3	56894	broad.mit.edu	37	21	45387862	45387862	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr21:45387862G>A	ENST00000398063.2	+	3	706	c.214G>A	c.(214-216)Gag>Aag	p.E72K	AGPAT3_ENST00000291572.8_Missense_Mutation_p.E72K|AGPAT3_ENST00000546158.1_Missense_Mutation_p.E72K|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398058.1_Missense_Mutation_p.E72K|AGPAT3_ENST00000398061.1_Missense_Mutation_p.E72K|AGPAT3_ENST00000327505.2_Missense_Mutation_p.E72K	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	72					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		GTCCTGCACGGAGTGTACACT	0.612																																					Pancreas(60;623 1650 5574 52796)	uc002zdv.2		NA																	0					0						c.(214-216)GAG>AAG		1-acylglycerol-3-phosphate O-acyltransferase 3							147.0	105.0	119.0					21																	45387862		2203	4300	6503	SO:0001583	missense	56894				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr21:45387862G>A	AF156774	CCDS13703.1	21q22.3	2013-02-05			ENSG00000160216	ENSG00000160216	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	326	protein-coding gene	gene with protein product		614794					Standard	XM_005261159		Approved	LPAAT-gamma	uc002zdw.3	Q9NRZ7	OTTHUMG00000086892	ENST00000398063.2:c.214G>A	21.37:g.45387862G>A	ENSP00000381140:p.Glu72Lys					AGPAT3_uc002zdw.2_Missense_Mutation_p.E72K|AGPAT3_uc002zdx.2_Missense_Mutation_p.E159K|AGPAT3_uc002zdy.2_Missense_Mutation_p.E10K	p.E72K	NM_020132	NP_064517	Q9NRZ7	PLCC_HUMAN		STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)	4	436	+			72			Cytoplasmic (Potential).		D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6	Missense_Mutation	SNP	ENST00000398063.2	37	c.214G>A	CCDS13703.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.536372	0.27475	.	.	ENSG00000160216	ENST00000291572;ENST00000448287;ENST00000398061;ENST00000327505;ENST00000445582;ENST00000398063;ENST00000438598;ENST00000398058;ENST00000457068;ENST00000422850;ENST00000546158	D;D;D;D;D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18	4.63	3.73	0.42828	.	0.290535	0.36778	N	0.002408	D	0.86485	0.5944	N	0.17564	0.495	0.50171	D	0.999854	P;B	0.35383	0.498;0.003	B;B	0.40636	0.335;0.01	T	0.81697	-0.0815	10	0.02654	T	1	-15.0295	13.2677	0.60144	0.0:0.3046:0.6954:0.0	.	92;72	Q9NRZ7-3;Q9NRZ7	.;PLCC_HUMAN	K	72	ENSP00000291572:E72K;ENSP00000381138:E72K;ENSP00000332989:E72K;ENSP00000381140:E72K;ENSP00000381135:E72K;ENSP00000413906:E72K;ENSP00000414440:E72K;ENSP00000443510:E72K	ENSP00000291572:E72K	E	+	1	0	AGPAT3	44212290	1.000000	0.71417	0.863000	0.33907	0.431000	0.31685	4.996000	0.63914	0.915000	0.36847	0.591000	0.81541	GAG		0.612	AGPAT3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195722.1	NM_020132		11	22	0	0	0	0	11	22				
CABIN1	23523	broad.mit.edu	37	22	24563212	24563212	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr22:24563212G>A	ENST00000398319.2	+	32	5998	c.5613G>A	c.(5611-5613)caG>caA	p.Q1871Q	CABIN1_ENST00000263119.5_Silent_p.Q1871Q|CABIN1_ENST00000337989.7_Silent_p.Q296Q|CABIN1_ENST00000485008.1_3'UTR|CABIN1_ENST00000405822.2_Silent_p.Q1792Q	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1871					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGCAGGGCCAGAAGGGTGTGG	0.617																																						uc002zzi.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(5611-5613)CAG>CAA		calcineurin binding protein 1							56.0	55.0	55.0					22																	24563212		2202	4300	6502	SO:0001819	synonymous_variant	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24563212G>A	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.5613G>A	22.37:g.24563212G>A						CABIN1_uc002zzj.1_Silent_p.Q1792Q|CABIN1_uc002zzl.1_Silent_p.Q1871Q|CABIN1_uc002zzm.1_Silent_p.Q296Q	p.Q1871Q	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN			32	5740	+			1871					G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	37	c.5613G>A	CCDS13823.1																																																																																				0.617	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		3	43	0	0	0	0	3	43				
BPIFC	254240	broad.mit.edu	37	22	32831730	32831730	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr22:32831730G>A	ENST00000397452.1	-	9	995	c.885C>T	c.(883-885)ttC>ttT	p.F295F	BPIFC_ENST00000432451.2_Silent_p.F109F|BPIFC_ENST00000300399.3_Silent_p.F295F|BPIFC_ENST00000534972.1_Silent_p.F19F			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	295						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										CCCCAGCTGTGAAATGAGCAA	0.458																																						uc003amn.2		NA																	0				ovary(1)|skin(1)	2						c.(883-885)TTC>TTT		bactericidal/permeability-increasing							73.0	74.0	74.0					22																	32831730		2203	4300	6503	SO:0001819	synonymous_variant	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32831730G>A	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.885C>T	22.37:g.32831730G>A						BPIL2_uc010gwo.2_Silent_p.F109F|BPIL2_uc011amb.1_Silent_p.F19F	p.F295F	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN			8	885	-			295					A2RRF1	Silent	SNP	ENST00000397452.1	37	c.885C>T	CCDS13906.1																																																																																				0.458	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932		17	19	0	0	0	0	17	19				
NOL12	79159	broad.mit.edu	37	22	38084953	38084953	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr22:38084953A>G	ENST00000359114.4	+	4	405	c.335A>G	c.(334-336)gAc>gGc	p.D112G	NOL12_ENST00000493862.1_3'UTR	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	112						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					ACCATCAGTGACCTGGACCTC	0.647																																						uc003atp.2		NA																	0					0						c.(334-336)GAC>GGC		nucleolar protein 12							155.0	144.0	147.0					22																	38084953		2203	4300	6503	SO:0001583	missense	79159					nucleolus	rRNA binding	g.chr22:38084953A>G	Z83844	CCDS13955.1	22q13.1	2012-05-02			ENSG00000256872	ENSG00000273899			28585	protein-coding gene	gene with protein product						12477932	Standard	NM_024313		Approved	MGC3731, Nop25, RRP17	uc003atp.3	Q9UGY1	OTTHUMG00000150660	ENST00000359114.4:c.335A>G	22.37:g.38084953A>G	ENSP00000352021:p.Asp112Gly					NOL12_uc011anm.1_Missense_Mutation_p.D112G|NOL12_uc003ato.1_RNA|TRIOBP_uc003atq.1_5'UTR	p.D112G	NM_024313	NP_077289	Q9UGY1	NOL12_HUMAN			4	391	+	Melanoma(58;0.0574)		112						Missense_Mutation	SNP	ENST00000359114.4	37	c.335A>G	CCDS13955.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.640672	0.87859	.	.	ENSG00000256872	ENST00000359114	D	0.82619	-1.63	5.76	4.73	0.59995	.	0.084320	0.85682	D	0.000000	D	0.83362	0.5238	M	0.73217	2.22	0.54753	D	0.999989	P	0.46859	0.885	P	0.45753	0.492	D	0.83665	0.0163	10	0.72032	D	0.01	-2.9719	10.443	0.44477	0.9264:0.0:0.0736:0.0	.	112	Q9UGY1	NOL12_HUMAN	G	112	ENSP00000352021:D112G	ENSP00000352021:D112G	D	+	2	0	Z83844.2	36414899	1.000000	0.71417	0.977000	0.42913	0.987000	0.75469	8.542000	0.90647	1.023000	0.39654	0.533000	0.62120	GAC		0.647	NOL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319476.1	NM_024313		32	109	0	0	0	0	32	109				
MKL1	57591	broad.mit.edu	37	22	40816946	40816946	+	Silent	SNP	G	G	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr22:40816946G>T	ENST00000355630.3	-	10	1376	c.786C>A	c.(784-786)atC>atA	p.I262I	MKL1_ENST00000396617.3_Silent_p.I262I|MKL1_ENST00000402042.1_Silent_p.I212I|MKL1_ENST00000407029.1_Silent_p.I262I	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	262					negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GCTGCTGCAGGATCTTGGCGT	0.602			T	RBM15	acute megakaryocytic leukemia																																	uc003ayv.1		NA		Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(784-786)ATC>ATA		megakaryoblastic leukemia 1 protein							83.0	77.0	79.0					22																	40816946		2203	4300	6503	SO:0001819	synonymous_variant	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40816946G>T	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.786C>A	22.37:g.40816946G>T						MKL1_uc003ayw.1_Silent_p.I262I|MKL1_uc010gye.1_Silent_p.I262I|MKL1_uc010gyf.1_Silent_p.I212I	p.I262I	NM_020831	NP_065882	Q969V6	MKL1_HUMAN			7	993	-			262					Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Silent	SNP	ENST00000355630.3	37	c.786C>A	CCDS14003.1																																																																																				0.602	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		34	15	1	0	1.27e-14	1.37e-14	34	15				
MKL1	57591	broad.mit.edu	37	22	40816975	40816975	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr22:40816975G>A	ENST00000355630.3	-	10	1347	c.757C>T	c.(757-759)Ccc>Tcc	p.P253S	MKL1_ENST00000396617.3_Missense_Mutation_p.P253S|MKL1_ENST00000402042.1_Missense_Mutation_p.P203S|MKL1_ENST00000407029.1_Missense_Mutation_p.P253S	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	253	Mediates interaction with SCAI and ACTB. {ECO:0000250}.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						TCCATGGGGGGTGCCCCCCTG	0.592			T	RBM15	acute megakaryocytic leukemia																																	uc003ayv.1		NA		Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(757-759)CCC>TCC		megakaryoblastic leukemia 1 protein							95.0	86.0	89.0					22																	40816975		2203	4300	6503	SO:0001583	missense	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40816975G>A	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.757C>T	22.37:g.40816975G>A	ENSP00000347847:p.Pro253Ser					MKL1_uc003ayw.1_Missense_Mutation_p.P253S|MKL1_uc010gye.1_Missense_Mutation_p.P253S|MKL1_uc010gyf.1_Missense_Mutation_p.P203S	p.P253S	NM_020831	NP_065882	Q969V6	MKL1_HUMAN			7	964	-			253			Mediates interaction with SCAI and ACTB (By similarity).		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.757C>T	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770010	0.69992	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029	T;T;T;T	0.54479	0.6;0.57;0.57;0.6	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	0.991;1.0;1.0	P;D;D	0.83275	0.79;0.996;0.996	T	0.76386	-0.2978	10	0.62326	D	0.03	-24.9442	18.8656	0.92290	0.0:0.0:1.0:0.0	.	203;253;253	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	S	253;253;203;253	ENSP00000347847:P253S;ENSP00000379861:P253S;ENSP00000385584:P203S;ENSP00000385835:P253S	ENSP00000347847:P253S	P	-	1	0	MKL1	39146921	1.000000	0.71417	0.559000	0.28332	0.664000	0.39144	6.310000	0.72830	2.464000	0.83262	0.462000	0.41574	CCC		0.592	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		32	25	0	0	0	0	32	25				
EP300	2033	broad.mit.edu	37	22	41573260	41573260	+	Missense_Mutation	SNP	T	T	C	rs199544223		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr22:41573260T>C	ENST00000263253.7	+	31	6764	c.5545T>C	c.(5545-5547)Tcc>Ccc	p.S1849P	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1849					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGGCCTCCCTTCCCCCACTCC	0.637			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3		NA		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		0				haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(5545-5547)TCC>CCC		E1A binding protein p300							73.0	76.0	75.0					22																	41573260		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41573260T>C	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.5545T>C	22.37:g.41573260T>C	ENSP00000263253:p.Ser1849Pro						p.S1849P	NM_001429	NP_001420	Q09472	EP300_HUMAN			31	5940	+			1849					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.5545T>C	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	T	10.05	1.244394	0.22796	.	.	ENSG00000100393	ENST00000263253	D	0.85258	-1.96	5.47	5.47	0.80525	.	0.000000	0.41396	D	0.000889	D	0.90758	0.7099	M	0.63843	1.955	0.41988	D	0.990837	D	0.65815	0.995	D	0.72982	0.979	D	0.90988	0.4833	10	0.48119	T	0.1	-8.979	15.5499	0.76141	0.0:0.0:0.0:1.0	.	1849	Q09472	EP300_HUMAN	P	1849	ENSP00000263253:S1849P	ENSP00000263253:S1849P	S	+	1	0	EP300	39903206	1.000000	0.71417	0.996000	0.52242	0.033000	0.12548	5.907000	0.69908	2.080000	0.62538	0.459000	0.35465	TCC		0.637	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		3	53	0	0	0	0	3	53				
SBF1	6305	broad.mit.edu	37	22	50904631	50904631	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr22:50904631G>A	ENST00000390679.3	-	8	1029	c.845C>T	c.(844-846)aCg>aTg	p.T282M	SBF1_ENST00000348911.6_Missense_Mutation_p.T283M|SBF1_ENST00000380817.3_Missense_Mutation_p.T282M			O95248	MTMR5_HUMAN	SET binding factor 1	282	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GATGAAGGGCGTGGGTGTGCT	0.652																																						uc003blh.2		NA																	0					0						c.(844-846)ACG>ATG		SET binding factor 1							45.0	54.0	51.0					22																	50904631		2111	4227	6338	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50904631G>A	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.845C>T	22.37:g.50904631G>A	ENSP00000375097:p.Thr282Met					SBF1_uc011arx.1_Translation_Start_Site|SBF1_uc003bli.2_Missense_Mutation_p.T283M	p.T282M	NM_002972	NP_002963	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	8	1040	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	282			DENN.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.845C>T		.	.	.	.	.	.	.	.	.	.	G	17.52	3.409383	0.62399	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	T;T;T	0.12147	2.71;2.71;2.71	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.36991	0.0987	M	0.67700	2.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.16070	-1.0415	10	0.66056	D	0.02	.	17.1961	0.86893	0.0:0.0:1.0:0.0	.	283;282	G5E933;O95248-4	.;.	M	282;283;293;292;282	ENSP00000370196:T282M;ENSP00000252027:T283M;ENSP00000375097:T282M	ENSP00000336522:T292M	T	-	2	0	SBF1	49251497	1.000000	0.71417	0.940000	0.37924	0.103000	0.19146	5.150000	0.64869	2.403000	0.81681	0.462000	0.41574	ACG		0.652	SBF1-201	KNOWN	basic	protein_coding	protein_coding				20	42	0	0	0	0	20	42				
CNTN4	152330	broad.mit.edu	37	3	3067795	3067795	+	Missense_Mutation	SNP	G	G	A	rs529119609		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:3067795G>A	ENST00000397461.1	+	14	1880	c.1496G>A	c.(1495-1497)aGg>aAg	p.R499K	CNTN4_ENST00000358480.3_Missense_Mutation_p.R280K|CNTN4_ENST00000427331.1_Missense_Mutation_p.R499K|CNTN4_ENST00000397459.2_Missense_Mutation_p.R171K|CNTN4_ENST00000418658.1_Missense_Mutation_p.R499K|CNTN4_ENST00000448906.2_Missense_Mutation_p.R171K	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	499	Ig-like C2-type 6.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GATCCAACAAGGGTAATGGTA	0.418													G|||	1	0.000199681	0.0	0.0	5008	,	,		19236	0.0		0.0	False		,,,				2504	0.001					uc003bpc.2		NA																	0				large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7						c.(1495-1497)AGG>AAG		contactin 4 isoform a precursor							131.0	113.0	119.0					3																	3067795		2203	4300	6503	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:3067795G>A	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1496G>A	3.37:g.3067795G>A	ENSP00000380602:p.Arg499Lys					CNTN4_uc003bpb.1_Missense_Mutation_p.R171K|CNTN4_uc003bpd.1_Missense_Mutation_p.R499K|CNTN4_uc003bpe.2_Missense_Mutation_p.R171K|CNTN4_uc003bpf.2_Missense_Mutation_p.R171K	p.R499K	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	14	1717	+		Ovarian(110;0.156)	499			Ig-like C2-type 6.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.1496G>A	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	G	9.167	1.020157	0.19433	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69;1.69	4.99	1.14	0.20703	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.913325	0.09417	N	0.805052	T	0.20618	0.0496	L	0.44542	1.39	0.09310	N	1	B;B;B	0.14012	0.001;0.0;0.009	B;B;B	0.21151	0.007;0.003;0.033	T	0.36866	-0.9730	10	0.20046	T	0.44	.	8.0339	0.30480	0.4:0.0:0.6:0.0	.	499;499;499	Q8IWV2-3;B3KTK4;Q8IWV2	.;.;CNTN4_HUMAN	K	499;499;499;280;171;171	ENSP00000396010:R499K;ENSP00000380602:R499K;ENSP00000413642:R499K;ENSP00000351267:R280K;ENSP00000380600:R171K;ENSP00000392077:R171K	ENSP00000351267:R280K	R	+	2	0	CNTN4	3042795	0.002000	0.14202	0.962000	0.40283	0.890000	0.51754	1.228000	0.32588	-0.079000	0.12707	0.561000	0.74099	AGG		0.418	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			5	11	0	0	0	0	5	11				
CRELD1	78987	broad.mit.edu	37	3	9979744	9979744	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:9979744C>T	ENST00000383811.3	+	4	1013	c.414C>T	c.(412-414)tcC>tcT	p.S138S	CRELD1_ENST00000397170.3_Silent_p.S138S|CRELD1_ENST00000452070.1_Silent_p.S138S|CRELD1_ENST00000326434.5_Silent_p.S138S|RP11-1020A11.1_ENST00000602411.1_RNA	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	138					cardiac septum development (GO:0003279)|endocardial cushion development (GO:0003197)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						GCTCAGATTCCCTGAAGCTCT	0.632																																						uc003bug.2		NA																	0				ovary(1)	1						c.(412-414)TCC>TCT		cysteine-rich with EGF-like domains 1 isoform 3							41.0	43.0	42.0					3																	9979744		2203	4300	6503	SO:0001819	synonymous_variant	78987				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding	g.chr3:9979744C>T	AF452623	CCDS2593.1, CCDS33693.1	3p25.3	2005-12-08	2004-02-13		ENSG00000163703	ENSG00000163703			14630	protein-coding gene	gene with protein product		607170	"""atrioventricular septal defect 2"""	AVSD2		10922384, 12137942	Standard	NM_015513		Approved		uc003buf.3	Q96HD1	OTTHUMG00000128653	ENST00000383811.3:c.414C>T	3.37:g.9979744C>T						CIDEC_uc003bto.2_Intron|CRELD1_uc003buf.2_Silent_p.S138S|CRELD1_uc003buh.2_Silent_p.S138S|CRELD1_uc003bui.2_Silent_p.S138S|CRELD1_uc003buj.2_RNA	p.S138S	NM_001077415	NP_001070883	Q96HD1	CREL1_HUMAN			5	532	+			138			Extracellular (Potential).		A8MX90|B2RAA9|Q6I9X5|Q8NFT4|Q9Y409	Silent	SNP	ENST00000383811.3	37	c.414C>T	CCDS2593.1																																																																																				0.632	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250533.1	NM_015513		19	5	0	0	0	0	19	5				
BTD	686	broad.mit.edu	37	3	15677117	15677117	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:15677117C>T	ENST00000303498.5	+	2	340	c.231C>T	c.(229-231)atC>atT	p.I77I	BTD_ENST00000449107.1_Silent_p.I79I|BTD_ENST00000482824.1_3'UTR|BTD_ENST00000383778.4_Silent_p.I57I|BTD_ENST00000437172.1_Silent_p.I79I	NM_000060.2|NM_001281723.1	NP_000051.1|NP_001268652.1	P43251	BTD_HUMAN	biotinidase	77	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				biotin metabolic process (GO:0006768)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	biotin carboxylase activity (GO:0004075)|biotinidase activity (GO:0047708)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						TGGCTCTCATCAGCCGCCAAG	0.542																																						uc003cah.2		NA																	0					0						c.(229-231)ATC>ATT		biotinidase precursor							135.0	126.0	129.0					3																	15677117		2203	4300	6503	SO:0001819	synonymous_variant	686				central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity	g.chr3:15677117C>T	AF018631	CCDS2628.1, CCDS63563.1, CCDS63564.1, CCDS63565.1	3p25	2007-03-26			ENSG00000169814	ENSG00000169814	3.5.1.12		1122	protein-coding gene	gene with protein product		609019				8001986	Standard	NM_001281723		Approved		uc003cah.3	P43251	OTTHUMG00000129861	ENST00000303498.5:c.231C>T	3.37:g.15677117C>T						BTD_uc011avv.1_Silent_p.I79I|BTD_uc011avw.1_Silent_p.I79I|BTD_uc011avx.1_Silent_p.I57I	p.I77I	NM_000060	NP_000051	P43251	BTD_HUMAN			2	334	+			77			CN hydrolase.		A6NHF2|B2R865|B4DFX1|B4DLJ9|B7Z7C9|F8W1Q3|Q96EM9	Silent	SNP	ENST00000303498.5	37	c.231C>T	CCDS2628.1																																																																																				0.542	BTD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252103.2	NM_000060		30	54	0	0	0	0	30	54				
TOP2B	7155	broad.mit.edu	37	3	25666199	25666199	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:25666199C>T	ENST00000264331.4	-	19	2319	c.2320G>A	c.(2320-2322)Gag>Aag	p.E774K	TOP2B_ENST00000435706.2_Missense_Mutation_p.E769K	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	774					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	GCCGACATCTCAGCAACAGAG	0.363																																						uc011awn.1		NA																	0				breast(2)|ovary(1)|lung(1)|skin(1)	5						c.(2320-2322)GAG>AAG		DNA topoisomerase II, beta isozyme							70.0	70.0	70.0					3																	25666199		1878	4117	5995	SO:0001583	missense	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25666199C>T	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.2320G>A	3.37:g.25666199C>T	ENSP00000264331:p.Glu774Lys					TOP2B_uc003cdj.2_Missense_Mutation_p.E769K	p.E774K	NM_001068	NP_001059	Q02880	TOP2B_HUMAN			19	2363	-			774					Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	ENST00000264331.4	37	c.2320G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.681219	0.96774	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.53423	0.62;0.62	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.75443	0.3850	M	0.88512	2.96	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.79713	-0.1688	10	0.72032	D	0.01	-7.3187	19.6242	0.95671	0.0:1.0:0.0:0.0	.	769	Q02880-2	.	K	769;774;769	ENSP00000396704:E769K;ENSP00000264331:E774K	ENSP00000264331:E774K	E	-	1	0	TOP2B	25641203	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.740000	0.84986	2.704000	0.92352	0.650000	0.86243	GAG		0.363	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				4	14	0	0	0	0	4	14				
NBEAL2	23218	broad.mit.edu	37	3	47030591	47030591	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:47030591G>C	ENST00000450053.3	+	4	465	c.286G>C	c.(286-288)Gag>Cag	p.E96Q	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.E96Q	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	96					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GGAGAACATAGAGGCAGGCCG	0.597																																						uc003cqp.2		NA																	0				ovary(1)	1						c.(286-288)GAG>CAG		neurobeachin-like 2							38.0	42.0	41.0					3																	47030591		2015	4165	6180	SO:0001583	missense	23218						binding	g.chr3:47030591G>C	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.286G>C	3.37:g.47030591G>C	ENSP00000415034:p.Glu96Gln					NBEAL2_uc003cqq.1_Missense_Mutation_p.E89Q	p.E96Q	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	4	465	+		Acute lymphoblastic leukemia(5;0.0534)	96					O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	c.286G>C	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	G	8.107	0.778051	0.16120	.	.	ENSG00000160796	ENST00000292309;ENST00000450053;ENST00000296147	T;T	0.58358	0.34;0.34	3.77	2.8	0.32819	.	.	.	.	.	T	0.38799	0.1054	L	0.35644	1.08	0.28546	N	0.911846	B;B	0.24721	0.11;0.008	B;B	0.21151	0.033;0.005	T	0.33059	-0.9883	9	0.62326	D	0.03	.	5.4298	0.16446	0.1162:0.3156:0.5682:0.0	.	89;96	Q6ZNJ1-4;Q6ZNJ1	.;NBEL2_HUMAN	Q	96;96;89	ENSP00000292309:E96Q;ENSP00000415034:E96Q	ENSP00000292309:E96Q	E	+	1	0	NBEAL2	47005595	0.968000	0.33430	0.973000	0.42090	0.272000	0.26649	1.709000	0.37909	2.114000	0.64651	0.561000	0.74099	GAG		0.597	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		8	10	0	0	0	0	8	10				
ERC2	26059	broad.mit.edu	37	3	55984542	55984542	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:55984542G>A	ENST00000288221.6	-	13	2569	c.2314C>T	c.(2314-2316)Caa>Taa	p.Q772*		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	772						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCCAACTGTTGATTGTGCTTG	0.433																																						uc003dhr.1		NA																	0				ovary(2)	2						c.(2314-2316)CAA>TAA		cytomatrix protein p110							178.0	168.0	171.0					3																	55984542		1935	4150	6085	SO:0001587	stop_gained	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:55984542G>A	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2314C>T	3.37:g.55984542G>A	ENSP00000288221:p.Gln772*					ERC2_uc003dhq.1_RNA|ERC2_uc003dht.1_Nonsense_Mutation_p.Q251*	p.Q772*	NM_015576	NP_056391	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	13	2570	-			772			Potential.		Q2T9F6|Q86TK4	Nonsense_Mutation	SNP	ENST00000288221.6	37	c.2314C>T	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	G	37	6.400270	0.97537	.	.	ENSG00000187672	ENST00000288221	.	.	.	5.96	5.96	0.96718	.	0.063063	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-22.0175	20.4043	0.99006	0.0:0.0:1.0:0.0	.	.	.	.	X	772	.	ENSP00000288221:Q772X	Q	-	1	0	ERC2	55959582	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.472000	0.66768	2.823000	0.97156	0.650000	0.86243	CAA		0.433	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		14	30	0	0	0	0	14	30				
CNTN3	5067	broad.mit.edu	37	3	74535745	74535745	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:74535745C>T	ENST00000263665.6	-	3	247	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	74	Ig-like C2-type 1.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TAACGATGTTCCATACTCATA	0.363																																						uc003dpm.1		NA																	0				breast(3)|ovary(1)|skin(1)	5						c.(220-222)GAA>AAA		contactin 3 precursor							115.0	112.0	113.0					3																	74535745		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74535745C>T	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.220G>A	3.37:g.74535745C>T	ENSP00000263665:p.Glu74Lys						p.E74K	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	3	300	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	74			Ig-like C2-type 1.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.220G>A	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.073332	0.36566	.	.	ENSG00000113805	ENST00000263665	T	0.39229	1.09	5.83	2.92	0.33932	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.254751	0.37623	N	0.002005	T	0.27454	0.0674	N	0.16166	0.38	0.09310	N	1	B	0.30104	0.268	B	0.35353	0.201	T	0.24297	-1.0164	10	0.72032	D	0.01	.	8.9578	0.35829	0.0:0.5743:0.3453:0.0803	.	74	Q9P232	CNTN3_HUMAN	K	74	ENSP00000263665:E74K	ENSP00000263665:E74K	E	-	1	0	CNTN3	74618435	0.008000	0.16893	0.035000	0.18076	0.514000	0.34195	1.172000	0.31908	0.690000	0.31570	0.585000	0.79938	GAA		0.363	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		16	32	0	0	0	0	16	32				
LSAMP	4045	broad.mit.edu	37	3	115560764	115560764	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:115560764C>T	ENST00000490035.2	-	6	1346	c.847G>A	c.(847-849)Gag>Aag	p.E283K	LSAMP_ENST00000498645.1_5'UTR|LSAMP_ENST00000539563.1_Missense_Mutation_p.E280K	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	283	Ig-like C2-type 3.				cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CCGTAGTGCTCCTCAGTGACG	0.507																																						uc003ebt.2		NA																	0					0						c.(847-849)GAG>AAG		limbic system-associated membrane protein							118.0	98.0	105.0					3																	115560764		2203	4300	6503	SO:0001583	missense	4045				cell adhesion|nervous system development	anchored to membrane|plasma membrane		g.chr3:115560764C>T	U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"""Immunoglobulin superfamily / I-set domain containing"""	6705	protein-coding gene	gene with protein product	"""IgLON family member 3"""	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.847G>A	3.37:g.115560764C>T	ENSP00000419000:p.Glu283Lys					LSAMP_uc011bis.1_Missense_Mutation_p.E283K	p.E283K	NM_002338	NP_002329	Q13449	LSAMP_HUMAN		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)	6	1347	-		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)	283			Ig-like C2-type 3.		Q8IV49	Missense_Mutation	SNP	ENST00000490035.2	37	c.847G>A	CCDS2982.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.571314	0.65765	.	.	ENSG00000185565	ENST00000333617;ENST00000490035;ENST00000539563	T;T;T	0.68479	-0.33;-0.33;-0.33	5.87	5.87	0.94306	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.72558	0.3475	L	0.38953	1.18	0.58432	D	0.999996	D;B	0.55800	0.973;0.179	P;B	0.59948	0.866;0.241	T	0.64744	-0.6335	10	0.18710	T	0.47	-11.0699	20.206	0.98277	0.0:1.0:0.0:0.0	.	283;283	B2RCU8;Q13449	.;LSAMP_HUMAN	K	267;283;280	ENSP00000328455:E267K;ENSP00000419000:E283K;ENSP00000443429:E280K	ENSP00000328455:E267K	E	-	1	0	LSAMP	117043454	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.708000	0.54845	2.785000	0.95823	0.655000	0.94253	GAG		0.507	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338		10	34	0	0	0	0	10	34				
POGLUT1	56983	broad.mit.edu	37	3	119198980	119198980	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:119198980G>T	ENST00000295588.4	+	5	623	c.539G>T	c.(538-540)gGt>gTt	p.G180V		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	180					cardiovascular system development (GO:0072358)|Notch signaling pathway (GO:0007219)|protein O-linked glycosylation (GO:0006493)|regulation of Notch signaling pathway (GO:0008593)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	glucosyltransferase activity (GO:0046527)|protein xylosyltransferase activity (GO:0030158)|UDP-glucosyltransferase activity (GO:0035251)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						TATCCTACAGGTCTTGGACGG	0.418																																						uc003ecm.2		NA																	0					0						c.(538-540)GGT>GTT		KTEL (Lys-Tyr-Glu-Leu) containing 1 precursor							127.0	118.0	121.0					3																	119198980		2203	4300	6503	SO:0001583	missense	56983					endoplasmic reticulum lumen	UDP-glucosyltransferase activity	g.chr3:119198980G>T	BC030614	CCDS2988.1	3q13.33	2010-09-29	2010-09-29	2010-09-29	ENSG00000163389	ENSG00000163389			22954	protein-coding gene	gene with protein product	"""KDELC family like 1"""	615618	"""chromosome 3 open reading frame 9"", ""KTEL (Lys-Tyr-Glu-Leu) containing 1"""	C3orf9, KTELC1		16524674	Standard	NM_152305		Approved	MDS010, MGC32995, 9630046K23Rik, MDSRP, hCLP46, KDELCL1, Rumi	uc003ecm.3	Q8NBL1	OTTHUMG00000159379	ENST00000295588.4:c.539G>T	3.37:g.119198980G>T	ENSP00000295588:p.Gly180Val					KTELC1_uc011biz.1_RNA|KTELC1_uc011bja.1_Missense_Mutation_p.G21V	p.G180V	NM_152305	NP_689518	Q8NBL1	PGLT1_HUMAN		GBM - Glioblastoma multiforme(114;0.233)	5	623	+			180					B2RD13|Q53GJ4|Q8N2T1	Missense_Mutation	SNP	ENST00000295588.4	37	c.539G>T	CCDS2988.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.316311|4.316311	0.81469|0.81469	.|.	.|.	ENSG00000163389|ENSG00000163389	ENST00000295588|ENST00000476573	T|.	0.23950|.	1.88|.	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80358|0.80358	0.4608|0.4608	M|M	0.89601|0.89601	3.045|3.045	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	D|D	0.83842|0.83842	0.0258|0.0258	10|5	0.56958|.	D|.	0.05|.	-15.7595|-15.7595	13.5814|13.5814	0.61905|0.61905	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	180|.	Q8NBL1|.	PGLT1_HUMAN|.	V|S	180|166	ENSP00000295588:G180V|.	ENSP00000295588:G180V|.	G|R	+|+	2|3	0|2	POGLUT1|POGLUT1	120681670|120681670	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.047000|9.047000	0.93823|0.93823	2.582000|2.582000	0.87167|0.87167	0.655000|0.655000	0.94253|0.94253	GGT|AGG		0.418	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355034.2	NM_152305		30	15	1	0	1.31e-18	1.42e-18	30	15				
SEC61A1	29927	broad.mit.edu	37	3	127774526	127774526	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:127774526T>A	ENST00000243253.3	+	4	336	c.152T>A	c.(151-153)tTt>tAt	p.F51Y	SEC61A1_ENST00000464451.1_Missense_Mutation_p.F57Y|SEC61A1_ENST00000424880.2_Intron	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	51					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell growth (GO:0016049)|endoplasmic reticulum organization (GO:0007029)|posttranslational protein targeting to membrane (GO:0006620)|protein targeting to ER (GO:0045047)|response to interferon-gamma (GO:0034341)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						ATTCCCCTGTTTGGGATCATG	0.473																																						uc003ekb.2		NA																	0				ovary(1)	1						c.(151-153)TTT>TAT		Sec61 alpha 1 subunit							195.0	176.0	182.0					3																	127774526		2203	4300	6503	SO:0001583	missense	29927				protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding	g.chr3:127774526T>A	AF077032	CCDS3046.1	3q21.3	2008-02-05			ENSG00000058262	ENSG00000058262			18276	protein-coding gene	gene with protein product		609213					Standard	NM_013336		Approved		uc003ekb.3	P61619	OTTHUMG00000159624	ENST00000243253.3:c.152T>A	3.37:g.127774526T>A	ENSP00000243253:p.Phe51Tyr					SEC61A1_uc003ekc.2_Translation_Start_Site|SEC61A1_uc003ekd.2_Intron	p.F51Y	NM_013336	NP_037468	P61619	S61A1_HUMAN			4	336	+			51			Helical; (Potential).		P38378|P57726|Q5JPF8|Q8N0Z4|Q8N3U3|Q8NC71|Q9BU16|Q9Y2R3	Missense_Mutation	SNP	ENST00000243253.3	37	c.152T>A	CCDS3046.1	.	.	.	.	.	.	.	.	.	.	T	8.323	0.824669	0.16678	.	.	ENSG00000058262	ENST00000464451;ENST00000243253	.	.	.	5.96	5.96	0.96718	Translocon Sec61/SecY, plug domain (1);SecY subunit domain (2);	0.000000	0.85682	D	0.000000	T	0.35998	0.0951	N	0.05467	-0.045	0.80722	D	1	B	0.02656	0.0	B	0.20184	0.028	T	0.33085	-0.9882	9	0.02654	T	1	.	16.4343	0.83869	0.0:0.0:0.0:1.0	.	51	P61619	S61A1_HUMAN	Y	57;51	.	ENSP00000243253:F51Y	F	+	2	0	SEC61A1	129257216	1.000000	0.71417	0.995000	0.50966	0.401000	0.30781	8.040000	0.89188	2.285000	0.76669	0.528000	0.53228	TTT		0.473	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356541.2	NM_013336		31	109	0	0	0	0	31	109				
COPB2	9276	broad.mit.edu	37	3	139093334	139093334	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:139093334C>T	ENST00000333188.5	-	7	929	c.748G>A	c.(748-750)Gat>Aat	p.D250N	COPB2_ENST00000507777.1_Missense_Mutation_p.D221N	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	250					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						AACTTACCATCTTCTGAACCT	0.403																																						uc003etf.3		NA																	0				ovary(2)	2						c.(748-750)GAT>AAT		coatomer protein complex, subunit beta 2 (beta							170.0	155.0	160.0					3																	139093334		2203	4300	6503	SO:0001583	missense	9276				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:139093334C>T	BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.748G>A	3.37:g.139093334C>T	ENSP00000329419:p.Asp250Asn					COPB2_uc011bmv.1_Missense_Mutation_p.D221N|COPB2_uc010hui.2_Missense_Mutation_p.D221N|COPB2_uc011bmw.1_Missense_Mutation_p.D250N	p.D250N	NM_004766	NP_004757	P35606	COPB2_HUMAN			7	878	-			250			WD 6.		B4DZI8	Missense_Mutation	SNP	ENST00000333188.5	37	c.748G>A	CCDS3108.1	.	.	.	.	.	.	.	.	.	.	C	36	5.931071	0.97116	.	.	ENSG00000184432	ENST00000333188;ENST00000507777	D;D	0.88975	-2.45;-2.45	5.87	5.87	0.94306	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.96125	0.8737	M	0.93062	3.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96343	0.9252	10	0.72032	D	0.01	.	19.7965	0.96487	0.0:1.0:0.0:0.0	.	250;250	B4E2C9;P35606	.;COPB2_HUMAN	N	250;221	ENSP00000329419:D250N;ENSP00000422295:D221N	ENSP00000329419:D250N	D	-	1	0	COPB2	140576024	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.443000	0.80521	2.774000	0.95407	0.655000	0.94253	GAT		0.403	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766		30	70	0	0	0	0	30	70				
PLSCR4	57088	broad.mit.edu	37	3	145918834	145918834	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:145918834C>G	ENST00000354952.2	-	5	625	c.385G>C	c.(385-387)Gag>Cag	p.E129Q	PLSCR4_ENST00000446574.2_Missense_Mutation_p.E129Q|PLSCR4_ENST00000383083.2_Intron|PLSCR4_ENST00000493382.1_Missense_Mutation_p.E129Q|PLSCR4_ENST00000433593.2_Intron	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	129					cellular response to lipopolysaccharide (GO:0071222)|phospholipid scrambling (GO:0017121)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|enzyme binding (GO:0019899)|phospholipid scramblase activity (GO:0017128)			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						TCCAGAGGCTCAAAATGCTGA	0.318																																						uc010huy.2		NA																	0					0						c.(385-387)GAG>CAG		phospholipid scramblase 4 isoform a							79.0	83.0	82.0					3																	145918834		2203	4297	6500	SO:0001583	missense	57088				blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	g.chr3:145918834C>G	AF199023	CCDS3133.1, CCDS54651.1	3q24	2008-07-18			ENSG00000114698	ENSG00000114698			16497	protein-coding gene	gene with protein product		607612				10930526	Standard	NM_020353		Approved		uc003evt.4	Q9NRQ2	OTTHUMG00000159415	ENST00000354952.2:c.385G>C	3.37:g.145918834C>G	ENSP00000347038:p.Glu129Gln					PLSCR4_uc010huz.2_Missense_Mutation_p.E129Q|PLSCR4_uc003evt.3_Missense_Mutation_p.E129Q|PLSCR4_uc010hva.2_Intron|PLSCR4_uc003evu.3_Intron	p.E129Q	NM_001128305	NP_001121777	Q9NRQ2	PLS4_HUMAN			5	714	-			129			Cytoplasmic (By similarity).		A8K2E9|Q2TTR3|Q658L3|Q6ZR73|Q7Z505	Missense_Mutation	SNP	ENST00000354952.2	37	c.385G>C	CCDS3133.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.659944	0.47572	.	.	ENSG00000114698	ENST00000354952;ENST00000446574;ENST00000493382;ENST00000460350;ENST00000476202;ENST00000481701	T;T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29;1.29	5.25	3.38	0.38709	.	0.000000	0.64402	D	0.000007	T	0.43853	0.1266	M	0.77313	2.365	0.80722	D	1	P	0.43024	0.798	P	0.46049	0.502	T	0.48614	-0.9020	10	0.87932	D	0	.	8.5512	0.33453	0.0:0.7619:0.1537:0.0843	.	129	Q9NRQ2	PLS4_HUMAN	Q	129	ENSP00000347038:E129Q;ENSP00000399315:E129Q;ENSP00000419040:E129Q;ENSP00000417896:E129Q;ENSP00000418173:E129Q;ENSP00000418419:E129Q	ENSP00000347038:E129Q	E	-	1	0	PLSCR4	147401524	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.689000	0.37700	1.385000	0.46445	0.655000	0.94253	GAG		0.318	PLSCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355172.1	NM_020353		8	39	0	0	0	0	8	39				
MME	4311	broad.mit.edu	37	3	154834751	154834751	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:154834751G>A	ENST00000460393.1	+	7	750	c.630G>A	c.(628-630)aaG>aaA	p.K210K	MME_ENST00000360490.2_Silent_p.K210K|MME_ENST00000493237.1_Silent_p.K210K|MME_ENST00000462745.1_Silent_p.K210K|MME_ENST00000492661.1_Silent_p.K210K	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	210					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	CTGATGATAAGAATTCTGTGA	0.299																																						uc010hvr.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(628-630)AAG>AAA		membrane metallo-endopeptidase	Candoxatril(DB00616)						56.0	58.0	57.0					3																	154834751		2201	4295	6496	SO:0001819	synonymous_variant	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154834751G>A		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.630G>A	3.37:g.154834751G>A						MME_uc003fab.1_Silent_p.K210K|MME_uc003fac.1_Silent_p.K210K|MME_uc003fad.1_Silent_p.K210K|MME_uc003fae.1_Silent_p.K210K	p.K210K	NM_007289	NP_009220	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		7	841	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	210			Extracellular (Potential).		A8K6U6|D3DNJ9|Q3MIX4	Silent	SNP	ENST00000460393.1	37	c.630G>A	CCDS3172.1																																																																																				0.299	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		7	29	0	0	0	0	7	29				
VEPH1	79674	broad.mit.edu	37	3	156978935	156978935	+	Silent	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:156978935G>C	ENST00000362010.2	-	14	2797	c.2490C>G	c.(2488-2490)acC>acG	p.T830T	VEPH1_ENST00000543418.1_Silent_p.T785T|RP11-550I24.2_ENST00000487238.1_RNA|RP11-550I24.2_ENST00000488040.1_RNA|RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000392832.2_Silent_p.T830T|VEPH1_ENST00000392833.2_Silent_p.T785T	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	830						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ACAGATATGTGGTTACTTCTC	0.408																																						uc003fbj.1		NA																	0				breast(3)|ovary(1)|lung(1)	5						c.(2488-2490)ACC>ACG		ventricular zone expressed PH domain homolog 1							153.0	143.0	146.0					3																	156978935		2203	4300	6503	SO:0001819	synonymous_variant	79674					plasma membrane		g.chr3:156978935G>C	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.2490C>G	3.37:g.156978935G>C						VEPH1_uc003fbk.1_Silent_p.T830T|VEPH1_uc010hvu.1_Silent_p.T785T	p.T830T	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		14	2807	-			830					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Silent	SNP	ENST00000362010.2	37	c.2490C>G	CCDS3179.1																																																																																				0.408	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		14	74	0	0	0	0	14	74				
PLD1	5337	broad.mit.edu	37	3	171323140	171323140	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:171323140G>C	ENST00000351298.4	-	26	3075	c.2949C>G	c.(2947-2949)ttC>ttG	p.F983L	PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000356327.5_Missense_Mutation_p.F945L	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	983					chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACACCTCCTTGAAGAATTTGT	0.443																																					NSCLC(149;2174 3517 34058)	uc003fhs.2		NA																	0				ovary(2)|lung(1)	3						c.(2947-2949)TTC>TTG		phospholipase D1 isoform a	Choline(DB00122)						170.0	157.0	162.0					3																	171323140		2203	4300	6503	SO:0001583	missense	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171323140G>C	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.2949C>G	3.37:g.171323140G>C	ENSP00000342793:p.Phe983Leu					PLD1_uc003fht.2_Missense_Mutation_p.F945L	p.F983L	NM_002662	NP_002653	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		26	3065	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		983						Missense_Mutation	SNP	ENST00000351298.4	37	c.2949C>G	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.477931	0.84747	.	.	ENSG00000075651	ENST00000356327;ENST00000351298	T;T	0.05139	3.5;3.49	5.67	5.67	0.87782	.	0.048588	0.85682	D	0.000000	T	0.08802	0.0218	L	0.45422	1.42	0.80722	D	1	B;P	0.41748	0.382;0.761	B;B	0.41332	0.206;0.354	T	0.10064	-1.0646	10	0.42905	T	0.14	-19.5841	14.9724	0.71243	0.0702:0.0:0.9298:0.0	.	968;983	Q59EA4;Q13393	.;PLD1_HUMAN	L	945;983	ENSP00000348681:F945L;ENSP00000342793:F983L	ENSP00000342793:F983L	F	-	3	2	PLD1	172805834	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.871000	0.63042	2.669000	0.90835	0.655000	0.94253	TTC		0.443	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		33	95	0	0	0	0	33	95				
MCF2L2	23101	broad.mit.edu	37	3	182923663	182923663	+	Splice_Site	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:182923663C>T	ENST00000328913.3	-	25	3182		c.e25+1		MCF2L2_ENST00000468976.1_Splice_Site|MCF2L2_ENST00000473233.1_Splice_Site	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2								Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GGGTAACCTACCTTTGATATT	0.378																																						uc003fli.1		NA																	0				ovary(2)|large_intestine(2)|breast(1)	5						c.e25+1		Rho family guanine-nucleotide exchange factor							79.0	82.0	81.0					3																	182923663		2202	4299	6501	SO:0001630	splice_region_variant	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:182923663C>T	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.2884+1G>A	3.37:g.182923663C>T							p.D962_splice	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		25	2974	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)							O94942|Q6P2B8|Q6ZVJ5|Q8N318	Splice_Site	SNP	ENST00000328913.3	37	c.2884_splice	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	C	9.779	1.174803	0.21704	.	.	ENSG00000053524	ENST00000328913;ENST00000473233	.	.	.	4.42	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7237	0.57156	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MCF2L2	184406357	1.000000	0.71417	0.995000	0.50966	0.103000	0.19146	3.760000	0.55235	2.458000	0.83093	0.563000	0.77884	.		0.378	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078	Intron	3	21	0	0	0	0	3	21				
MAP3K13	9175	broad.mit.edu	37	3	185183579	185183579	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:185183579G>A	ENST00000265026.3	+	9	1767	c.1433G>A	c.(1432-1434)cGg>cAg	p.R478Q	MAP3K13_ENST00000443863.1_Missense_Mutation_p.R334Q|MAP3K13_ENST00000446828.1_Missense_Mutation_p.R271Q|MAP3K13_ENST00000424227.1_Missense_Mutation_p.R478Q|MAP3K13_ENST00000535426.1_Missense_Mutation_p.R334Q	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13									p.R478L(2)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAGCTTGAGCGGGCGAATAAT	0.473																																						uc010hyf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1432-1434)CGG>CAG		mitogen-activated protein kinase kinase kinase							138.0	142.0	141.0					3																	185183579		2203	4300	6503	SO:0001583	missense	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185183579G>A	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.1433G>A	3.37:g.185183579G>A	ENSP00000265026:p.Arg478Gln					MAP3K13_uc011brt.1_Missense_Mutation_p.R271Q|MAP3K13_uc011bru.1_Missense_Mutation_p.R334Q|MAP3K13_uc003fpi.2_Missense_Mutation_p.R478Q|MAP3K13_uc010hyg.2_Missense_Mutation_p.R168Q	p.R478Q	NM_004721	NP_004712	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		10	1699	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		478						Missense_Mutation	SNP	ENST00000265026.3	37	c.1433G>A	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	G	35	5.500506	0.96355	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026;ENST00000420577	T;T;T;T;T;T	0.80033	-1.33;-1.28;-1.18;-1.18;-1.28;-0.99	4.97	4.97	0.65823	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000001	D	0.85141	0.5629	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74348	0.983;0.983;0.963	D	0.87271	0.2286	10	0.87932	D	0	.	18.2585	0.90025	0.0:0.0:1.0:0.0	.	334;271;478	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	Q	271;478;334;334;478;223	ENSP00000411483:R271Q;ENSP00000399910:R478Q;ENSP00000409325:R334Q;ENSP00000439257:R334Q;ENSP00000265026:R478Q;ENSP00000415712:R223Q	ENSP00000265026:R478Q	R	+	2	0	MAP3K13	186666273	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.771000	0.98977	2.309000	0.77851	0.655000	0.94253	CGG		0.473	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		19	87	0	0	0	0	19	87				
ACAP2	23527	broad.mit.edu	37	3	195015475	195015475	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:195015475C>A	ENST00000326793.6	-	18	1968	c.1738G>T	c.(1738-1740)Gtg>Ttg	p.V580L		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	580					cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						TTGGCTGACACCGTGGAGGGT	0.363																																						uc003fun.3		NA																	0				large_intestine(1)|ovary(1)	2						c.(1738-1740)GTG>TTG		centaurin, beta 2							87.0	85.0	86.0					3																	195015475		2203	4300	6503	SO:0001583	missense	23527				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr3:195015475C>A		CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16469	protein-coding gene	gene with protein product		607766	"""centaurin, beta 2"""	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.1738G>T	3.37:g.195015475C>A	ENSP00000324287:p.Val580Leu						p.V580L	NM_012287	NP_036419	Q15057	ACAP2_HUMAN			18	1979	-			580					A8K2V4|Q8N5Z8|Q9UQR3	Missense_Mutation	SNP	ENST00000326793.6	37	c.1738G>T	CCDS33924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.989|7.989	0.752807|0.752807	0.15778|0.15778	.|.	.|.	ENSG00000114331|ENSG00000114331	ENST00000450200|ENST00000326793	.|T	.|0.44482	.|0.92	5.67|5.67	5.67|5.67	0.87782|0.87782	.|Ankyrin repeat-containing domain (1);	.|0.512331	.|0.21127	.|N	.|0.079720	T|T	0.33177|0.33177	0.0854|0.0854	L|L	0.39898|0.39898	1.24|1.24	0.29691|0.29691	N|N	0.840895|0.840895	.|B	.|0.11235	.|0.004	.|B	.|0.11329	.|0.006	T|T	0.15780|0.15780	-1.0425|-1.0425	5|10	.|0.17832	.|T	.|0.49	.|.	12.0464|12.0464	0.53483|0.53483	0.0:0.9134:0.0:0.0866|0.0:0.9134:0.0:0.0866	.|.	.|580	.|Q15057	.|ACAP2_HUMAN	V|L	173|580	.|ENSP00000324287:V580L	.|ENSP00000324287:V580L	G|V	-|-	2|1	0|0	ACAP2|ACAP2	196496764|196496764	0.886000|0.886000	0.30341|0.30341	0.993000|0.993000	0.49108|0.49108	0.991000|0.991000	0.79684|0.79684	1.316000|1.316000	0.33620|0.33620	2.687000|2.687000	0.91594|0.91594	0.655000|0.655000	0.94253|0.94253	GGT|GTG		0.363	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287		8	54	1	0	2.18e-05	2.28e-05	8	54				
LRCH3	84859	broad.mit.edu	37	3	197553768	197553768	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr3:197553768G>C	ENST00000425562.2	+	5	660	c.660G>C	c.(658-660)ttG>ttC	p.L220F	LRCH3_ENST00000438796.2_Missense_Mutation_p.L220F|LRCH3_ENST00000334859.4_Missense_Mutation_p.L220F|LRCH3_ENST00000414675.2_Missense_Mutation_p.L220F|LRCH3_ENST00000536618.1_5'Flank|LRCH3_ENST00000441090.2_Missense_Mutation_p.L94F			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	220						cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		AGTTGCCTTTGATACGGTTAG	0.383																																						uc011bul.1		NA																	0				ovary(1)	1						c.(658-660)TTG>TTC		leucine-rich repeats and calponin homology (CH)							144.0	133.0	137.0					3																	197553768		2203	4300	6503	SO:0001583	missense	84859					extracellular region		g.chr3:197553768G>C	AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.660G>C	3.37:g.197553768G>C	ENSP00000393579:p.Leu220Phe					LRCH3_uc003fyj.1_Missense_Mutation_p.L220F|LRCH3_uc011bum.1_Missense_Mutation_p.L220F|LRCH3_uc011bun.1_Missense_Mutation_p.L94F|LRCH3_uc003fyk.2_5'Flank	p.L220F	NM_032773	NP_116162	Q96II8	LRCH3_HUMAN	Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)	5	665	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		220			LRR 7.		B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	ENST00000425562.2	37	c.660G>C		.	.	.	.	.	.	.	.	.	.	G	17.92	3.506522	0.64410	.	.	ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562	T;D;T;T;T	0.83075	0.96;-1.68;0.96;0.96;0.96	5.31	1.47	0.22746	.	0.000000	0.64402	D	0.000001	D	0.91543	0.7329	M	0.92169	3.28	0.80722	D	1	D;D;D;D	0.89917	1.0;0.982;0.996;0.991	D;D;D;D	0.91635	0.999;0.919;0.939;0.979	D	0.90847	0.4728	10	0.87932	D	0	-6.7085	9.9274	0.41501	0.3146:0.0:0.6854:0.0	.	94;220;220;220	E9PD99;B4E0T7;Q96II8-2;Q96II8-3	.;.;.;.	F	220;94;220;220;220	ENSP00000399751:L220F;ENSP00000394609:L94F;ENSP00000394965:L220F;ENSP00000334375:L220F;ENSP00000393579:L220F	ENSP00000334375:L220F	L	+	3	2	LRCH3	199038165	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.638000	0.46562	0.338000	0.23692	0.650000	0.86243	TTG		0.383	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773		20	93	0	0	0	0	20	93				
GSX2	170825	broad.mit.edu	37	4	54967925	54967925	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:54967925C>G	ENST00000326902.2	+	2	1065	c.751C>G	c.(751-753)Cag>Gag	p.Q251E	GSX2_ENST00000503800.1_3'UTR|AC110298.1_ENST00000408292.1_RNA|FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000548609.1_3'UTR	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	251					forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|hindbrain morphogenesis (GO:0021575)|neuron fate specification (GO:0048665)|olfactory bulb interneuron differentiation (GO:0021889)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|spinal cord association neuron differentiation (GO:0021527)|subpallium neuron fate commitment (GO:0060163)|telencephalon regionalization (GO:0021978)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			AATCTGGTTTCAGAACCGCCG	0.567																																						uc010igp.1		NA																	0					0						c.(751-753)CAG>GAG		GS homeobox 2							101.0	106.0	104.0					4																	54967925		2203	4300	6503	SO:0001583	missense	170825					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:54967925C>G		CCDS3494.1	4q12	2012-03-09			ENSG00000180613	ENSG00000180613		"""Homeoboxes / ANTP class : HOXL subclass"""	24959	protein-coding gene	gene with protein product						11861295, 12205114	Standard	NM_133267		Approved	Gsh2	uc010igp.1	Q9BZM3	OTTHUMG00000128696	ENST00000326902.2:c.751C>G	4.37:g.54967925C>G	ENSP00000319118:p.Gln251Glu					PDGFRA_uc003haa.2_Intron	p.Q251E	NM_133267	NP_573574	Q9BZM3	GSX2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00216)		2	1015	+	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		251			Homeobox.			Missense_Mutation	SNP	ENST00000326902.2	37	c.751C>G	CCDS3494.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.997733	0.93227	.	.	ENSG00000180613	ENST00000326902	D	0.97665	-4.48	4.9	4.9	0.64082	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.060357	0.64402	D	0.000002	D	0.99242	0.9736	H	0.99074	4.42	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.98563	1.0642	10	0.87932	D	0	.	18.2636	0.90044	0.0:1.0:0.0:0.0	.	251	Q9BZM3	GSX2_HUMAN	E	251	ENSP00000319118:Q251E	ENSP00000319118:Q251E	Q	+	1	0	GSX2	54662682	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.535000	0.85469	0.484000	0.47621	CAG		0.567	GSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250595.1	NM_133267		5	86	0	0	0	0	5	86				
LPHN3	23284	broad.mit.edu	37	4	62897307	62897307	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:62897307C>T	ENST00000514591.1	+	22	3695	c.3366C>T	c.(3364-3366)ttC>ttT	p.F1122F	LPHN3_ENST00000506720.1_Silent_p.F1190F|LPHN3_ENST00000507625.1_Silent_p.F1181F|LPHN3_ENST00000509896.1_Silent_p.F1190F|LPHN3_ENST00000506746.1_Silent_p.F1181F|LPHN3_ENST00000512091.2_Silent_p.F1122F|LPHN3_ENST00000545650.1_Silent_p.F1122F|LPHN3_ENST00000511324.1_Silent_p.F1181F|LPHN3_ENST00000507164.1_Silent_p.F1181F|LPHN3_ENST00000514157.1_Silent_p.F1113F|LPHN3_ENST00000506700.1_Silent_p.F1113F|LPHN3_ENST00000508693.1_Silent_p.F1190F|LPHN3_ENST00000508946.1_Silent_p.F1122F|LPHN3_ENST00000514996.1_Silent_p.F1113F|LPHN3_ENST00000504896.1_Silent_p.F1122F			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1100					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TATTTATTTTCCATTGTGTCC	0.333																																						uc010ihh.2		NA																	0				lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(3364-3366)TTC>TTT		latrophilin 3 precursor							74.0	71.0	72.0					4																	62897307		1810	4072	5882	SO:0001819	synonymous_variant	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62897307C>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.3366C>T	4.37:g.62897307C>T						LPHN3_uc003hcq.3_Silent_p.F1122F|LPHN3_uc003hct.2_Silent_p.F506F	p.F1122F	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			20	3539	+			1100			Helical; Name=7; (Potential).		E9PE04|O94867|Q9NWK5	Silent	SNP	ENST00000514591.1	37	c.3366C>T	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	C	7.856	0.724946	0.15439	.	.	ENSG00000150471	ENST00000502815	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	T	0.64907	0.2641	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62859	-0.6765	4	.	.	.	.	12.6803	0.56918	0.0:0.9247:0.0:0.0753	.	.	.	.	S	571	.	.	P	+	1	0	LPHN3	62579902	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.318000	0.51975	2.584000	0.87258	0.655000	0.94253	CCA		0.333	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			26	12	0	0	0	0	26	12				
CDKL2	8999	broad.mit.edu	37	4	76551024	76551024	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:76551024C>T	ENST00000429927.2	-	2	852	c.149G>A	c.(148-150)cGa>cAa	p.R50Q	CDKL2_ENST00000307465.4_Missense_Mutation_p.R50Q	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	50	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CTTGATTTCTCGCATTGCAAT	0.299																																						uc003hiq.2		NA																	0				ovary(2)|stomach(2)|breast(2)|skin(1)	7						c.(148-150)CGA>CAA		cyclin-dependent kinase-like 2							154.0	144.0	147.0					4																	76551024		2202	4300	6502	SO:0001583	missense	8999				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr4:76551024C>T	U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"""Cyclin-dependent kinases"""	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.149G>A	4.37:g.76551024C>T	ENSP00000412365:p.Arg50Gln					CDKL2_uc011cbp.1_Missense_Mutation_p.R50Q|CDKL2_uc010iix.1_RNA	p.R50Q	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		2	674	-			50			Protein kinase.|[NKR]KIAxRE.		B2R695	Missense_Mutation	SNP	ENST00000429927.2	37	c.149G>A	CCDS3570.1	.	.	.	.	.	.	.	.	.	.	C	33	5.239596	0.95240	.	.	ENSG00000138769	ENST00000429927;ENST00000307465	T;T	0.52526	0.66;0.66	5.04	5.04	0.67666	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.63733	0.2536	L	0.45581	1.43	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65380	-0.6182	9	0.87932	D	0	-10.8739	17.672	0.88221	0.0:1.0:0.0:0.0	.	50;50	B4DH08;Q92772	.;CDKL2_HUMAN	Q	50	ENSP00000412365:R50Q;ENSP00000306340:R50Q	ENSP00000306340:R50Q	R	-	2	0	CDKL2	76770048	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.227000	0.78070	2.776000	0.95493	0.655000	0.94253	CGA		0.299	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948		13	35	0	0	0	0	13	35				
SCD5	79966	broad.mit.edu	37	4	83719652	83719652	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:83719652G>C	ENST00000319540.4	-	1	358	c.39C>G	c.(37-39)ttC>ttG	p.F13L	SCD5_ENST00000273908.4_Missense_Mutation_p.F13L|SCD5_ENST00000282709.4_Missense_Mutation_p.F13L	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	13					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				TGGCGTCGCAGAAAGGGATCT	0.736																																						uc003hna.2		NA																	0				ovary(1)	1						c.(37-39)TTC>TTG		stearoyl-CoA desaturase 5 isoform a							16.0	17.0	17.0					4																	83719652		2201	4291	6492	SO:0001583	missense	79966				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	g.chr4:83719652G>C	AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"""Fatty acid desaturases"""	21088	protein-coding gene	gene with protein product		608370	"""stearoyl-CoA desaturase 4"""	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.39C>G	4.37:g.83719652G>C	ENSP00000316329:p.Phe13Leu					SCD5_uc003hnb.3_Missense_Mutation_p.F13L|SCD5_uc003hnc.2_Missense_Mutation_p.F13L	p.F13L	NM_001037582	NP_001032671	Q86SK9	SCD5_HUMAN			1	359	-		Colorectal(4;0.0323)|Hepatocellular(203;0.115)	13					B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Missense_Mutation	SNP	ENST00000319540.4	37	c.39C>G	CCDS34024.1	.	.	.	.	.	.	.	.	.	.	G	9.309	1.055134	0.19907	.	.	ENSG00000145284	ENST00000319540;ENST00000273908;ENST00000282709	T	0.38560	1.13	4.2	3.25	0.37280	.	1.913230	0.02442	N	0.084693	T	0.27524	0.0676	N	0.08118	0	0.09310	N	1	B;B;B	0.24426	0.073;0.103;0.02	B;B;B	0.25140	0.024;0.058;0.007	T	0.13629	-1.0502	10	0.30078	T	0.28	-3.2672	8.7376	0.34539	0.1259:0.0:0.8741:0.0	.	13;13;13	Q9BSN4;Q86SK9-2;Q86SK9	.;.;SCD5_HUMAN	L	13	ENSP00000316329:F13L	ENSP00000273908:F13L	F	-	3	2	SCD5	83938676	0.261000	0.24063	0.390000	0.26220	0.780000	0.44128	1.745000	0.38278	2.153000	0.67306	0.471000	0.43371	TTC		0.736	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252635.1	NM_024906		6	6	0	0	0	0	6	6				
MMRN1	22915	broad.mit.edu	37	4	90857798	90857798	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:90857798G>A	ENST00000394980.1	+	7	3286	c.2967G>A	c.(2965-2967)tcG>tcA	p.S989S	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Silent_p.S731S|MMRN1_ENST00000264790.2_Silent_p.S989S			Q13201	MMRN1_HUMAN	multimerin 1	989					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TAGATCGATCGTTGCCTGGTA	0.353																																						uc003hst.2		NA																	0				ovary(4)	4						c.(2965-2967)TCG>TCA		multimerin 1							59.0	63.0	62.0					4																	90857798		2203	4298	6501	SO:0001819	synonymous_variant	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90857798G>A	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2967G>A	4.37:g.90857798G>A						MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Silent_p.S731S	p.S989S	NM_007351	NP_031377	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	6	3038	+		Hepatocellular(203;0.114)	989					Q4W5L1|Q6P3T8|Q6ZUL9	Silent	SNP	ENST00000394980.1	37	c.2967G>A	CCDS3635.1																																																																																				0.353	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		36	16	0	0	0	0	36	16				
BMPR1B	658	broad.mit.edu	37	4	96046186	96046186	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:96046186G>C	ENST00000515059.1	+	8	782	c.499G>C	c.(499-501)Gaa>Caa	p.E167Q	BMPR1B_ENST00000394931.1_Missense_Mutation_p.E167Q|BMPR1B_ENST00000440890.2_Missense_Mutation_p.E197Q|BMPR1B_ENST00000264568.4_Missense_Mutation_p.E167Q	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	167					BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		AGAACAGGATGAAACTTACAT	0.408																																						uc003htm.3		NA																	0				lung(4)|skin(2)|stomach(1)|breast(1)	8						c.(499-501)GAA>CAA		bone morphogenetic protein receptor, type IB							84.0	82.0	83.0					4																	96046186		2203	4300	6503	SO:0001583	missense	658				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity	g.chr4:96046186G>C	D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"""CD molecules"""	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.499G>C	4.37:g.96046186G>C	ENSP00000426617:p.Glu167Gln					BMPR1B_uc010ilb.2_Missense_Mutation_p.E167Q|BMPR1B_uc003htn.3_Missense_Mutation_p.E167Q	p.E167Q	NM_001203	NP_001194	O00238	BMR1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)	8	773	+		Hepatocellular(203;0.114)	167			Cytoplasmic (Potential).		B2R953|B4DSV1|P78366	Missense_Mutation	SNP	ENST00000515059.1	37	c.499G>C	CCDS3642.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881400	0.51801	.	.	ENSG00000138696	ENST00000515059;ENST00000512312;ENST00000509540;ENST00000440890;ENST00000264568;ENST00000394931	D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.57;-1.59;-1.59	5.56	5.56	0.83823	.	0.151912	0.56097	D	0.000021	D	0.89694	0.6789	M	0.78801	2.425	0.80722	D	1	D	0.53462	0.96	P	0.56916	0.809	D	0.88434	0.3037	10	0.37606	T	0.19	.	19.5302	0.95226	0.0:0.0:1.0:0.0	.	167	O00238	BMR1B_HUMAN	Q	167;167;167;197;167;167	ENSP00000426617:E167Q;ENSP00000425444:E167Q;ENSP00000421671:E167Q;ENSP00000401907:E197Q;ENSP00000264568:E167Q;ENSP00000378389:E167Q	ENSP00000264568:E167Q	E	+	1	0	BMPR1B	96265209	1.000000	0.71417	0.921000	0.36526	0.998000	0.95712	9.807000	0.99171	2.619000	0.88677	0.557000	0.71058	GAA		0.408	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253609.3	NM_001203		10	21	0	0	0	0	10	21				
ADH4	127	broad.mit.edu	37	4	100062796	100062796	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:100062796A>G	ENST00000265512.7	-	3	232	c.158T>C	c.(157-159)gTt>gCt	p.V53A	ADH4_ENST00000504581.1_5'UTR|ADH4_ENST00000508393.1_Missense_Mutation_p.V72A|ADH4_ENST00000505590.1_Missense_Mutation_p.V72A|ADH4_ENST00000423445.1_Missense_Mutation_p.V72A|RP11-696N14.1_ENST00000500358.2_RNA	NM_000670.3	NP_000661.2	P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	53					alcohol catabolic process (GO:0046164)|alcohol metabolic process (GO:0006066)|cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|quinone metabolic process (GO:1901661)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|all-trans retinal binding (GO:0005503)|benzaldehyde dehydrogenase activity (GO:0019115)|ethanol binding (GO:0035276)|NAD binding (GO:0051287)|NADPH:quinone reductase activity (GO:0003960)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)		AGAATCGATAACAGTGGCATC	0.443																																						uc003hun.2		NA																	0				skin(2)	2						c.(157-159)GTT>GCT		class II alcohol dehydrogenase, pi subunit	NADH(DB00157)						119.0	102.0	108.0					4																	100062796		2203	4300	6503	SO:0001583	missense	127				alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding	g.chr4:100062796A>G	M15943	CCDS34032.1	4q22	2008-02-05				ENSG00000198099	1.1.1.1	"""Alcohol dehydrogenases"""	252	protein-coding gene	gene with protein product		103740					Standard	NM_000670		Approved	ADH-2	uc003hun.3	P08319		ENST00000265512.7:c.158T>C	4.37:g.100062796A>G	ENSP00000265512:p.Val53Ala					uc003hum.1_Intron|ADH4_uc011ced.1_Missense_Mutation_p.V72A	p.V53A	NM_000670	NP_000661	P08319	ADH4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	3	234	-			53					A8K470|B4DIE7|C9J4A9|Q8TCD7	Missense_Mutation	SNP	ENST00000265512.7	37	c.158T>C	CCDS34032.1	.	.	.	.	.	.	.	.	.	.	A	8.156	0.788433	0.16258	.	.	ENSG00000198099	ENST00000508393;ENST00000265512;ENST00000423445;ENST00000505590;ENST00000512499;ENST00000504125	T;T;T;T;T;T	0.04970	3.52;3.52;3.52;3.52;3.52;3.52	4.31	-7.79	0.01218	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	1.694340	0.03555	N	0.226078	T	0.03136	0.0092	N	0.04063	-0.285	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.25140	0.039;0.058	T	0.45716	-0.9242	10	0.59425	D	0.04	-0.4041	6.3169	0.21196	0.2368:0.1076:0.5496:0.1059	.	72;53	P08319-2;P08319	.;ADH4_HUMAN	A	72;53;72;72;72;53	ENSP00000424630:V72A;ENSP00000265512:V53A;ENSP00000397939:V72A;ENSP00000425416:V72A;ENSP00000423571:V72A;ENSP00000427525:V53A	ENSP00000265512:V53A	V	-	2	0	ADH4	100281819	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.771000	0.04699	-1.740000	0.01345	-0.376000	0.06991	GTT		0.443	ADH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364220.2	NM_000670		18	32	0	0	0	0	18	32				
NFKB1	4790	broad.mit.edu	37	4	103534639	103534639	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:103534639G>A	ENST00000505458.1	+	23	2924	c.2647G>A	c.(2647-2649)Gaa>Aaa	p.E883K	NFKB1_ENST00000226574.4_Missense_Mutation_p.E884K|NFKB1_ENST00000394820.4_Missense_Mutation_p.E883K|NFKB1_ENST00000600343.1_Missense_Mutation_p.E703K			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	883	Death.|Interaction with CFLAR.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	GGGCTACACCGAAGCAATTGA	0.567																																						uc011ceq.1		NA																	0				ovary(2)|breast(2)|skin(1)	5						c.(2647-2649)GAA>AAA		nuclear factor kappa-B, subunit 1 isoform 1	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)						76.0	63.0	67.0					4																	103534639		2203	4300	6503	SO:0001583	missense	4790				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr4:103534639G>A	M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"""Ankyrin repeat domain containing"""	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.2647G>A	4.37:g.103534639G>A	ENSP00000424790:p.Glu883Lys					NFKB1_uc011cep.1_Missense_Mutation_p.E884K|NFKB1_uc011cer.1_Missense_Mutation_p.E703K	p.E883K	NM_003998	NP_003989	P19838	NFKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	23	3114	+		Hepatocellular(203;0.217)	883			Death.|Interaction with CFLAR.		A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Missense_Mutation	SNP	ENST00000505458.1	37	c.2647G>A	CCDS54783.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.106475	0.56291	.	.	ENSG00000109320	ENST00000226574;ENST00000394820;ENST00000505458	T;T;T	0.26067	1.76;1.76;1.76	5.32	5.32	0.75619	Death (2);DEATH-like (2);	0.155762	0.43260	D	0.000588	T	0.41003	0.1140	L	0.45137	1.4	0.45161	D	0.998172	D;D;P	0.76494	0.999;0.998;0.839	P;P;B	0.61477	0.889;0.766;0.127	T	0.15896	-1.0421	10	0.59425	D	0.04	-28.6724	16.1745	0.81842	0.0:0.0:1.0:0.0	.	703;883;884	B3KVE8;P19838;P19838-2	.;NFKB1_HUMAN;.	K	884;883;883	ENSP00000226574:E884K;ENSP00000378297:E883K;ENSP00000424790:E883K	ENSP00000226574:E884K	E	+	1	0	NFKB1	103753685	1.000000	0.71417	0.525000	0.27900	0.063000	0.16089	4.671000	0.61590	2.486000	0.83907	0.650000	0.86243	GAA		0.567	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1			8	21	0	0	0	0	8	21				
KIAA1109	84162	broad.mit.edu	37	4	123249442	123249442	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:123249442G>A	ENST00000264501.4	+	66	11552	c.11179G>A	c.(11179-11181)Gaa>Aaa	p.E3727K	KIAA1109_ENST00000388738.3_Missense_Mutation_p.E3727K			Q2LD37	K1109_HUMAN	KIAA1109	3727					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTCTACCAGTGAAGATTCCGA	0.423																																						uc003ieh.2		NA																	0				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(11179-11181)GAA>AAA		fragile site-associated protein							102.0	95.0	97.0					4																	123249442		1835	4084	5919	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123249442G>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.11179G>A	4.37:g.123249442G>A	ENSP00000264501:p.Glu3727Lys					KIAA1109_uc003iem.2_Missense_Mutation_p.E118K	p.E3727K	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			64	11224	+			3727					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.11179G>A	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	G	35	5.518623	0.96416	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707	T;T;T	0.39997	2.28;2.28;1.05	5.57	5.57	0.84162	.	0.067011	0.64402	D	0.000017	T	0.61476	0.2350	L	0.54323	1.7	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.76071	0.987;0.971	T	0.55774	-0.8088	10	0.35671	T	0.21	.	19.5519	0.95324	0.0:0.0:1.0:0.0	.	3726;3727	Q2LD37-4;Q2LD37	.;K1109_HUMAN	K	3727;3727;431	ENSP00000264501:E3727K;ENSP00000373390:E3727K;ENSP00000410874:E431K	ENSP00000264501:E3727K	E	+	1	0	KIAA1109	123468892	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.352000	0.97076	2.623000	0.88846	0.467000	0.42956	GAA		0.423	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		22	43	0	0	0	0	22	43				
SPATA5	166378	broad.mit.edu	37	4	123977581	123977581	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:123977581A>G	ENST00000274008.4	+	12	2188	c.2119A>G	c.(2119-2121)Aga>Gga	p.R707G	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	707					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TGAATCTGAAAGAGCAGTTAG	0.383																																						uc003iez.3		NA																	0					0						c.(2119-2121)AGA>GGA		spermatogenesis associated 5							83.0	86.0	85.0					4																	123977581		2203	4300	6503	SO:0001583	missense	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:123977581A>G	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.2119A>G	4.37:g.123977581A>G	ENSP00000274008:p.Arg707Gly						p.R707G	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN			12	2192	+			707					C9JT97|Q86XW1|Q8NI20|Q8TDL7	Missense_Mutation	SNP	ENST00000274008.4	37	c.2119A>G	CCDS3730.1	.	.	.	.	.	.	.	.	.	.	A	18.46	3.628601	0.67015	.	.	ENSG00000145375	ENST00000274008	D	0.93076	-3.16	4.63	3.36	0.38483	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.056622	0.64402	D	0.000002	D	0.94699	0.8290	L	0.59436	1.845	0.41823	D	0.990032	D	0.71674	0.998	D	0.71656	0.974	D	0.94273	0.7512	10	0.62326	D	0.03	-26.3188	9.9727	0.41763	0.6281:0.3719:0.0:0.0	.	707	Q8NB90	SPAT5_HUMAN	G	707	ENSP00000274008:R707G	ENSP00000274008:R707G	R	+	1	2	SPATA5	124197031	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.545000	0.45769	2.081000	0.62600	0.533000	0.62120	AGA		0.383	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207		10	13	0	0	0	0	10	13				
FAT4	79633	broad.mit.edu	37	4	126238739	126238739	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:126238739C>G	ENST00000394329.3	+	1	1186	c.1173C>G	c.(1171-1173)aaC>aaG	p.N391K		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	391	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N391N(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCGCGGCCAACGGGAACATCT	0.607											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ifj.3		NA																	2	Substitution - coding silent(2)		endometrium(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(1171-1173)AAC>AAG		FAT tumor suppressor homolog 4 precursor							28.0	32.0	31.0					4																	126238739		2035	4175	6210	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126238739C>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.1173C>G	4.37:g.126238739C>G	ENSP00000377862:p.Asn391Lys		OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1548		p.N391K	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	1173	+			391			Cadherin 4.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.1173C>G	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	11.47	1.649524	0.29336	.	.	ENSG00000196159	ENST00000394329	T	0.59906	0.23	4.69	0.976	0.19727	Cadherin (4);Cadherin-like (1);	0.000000	0.37219	U	0.002190	T	0.80939	0.4720	H	0.97315	3.98	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.80578	-0.1320	10	0.54805	T	0.06	.	8.8728	0.35327	0.0:0.5403:0.0:0.4597	.	391	Q6V0I7	FAT4_HUMAN	K	391	ENSP00000377862:N391K	ENSP00000377862:N391K	N	+	3	2	FAT4	126458189	0.934000	0.31675	1.000000	0.80357	0.427000	0.31564	0.026000	0.13599	0.213000	0.20722	-0.150000	0.13652	AAC		0.607	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		6	21	0	0	0	0	6	21				
LARP1B	55132	broad.mit.edu	37	4	129043203	129043203	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:129043203C>T	ENST00000326639.6	+	11	1595	c.1384C>T	c.(1384-1386)Cct>Tct	p.P462S	LARP1B_ENST00000441387.1_Missense_Mutation_p.P462S|LARP1B_ENST00000512292.1_Missense_Mutation_p.P462S|LARP1B_ENST00000264584.5_Missense_Mutation_p.P415S|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000427266.1_Missense_Mutation_p.P462S	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	462			P -> R (in dbSNP:rs12508837). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17974005}.			nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						GAAAAAACATCCTGGAGGAGA	0.368																																						uc003iga.2		NA																	0					0						c.(1384-1386)CCT>TCT		La ribonucleoprotein domain family member 2							105.0	100.0	101.0					4																	129043203		2203	4300	6503	SO:0001583	missense	55132						RNA binding	g.chr4:129043203C>T		CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"""La ribonucleoprotein domain containing"""	24704	protein-coding gene	gene with protein product			"""La ribonucleoprotein domain family, member 2"""	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.1384C>T	4.37:g.129043203C>T	ENSP00000321997:p.Pro462Ser					LARP1B_uc003igc.2_5'UTR|LARP1B_uc003ifz.1_Missense_Mutation_p.P462S|LARP1B_uc003igb.1_Missense_Mutation_p.P177S	p.P462S	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN			11	1515	+			462					Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	ENST00000326639.6	37	c.1384C>T	CCDS3738.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.79|15.79	2.938679|2.938679	0.52972|0.52972	.|.	.|.	ENSG00000138709|ENSG00000138709	ENST00000326639;ENST00000512292;ENST00000508819;ENST00000264584;ENST00000441387;ENST00000427266|ENST00000507377	T;T;T;T;T;T|.	0.33654|.	1.87;1.41;1.42;1.89;1.85;1.4|.	5.27|5.27	4.43|4.43	0.53597|0.53597	.|.	0.058961|.	0.64402|.	D|.	0.000001|.	T|T	0.73289|0.73289	0.3568|0.3568	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.998;1.0;0.998|.	T|T	0.74627|0.74627	-0.3602|-0.3602	10|5	0.46703|.	T|.	0.11|.	.|.	13.807|13.807	0.63238|0.63238	0.0:0.927:0.0:0.073|0.0:0.927:0.0:0.073	.|.	415;462;462|.	D6RJB0;Q659C4;G3XAJ5|.	.;LAR1B_HUMAN;.|.	S|F	462;462;415;415;462;462|430	ENSP00000321997:P462S;ENSP00000422850:P462S;ENSP00000427281:P415S;ENSP00000264584:P415S;ENSP00000396521:P462S;ENSP00000403586:P462S|.	ENSP00000264584:P415S|.	P|S	+|+	1|2	0|0	LARP1B|LARP1B	129262653|129262653	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.041000|0.041000	0.13682|0.13682	3.026000|3.026000	0.49689|0.49689	1.457000|1.457000	0.47850|0.47850	0.650000|0.650000	0.86243|0.86243	CCT|TCC		0.368	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078		41	38	0	0	0	0	41	38				
POU4F2	5458	broad.mit.edu	37	4	147561835	147561835	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:147561835C>T	ENST00000281321.3	+	2	1353	c.1105C>T	c.(1105-1107)Cgg>Tgg	p.R369W	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	369					axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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 negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CATTCAGCCTCGGCCCTCCTC	0.577																																						uc003ikv.2		NA																	0				breast(1)	1						c.(1105-1107)CGG>TGG		Brn3b POU domain transcription factor							59.0	64.0	62.0					4																	147561835		2203	4300	6503	SO:0001583	missense	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147561835C>T	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.1105C>T	4.37:g.147561835C>T	ENSP00000281321:p.Arg369Trp						p.R369W	NM_004575	NP_004566	Q12837	PO4F2_HUMAN			2	1353	+	all_hematologic(180;0.151)		369			Homeobox.		B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	ENST00000281321.3	37	c.1105C>T	CCDS34074.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550579	0.65311	.	.	ENSG00000151615	ENST00000281321	D	0.96232	-3.95	5.55	3.74	0.42951	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97704	0.9247	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97730	1.0202	10	0.87932	D	0	.	14.3244	0.66509	0.2781:0.7219:0.0:0.0	.	369	Q12837	PO4F2_HUMAN	W	369	ENSP00000281321:R369W	ENSP00000281321:R369W	R	+	1	2	POU4F2	147781285	0.995000	0.38212	0.997000	0.53966	0.920000	0.55202	3.227000	0.51262	0.638000	0.30545	0.561000	0.74099	CGG		0.577	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		18	52	0	0	0	0	18	52				
MAB21L2	10586	broad.mit.edu	37	4	151504859	151504859	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:151504859G>C	ENST00000317605.4	+	1	1783	c.678G>C	c.(676-678)gaG>gaC	p.E226D	LRBA_ENST00000507224.1_Intron|RP11-1336O20.2_ENST00000507934.1_RNA|LRBA_ENST00000503716.1_5'Flank|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000510413.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	226					camera-type eye development (GO:0043010)|embryonic body morphogenesis (GO:0010172)|eye development (GO:0001654)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		GCTCGGCAGAGAGCGACGCCT	0.647																																						uc003ilw.2		NA																	0				ovary(1)	1						c.(676-678)GAG>GAC		mab-21-like protein 2							36.0	38.0	37.0					4																	151504859		2203	4300	6503	SO:0001583	missense	10586				nervous system development	nucleus		g.chr4:151504859G>C	AF155219	CCDS3774.1	4q31.3	2013-10-22	2001-11-28		ENSG00000181541	ENSG00000181541			6758	protein-coding gene	gene with protein product		604357	"""mab-21 (C. elegans)-like 2"""				Standard	NM_006439		Approved		uc003ilw.3	Q9Y586	OTTHUMG00000161442	ENST00000317605.4:c.678G>C	4.37:g.151504859G>C	ENSP00000324701:p.Glu226Asp					LRBA_uc003ils.3_5'Flank|LRBA_uc003ilt.3_Intron|LRBA_uc003ilu.3_Intron|LRBA_uc010ipj.2_Intron	p.E226D	NM_006439	NP_006430	Q9Y586	MB212_HUMAN		GBM - Glioblastoma multiforme(119;0.159)	1	1783	+	all_hematologic(180;0.151)		226					B3KP37|Q9HBA7	Missense_Mutation	SNP	ENST00000317605.4	37	c.678G>C	CCDS3774.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541239	0.65085	.	.	ENSG00000181541	ENST00000317605	T	0.06849	3.25	5.55	4.69	0.59074	Ricin B lectin (1);	0.000000	0.85682	D	0.000000	T	0.24967	0.0606	M	0.69823	2.125	0.54753	D	0.999986	D	0.89917	1.0	D	0.77004	0.989	T	0.04103	-1.0977	10	0.20046	T	0.44	-20.442	13.4874	0.61375	0.0763:0.0:0.9237:0.0	.	226	Q9Y586	MB212_HUMAN	D	226	ENSP00000324701:E226D	ENSP00000324701:E226D	E	+	3	2	MAB21L2	151724309	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.842000	0.62831	1.314000	0.45095	0.462000	0.41574	GAG		0.647	MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364937.1	NM_006439		12	41	0	0	0	0	12	41				
NAF1	92345	broad.mit.edu	37	4	164069513	164069513	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:164069513G>C	ENST00000274054.2	-	3	807	c.614C>G	c.(613-615)tCa>tGa	p.S205*	NAF1_ENST00000422287.2_Nonsense_Mutation_p.S205*	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	205					pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				AATAATACTTGAAACCATCCC	0.284																																						uc003iqj.2		NA																	0				ovary(2)	2						c.(613-615)TCA>TGA		nuclear assembly factor 1 homolog isoform a							86.0	101.0	96.0					4																	164069513		2202	4292	6494	SO:0001587	stop_gained	92345				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr4:164069513G>C		CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"""nuclear assembly factor 1 homolog (S. cerevisiae)"""			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.614C>G	4.37:g.164069513G>C	ENSP00000274054:p.Ser205*					NAF1_uc010iqw.1_Nonsense_Mutation_p.S205*	p.S205*	NM_138386	NP_612395	Q96HR8	NAF1_HUMAN			3	808	-	all_hematologic(180;0.166)	Prostate(90;0.109)	205					D3DP28|E9PAZ2	Nonsense_Mutation	SNP	ENST00000274054.2	37	c.614C>G	CCDS3803.1	.	.	.	.	.	.	.	.	.	.	G	38	7.152894	0.98099	.	.	ENSG00000145414	ENST00000422287;ENST00000274054	.	.	.	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-18.1829	17.9917	0.89171	0.0:0.0:1.0:0.0	.	.	.	.	X	205	.	ENSP00000274054:S205X	S	-	2	0	NAF1	164288963	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.810000	0.86072	2.498000	0.84270	0.563000	0.77884	TCA		0.284	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		9	99	0	0	0	0	9	99				
TKTL2	84076	broad.mit.edu	37	4	164393894	164393894	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:164393894T>A	ENST00000280605.3	-	1	1153	c.993A>T	c.(991-993)aaA>aaT	p.K331N		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	331						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				cacggcccagtttagccagag	0.423																																						uc003iqp.3		NA																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(991-993)AAA>AAT		transketolase-like 2							122.0	120.0	121.0					4																	164393894		2203	4300	6503	SO:0001583	missense	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164393894T>A	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.993A>T	4.37:g.164393894T>A	ENSP00000280605:p.Lys331Asn						p.K331N	NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN			1	1154	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	331					A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	c.993A>T	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	T	16.05	3.013166	0.54468	.	.	ENSG00000151005	ENST00000280605	D	0.91686	-2.89	4.08	2.9	0.33743	Transketolase-like, pyrimidine-binding domain (2);	0.057884	0.64402	D	0.000003	D	0.95281	0.8469	M	0.84511	2.7	0.51482	D	0.999923	D	0.76494	0.999	D	0.76071	0.987	D	0.94287	0.7525	10	0.72032	D	0.01	-16.7076	7.9761	0.30155	0.0:0.1005:0.0:0.8995	.	331	Q9H0I9	TKTL2_HUMAN	N	331	ENSP00000280605:K331N	ENSP00000280605:K331N	K	-	3	2	TKTL2	164613344	0.971000	0.33674	0.998000	0.56505	0.989000	0.77384	0.347000	0.20014	0.910000	0.36722	0.533000	0.62120	AAA		0.423	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		28	82	0	0	0	0	28	82				
DDX60L	91351	broad.mit.edu	37	4	169317111	169317111	+	Splice_Site	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:169317111G>C	ENST00000511577.1	-	27	3903	c.3656C>G	c.(3655-3657)tCa>tGa	p.S1219*	DDX60L_ENST00000260184.7_Splice_Site_p.S1219*|DDX60L_ENST00000505890.1_Splice_Site_p.S1220*			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1219	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CTGACGTACTGAGTCTTTATT	0.343																																						uc003irq.3		NA																	0				ovary(1)	1						c.(3655-3657)TCA>TGA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							91.0	83.0	85.0					4																	169317111		1815	4066	5881	SO:0001630	splice_region_variant	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169317111G>C	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.3657+1C>G	4.37:g.169317111G>C						DDX60L_uc003irr.1_Nonsense_Mutation_p.S1220*|DDX60L_uc003irs.1_Nonsense_Mutation_p.S914*	p.S1219*	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	27	3877	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1219			Helicase C-terminal.		Q96ND6	Nonsense_Mutation	SNP	ENST00000511577.1	37	c.3656C>G		.	.	.	.	.	.	.	.	.	.	g	37	6.267867	0.97426	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890	.	.	.	1.54	-3.09	0.05331	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	3.738	0.08518	0.3258:0.4024:0.2718:0.0	.	.	.	.	X	1219;1219;1220	.	ENSP00000260184:S1219X	S	-	2	0	DDX60L	169553686	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.073000	0.01376	-1.816000	0.01221	-1.740000	0.00687	TCA		0.343	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967	Nonsense_Mutation	4	23	0	0	0	0	4	23				
DDX60L	91351	broad.mit.edu	37	4	169393962	169393962	+	Splice_Site	SNP	T	T	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:169393962T>C	ENST00000511577.1	-	2	138		c.e2-2		DDX60L_ENST00000515088.1_Splice_Site|SNORA51_ENST00000384442.1_RNA|DDX60L_ENST00000260184.7_Splice_Site|DDX60L_ENST00000505890.1_Splice_Site			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like								ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		ATGGCACCTCTGTAATAAAAG	0.343																																						uc003irq.3		NA																	0				ovary(1)	1						c.e2-1		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like																																				SO:0001630	splice_region_variant	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169393962T>C	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.110-2A>G	4.37:g.169393962T>C						DDX60L_uc003irr.1_Splice_Site|DDX60L_uc003irt.1_Splice_Site		NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	2	112	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)						Q96ND6	Splice_Site	SNP	ENST00000511577.1	37	c.-109_splice																																																																																					0.343	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967	Intron	12	5	0	0	0	0	12	5				
AADAT	51166	broad.mit.edu	37	4	170989840	170989840	+	Splice_Site	SNP	T	T	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr4:170989840T>G	ENST00000337664.4	-	8	1080		c.e8-2		AADAT_ENST00000509167.1_Splice_Site|AADAT_ENST00000353187.2_Splice_Site|AADAT_ENST00000515480.1_Splice_Site	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase						2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	mitochondrial matrix (GO:0005759)	2-aminoadipate transaminase activity (GO:0047536)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)		ATTCTCAACCTACGTGGAAAG	0.363																																						uc003isr.2		NA																	0					0						c.e8-1		kynurenine aminotransferase II	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						85.0	91.0	89.0					4																	170989840		2203	4300	6503	SO:0001630	splice_region_variant	51166				2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity	g.chr4:170989840T>G	AF097994	CCDS3814.1, CCDS75209.1	4q33	2010-12-09			ENSG00000109576	ENSG00000109576	2.6.1.39		17929	protein-coding gene	gene with protein product	"""kynurenine aminotransferase II"", ""L kynurenine/alpha aminoadipate aminotransferase"""	611754				12126930, 10441733	Standard	NM_182662		Approved	KATII, KAT2	uc003isr.3	Q8N5Z0	OTTHUMG00000160912	ENST00000337664.4:c.804-2A>C	4.37:g.170989840T>G						AADAT_uc003iss.2_Splice_Site_p.G268_splice|AADAT_uc003ist.2_Splice_Site_p.G272_splice	p.G268_splice	NM_016228	NP_057312	Q8N5Z0	AADAT_HUMAN		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	8	1146	-		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)						B3KP84|Q9UL02	Splice_Site	SNP	ENST00000337664.4	37	c.804_splice	CCDS3814.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.959482	0.74016	.	.	ENSG00000109576	ENST00000337664;ENST00000515480;ENST00000509167;ENST00000353187	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1741	0.81840	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	AADAT	171226415	1.000000	0.71417	0.995000	0.50966	0.849000	0.48306	6.565000	0.73974	2.285000	0.76669	0.533000	0.62120	.		0.363	AADAT-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362952.1	NM_016228	Intron	6	54	0	0	0	0	6	54				
SEMA5A	9037	broad.mit.edu	37	5	9154808	9154808	+	Splice_Site	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:9154808C>G	ENST00000382496.5	-	12	1939		c.e12-1			NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A						axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GTTCCGTAATCTATGAAGGTC	0.498																																						uc003jek.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.e12-1		semaphorin 5A precursor							65.0	63.0	63.0					5																	9154808		2203	4300	6503	SO:0001630	splice_region_variant	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9154808C>G	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1274-1G>C	5.37:g.9154808C>G							p.D425_splice	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			12	1986	-								D3DTC6|O60408|Q1RLL9	Splice_Site	SNP	ENST00000382496.5	37	c.1274_splice	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033122	0.35893	.	.	ENSG00000112902	ENST00000382496	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2861	0.87142	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEMA5A	9207808	1.000000	0.71417	0.948000	0.38648	0.053000	0.15095	7.281000	0.78621	2.693000	0.91896	0.655000	0.94253	.		0.498	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2		Intron	29	130	0	0	0	0	29	130				
DNAH5	1767	broad.mit.edu	37	5	13923469	13923469	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:13923469C>T	ENST00000265104.4	-	4	462	c.358G>A	c.(358-360)Gat>Aat	p.D120N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	120	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D120N(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGAGCCACATCGTTTCCCTCG	0.458									Kartagener syndrome																													uc003jfd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(358-360)GAT>AAT		dynein, axonemal, heavy chain 5							214.0	202.0	206.0					5																	13923469		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13923469C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.358G>A	5.37:g.13923469C>T	ENSP00000265104:p.Asp120Asn					DNAH5_uc003jfe.1_RNA	p.D120N	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			4	400	-	Lung NSC(4;0.00476)		120			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.358G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.807772	0.31961	.	.	ENSG00000039139	ENST00000265104	T	0.24151	1.87	5.69	5.69	0.88448	.	0.149737	0.56097	D	0.000022	T	0.32793	0.0841	M	0.72894	2.215	0.58432	D	0.999996	B	0.18863	0.031	B	0.14023	0.01	T	0.09443	-1.0674	10	0.23891	T	0.37	.	19.8162	0.96569	0.0:1.0:0.0:0.0	.	120	Q8TE73	DYH5_HUMAN	N	120	ENSP00000265104:D120N	ENSP00000265104:D120N	D	-	1	0	DNAH5	13976469	1.000000	0.71417	0.993000	0.49108	0.156000	0.22039	7.162000	0.77515	2.681000	0.91329	0.655000	0.94253	GAT		0.458	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		24	303	0	0	0	0	24	303				
MYO10	4651	broad.mit.edu	37	5	16676206	16676206	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:16676206G>A	ENST00000513610.1	-	34	5054	c.4600C>T	c.(4600-4602)Cga>Tga	p.R1534*	MYO10_ENST00000427430.2_Nonsense_Mutation_p.R891*|MYO10_ENST00000505695.1_Nonsense_Mutation_p.R873*|MYO10_ENST00000274203.9_Nonsense_Mutation_p.R891*|MYO10_ENST00000515803.1_Nonsense_Mutation_p.R873*	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1534					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TGGGTGTATCGAAGGATCGGG	0.493																																						uc003jft.3		NA																	0				ovary(2)|pancreas(1)	3						c.(4600-4602)CGA>TGA		myosin X							169.0	183.0	179.0					5																	16676206		1976	4158	6134	SO:0001587	stop_gained	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16676206G>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.4600C>T	5.37:g.16676206G>A	ENSP00000421280:p.Arg1534*					MYO10_uc011cnb.1_Nonsense_Mutation_p.R163*|MYO10_uc011cnc.1_Nonsense_Mutation_p.R413*|MYO10_uc011cnd.1_Nonsense_Mutation_p.R891*|MYO10_uc011cne.1_Nonsense_Mutation_p.R891*|MYO10_uc010itx.2_Nonsense_Mutation_p.R1156*	p.R1534*	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN			34	5068	-			1534					A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Nonsense_Mutation	SNP	ENST00000513610.1	37	c.4600C>T	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	G	47	13.193833	0.99726	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	.	.	.	5.31	4.43	0.53597	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6635	0.77206	0.0:0.0:0.8617:0.1383	.	.	.	.	X	1534;873;891;873;891	.	ENSP00000274203:R891X	R	-	1	2	MYO10	16729206	1.000000	0.71417	0.858000	0.33744	0.588000	0.36517	3.268000	0.51585	1.368000	0.46115	0.563000	0.77884	CGA		0.493	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		19	141	0	0	0	0	19	141				
MTMR12	54545	broad.mit.edu	37	5	32230321	32230321	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:32230321C>G	ENST00000382142.3	-	16	1977	c.1807G>C	c.(1807-1809)Gat>Cat	p.D603H	MTMR12_ENST00000280285.5_Missense_Mutation_p.D549H|MTMR12_ENST00000510216.1_5'UTR|MTMR12_ENST00000264934.5_Missense_Mutation_p.D493H	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	603	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TGGAGCTCATCAGAAGAATTA	0.403																																						uc003jhq.2		NA																	0				ovary(1)	1						c.(1807-1809)GAT>CAT		myotubularin related protein 12							85.0	86.0	85.0					5																	32230321		2203	4300	6503	SO:0001583	missense	54545					cytoplasm	phosphatase activity	g.chr5:32230321C>G	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.1807G>C	5.37:g.32230321C>G	ENSP00000371577:p.Asp603His					MTMR12_uc010iuk.2_Missense_Mutation_p.D549H|MTMR12_uc010iul.2_Missense_Mutation_p.D493H	p.D603H	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN			16	1977	-			603			Myotubularin phosphatase.		Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	37	c.1807G>C	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212925	0.79352	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	T;T;T	0.45276	0.9;0.9;0.9	5.78	5.78	0.91487	Myotubularin phosphatase domain (1);	0.133953	0.50627	D	0.000107	T	0.58977	0.2160	L	0.56769	1.78	0.38124	D	0.937941	D;D;D	0.69078	0.968;0.991;0.997	D;P;D	0.66979	0.948;0.873;0.922	T	0.51787	-0.8661	10	0.10902	T	0.67	.	19.9981	0.97395	0.0:1.0:0.0:0.0	.	493;549;603	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	H	549;603;493	ENSP00000280285:D549H;ENSP00000371577:D603H;ENSP00000264934:D493H	ENSP00000264934:D493H	D	-	1	0	MTMR12	32266078	1.000000	0.71417	0.815000	0.32552	0.946000	0.59487	6.195000	0.72088	2.733000	0.93635	0.561000	0.74099	GAT		0.403	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061		26	155	0	0	0	0	26	155				
TTC23L	153657	broad.mit.edu	37	5	34863022	34863022	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:34863022G>T	ENST00000505624.1	+	5	502	c.399G>T	c.(397-399)aaG>aaT	p.K133N	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	133										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						TTCAGGCCAAGAAACATGCTA	0.478																																						uc003jiu.2		NA																	0				central_nervous_system(1)	1						c.(397-399)AAG>AAT		tetratricopeptide repeat domain 23-like							83.0	80.0	81.0					5																	34863022		1926	4140	6066	SO:0001583	missense	153657						binding	g.chr5:34863022G>T		CCDS54840.1	5p13.2	2008-07-14			ENSG00000205838	ENSG00000205838			26355	protein-coding gene	gene with protein product						12477932	Standard	NM_144725		Approved	FLJ25439	uc003jiu.3	Q6PF05	OTTHUMG00000162020	ENST00000505624.1:c.399G>T	5.37:g.34863022G>T	ENSP00000422188:p.Lys133Asn					TTC23L_uc003jiv.2_5'Flank|TTC23L_uc010iut.1_5'Flank	p.K133N	NM_144725	NP_653326	Q6PF05	TT23L_HUMAN			5	502	+			133					Q6RGS4|Q8N7R3|Q96LJ2	Missense_Mutation	SNP	ENST00000505624.1	37	c.399G>T	CCDS54840.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468697	0.63625	.	.	ENSG00000205838	ENST00000505624;ENST00000535797	T	0.14022	2.54	5.28	4.4	0.53042	.	0.230823	0.36778	N	0.002411	T	0.34395	0.0896	M	0.80746	2.51	0.31052	N	0.715148	D	0.76494	0.999	D	0.68943	0.961	T	0.18745	-1.0327	10	0.31617	T	0.26	-25.8738	11.5547	0.50741	0.0855:0.0:0.9145:0.0	.	133	Q6PF05	TT23L_HUMAN	N	133	ENSP00000422188:K133N	ENSP00000425242:K133N	K	+	3	2	TTC23L	34898779	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	0.986000	0.29590	2.742000	0.94016	0.655000	0.94253	AAG		0.478	TTC23L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366819.1	NM_144725		13	69	1	0	9.31e-06	9.81e-06	13	69				
WDR70	55100	broad.mit.edu	37	5	37725096	37725096	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:37725096A>G	ENST00000265107.4	+	16	1814	c.1658A>G	c.(1657-1659)aAg>aGg	p.K553R		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	553							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGCTGGAGAAGGACAGACTG	0.502																																						uc003jkv.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1657-1659)AAG>AGG		WD repeat domain 70							132.0	131.0	131.0					5																	37725096		2203	4300	6503	SO:0001583	missense	55100							g.chr5:37725096A>G	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.1658A>G	5.37:g.37725096A>G	ENSP00000265107:p.Lys553Arg						p.K553R	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		16	1716	+	all_lung(31;0.000285)		553					Q9H053	Missense_Mutation	SNP	ENST00000265107.4	37	c.1658A>G	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.625591	0.87560	.	.	ENSG00000082068	ENST00000265107	T	0.70986	-0.53	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.81870	0.4914	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.66084	0.941	T	0.81553	-0.0880	10	0.42905	T	0.14	-35.1976	16.4323	0.83853	1.0:0.0:0.0:0.0	.	553	Q9NW82	WDR70_HUMAN	R	553	ENSP00000265107:K553R	ENSP00000265107:K553R	K	+	2	0	WDR70	37760853	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.631000	0.90991	2.281000	0.76405	0.528000	0.53228	AAG		0.502	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		119	103	0	0	0	0	119	103				
EGFLAM	133584	broad.mit.edu	37	5	38451422	38451422	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:38451422C>G	ENST00000354891.3	+	20	2919	c.2573C>G	c.(2572-2574)tCa>tGa	p.S858*	EGFLAM_ENST00000336740.6_Nonsense_Mutation_p.S616*|EGFLAM_ENST00000514476.1_5'UTR|EGFLAM_ENST00000397210.3_5'UTR|EGFLAM_ENST00000506135.1_5'UTR|EGFLAM_ENST00000397202.2_Nonsense_Mutation_p.S216*|EGFLAM_ENST00000322350.5_Nonsense_Mutation_p.S850*	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	858	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TCCAGGGTGTCAGGATCAAGA	0.478																																					Colon(62;485 1295 3347 17454)	uc003jlc.1		NA																	0				pancreas(3)|skin(3)|ovary(1)	7						c.(2572-2574)TCA>TGA		EGF-like, fibronectin type III and laminin G							228.0	209.0	215.0					5																	38451422		2203	4300	6503	SO:0001587	stop_gained	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38451422C>G	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2573C>G	5.37:g.38451422C>G	ENSP00000346964:p.Ser858*					EGFLAM_uc003jlb.1_Nonsense_Mutation_p.S850*|EGFLAM_uc003jle.1_Nonsense_Mutation_p.S616*|EGFLAM_uc003jlf.1_Nonsense_Mutation_p.S216*|EGFLAM_uc003jlg.1_5'UTR	p.S858*	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN			20	2897	+	all_lung(31;0.000385)		858			Laminin G-like 3.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Nonsense_Mutation	SNP	ENST00000354891.3	37	c.2573C>G	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	C	42	9.684513	0.99238	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-0.381	19.6308	0.95700	0.0:1.0:0.0:0.0	.	.	.	.	X	858;850;616;216;616	.	ENSP00000313084:S850X	S	+	2	0	EGFLAM	38487179	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	7.422000	0.80217	2.729000	0.93468	0.650000	0.86243	TCA		0.478	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		38	297	0	0	0	0	38	297				
RICTOR	253260	broad.mit.edu	37	5	38991111	38991111	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:38991111C>G	ENST00000357387.3	-	7	553	c.523G>C	c.(523-525)Gat>Cat	p.D175H	RICTOR_ENST00000296782.5_Missense_Mutation_p.D175H	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TGAAGTCCATCATTTCCAACT	0.353																																						uc003jlp.2		NA																	0				ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10						c.(523-525)GAT>CAT		rapamycin-insensitive companion of mTOR							102.0	91.0	95.0					5																	38991111		2203	4299	6502	SO:0001583	missense	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38991111C>G		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.523G>C	5.37:g.38991111C>G	ENSP00000349959:p.Asp175His					RICTOR_uc003jlo.2_Missense_Mutation_p.D175H|RICTOR_uc010ivf.2_5'UTR|RICTOR_uc003jlq.1_Missense_Mutation_p.D159H|RICTOR_uc011cpk.1_Missense_Mutation_p.D175H	p.D175H	NM_152756	NP_689969	Q6R327	RICTR_HUMAN			7	547	-	all_lung(31;0.000396)		175						Missense_Mutation	SNP	ENST00000357387.3	37	c.523G>C	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694648	0.88830	.	.	ENSG00000164327	ENST00000357387;ENST00000296782;ENST00000514735	T;T;T	0.65549	-0.16;-0.16;-0.16	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70988	0.3287	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.971;0.984;0.998	T	0.74940	-0.3493	10	0.87932	D	0	-16.8411	19.1218	0.93365	0.0:1.0:0.0:0.0	.	175;175;175;175	Q8N6M7;E7ETT0;Q6R327;Q6R327-3	.;.;RICTR_HUMAN;.	H	175;175;159	ENSP00000349959:D175H;ENSP00000296782:D175H;ENSP00000423162:D159H	ENSP00000296782:D175H	D	-	1	0	RICTOR	39026868	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	2.505000	0.84491	0.591000	0.81541	GAT		0.353	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		4	99	0	0	0	0	4	99				
PAIP1	10605	broad.mit.edu	37	5	43527498	43527498	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:43527498C>G	ENST00000306846.3	-	11	1652	c.1420G>C	c.(1420-1422)Gag>Cag	p.E474Q	PAIP1_ENST00000436644.2_Missense_Mutation_p.E395Q|RP11-159F24.5_ENST00000504277.1_RNA|PAIP1_ENST00000514514.1_3'UTR|PAIP1_ENST00000338972.4_Missense_Mutation_p.E362Q	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	474	PABPC1-interacting motif-1 (PAM1).				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					CGCTTACGCTCTGATTCCAAA	0.338																																						uc003job.2		NA																	0				ovary(1)	1						c.(1420-1422)GAG>CAG		poly(A) binding protein interacting protein 1							65.0	60.0	62.0					5																	43527498		2202	4289	6491	SO:0001583	missense	10605				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity	g.chr5:43527498C>G	AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.1420G>C	5.37:g.43527498C>G	ENSP00000302768:p.Glu474Gln					PAIP1_uc003joa.2_Missense_Mutation_p.E395Q|PAIP1_uc010ivp.2_3'UTR|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Missense_Mutation_p.E362Q	p.E474Q	NM_006451	NP_006442	Q9H074	PAIP1_HUMAN			11	1667	-	Lung NSC(6;2.07e-05)		474			PABPC1-interacting motif-1 (PAM1).		A6NKV8|O60455|Q96B61|Q9BS63	Missense_Mutation	SNP	ENST00000306846.3	37	c.1420G>C	CCDS3947.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094561	0.76870	.	.	ENSG00000172239	ENST00000306846;ENST00000436644;ENST00000338972	T;T;T	0.38722	1.12;1.2;1.24	5.61	5.61	0.85477	.	0.057678	0.64402	D	0.000002	T	0.52075	0.1712	L	0.38531	1.155	0.80722	D	1	D;D	0.61697	0.99;0.965	P;P	0.57204	0.815;0.786	T	0.49890	-0.8891	10	0.52906	T	0.07	-13.7702	19.6383	0.95746	0.0:1.0:0.0:0.0	.	474;395	Q9H074;Q9H074-2	PAIP1_HUMAN;.	Q	474;395;362	ENSP00000302768:E474Q;ENSP00000387729:E395Q;ENSP00000339622:E362Q	ENSP00000302768:E474Q	E	-	1	0	PAIP1	43563255	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.053000	0.76641	2.631000	0.89168	0.655000	0.94253	GAG		0.338	PAIP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214024.1	NM_006451		8	79	0	0	0	0	8	79				
PAIP1	10605	broad.mit.edu	37	5	43527528	43527528	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:43527528C>G	ENST00000306846.3	-	11	1622	c.1390G>C	c.(1390-1392)Gaa>Caa	p.E464Q	PAIP1_ENST00000436644.2_Missense_Mutation_p.E385Q|RP11-159F24.5_ENST00000504277.1_RNA|PAIP1_ENST00000514514.1_3'UTR|PAIP1_ENST00000338972.4_Missense_Mutation_p.E352Q	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	464	PABPC1-interacting motif-1 (PAM1).				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					TCATAAGCTTCTTCTATCTCT	0.328																																						uc003job.2		NA																	0				ovary(1)	1						c.(1390-1392)GAA>CAA		poly(A) binding protein interacting protein 1							72.0	68.0	69.0					5																	43527528		2201	4296	6497	SO:0001583	missense	10605				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity	g.chr5:43527528C>G	AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.1390G>C	5.37:g.43527528C>G	ENSP00000302768:p.Glu464Gln					PAIP1_uc003joa.2_Missense_Mutation_p.E385Q|PAIP1_uc010ivp.2_3'UTR|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Missense_Mutation_p.E352Q	p.E464Q	NM_006451	NP_006442	Q9H074	PAIP1_HUMAN			11	1637	-	Lung NSC(6;2.07e-05)		464			PABPC1-interacting motif-1 (PAM1).		A6NKV8|O60455|Q96B61|Q9BS63	Missense_Mutation	SNP	ENST00000306846.3	37	c.1390G>C	CCDS3947.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112701	0.77210	.	.	ENSG00000172239	ENST00000306846;ENST00000436644;ENST00000338972	T;T;T	0.35421	1.31;1.35;1.38	5.61	5.61	0.85477	.	0.058392	0.64402	D	0.000002	T	0.55545	0.1927	L	0.50333	1.59	0.80722	D	1	D;D	0.76494	0.999;0.999	P;D	0.66351	0.879;0.943	T	0.53251	-0.8465	10	0.54805	T	0.06	-14.8092	19.6383	0.95746	0.0:1.0:0.0:0.0	.	464;385	Q9H074;Q9H074-2	PAIP1_HUMAN;.	Q	464;385;352	ENSP00000302768:E464Q;ENSP00000387729:E385Q;ENSP00000339622:E352Q	ENSP00000302768:E464Q	E	-	1	0	PAIP1	43563285	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.053000	0.76641	2.631000	0.89168	0.655000	0.94253	GAA		0.328	PAIP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214024.1	NM_006451		11	81	0	0	0	0	11	81				
PRR16	51334	broad.mit.edu	37	5	120022237	120022237	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:120022237C>A	ENST00000407149.2	+	2	957	c.748C>A	c.(748-750)Ccc>Acc	p.P250T	PRR16_ENST00000505123.1_Missense_Mutation_p.P180T|PRR16_ENST00000379551.2_Missense_Mutation_p.P227T|PRR16_ENST00000446965.1_Missense_Mutation_p.P180T			Q569H4	LARGN_HUMAN	proline rich 16	250	Pro-rich.				positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)					endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		CCAAGGCCCTCCCCTCCCTCC	0.522																																						uc003ksq.2		NA																	0				pancreas(2)|ovary(1)	3						c.(748-750)CCC>ACC		proline rich 16							89.0	83.0	85.0					5																	120022237		2203	4300	6503	SO:0001583	missense	51334							g.chr5:120022237C>A	AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.748C>A	5.37:g.120022237C>A	ENSP00000385118:p.Pro250Thr					PRR16_uc003ksp.2_Missense_Mutation_p.P227T|PRR16_uc003ksr.2_Missense_Mutation_p.P180T	p.P250T	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)	2	911	+		all_cancers(142;0.0464)|Prostate(80;0.00446)	250			Pro-rich.		D3DSZ0|Q8IXY1|Q9NYI5	Missense_Mutation	SNP	ENST00000407149.2	37	c.748C>A		.	.	.	.	.	.	.	.	.	.	C	0.674	-0.800760	0.02841	.	.	ENSG00000184838	ENST00000407149;ENST00000379551;ENST00000505123;ENST00000446965	T;T;T;T	0.47528	0.88;0.85;0.84;0.84	4.99	2.15	0.27550	.	0.436673	0.25086	N	0.033247	T	0.34513	0.0900	L	0.41236	1.265	0.25865	N	0.983771	B;B	0.09022	0.0;0.002	B;B	0.10450	0.002;0.005	T	0.20273	-1.0280	9	.	.	.	0.0251	8.9038	0.35510	0.2763:0.4556:0.2681:0.0	.	250;227	Q569H4;Q569H4-3	PRR16_HUMAN;.	T	250;227;180;180	ENSP00000385118:P250T;ENSP00000368869:P227T;ENSP00000423446:P180T;ENSP00000405491:P180T	.	P	+	1	0	PRR16	120050136	0.015000	0.18098	0.226000	0.23910	0.906000	0.53458	0.408000	0.21065	0.128000	0.18479	0.650000	0.86243	CCC		0.522	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	NM_016644		19	16	1	0	2.46e-09	2.63e-09	19	16				
FBN2	2201	broad.mit.edu	37	5	127645021	127645021	+	Silent	SNP	C	C	G	rs377646791		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:127645021C>G	ENST00000508053.1	-	47	6245	c.5271G>C	c.(5269-5271)gtG>gtC	p.V1757V	FBN2_ENST00000262464.4_Silent_p.V1757V			P35556	FBN2_HUMAN	fibrillin 2	1757	TB 7.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCCTTTTTGTCACATTGAAAG	0.428																																						uc003kuu.2		NA																	0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(5269-5271)GTG>GTC		fibrillin 2 precursor							161.0	135.0	144.0					5																	127645021		2203	4300	6503	SO:0001819	synonymous_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127645021C>G	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.5271G>C	5.37:g.127645021C>G							p.V1757V	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	41	5710	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1757			TB 7.		B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.5271G>C	CCDS34222.1																																																																																				0.428	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		4	48	0	0	0	0	4	48				
KDM3B	51780	broad.mit.edu	37	5	137735696	137735696	+	Missense_Mutation	SNP	G	G	A	rs368195001		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:137735696G>A	ENST00000314358.5	+	11	3394	c.3194G>A	c.(3193-3195)cGc>cAc	p.R1065H	KDM3B_ENST00000542866.1_Missense_Mutation_p.R97H|KDM3B_ENST00000394866.1_Missense_Mutation_p.R721H	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1065					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AGCCGGCCACGCAGTGGTAAG	0.478													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19272	0.0		0.0	False		,,,				2504	0.0					uc003lcy.1		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						c.(3193-3195)CGC>CAC		jumonji domain containing 1B		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	146.0	124.0	132.0		3194	5.3	1.0	5		132	0,8600		0,0,4300	no	missense	KDM3B	NM_016604.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	1065/1762	137735696	1,13005	2203	4300	6503	SO:0001583	missense	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137735696G>A	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.3194G>A	5.37:g.137735696G>A	ENSP00000326563:p.Arg1065His					KDM3B_uc010jew.1_Missense_Mutation_p.R721H|KDM3B_uc011cys.1_Missense_Mutation_p.R97H	p.R1065H	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN			11	3394	+			1065					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	c.3194G>A	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949700	0.73787	2.27E-4	0.0	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	T;T;T	0.72051	-0.04;-0.62;-0.54	5.34	5.34	0.76211	.	0.049944	0.85682	D	0.000000	T	0.82181	0.4981	L	0.56769	1.78	0.58432	D	0.99999	D;D	0.89917	1.0;0.966	D;B	0.71414	0.973;0.369	T	0.83261	-0.0048	10	0.62326	D	0.03	-17.221	19.0304	0.92953	0.0:0.0:1.0:0.0	.	721;1065	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	H	1065;855;721;97	ENSP00000326563:R1065H;ENSP00000378335:R721H;ENSP00000439462:R97H	ENSP00000326563:R1065H	R	+	2	0	KDM3B	137763595	1.000000	0.71417	0.994000	0.49952	0.771000	0.43674	4.443000	0.59994	2.485000	0.83878	0.655000	0.94253	CGC		0.478	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		4	61	0	0	0	0	4	61				
PCDHB7	56129	broad.mit.edu	37	5	140554059	140554059	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:140554059G>A	ENST00000231137.3	+	1	1817	c.1643G>A	c.(1642-1644)cGc>cAc	p.R548H		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	548	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(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGCTGGTGCGCGTGCTGGTG	0.726																																						uc003lit.2		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1642-1644)CGC>CAC		protocadherin beta 7 precursor							31.0	35.0	34.0					5																	140554059		2199	4295	6494	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554059G>A	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1643G>A	5.37:g.140554059G>A	ENSP00000231137:p.Arg548His						p.R548H	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1817	+			548			Extracellular (Potential).|Cadherin 5.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.1643G>A	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	g	11.62	1.694290	0.30052	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.01767	4.65	4.02	1.14	0.20703	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.02970	0.0088	N	0.20357	0.565	0.22629	N	0.998919	D	0.64830	0.994	P	0.62184	0.899	T	0.49969	-0.8882	9	0.62326	D	0.03	.	4.8665	0.13611	0.338:0.0:0.5182:0.1438	.	548	Q9Y5E2	PCDB7_HUMAN	H	548;331	ENSP00000231137:R548H	ENSP00000231137:R548H	R	+	2	0	PCDHB7	140534243	0.000000	0.05858	0.990000	0.47175	0.856000	0.48823	-0.429000	0.06982	0.301000	0.22738	-0.384000	0.06662	CGC		0.726	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		50	29	0	0	0	0	50	29				
PCDHGA4	56111	broad.mit.edu	37	5	140737171	140737171	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:140737171G>C	ENST00000571252.1	+	1	2404	c.2404G>C	c.(2404-2406)Gga>Cga	p.G802R	PCDHGB2_ENST00000522605.1_5'Flank|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	802					homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAACAAAAGGAGACCCTAA	0.393																																						uc003ljq.1		NA																	0					0						c.(2404-2406)GGA>CGA		protocadherin gamma subfamily A, 4 isoform 1							46.0	51.0	49.0					5																	140737171		2127	4252	6379	SO:0001583	missense	56111				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140737171G>C	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.2404G>C	5.37:g.140737171G>C	ENSP00000458570:p.Gly802Arg					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGB2_uc003ljs.1_5'Flank|PCDHGA4_uc003ljp.1_Missense_Mutation_p.G802R|PCDHGB2_uc011dar.1_5'Flank	p.G802R	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2404	+			802			Cytoplasmic (Potential).		Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	c.2404G>C	CCDS58979.1																																																																																				0.393	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		11	26	0	0	0	0	11	26				
CYFIP2	26999	broad.mit.edu	37	5	156751060	156751060	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:156751060C>T	ENST00000521420.1	+	15	1816	c.1725C>T	c.(1723-1725)ttC>ttT	p.F575F	CYFIP2_ENST00000520960.1_3'UTR|CYFIP2_ENST00000347377.6_Silent_p.F601F|CYFIP2_ENST00000377576.3_Silent_p.F601F|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000541131.1_Silent_p.F526F|CYFIP2_ENST00000435847.2_Silent_p.F300F|CYFIP2_ENST00000522463.1_Silent_p.F405F|CYFIP2_ENST00000318218.6_Silent_p.F626F					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTTCTTCTTCACACATCTGC	0.547																																						uc003lwq.2		NA																	0					0						c.(1801-1803)TTC>TTT		cytoplasmic FMR1 interacting protein 2							86.0	83.0	84.0					5																	156751060		2013	4175	6188	SO:0001819	synonymous_variant	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156751060C>T	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1725C>T	5.37:g.156751060C>T						CYFIP2_uc011ddn.1_Silent_p.F575F|CYFIP2_uc011ddo.1_Silent_p.F405F|CYFIP2_uc003lwr.2_Silent_p.F601F|CYFIP2_uc003lws.2_Silent_p.F601F|CYFIP2_uc003lwt.2_Silent_p.F504F|CYFIP2_uc011ddp.1_Silent_p.F335F	p.F601F	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		18	1941	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	626						Silent	SNP	ENST00000521420.1	37	c.1803C>T																																																																																					0.547	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		18	7	0	0	0	0	18	7				
ATP10B	23120	broad.mit.edu	37	5	159992488	159992488	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:159992488C>T	ENST00000327245.5	-	26	5204	c.4358G>A	c.(4357-4359)cGc>cAc	p.R1453H		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1453					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGGGATCGGCGATGGCTGCT	0.532																																						uc003lym.1		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(4357-4359)CGC>CAC		ATPase, class V, type 10B							133.0	129.0	130.0					5																	159992488		2033	4196	6229	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:159992488C>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.4358G>A	5.37:g.159992488C>T	ENSP00000313600:p.Arg1453His					ATP10B_uc010jit.1_Missense_Mutation_p.R703H	p.R1453H	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		26	5205	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	1453			Cytoplasmic (Potential).		Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.4358G>A	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036140	0.75617	.	.	ENSG00000118322	ENST00000327245	T	0.47177	0.85	5.46	3.64	0.41730	.	0.247806	0.28219	N	0.016152	T	0.42899	0.1223	L	0.56769	1.78	0.26146	N	0.980209	D	0.57257	0.979	P	0.44477	0.451	T	0.38757	-0.9646	9	.	.	.	.	7.286	0.26340	0.166:0.7459:0.0:0.0881	.	1453	O94823	AT10B_HUMAN	H	1453	ENSP00000313600:R1453H	.	R	-	2	0	ATP10B	159925066	0.999000	0.42202	1.000000	0.80357	0.979000	0.70002	1.227000	0.32576	1.275000	0.44379	0.563000	0.77884	CGC		0.532	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		29	66	0	0	0	0	29	66				
GABRG2	2566	broad.mit.edu	37	5	161569304	161569304	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:161569304C>A	ENST00000361925.4	+	7	1124	c.904C>A	c.(904-906)Cca>Aca	p.P302T	GABRG2_ENST00000356592.3_Missense_Mutation_p.P302T|GABRG2_ENST00000414552.2_Missense_Mutation_p.P342T|GABRG2_ENST00000393933.4_Missense_Mutation_p.P207T			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	302					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGATGCTGTTCCAGCCAGAAC	0.403																																						uc003lyz.3		NA																	0				ovary(4)|skin(1)	5						c.(904-906)CCA>ACA		gamma-aminobutyric acid A receptor, gamma 2							203.0	172.0	182.0					5																	161569304		2203	4300	6503	SO:0001583	missense	2566				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161569304C>A		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.904C>A	5.37:g.161569304C>A	ENSP00000354651:p.Pro302Thr					GABRG2_uc010jjc.2_Missense_Mutation_p.P342T|GABRG2_uc003lyy.3_Missense_Mutation_p.P302T|GABRG2_uc011dej.1_Missense_Mutation_p.P207T	p.P302T	NM_000816	NP_000807	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	7	1262	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	302			Helical; (Probable).		F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	c.904C>A	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769013	0.90020	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933;ENST00000522053	D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47	5.75	5.75	0.90469	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.95294	0.8473	M	0.84846	2.72	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.80764	0.994;0.993;0.988	D	0.95365	0.8459	10	0.87932	D	0	.	19.9447	0.97177	0.0:1.0:0.0:0.0	.	342;302;302	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	T	302;342;302;207;207	ENSP00000349000:P302T;ENSP00000410732:P342T;ENSP00000354651:P302T;ENSP00000377510:P207T;ENSP00000430182:P207T	ENSP00000349000:P302T	P	+	1	0	GABRG2	161501882	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.726000	0.84824	2.719000	0.93026	0.655000	0.94253	CCA		0.403	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			64	22	1	0	7.59e-32	8.29e-32	64	22				
DOCK2	1794	broad.mit.edu	37	5	169454870	169454870	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr5:169454870G>C	ENST00000256935.8	+	34	3465	c.3385G>C	c.(3385-3387)Gaa>Caa	p.E1129Q	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.E190Q|DOCK2_ENST00000520908.1_Missense_Mutation_p.E621Q|MIR378E_ENST00000581976.1_RNA	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1129	Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTTCAGTTTGAAAACGAAAT	0.458																																						uc003maf.2		NA																	0				ovary(5)|pancreas(2)	7						c.(3385-3387)GAA>CAA		dedicator of cytokinesis 2							95.0	89.0	91.0					5																	169454870		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169454870G>C	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3385G>C	5.37:g.169454870G>C	ENSP00000256935:p.Glu1129Gln					DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.E621Q	p.E1129Q	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		34	3465	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1129			DHR-2.|Interaction with CRKL.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.3385G>C	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.041519	0.93685	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.29655	1.56;1.56;1.56	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.53012	0.1770	M	0.76727	2.345	0.52501	D	0.999955	D;P	0.62365	0.991;0.919	P;B	0.58331	0.837;0.401	T	0.53774	-0.8391	10	0.45353	T	0.12	.	18.8352	0.92159	0.0:0.0:1.0:0.0	.	621;1129	E7ERW7;Q92608	.;DOCK2_HUMAN	Q	1129;621;190	ENSP00000256935:E1129Q;ENSP00000429283:E621Q;ENSP00000438827:E190Q	ENSP00000256935:E1129Q	E	+	1	0	DOCK2	169387448	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	9.438000	0.97539	2.455000	0.83008	0.555000	0.69702	GAA		0.458	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		15	43	0	0	0	0	15	43				
HIVEP1	3096	broad.mit.edu	37	6	12120396	12120396	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:12120396C>G	ENST00000379388.2	+	4	700	c.368C>G	c.(367-369)tCa>tGa	p.S123*		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	123					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCTGAAGCCTCAAAATCTGAA	0.433																																						uc003nac.2		NA																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(367-369)TCA>TGA		human immunodeficiency virus type I enhancer							84.0	82.0	82.0					6																	12120396		1871	4119	5990	SO:0001587	stop_gained	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12120396C>G	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.368C>G	6.37:g.12120396C>G	ENSP00000368698:p.Ser123*					HIVEP1_uc011diq.1_RNA	p.S123*	NM_002114	NP_002105	P15822	ZEP1_HUMAN			4	547	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	123					B2RTU3|Q14122|Q5MPB1|Q5VW60	Nonsense_Mutation	SNP	ENST00000379388.2	37	c.368C>G	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	4.381	0.070381	0.08436	.	.	ENSG00000095951	ENST00000487103;ENST00000379388;ENST00000478545	.	.	.	5.57	5.57	0.84162	.	1.412690	0.05081	N	0.483518	.	.	.	.	.	.	0.20926	N	0.999828	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.0223	10.0748	0.42353	0.0:0.8507:0.0:0.1493	.	.	.	.	X	123	.	.	S	+	2	0	HIVEP1	12228382	0.006000	0.16342	0.006000	0.13384	0.222000	0.24845	2.164000	0.42387	2.611000	0.88343	0.655000	0.94253	TCA		0.433	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		25	54	0	0	0	0	25	54				
ACOT13	55856	broad.mit.edu	37	6	24698242	24698242	+	Silent	SNP	T	T	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:24698242T>C	ENST00000230048.4	+	2	406	c.213T>C	c.(211-213)gcT>gcC	p.A71A	ACOT13_ENST00000476436.1_3'UTR|RP1-30M3.5_ENST00000607014.1_RNA|ACOT13_ENST00000537591.1_Silent_p.A48A	NM_018473.3	NP_060943.1	Q9NPJ3	ACO13_HUMAN	acyl-CoA thioesterase 13	71					metabolic process (GO:0008152)|protein homotetramerization (GO:0051289)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA hydrolase activity (GO:0047617)			large_intestine(1)	1						CAACAATGGCTCTGCTATGCA	0.438																																						uc003nek.2		NA																	0					0						c.(211-213)GCT>GCC		acyl-CoA thioesterase 13 isoform 1							109.0	91.0	97.0					6																	24698242		2203	4300	6503	SO:0001819	synonymous_variant	55856				protein homotetramerization	mitochondrion	acyl-CoA thioesterase activity	g.chr6:24698242T>C	AF220186	CCDS4558.1, CCDS54972.1	6p22.1	2009-11-20	2009-05-05	2009-05-05	ENSG00000112304	ENSG00000112304		"""Acyl CoA thioesterases"""	20999	protein-coding gene	gene with protein product		615652	"""thioesterase superfamily member 2"""	THEM2		16934754, 19405909	Standard	NM_018473		Approved	HT012	uc003nek.3	Q9NPJ3	OTTHUMG00000014359	ENST00000230048.4:c.213T>C	6.37:g.24698242T>C						ACOT13_uc010jpv.2_Silent_p.A48A	p.A71A	NM_018473	NP_060943	Q9NPJ3	ACO13_HUMAN			2	442	+			71					F5H2L4|O95549	Silent	SNP	ENST00000230048.4	37	c.213T>C	CCDS4558.1																																																																																				0.438	ACOT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040010.2	NM_018473		15	41	0	0	0	0	15	41				
HIST1H3E	8353	broad.mit.edu	37	6	26225674	26225674	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:26225674G>A	ENST00000360408.1	+	1	292	c.292G>A	c.(292-294)Gag>Aag	p.E98K		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	98					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				GGAGGCCTGCGAGGCCTACTT	0.592											OREG0017240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003nhb.2		NA																	0					0						c.(292-294)GAG>AAG		histone cluster 1, H3f							81.0	81.0	81.0					6																	26225674		2203	4300	6503	SO:0001583	missense	8353				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26225674G>A	M60746	CCDS4596.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196966	ENSG00000274750		"""Histones / Replication-dependent"""	4769	protein-coding gene	gene with protein product		602813	"""H3 histone family, member D"", ""histone 1, H3e"""	H3FD		1916825, 12408966	Standard	NM_003532		Approved	H3/d, H3.1	uc003nhc.4	P68431	OTTHUMG00000014434	ENST00000360408.1:c.292G>A	6.37:g.26225674G>A	ENSP00000353581:p.Glu98Lys		OREG0017240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	785	HIST1H3E_uc003nhc.3_Missense_Mutation_p.E98K	p.E98K	NM_021018	NP_066298	P68431	H31_HUMAN			2	652	+		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)	98					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000360408.1	37	c.292G>A	CCDS4596.1	.	.	.	.	.	.	.	.	.	.	.	18.62	3.662846	0.67700	.	.	ENSG00000196966	ENST00000360408	T	0.77489	-1.1	4.54	4.54	0.55810	.	.	.	.	.	D	0.83663	0.5303	.	.	.	0.44627	D	0.997605	.	.	.	.	.	.	D	0.85860	0.1409	6	0.87932	D	0	.	16.8198	0.85743	0.0:0.0:1.0:0.0	.	.	.	.	K	98	ENSP00000353581:E98K	ENSP00000353581:E98K	E	+	1	0	HIST1H3E	26333653	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	9.641000	0.98458	2.541000	0.85698	0.491000	0.48974	GAG		0.592	HIST1H3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040097.1	NM_003532		16	42	0	0	0	0	16	42				
GABBR1	2550	broad.mit.edu	37	6	29588923	29588923	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:29588923C>G	ENST00000377034.4	-	11	1613	c.1278G>C	c.(1276-1278)gaG>gaC	p.E426D	GABBR1_ENST00000377012.4_Missense_Mutation_p.E309D|GABBR1_ENST00000376977.3_Missense_Mutation_p.E426D|GABBR1_ENST00000355973.3_Missense_Mutation_p.E309D|GABBR1_ENST00000377016.4_Missense_Mutation_p.E364D	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	426					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	GCATGACAATCTCAGTTGTGA	0.532																																						uc003nmt.3		NA																	0				ovary(5)|liver(1)|skin(1)	7						c.(1276-1278)GAG>GAC		gamma-aminobutyric acid (GABA) B receptor 1	Baclofen(DB00181)|Progabide(DB00837)						147.0	113.0	125.0					6																	29588923		1511	2709	4220	SO:0001583	missense	2550				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29588923C>G	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.1278G>C	6.37:g.29588923C>G	ENSP00000366233:p.Glu426Asp					GABBR1_uc003nmp.3_Missense_Mutation_p.E309D|GABBR1_uc003nms.3_Missense_Mutation_p.E309D|GABBR1_uc003nmu.3_Missense_Mutation_p.E364D|GABBR1_uc011dlr.1_Missense_Mutation_p.E249D|GABBR1_uc011dls.1_Missense_Mutation_p.E426D	p.E426D	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN			11	1614	-			426			Extracellular (Potential).		B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	ENST00000377034.4	37	c.1278G>C	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	c	16.99	3.274025	0.59649	.	.	ENSG00000204681	ENST00000355973;ENST00000376977;ENST00000377016;ENST00000377012;ENST00000377034	T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72	5.64	5.64	0.86602	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.67970	0.2950	L	0.42245	1.32	0.58432	D	0.999999	B;P;D;D	0.71674	0.328;0.934;0.998;0.998	B;P;D;D	0.80764	0.294;0.605;0.994;0.994	T	0.64558	-0.6379	10	0.18710	T	0.47	-3.9694	10.6126	0.45432	0.0:0.9132:0.0:0.0868	.	426;364;426;309	Q9UBS5-5;Q9UBS5-3;Q9UBS5;Q5SUJ9	.;.;GABR1_HUMAN;.	D	309;426;364;309;426	ENSP00000348248:E309D;ENSP00000366176:E426D;ENSP00000366215:E364D;ENSP00000366211:E309D;ENSP00000366233:E426D	ENSP00000348248:E309D	E	-	3	2	GABBR1	29696902	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.703000	0.54808	2.684000	0.91462	0.639000	0.83563	GAG		0.532	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			11	28	0	0	0	0	11	28				
VARS	7407	broad.mit.edu	37	6	31750118	31750118	+	Silent	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:31750118G>C	ENST00000375663.3	-	17	2534	c.2094C>G	c.(2092-2094)ctC>ctG	p.L698L	VARS_ENST00000482996.1_5'Flank|VARS_ENST00000444930.2_3'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	698					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GCAGGATGCGGAGGTCACCCC	0.667																																						uc003nxe.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(2092-2094)CTC>CTG		valyl-tRNA synthetase	L-Valine(DB00161)						33.0	29.0	31.0					6																	31750118		1511	2708	4219	SO:0001819	synonymous_variant	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31750118G>C	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.2094C>G	6.37:g.31750118G>C						VARS_uc003nxf.1_5'Flank|VARS_uc011doi.1_RNA	p.L698L	NM_006295	NP_006286	P26640	SYVC_HUMAN			17	2517	-			698					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Silent	SNP	ENST00000375663.3	37	c.2094C>G	CCDS34412.1																																																																																				0.667	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		6	15	0	0	0	0	6	15				
VARS	7407	broad.mit.edu	37	6	31759748	31759748	+	Splice_Site	SNP	T	T	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:31759748T>G	ENST00000375663.3	-	7	1312	c.872A>C	c.(871-873)gAt>gCt	p.D291A	VARS_ENST00000444930.2_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	291					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GCCACTGACATCTGGGGGAGA	0.622																																						uc003nxe.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(871-873)GAT>GCT		valyl-tRNA synthetase	L-Valine(DB00161)						22.0	18.0	19.0					6																	31759748		1509	2709	4218	SO:0001630	splice_region_variant	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31759748T>G	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.872-1A>C	6.37:g.31759748T>G						VARS_uc011doi.1_RNA	p.D291A	NM_006295	NP_006286	P26640	SYVC_HUMAN			7	1295	-			291					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	37	c.872A>C	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.383953	0.82792	.	.	ENSG00000204394	ENST00000375663	T	0.04406	3.63	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.15089	0.0364	M	0.85462	2.755	0.80722	D	1	D	0.76494	0.999	D	0.66979	0.948	T	0.00688	-1.1609	10	0.72032	D	0.01	.	13.4728	0.61290	0.0:0.0:0.0:1.0	.	291	P26640	SYVC_HUMAN	A	291	ENSP00000364815:D291A	ENSP00000364815:D291A	D	-	2	0	VARS	31867727	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	7.097000	0.76967	2.081000	0.62600	0.378000	0.23410	GAT		0.622	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295	Missense_Mutation	3	6	0	0	0	0	3	6				
ATF6B	1388	broad.mit.edu	37	6	32087660	32087660	+	Missense_Mutation	SNP	C	C	T	rs377717271		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:32087660C>T	ENST00000375203.3	-	9	939	c.907G>A	c.(907-909)Gag>Aag	p.E303K	ATF6B_ENST00000375201.4_Missense_Mutation_p.E300K	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	303					response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						CTCTTCCTCTCAGGCCGTGGT	0.592																																						uc003nzn.2		NA																	0					0						c.(907-909)GAG>AAG		activating transcription factor 6 beta isoform		C	LYS/GLU,LYS/GLU	0,4406		0,0,2203	92.0	77.0	82.0		898,907	5.0	1.0	6		82	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ATF6B	NM_001136153.1,NM_004381.4	56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	300/701,303/704	32087660	1,13005	2203	4300	6503	SO:0001583	missense	1388				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:32087660C>T		CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"""basic leucine zipper proteins"""	2349	protein-coding gene	gene with protein product		600984	"""cAMP responsive element binding protein-like 1"""	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.907G>A	6.37:g.32087660C>T	ENSP00000364349:p.Glu303Lys					TNXB_uc010jts.1_5'Flank|ATF6B_uc003nzm.1_5'Flank|ATF6B_uc003nzo.2_Missense_Mutation_p.E300K|ATF6B_uc003nzp.1_5'UTR	p.E303K	NM_004381	NP_004372	Q99941	ATF6B_HUMAN			9	940	-			303			Cytoplasmic (Potential).		B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Missense_Mutation	SNP	ENST00000375203.3	37	c.907G>A	CCDS4737.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270537	0.59540	0.0	1.16E-4	ENSG00000213676	ENST00000375203;ENST00000375201	T;T	0.57595	0.39;1.13	5.0	5.0	0.66597	.	0.255716	0.24530	U	0.037735	T	0.30166	0.0756	L	0.27053	0.805	0.35965	D	0.834874	P;P	0.42692	0.787;0.546	B;B	0.42771	0.397;0.133	T	0.10776	-1.0615	10	0.27082	T	0.32	-15.4489	15.8605	0.79017	0.0:1.0:0.0:0.0	.	300;303	Q99941-2;Q99941	.;ATF6B_HUMAN	K	303;300	ENSP00000364349:E303K;ENSP00000364347:E300K	ENSP00000364347:E300K	E	-	1	0	ATF6B	32195638	0.995000	0.38212	1.000000	0.80357	0.935000	0.57460	4.152000	0.58111	2.334000	0.79466	0.558000	0.71614	GAG		0.592	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2			13	33	0	0	0	0	13	33				
DNAH8	1769	broad.mit.edu	37	6	38830055	38830055	+	Splice_Site	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:38830055G>A	ENST00000359357.3	+	42	5734		c.e42-1		DNAH8_ENST00000441566.1_Splice_Site|DNAH8_ENST00000449981.2_Splice_Site			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8						cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AACATTTGCAGATGCTATATC	0.463																																						uc003ooe.1		NA																	0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.e42-1		dynein, axonemal, heavy polypeptide 8							98.0	91.0	94.0					6																	38830055		2203	4300	6503	SO:0001630	splice_region_variant	1769							g.chr6:38830055G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.5481-1G>A	6.37:g.38830055G>A							p.R1827_splice	NM_001371	NP_001362					42	6081	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Splice_Site	SNP	ENST00000359357.3	37	c.5481_splice		.	.	.	.	.	.	.	.	.	.	G	21.1	4.101941	0.76983	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.089	0.97809	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH8	38938033	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	9.694000	0.98686	2.752000	0.94435	0.557000	0.71058	.		0.463	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	Intron	18	34	0	0	0	0	18	34				
KIF6	221458	broad.mit.edu	37	6	39688494	39688494	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:39688494C>T	ENST00000287152.7	-	2	254	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	KIF6_ENST00000373215.3_Missense_Mutation_p.E54K|KIF6_ENST00000373216.3_Missense_Mutation_p.E54K|KIF6_ENST00000538893.1_Missense_Mutation_p.E54K	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	54	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TTGTAGCTTTCTCGCTTATTA	0.299																																						uc003oot.2		NA																	0				breast(2)|central_nervous_system(1)	3						c.(160-162)GAA>AAA		kinesin family member 6							91.0	95.0	94.0					6																	39688494		2203	4299	6502	SO:0001583	missense	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39688494C>T	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.160G>A	6.37:g.39688494C>T	ENSP00000287152:p.Glu54Lys					KIF6_uc011dua.1_Missense_Mutation_p.E54K|KIF6_uc010jxb.1_Missense_Mutation_p.E54K	p.E54K	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN			2	255	-			54			Kinesin-motor.		Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	37	c.160G>A	CCDS4844.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.752451	0.89753	.	.	ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373215;ENST00000538893	T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69	6.17	6.17	0.99709	Kinesin, motor domain (4);	.	.	.	.	T	0.75057	0.3798	L	0.52206	1.635	0.80722	D	1	D;P;D	0.89917	1.0;0.86;1.0	D;P;D	0.79784	0.993;0.661;0.993	T	0.66885	-0.5810	9	0.18276	T	0.48	.	18.6524	0.91435	0.0:1.0:0.0:0.0	.	54;54;54	E7EUN7;F6VGH2;Q6ZMV9	.;.;KIF6_HUMAN	K	54	ENSP00000287152:E54K;ENSP00000362312:E54K;ENSP00000362311:E54K;ENSP00000441435:E54K	ENSP00000287152:E54K	E	-	1	0	KIF6	39796472	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.019000	0.64060	2.941000	0.99782	0.655000	0.94253	GAA		0.299	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		15	25	0	0	0	0	15	25				
SRF	6722	broad.mit.edu	37	6	43144380	43144380	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:43144380C>T	ENST00000265354.4	+	4	1495	c.1137C>T	c.(1135-1137)ctC>ctT	p.L379L	SRF_ENST00000457278.2_Silent_p.L175L	NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	serum response factor (c-fos serum response element-binding transcription factor)	379					angiogenesis involved in wound healing (GO:0060055)|associative learning (GO:0008306)|cardiac myofibril assembly (GO:0055003)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular senescence (GO:0090398)|contractile actin filament bundle assembly (GO:0030038)|developmental growth (GO:0048589)|dorsal aorta morphogenesis (GO:0035912)|epithelial cell-cell adhesion (GO:0090136)|epithelial structure maintenance (GO:0010669)|erythrocyte development (GO:0048821)|eyelid development in camera-type eye (GO:0061029)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|hematopoietic stem cell differentiation (GO:0060218)|hippocampus development (GO:0021766)|long term synaptic depression (GO:0060292)|long-term memory (GO:0007616)|megakaryocyte development (GO:0035855)|mesoderm formation (GO:0001707)|morphogenesis of an epithelial sheet (GO:0002011)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet formation (GO:0030220)|positive regulation of cell differentiation (GO:0045597)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription by glucose (GO:0046016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive thymic T cell selection (GO:0045059)|primitive streak formation (GO:0090009)|regulation of cell adhesion (GO:0030155)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of water loss via skin (GO:0033561)|response to cytokine (GO:0034097)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|sarcomere organization (GO:0045214)|skin morphogenesis (GO:0043589)|stress fiber assembly (GO:0043149)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|tight junction assembly (GO:0070830)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GCACAGACCTCACGCAGACCT	0.647																																						uc003oui.2		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1135-1137)CTC>CTT		serum response factor (c-fos serum response							142.0	109.0	120.0					6																	43144380		2203	4300	6503	SO:0001819	synonymous_variant	6722				angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding	g.chr6:43144380C>T	J03161	CCDS4889.1	6p	2008-02-05			ENSG00000112658	ENSG00000112658			11291	protein-coding gene	gene with protein product		600589				3203386	Standard	NM_003131		Approved	MCM1	uc003oui.3	P11831	OTTHUMG00000014722	ENST00000265354.4:c.1137C>T	6.37:g.43144380C>T						SRF_uc011dvf.1_Silent_p.L175L	p.L379L	NM_003131	NP_003122	P11831	SRF_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		4	1612	+			379					Q5T648	Silent	SNP	ENST00000265354.4	37	c.1137C>T	CCDS4889.1																																																																																				0.647	SRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040581.1	NM_003131		18	81	0	0	0	0	18	81				
MICAL1	64780	broad.mit.edu	37	6	109771220	109771220	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:109771220C>T	ENST00000358807.3	-	9	1571	c.1260G>A	c.(1258-1260)gtG>gtA	p.V420V	MICAL1_ENST00000358577.3_Silent_p.V334V|MICAL1_ENST00000368952.4_Silent_p.V439V|MICAL1_ENST00000483856.1_5'Flank	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	420	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CCCACCGCTTCACCATCCAGG	0.612																																						uc003ptj.2		NA																	0				breast(2)|ovary(1)	3						c.(1258-1260)GTG>GTA		microtubule associated monoxygenase, calponin							186.0	183.0	184.0					6																	109771220		2203	4300	6503	SO:0001819	synonymous_variant	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109771220C>T	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.1260G>A	6.37:g.109771220C>T						MICAL1_uc003ptk.2_Silent_p.V420V|MICAL1_uc010kdr.2_Silent_p.V334V|MICAL1_uc011eaq.1_Silent_p.V439V	p.V420V	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	8	1514	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	420					B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Silent	SNP	ENST00000358807.3	37	c.1260G>A	CCDS5076.1																																																																																				0.612	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		25	251	0	0	0	0	25	251				
LAMA4	3910	broad.mit.edu	37	6	112443245	112443245	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:112443245C>G	ENST00000230538.7	-	32	4844	c.4447G>C	c.(4447-4449)Gaa>Caa	p.E1483Q	LAMA4_ENST00000389463.4_Missense_Mutation_p.E1476Q|LAMA4_ENST00000522006.1_Missense_Mutation_p.E1476Q|LAMA4_ENST00000424408.2_Missense_Mutation_p.E1476Q	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1483	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTTAAGTGTTCAAACTCTTGG	0.443																																						uc003pvu.2		NA																	0				ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(4447-4449)GAA>CAA		laminin, alpha 4 isoform 1 precursor							212.0	197.0	202.0					6																	112443245		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112443245C>G		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.4447G>C	6.37:g.112443245C>G	ENSP00000230538:p.Glu1483Gln					LAMA4_uc003pvv.2_Missense_Mutation_p.E1476Q|LAMA4_uc003pvt.2_Missense_Mutation_p.E1476Q	p.E1483Q	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	32	4756	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	1483			Laminin G-like 4.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.4447G>C	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590174	0.46214	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	5.62	5.62	0.85841	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.269972	0.41500	D	0.000876	T	0.05273	0.0140	L	0.29908	0.895	0.80722	D	1	B;B	0.20052	0.024;0.041	B;B	0.14578	0.005;0.011	T	0.24621	-1.0155	10	0.14252	T	0.57	.	12.6206	0.56601	0.0:0.9238:0.0:0.0762	.	1483;1476	Q16363;Q16363-2	LAMA4_HUMAN;.	Q	1483;1476;1476;1476	ENSP00000230538:E1483Q;ENSP00000429488:E1476Q;ENSP00000374114:E1476Q;ENSP00000416470:E1476Q	ENSP00000230538:E1483Q	E	-	1	0	LAMA4	112549938	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.148000	0.42235	2.644000	0.89710	0.561000	0.74099	GAA		0.443	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		17	54	0	0	0	0	17	54				
RSPH4A	345895	broad.mit.edu	37	6	116938128	116938128	+	Silent	SNP	G	G	C	rs577977924		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:116938128G>C	ENST00000229554.5	+	1	479	c.342G>C	c.(340-342)acG>acC	p.T114T	RSPH4A_ENST00000368580.4_Silent_p.T114T|RSPH4A_ENST00000368581.4_Silent_p.T114T	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	114					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ACAGGACCACGAGTGTGATTC	0.552									Kartagener syndrome																													uc003pxe.2		NA																	0					0						c.(340-342)ACG>ACC		radial spoke head 4 homolog A isoform 1							67.0	69.0	68.0					6																	116938128		2203	4300	6503	SO:0001819	synonymous_variant	345895	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		g.chr6:116938128G>C		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.342G>C	6.37:g.116938128G>C						RSPH4A_uc010kee.2_Silent_p.T114T	p.T114T	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN			1	487	+			114					B4DSI1|Q3KP24|Q5TD95	Silent	SNP	ENST00000229554.5	37	c.342G>C	CCDS34521.1																																																																																				0.552	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	NM_001010892		18	51	0	0	0	0	18	51				
FAM184A	79632	broad.mit.edu	37	6	119345734	119345734	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:119345734C>G	ENST00000338891.7	-	2	847	c.404G>C	c.(403-405)aGa>aCa	p.R135T	FAM184A_ENST00000368475.4_Missense_Mutation_p.R15T|FAM184A_ENST00000522284.1_Missense_Mutation_p.R15T|FAM184A_ENST00000521531.1_Missense_Mutation_p.R135T|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Missense_Mutation_p.R15T	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	135						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GTCCTCAACTCTGTGCTTATA	0.378																																						uc003pyj.2		NA																	0				ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						c.(403-405)AGA>ACA		hypothetical protein LOC79632 isoform 1							94.0	85.0	88.0					6																	119345734		1849	4096	5945	SO:0001583	missense	79632							g.chr6:119345734C>G	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.404G>C	6.37:g.119345734C>G	ENSP00000342604:p.Arg135Thr					FAM184A_uc003pyk.3_Missense_Mutation_p.R15T|FAM184A_uc003pyl.3_Missense_Mutation_p.R15T	p.R135T	NM_024581	NP_078857	Q8NB25	F184A_HUMAN			2	752	-			135			Potential.		B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	c.404G>C	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400466	0.83120	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284	T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.59390	0.2190	M	0.70275	2.135	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.997	D;D;D	0.78314	0.983;0.948;0.991	T	0.55642	-0.8109	10	0.42905	T	0.14	-12.7938	19.8753	0.96867	0.0:1.0:0.0:0.0	.	135;15;135	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	T	135;15;15;135;15	ENSP00000342604:R135T;ENSP00000326608:R15T;ENSP00000357460:R15T;ENSP00000430442:R135T;ENSP00000429826:R15T	ENSP00000342604:R135T	R	-	2	0	FAM184A	119387433	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.716000	0.68437	2.711000	0.92665	0.655000	0.94253	AGA		0.378	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		25	42	0	0	0	0	25	42				
STX7	8417	broad.mit.edu	37	6	132785161	132785161	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:132785161G>A	ENST00000367941.2	-	9	777	c.664C>T	c.(664-666)Cag>Tag	p.Q222*	STX7_ENST00000367937.4_Nonsense_Mutation_p.Q222*	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN	syntaxin 7	222	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		GACAGCTGCTGATTTGCTTGC	0.378																																						uc003qdg.2		NA																	0					0						c.(664-666)CAG>TAG		syntaxin 7							186.0	160.0	169.0					6																	132785161		2203	4300	6503	SO:0001587	stop_gained	8417				intracellular protein transport|post-Golgi vesicle-mediated transport	early endosome membrane|integral to membrane	SNAP receptor activity	g.chr6:132785161G>A	U77942	CCDS5153.1	6q23.1	2008-02-05			ENSG00000079950	ENSG00000079950			11442	protein-coding gene	gene with protein product		603217				9358037	Standard	NM_003569		Approved		uc003qdg.2	O15400	OTTHUMG00000015577	ENST00000367941.2:c.664C>T	6.37:g.132785161G>A	ENSP00000356918:p.Gln222*					STX7_uc011ecg.1_RNA|STX7_uc011ech.1_Nonsense_Mutation_p.Q47*	p.Q222*	NM_003569	NP_003560	O15400	STX7_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)	9	914	-	Breast(56;0.0615)		222			t-SNARE coiled-coil homology.|Cytoplasmic (Potential).		E1P579|Q5SZW2|Q96ES9	Nonsense_Mutation	SNP	ENST00000367941.2	37	c.664C>T	CCDS5153.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168597	0.57584	.	.	ENSG00000079950	ENST00000367941;ENST00000448348;ENST00000309255;ENST00000367937	.	.	.	5.64	5.64	0.86602	.	0.049892	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-7.6645	20.0769	0.97748	0.0:0.0:1.0:0.0	.	.	.	.	X	222;222;177;222	.	ENSP00000309600:Q177X	Q	-	1	0	STX7	132826854	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	5.746000	0.68681	2.820000	0.97059	0.650000	0.86243	CAG		0.378	STX7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042252.2			30	101	0	0	0	0	30	101				
TAAR6	319100	broad.mit.edu	37	6	132892295	132892295	+	Silent	SNP	T	T	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:132892295T>C	ENST00000275198.1	+	1	835	c.835T>C	c.(835-837)Tta>Cta	p.L279L		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	279					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		CATTGATTCATTAATTGATGC	0.408																																						uc011eck.1		NA																	0				ovary(2)|skin(1)	3						c.(835-837)TTA>CTA		trace amine associated receptor 6							128.0	125.0	126.0					6																	132892295		2203	4300	6503	SO:0001819	synonymous_variant	319100					plasma membrane	G-protein coupled receptor activity	g.chr6:132892295T>C	AF380192	CCDS5155.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146383	ENSG00000146383		"""GPCR / Class A : Trace amine associated receptors"""	20978	protein-coding gene	gene with protein product		608923	"""trace amine receptor 4"""	TRAR4		11459929, 15718104	Standard	NM_175067		Approved	TA4	uc011eck.2	Q96RI8	OTTHUMG00000015579	ENST00000275198.1:c.835T>C	6.37:g.132892295T>C							p.L279L	NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)	1	835	+	Breast(56;0.112)		279			Extracellular (Potential).		Q5VUQ4	Silent	SNP	ENST00000275198.1	37	c.835T>C	CCDS5155.1																																																																																				0.408	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042255.1	NM_175067		22	61	0	0	0	0	22	61				
CCDC28A	25901	broad.mit.edu	37	6	139106386	139106386	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:139106386G>A	ENST00000332797.6	+	4	770	c.615G>A	c.(613-615)caG>caA	p.Q205Q		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	205										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		CCATTGAACAGATGGAACATG	0.388																																						uc003qie.2		NA																	0					0						c.(613-615)CAG>CAA		coiled-coil domain containing 28A							89.0	89.0	89.0					6																	139106386		2203	4300	6503	SO:0001819	synonymous_variant	25901							g.chr6:139106386G>A	AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"""chromosome 6 open reading frame 80"""	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.615G>A	6.37:g.139106386G>A							p.Q205Q	NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)	4	770	+			205					E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Silent	SNP	ENST00000332797.6	37	c.615G>A	CCDS5192.1																																																																																				0.388	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042444.1	NM_015439		53	45	0	0	0	0	53	45				
ABRACL	58527	broad.mit.edu	37	6	139363855	139363855	+	Splice_Site	SNP	G	G	C	rs9495322		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:139363855G>C	ENST00000367660.3	+	3	261		c.e3-1			NM_021243.2	NP_067066.1	Q9P1F3	ABRAL_HUMAN	ABRA C-terminal like									p.?(1)									TCTCAAACTAGATGCTGATGG	0.358																																						uc003qil.2		NA																	1	Unknown(1)		breast(1)		0						c.e3-1		hypothetical protein LOC58527							197.0	180.0	185.0					6																	139363855		1879	4109	5988	SO:0001630	splice_region_variant	58527							g.chr6:139363855G>C	BC014953	CCDS43509.1	6q24.1	2012-03-05	2012-03-05	2012-03-05	ENSG00000146386	ENSG00000146386			21230	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 115"""	C6orf115		21082705	Standard	NM_021243		Approved	PRO2013, HSPC280, Costars	uc003qil.2	Q9P1F3	OTTHUMG00000015684	ENST00000367660.3:c.62-1G>C	6.37:g.139363855G>C						C6orf115_uc003qim.2_Splice_Site_p.N21_splice	p.N21_splice	NM_021243	NP_067066	Q9P1F3	CF115_HUMAN		GBM - Glioblastoma multiforme(68;0.000278)|OV - Ovarian serous cystadenocarcinoma(155;0.000413)	3	262	+								Q5SZC8|Q9P0A1	Splice_Site	SNP	ENST00000367660.3	37	c.62_splice	CCDS43509.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232276	0.79688	.	.	ENSG00000146386	ENST00000367660	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8961	0.96958	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C6orf115	139405548	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	9.334000	0.96470	2.699000	0.92147	0.655000	0.94253	.		0.358	ABRACL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042445.1	NM_021243	Intron	37	117	0	0	0	0	37	117				
GPR126	57211	broad.mit.edu	37	6	142718791	142718791	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:142718791A>G	ENST00000230173.6	+	10	1942	c.1466A>G	c.(1465-1467)aAt>aGt	p.N489S	GPR126_ENST00000296932.8_Missense_Mutation_p.N461S|GPR126_ENST00000367608.2_Missense_Mutation_p.N461S|GPR126_ENST00000367609.3_Missense_Mutation_p.N489S	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	489					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		GCTACCAACAATACTAATTTG	0.398																																						uc010khc.2		NA																	0				ovary(1)	1						c.(1465-1467)AAT>AGT		G protein-coupled receptor 126 alpha 1							86.0	83.0	84.0					6																	142718791		1831	4073	5904	SO:0001583	missense	57211				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142718791A>G	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.1466A>G	6.37:g.142718791A>G	ENSP00000230173:p.Asn489Ser					GPR126_uc010khd.2_Missense_Mutation_p.N461S|GPR126_uc010khe.2_Missense_Mutation_p.N489S|GPR126_uc010khf.2_Missense_Mutation_p.N461S	p.N489S	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	10	1877	+	Breast(32;0.176)		489			Extracellular (Potential).		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	c.1466A>G	CCDS47490.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.18|13.18	2.161446|2.161446	0.38119|0.38119	.|.	.|.	ENSG00000112414|ENSG00000112414	ENST00000508295|ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609	.|T;T;T;T	.|0.51817	.|0.69;0.69;0.69;0.69	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.33440|0.33440	0.0863|0.0863	L|L	0.58101|0.58101	1.795|1.795	0.42249|0.42249	D|D	0.991962|0.991962	.|B;B;B;B	.|0.29590	.|0.25;0.25;0.25;0.162	.|B;B;B;B	.|0.28709	.|0.093;0.093;0.065;0.029	T|T	0.24225|0.24225	-1.0166|-1.0166	5|10	.|0.44086	.|T	.|0.13	.|.	16.1864|16.1864	0.81955|0.81955	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|461;489;461;489	.|Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4	.|.;.;.;GP126_HUMAN	V|S	64|489;461;461;489	.|ENSP00000230173:N489S;ENSP00000356580:N461S;ENSP00000296932:N461S;ENSP00000356581:N489S	.|ENSP00000230173:N489S	I|N	+|+	1|2	0|0	GPR126|GPR126	142760484|142760484	0.999000|0.999000	0.42202|0.42202	0.909000|0.909000	0.35828|0.35828	0.195000|0.195000	0.23768|0.23768	4.454000|4.454000	0.60068|0.60068	2.281000|2.281000	0.76405|0.76405	0.528000|0.528000	0.53228|0.53228	ATA|AAT		0.398	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			29	23	0	0	0	0	29	23				
HIVEP2	3097	broad.mit.edu	37	6	143094723	143094723	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:143094723G>C	ENST00000367604.1	-	4	1792	c.1153C>G	c.(1153-1155)Ctc>Gtc	p.L385V	HIVEP2_ENST00000012134.2_Missense_Mutation_p.L385V|HIVEP2_ENST00000367603.2_Missense_Mutation_p.L385V			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	385					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AGAAGGTTGAGCGATGGCTCA	0.438																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	uc003qjd.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1153-1155)CTC>GTC		human immunodeficiency virus type I enhancer							138.0	133.0	135.0					6																	143094723		1901	4132	6033	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143094723G>C	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.1153C>G	6.37:g.143094723G>C	ENSP00000356576:p.Leu385Val						p.L385V	NM_006734	NP_006725	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	5	1896	-			385					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.1153C>G	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.668972	0.47677	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.36340	1.26;1.26;1.26	5.62	5.62	0.85841	.	0.070422	0.64402	D	0.000015	T	0.24624	0.0597	L	0.59436	1.845	0.24906	N	0.992072	D	0.56521	0.976	P	0.47603	0.551	T	0.23404	-1.0189	10	0.51188	T	0.08	-1.9419	7.7215	0.28736	0.1937:0.0:0.8063:0.0	.	385	P31629	ZEP2_HUMAN	V	385	ENSP00000356576:L385V;ENSP00000356575:L385V;ENSP00000012134:L385V	ENSP00000012134:L385V	L	-	1	0	HIVEP2	143136416	0.995000	0.38212	0.998000	0.56505	0.994000	0.84299	2.549000	0.45803	2.821000	0.97095	0.650000	0.86243	CTC		0.438	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			43	103	0	0	0	0	43	103				
SYNE1	23345	broad.mit.edu	37	6	152720763	152720763	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:152720763T>A	ENST00000367255.5	-	48	7826	c.7225A>T	c.(7225-7227)Aaa>Taa	p.K2409*	SYNE1_ENST00000265368.4_Nonsense_Mutation_p.K2409*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.K2416*|RP3-398G3.5_ENST00000458194.1_RNA|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.K2446*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.K2416*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2409					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGAAGTGTTTTTCCAGAGAT	0.493										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(7225-7227)AAA>TAA		spectrin repeat containing, nuclear envelope 1							179.0	189.0	186.0					6																	152720763		2203	4300	6503	SO:0001587	stop_gained	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152720763T>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.7225A>T	6.37:g.152720763T>A	ENSP00000356224:p.Lys2409*	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Nonsense_Mutation_p.K2416*|SYNE1_uc003qou.3_Nonsense_Mutation_p.K2409*|SYNE1_uc010kjb.1_Nonsense_Mutation_p.K2392*	p.K2409*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	48	7827	-		Ovarian(120;0.0955)	2409			Spectrin 4.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	c.7225A>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	51	17.819416	0.99894	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	.	.	.	5.84	4.67	0.58626	.	0.269423	0.31936	N	0.006837	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0706	0.53613	0.0:0.0673:0.0:0.9327	.	.	.	.	X	2409;2416;2409;2416;2446	.	ENSP00000265368:K2409X	K	-	1	0	SYNE1	152762456	1.000000	0.71417	0.996000	0.52242	0.900000	0.52787	4.082000	0.57635	1.039000	0.40074	0.529000	0.55759	AAA		0.493	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		138	142	0	0	0	0	138	142				
SYNE1	23345	broad.mit.edu	37	6	152763259	152763259	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:152763259G>T	ENST00000367255.5	-	31	4560	c.3959C>A	c.(3958-3960)aCa>aAa	p.T1320K	SYNE1_ENST00000265368.4_Missense_Mutation_p.T1320K|SYNE1_ENST00000367248.3_Missense_Mutation_p.T1310K|SYNE1_ENST00000448038.1_Missense_Mutation_p.T1327K|SYNE1_ENST00000341594.5_Missense_Mutation_p.T1386K|SYNE1_ENST00000367253.4_Missense_Mutation_p.T1320K|SYNE1_ENST00000423061.1_Missense_Mutation_p.T1327K|SYNE1_ENST00000413186.2_Missense_Mutation_p.T1320K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1320					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCCATCCAGTGTGCTCTCCAG	0.637										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(3958-3960)ACA>AAA		spectrin repeat containing, nuclear envelope 1							73.0	70.0	71.0					6																	152763259		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152763259G>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3959C>A	6.37:g.152763259G>T	ENSP00000356224:p.Thr1320Lys	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.T1327K|SYNE1_uc003qou.3_Missense_Mutation_p.T1320K|SYNE1_uc010kjb.1_Missense_Mutation_p.T1303K|SYNE1_uc003qow.2_Missense_Mutation_p.T615K|SYNE1_uc003qox.1_Missense_Mutation_p.T836K	p.T1320K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	31	4561	-		Ovarian(120;0.0955)	1320			Potential.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.3959C>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	16.55	3.153909	0.57259	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;D;D;D	0.87491	0.72;0.72;0.63;0.72;0.78;-2.13;-2.26;-2.26	5.19	3.34	0.38264	.	0.100803	0.43579	D	0.000558	D	0.83225	0.5208	M	0.67953	2.075	0.80722	D	1	D;D;P;D;D;P	0.64830	0.986;0.969;0.878;0.994;0.969;0.878	P;P;P;P;P;P	0.60682	0.665;0.489;0.625;0.878;0.489;0.627	D	0.83797	0.0234	10	0.05959	T	0.93	.	10.6272	0.45514	0.0:0.2716:0.5876:0.1408	.	1303;1320;1310;1320;1320;1327	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	K	1320;1327;1320;1327;1386;1320;1310;1320	ENSP00000356224:T1320K;ENSP00000396024:T1327K;ENSP00000265368:T1320K;ENSP00000390975:T1327K;ENSP00000341887:T1386K;ENSP00000356222:T1320K;ENSP00000356217:T1310K;ENSP00000414510:T1320K	ENSP00000265368:T1320K	T	-	2	0	SYNE1	152804952	1.000000	0.71417	0.879000	0.34478	0.390000	0.30446	3.488000	0.53229	0.632000	0.30432	0.650000	0.86243	ACA		0.637	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		17	53	1	0	3.67e-16	3.98e-16	17	53				
SYNE1	23345	broad.mit.edu	37	6	152841605	152841605	+	Missense_Mutation	SNP	C	C	T	rs187117263		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:152841605C>T	ENST00000367255.5	-	6	899	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	SYNE1_ENST00000265368.4_Missense_Mutation_p.E100K|SYNE1_ENST00000367248.3_Missense_Mutation_p.E100K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E100K|SYNE1_ENST00000466159.2_Missense_Mutation_p.E100K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E100K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E100K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E100K|SYNE1_ENST00000413186.2_Missense_Mutation_p.E100K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	100	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.E100K(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTCTTCCTTCGAGGAACTTG	0.443										HNSCC(10;0.0054)			C|||	1	0.000199681	0.0008	0.0	5008	,	,		17625	0.0		0.0	False		,,,				2504	0.0					uc010kiw.2		NA																	2	Substitution - Missense(2)		large_intestine(2)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(298-300)GAA>AAA		spectrin repeat containing, nuclear envelope 1							141.0	140.0	140.0					6																	152841605		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152841605C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.298G>A	6.37:g.152841605C>T	ENSP00000356224:p.Glu100Lys	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.E100K|SYNE1_uc003qou.3_Missense_Mutation_p.E100K|SYNE1_uc010kjb.1_Missense_Mutation_p.E100K|SYNE1_uc003qpa.1_Missense_Mutation_p.E100K	p.E100K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	6	900	-		Ovarian(120;0.0955)	100			Actin-binding.|Cytoplasmic (Potential).|CH 1.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.298G>A	CCDS5236.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	34	5.321335	0.95682	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000466159;ENST00000537750	D;D;D;D;D;D;D;D;D;D	0.94417	-3.42;-3.42;-3.42;-3.42;-3.42;-3.42;-3.42;-3.42;-3.42;-3.42	5.45	5.45	0.79879	Calponin homology domain (5);	0.000000	0.64402	D	0.000010	D	0.91157	0.7215	N	0.02412	-0.56	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.998;1.0;0.999	D;D;P;D;D	0.70716	0.97;0.945;0.88;0.945;0.909	D	0.93930	0.7213	10	0.49607	T	0.09	.	19.6439	0.95769	0.0:1.0:0.0:0.0	.	100;100;100;100;100	B3W695;Q8NF91;F5H4Q0;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	K	100	ENSP00000356224:E100K;ENSP00000396024:E100K;ENSP00000265368:E100K;ENSP00000390975:E100K;ENSP00000341887:E100K;ENSP00000356222:E100K;ENSP00000356217:E100K;ENSP00000414510:E100K;ENSP00000446021:E100K;ENSP00000441264:E100K	ENSP00000265368:E100K	E	-	1	0	SYNE1	152883298	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.187000	0.77730	2.716000	0.92895	0.650000	0.86243	GAA		0.443	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		40	137	0	0	0	0	40	137				
FNDC1	84624	broad.mit.edu	37	6	159653679	159653679	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:159653679C>T	ENST00000297267.9	+	11	2335	c.2135C>T	c.(2134-2136)gCc>gTc	p.A712V	FNDC1_ENST00000340366.6_Missense_Mutation_p.A649V	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	712	Ser-rich.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GATTCCAGTGCCTCAGCCCCA	0.657																																						uc010kjv.2		NA																	0				large_intestine(4)|ovary(3)|central_nervous_system(1)	8						c.(2134-2136)GCC>GTC		fibronectin type III domain containing 1							20.0	24.0	23.0					6																	159653679		1961	4130	6091	SO:0001583	missense	84624					extracellular region		g.chr6:159653679C>T	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2135C>T	6.37:g.159653679C>T	ENSP00000297267:p.Ala712Val					FNDC1_uc010kjw.1_Missense_Mutation_p.A597V	p.A712V	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	2335	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	712			Ser-rich.		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.2135C>T	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895991	0.33442	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.08458	3.09;3.92	4.64	0.0912	0.14467	.	1.242940	0.05422	N	0.544415	T	0.01870	0.0059	L	0.29908	0.895	0.09310	N	1	B;B	0.13145	0.007;0.001	B;B	0.10450	0.005;0.002	T	0.47484	-0.9114	10	0.25751	T	0.34	-2.7383	6.9987	0.24797	0.0:0.4882:0.0:0.5118	.	649;712	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	V	712;649	ENSP00000297267:A712V;ENSP00000342460:A649V	ENSP00000297267:A712V	A	+	2	0	FNDC1	159573669	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.022000	0.12480	0.027000	0.15297	-0.140000	0.14226	GCC		0.657	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		8	12	0	0	0	0	8	12				
SLC22A3	6581	broad.mit.edu	37	6	160857877	160857877	+	Missense_Mutation	SNP	G	G	C	rs200083406		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:160857877G>C	ENST00000275300.2	+	6	1193	c.1041G>C	c.(1039-1041)atG>atC	p.M347I	SLC22A3_ENST00000392145.1_Missense_Mutation_p.M347I	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	347					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|histamine uptake (GO:0051615)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|regulation of appetite (GO:0032098)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine transmembrane transporter activity (GO:0005329)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|toxin transporter activity (GO:0019534)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	Adefovir Dipivoxil(DB00718)|Amphetamine(DB00182)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Colchicine(DB01394)|Desipramine(DB01151)|Dopamine(DB00988)|Estradiol(DB00783)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imipramine(DB00458)|Irinotecan(DB00762)|Lamivudine(DB00709)|Melphalan(DB01042)|Metformin(DB00331)|Methamphetamine(DB01577)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Phenoxybenzamine(DB00925)|Prazosin(DB00457)|Procainamide(DB01035)|Progesterone(DB00396)|Testosterone(DB00624)|Vincristine(DB00541)	CTCCCCAAATGAGGAAATGCA	0.348													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20217	0.0		0.0	False		,,,				2504	0.0					uc003qti.2		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1039-1041)ATG>ATC		solute carrier family 22 member 3							118.0	108.0	111.0					6																	160857877		2203	4300	6503	SO:0001583	missense	6581					integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity	g.chr6:160857877G>C	AF078749	CCDS5277.1	6q25.3	2013-07-18	2013-07-18		ENSG00000146477	ENSG00000146477		"""Solute carriers"""	10967	protein-coding gene	gene with protein product		604842	"""solute carrier family 22 (extraneuronal monoamine transporter), member 3"""			9632645, 9933568	Standard	NM_021977		Approved	OCT3, EMT	uc003qti.4	O75751	OTTHUMG00000015953	ENST00000275300.2:c.1041G>C	6.37:g.160857877G>C	ENSP00000275300:p.Met347Ile					SLC22A3_uc011efx.1_Intron	p.M347I	NM_021977	NP_068812	O75751	S22A3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	6	1068	+		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)	347					Q5SYN6|Q9UP02	Missense_Mutation	SNP	ENST00000275300.2	37	c.1041G>C	CCDS5277.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	15.86	2.958485	0.53400	.	.	ENSG00000146477	ENST00000275300;ENST00000392145	T;T	0.54866	0.55;0.55	5.83	5.83	0.93111	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.28665	0.0710	N	0.13299	0.325	0.58432	D	0.999997	B	0.27264	0.173	B	0.37091	0.241	T	0.17471	-1.0368	10	0.18710	T	0.47	.	18.2967	0.90148	0.0:0.0:1.0:0.0	.	347	O75751	S22A3_HUMAN	I	347	ENSP00000275300:M347I;ENSP00000375989:M347I	ENSP00000275300:M347I	M	+	3	0	SLC22A3	160777867	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.639000	0.74314	2.756000	0.94617	0.655000	0.94253	ATG		0.348	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1	NM_021977		16	33	0	0	0	0	16	33				
SLC22A3	6581	broad.mit.edu	37	6	160864770	160864770	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:160864770C>T	ENST00000275300.2	+	9	1658	c.1506C>T	c.(1504-1506)atC>atT	p.I502I	SLC22A3_ENST00000392145.1_Silent_p.I503I	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	502					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|histamine uptake (GO:0051615)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|regulation of appetite (GO:0032098)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine transmembrane transporter activity (GO:0005329)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|toxin transporter activity (GO:0019534)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	Adefovir Dipivoxil(DB00718)|Amphetamine(DB00182)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Colchicine(DB01394)|Desipramine(DB01151)|Dopamine(DB00988)|Estradiol(DB00783)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imipramine(DB00458)|Irinotecan(DB00762)|Lamivudine(DB00709)|Melphalan(DB01042)|Metformin(DB00331)|Methamphetamine(DB01577)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Phenoxybenzamine(DB00925)|Prazosin(DB00457)|Procainamide(DB01035)|Progesterone(DB00396)|Testosterone(DB00624)|Vincristine(DB00541)	CTCTGATCATCTTTGGTAAGA	0.393																																						uc003qti.2		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1504-1506)ATC>ATT		solute carrier family 22 member 3							98.0	89.0	92.0					6																	160864770		2203	4300	6503	SO:0001819	synonymous_variant	6581					integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity	g.chr6:160864770C>T	AF078749	CCDS5277.1	6q25.3	2013-07-18	2013-07-18		ENSG00000146477	ENSG00000146477		"""Solute carriers"""	10967	protein-coding gene	gene with protein product		604842	"""solute carrier family 22 (extraneuronal monoamine transporter), member 3"""			9632645, 9933568	Standard	NM_021977		Approved	OCT3, EMT	uc003qti.4	O75751	OTTHUMG00000015953	ENST00000275300.2:c.1506C>T	6.37:g.160864770C>T						SLC22A3_uc011efx.1_RNA	p.I502I	NM_021977	NP_068812	O75751	S22A3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	9	1533	+		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)	502			Helical; (Potential).		Q5SYN6|Q9UP02	Silent	SNP	ENST00000275300.2	37	c.1506C>T	CCDS5277.1																																																																																				0.393	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1	NM_021977		32	21	0	0	0	0	32	21				
THBS2	7058	broad.mit.edu	37	6	169640633	169640633	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr6:169640633T>G	ENST00000366787.3	-	7	1195	c.946A>C	c.(946-948)Aac>Cac	p.N316H	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	316					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GCTGACATGTTCCTTGTCTTA	0.483																																					Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.2		NA																	0				ovary(5)	5						c.(946-948)AAC>CAC		thrombospondin 2 precursor							93.0	89.0	91.0					6																	169640633		2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169640633T>G		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.946A>C	6.37:g.169640633T>G	ENSP00000355751:p.Asn316His						p.N316H	NM_003247	NP_003238	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	7	1194	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	316					A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.946A>C	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	T	17.19	3.326333	0.60743	.	.	ENSG00000186340	ENST00000366787	T	0.80653	-1.4	5.29	5.29	0.74685	.	0.000000	0.44688	U	0.000426	T	0.79323	0.4426	L	0.59436	1.845	0.31619	N	0.650488	D	0.56968	0.978	P	0.56216	0.794	T	0.77225	-0.2666	10	0.33940	T	0.23	-69.08	15.2491	0.73529	0.0:0.0:0.0:1.0	.	316	P35442	TSP2_HUMAN	H	316	ENSP00000355751:N316H	ENSP00000355751:N316H	N	-	1	0	THBS2	169382558	1.000000	0.71417	0.752000	0.31206	0.597000	0.36814	3.917000	0.56424	1.999000	0.58509	0.459000	0.35465	AAC		0.483	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		27	24	0	0	0	0	27	24				
ETV1	2115	broad.mit.edu	37	7	13946217	13946217	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:13946217G>C	ENST00000430479.1	-	12	1615	c.948C>G	c.(946-948)atC>atG	p.I316M	ETV1_ENST00000343495.5_Missense_Mutation_p.I298M|ETV1_ENST00000403527.1_Missense_Mutation_p.I276M|ETV1_ENST00000242066.5_Missense_Mutation_p.I298M|ETV1_ENST00000405358.4_Missense_Mutation_p.I330M|ETV1_ENST00000399357.3_Missense_Mutation_p.I213M|ETV1_ENST00000420159.2_Missense_Mutation_p.I258M|ETV1_ENST00000405218.2_Missense_Mutation_p.I316M|ETV1_ENST00000405192.2_Missense_Mutation_p.I293M|ETV1_ENST00000403685.1_Missense_Mutation_p.I298M	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	316					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GCTCTTGTTTGATGTCTCCTA	0.368			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																	uc011jxq.1		NA		Dom	yes		7	7p22	2115	T	ets variant gene 1			"""M, E"""	EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3		Ewing sarcoma|prostate	TMPRSS2/ETV1(24)|EWSR1/ETV1(7)	0				prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1)	35						c.(946-948)ATC>ATG		ets variant gene 1 isoform a							58.0	58.0	58.0					7																	13946217		1871	4102	5973	SO:0001583	missense	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:13946217G>C		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.948C>G	7.37:g.13946217G>C	ENSP00000405327:p.Ile316Met					ETV1_uc011jxn.1_Missense_Mutation_p.I276M|ETV1_uc011jxo.1_Missense_Mutation_p.I213M|ETV1_uc011jxp.1_Missense_Mutation_p.I258M|ETV1_uc003ssw.3_Missense_Mutation_p.I293M|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Missense_Mutation_p.I298M|ETV1_uc011jxs.1_Missense_Mutation_p.I298M|ETV1_uc010ktv.2_Nonsense_Mutation_p.S185*	p.I316M	NM_004956	NP_004947	P50549	ETV1_HUMAN			12	1687	-			316					A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	ENST00000430479.1	37	c.948C>G	CCDS55088.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977137	0.53720	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685;ENST00000438956	T;T;T;T;T;T;T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81;1.81;1.81;1.81;1.81;1.81;1.81	5.8	2.96	0.34315	Winged helix-turn-helix transcription repressor DNA-binding (1);PEA3-type ETS-domain transcription factor, N-terminal (1);	0.145674	0.64402	D	0.000013	T	0.36908	0.0984	L	0.58428	1.81	0.47584	D	0.999462	B;B;B;P;P;P;B	0.43542	0.019;0.052;0.045;0.773;0.589;0.81;0.136	B;B;B;P;P;P;B	0.57057	0.026;0.09;0.062;0.592;0.812;0.715;0.217	T	0.07065	-1.0792	10	0.56958	D	0.05	.	5.5522	0.17097	0.2091:0.0:0.6431:0.1477	.	304;298;330;258;213;276;316	Q59GA7;P50549-2;B5MCT2;F5GXR2;B7Z9P2;E9PHB1;P50549	.;.;.;.;.;.;ETV1_HUMAN	M	316;298;298;258;213;293;330;276;316;298;258	ENSP00000405327:I316M;ENSP00000242066:I298M;ENSP00000340853:I298M;ENSP00000411626:I258M;ENSP00000382293:I213M;ENSP00000385381:I293M;ENSP00000384085:I330M;ENSP00000384138:I276M;ENSP00000385551:I316M;ENSP00000385686:I298M;ENSP00000393078:I258M	ENSP00000242066:I298M	I	-	3	3	ETV1	13912742	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	0.800000	0.27042	0.330000	0.23485	0.591000	0.81541	ATC		0.368	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		3	11	0	0	0	0	3	11				
AGR3	155465	broad.mit.edu	37	7	16902261	16902261	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:16902261G>A	ENST00000310398.2	-	4	269	c.199C>T	c.(199-201)Cac>Tac	p.H67Y	AGR3_ENST00000402239.3_Missense_Mutation_p.H67Y	NM_176813.3	NP_789783.1	Q8TD06	AGR3_HUMAN	anterior gradient 3	67						extracellular region (GO:0005576)	dystroglycan binding (GO:0002162)			central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		TCCTCCAGGTGATGAATAACC	0.284																																						uc003sts.2		NA																	0					0						c.(199-201)CAC>TAC		breast cancer membrane protein 11 precursor							66.0	69.0	68.0					7																	16902261		2202	4295	6497	SO:0001583	missense	155465					extracellular region		g.chr7:16902261G>A	AY069977	CCDS5365.1	7p21.1	2013-07-31	2013-07-31		ENSG00000173467	ENSG00000173467		"""Protein disulfide isomerases"""	24167	protein-coding gene	gene with protein product	"""breast cancer membrane protein 11"", ""protein disulfide isomerase family A, member 18"""	609482	"""anterior gradient 3 homolog (Xenopus laevis)"""			12592373, 12477722	Standard	NM_176813		Approved	HAG3, hAG-3, BCMP11, PDIA18	uc003sts.3	Q8TD06	OTTHUMG00000128411	ENST00000310398.2:c.199C>T	7.37:g.16902261G>A	ENSP00000308606:p.His67Tyr						p.H67Y	NM_176813	NP_789783	Q8TD06	AGR3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.184)	4	272	-	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)		67					A4D120	Missense_Mutation	SNP	ENST00000310398.2	37	c.199C>T	CCDS5365.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.31|17.31	3.356962|3.356962	0.61293|0.61293	.|.	.|.	ENSG00000173467|ENSG00000173467	ENST00000310398;ENST00000402239|ENST00000414935	T;T|.	0.43688|.	0.94;0.94|.	4.46|4.46	3.51|3.51	0.40186|0.40186	Thioredoxin-like fold (2);|.	0.000000|.	0.64402|.	D|.	0.000014|.	T|T	0.73156|0.73156	0.3551|0.3551	M|M	0.77313|0.77313	2.365|2.365	0.45777|0.45777	D|D	0.99866|0.99866	D|.	0.89917|.	1.0|.	D|.	0.70016|.	0.967|.	T|T	0.74948|0.74948	-0.3490|-0.3490	10|5	0.21540|.	T|.	0.41|.	-8.5377|-8.5377	12.752|12.752	0.57314|0.57314	0.0:0.0:0.8351:0.1648|0.0:0.0:0.8351:0.1648	.|.	67|.	Q8TD06|.	AGR3_HUMAN|.	Y|L	67|45	ENSP00000308606:H67Y;ENSP00000386016:H67Y|.	ENSP00000308606:H67Y|.	H|S	-|-	1|2	0|0	AGR3|AGR3	16868786|16868786	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.920000|0.920000	0.55202|0.55202	5.271000|5.271000	0.65553|0.65553	2.029000|2.029000	0.59856|0.59856	0.462000|0.462000	0.41574|0.41574	CAC|TCA		0.284	AGR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250191.2	NM_176813		17	86	0	0	0	0	17	86				
ABCB5	340273	broad.mit.edu	37	7	20762686	20762686	+	Missense_Mutation	SNP	G	G	T	rs375057697		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:20762686G>T	ENST00000404938.2	+	21	3121	c.2469G>T	c.(2467-2469)atG>atT	p.M823I	ABCB5_ENST00000258738.6_Missense_Mutation_p.M378I	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	823	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CAACTAACATGGGACTTTCAG	0.378																																						uc003suw.3		NA																	0				skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						c.(1132-1134)ATG>ATT		ATP-binding cassette, sub-family B, member 5							176.0	171.0	173.0					7																	20762686		2203	4300	6503	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20762686G>T	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2469G>T	7.37:g.20762686G>T	ENSP00000384881:p.Met823Ile					ABCB5_uc010kuh.2_Missense_Mutation_p.M823I|ABCB5_uc003sux.1_Missense_Mutation_p.M1I	p.M378I	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN			12	1680	+			378			Extracellular (Potential).|ABC transmembrane type-1.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.1134G>T	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	5.859	0.342711	0.11069	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.88046	-2.33;-2.33	4.75	2.77	0.32553	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.165528	0.28671	N	0.014538	T	0.72045	0.3412	N	0.10664	0.02	0.33331	D	0.568559	B;B;B	0.25719	0.015;0.132;0.022	B;B;B	0.32393	0.017;0.145;0.058	T	0.69741	-0.5063	10	0.22706	T	0.39	.	7.1429	0.25566	0.0:0.1663:0.4909:0.3428	.	823;1;378	A7BKA4;A0ASV4;Q2M3G0	.;.;ABCB5_HUMAN	I	823;378	ENSP00000384881:M823I;ENSP00000258738:M378I	ENSP00000258738:M378I	M	+	3	0	ABCB5	20729211	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	1.023000	0.30065	1.329000	0.45376	0.655000	0.94253	ATG		0.378	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		37	77	1	0	5.72e-15	6.19e-15	37	77				
DNAH11	8701	broad.mit.edu	37	7	21599363	21599363	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:21599363G>C	ENST00000409508.3	+	4	866	c.835G>C	c.(835-837)Gat>Cat	p.D279H	DNAH11_ENST00000328843.6_Missense_Mutation_p.D279H	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	279	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGCAGAACTAGATTTCTGGAT	0.358									Kartagener syndrome																													uc003svc.2		NA																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(835-837)GAT>CAT		dynein, axonemal, heavy chain 11							65.0	61.0	62.0					7																	21599363		1860	4098	5958	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21599363G>C	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.835G>C	7.37:g.21599363G>C	ENSP00000475939:p.Asp279His						p.D279H	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			4	866	+			279			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.835G>C		.	.	.	.	.	.	.	.	.	.	G	12.73	2.024794	0.35701	.	.	ENSG00000105877	ENST00000328843	T	0.55760	0.5	5.93	5.93	0.95920	Dynein heavy chain, domain-1 (1);	0.390843	0.27270	N	0.020124	T	0.51686	0.1689	M	0.70595	2.14	0.29671	N	0.842475	B	0.15473	0.013	B	0.19666	0.026	T	0.54970	-0.8213	10	0.72032	D	0.01	.	9.2024	0.37268	0.1538:0.0:0.8462:0.0	.	279	Q96DT5	DYH11_HUMAN	H	279	ENSP00000330671:D279H	ENSP00000330671:D279H	D	+	1	0	DNAH11	21565888	0.988000	0.35896	1.000000	0.80357	0.813000	0.45954	1.260000	0.32968	2.802000	0.96397	0.563000	0.77884	GAT		0.358	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		7	8	0	0	0	0	7	8				
BBS9	27241	broad.mit.edu	37	7	33388766	33388766	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:33388766C>T	ENST00000242067.6	+	13	1937	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F	BBS9_ENST00000350941.3_Silent_p.F472F|BBS9_ENST00000355070.2_Silent_p.F472F|BBS9_ENST00000354265.4_Silent_p.F472F|BBS9_ENST00000396127.2_Silent_p.F472F	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	472					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GTGATCAGTTCACCTTTGAAT	0.333									Bardet-Biedl syndrome																													uc003tdn.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(1414-1416)TTC>TTT		parathyroid hormone-responsive B1 isoform 2							186.0	166.0	173.0					7																	33388766		2203	4300	6503	SO:0001819	synonymous_variant	27241	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33388766C>T		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.1416C>T	7.37:g.33388766C>T						BBS9_uc003tdo.1_Silent_p.F472F|BBS9_uc003tdp.1_Silent_p.F472F|BBS9_uc003tdq.1_Silent_p.F472F|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_5'UTR|BBS9_uc003tds.1_5'Flank|BBS9_uc011kao.1_Silent_p.F350F	p.F472F	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		13	1929	+			472					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Silent	SNP	ENST00000242067.6	37	c.1416C>T	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	C	8.742	0.919196	0.17982	.	.	ENSG00000122507	ENST00000434373	.	.	.	5.41	2.45	0.29901	.	.	.	.	.	T	0.55878	0.1948	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48305	-0.9047	4	.	.	.	-17.9014	7.7733	0.29021	0.0:0.7135:0.0:0.2865	.	.	.	.	Y	39	.	.	H	+	1	0	BBS9	33355291	0.999000	0.42202	1.000000	0.80357	0.984000	0.73092	0.469000	0.22067	0.559000	0.29153	0.585000	0.79938	CAC		0.333	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			14	76	0	0	0	0	14	76				
BMPER	168667	broad.mit.edu	37	7	34118611	34118611	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:34118611C>G	ENST00000297161.2	+	13	1595	c.1221C>G	c.(1219-1221)aaC>aaG	p.N407K	BMPER_ENST00000426693.1_Missense_Mutation_p.N407K	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	407	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)		p.N407N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TGGTGAAGAACGACGCCCGCC	0.607																																						uc011kap.1		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(2)|central_nervous_system(1)	3						c.(1219-1221)AAC>AAG		BMP-binding endothelial regulator precursor							92.0	97.0	96.0					7																	34118611		2203	4300	6503	SO:0001583	missense	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34118611C>G		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1221C>G	7.37:g.34118611C>G	ENSP00000297161:p.Asn407Lys						p.N407K	NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN			12	1335	+			407			VWFD.		A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	c.1221C>G	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844273	0.71488	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.58358	0.34;0.34	5.87	2.63	0.31362	von Willebrand factor, type D domain (3);	0.000000	0.85682	D	0.000000	T	0.70465	0.3227	M	0.80847	2.515	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.73020	-0.4114	10	0.72032	D	0.01	.	10.7906	0.46429	0.0:0.714:0.0:0.286	.	407	Q8N8U9	BMPER_HUMAN	K	407	ENSP00000297161:N407K;ENSP00000393950:N407K	ENSP00000297161:N407K	N	+	3	2	BMPER	34085136	0.880000	0.30214	1.000000	0.80357	0.998000	0.95712	0.022000	0.13511	0.806000	0.34183	0.655000	0.94253	AAC		0.607	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		49	88	0	0	0	0	49	88				
VPS41	27072	broad.mit.edu	37	7	38812139	38812139	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:38812139C>G	ENST00000310301.4	-	13	1165	c.1111G>C	c.(1111-1113)Gaa>Caa	p.E371Q	VPS41_ENST00000395969.2_Missense_Mutation_p.E346Q|VPS41_ENST00000466017.1_5'Flank	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	371					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TTCTTCTTTTCAAGGAGCCAG	0.363																																						uc003tgy.2		NA																	0				skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(1111-1113)GAA>CAA		vacuolar protein sorting 41 isoform 1							117.0	108.0	111.0					7																	38812139		2203	4300	6503	SO:0001583	missense	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38812139C>G	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.1111G>C	7.37:g.38812139C>G	ENSP00000309457:p.Glu371Gln					VPS41_uc003tgz.2_Missense_Mutation_p.E346Q|VPS41_uc010kxn.2_Missense_Mutation_p.E282Q	p.E371Q	NM_014396	NP_055211	P49754	VPS41_HUMAN			13	1137	-			371					E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	ENST00000310301.4	37	c.1111G>C	CCDS5457.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.601810	0.66445	.	.	ENSG00000006715	ENST00000310301;ENST00000395969	T;T	0.20881	2.04;2.04	6.06	6.06	0.98353	.	0.093770	0.64402	D	0.000001	T	0.20659	0.0497	L	0.29908	0.895	0.58432	D	0.999999	B;B;B	0.15473	0.013;0.013;0.013	B;B;B	0.08055	0.003;0.003;0.003	T	0.02161	-1.1203	10	0.45353	T	0.12	-27.5925	20.6208	0.99490	0.0:1.0:0.0:0.0	.	371;346;371	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	Q	371;346	ENSP00000309457:E371Q;ENSP00000379297:E346Q	ENSP00000309457:E371Q	E	-	1	0	VPS41	38778664	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.855000	0.62925	2.882000	0.98803	0.655000	0.94253	GAA		0.363	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3			9	40	0	0	0	0	9	40				
TNS3	64759	broad.mit.edu	37	7	47319949	47319949	+	Silent	SNP	G	G	C	rs368581501		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:47319949G>C	ENST00000398879.1	-	29	4467	c.4101C>G	c.(4099-4101)ctC>ctG	p.L1367L	TNS3_ENST00000311160.9_Silent_p.L1367L|TNS3_ENST00000355730.3_Silent_p.L1127L			Q68CZ2	TENS3_HUMAN	tensin 3	1367					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						TCCGGAAGAAGAGCCTGTTGG	0.502																																						uc003tnv.2		NA																	0				ovary(4)	4						c.(4099-4101)CTC>CTG		tensin 3							69.0	76.0	74.0					7																	47319949		1910	4112	6022	SO:0001819	synonymous_variant	64759					focal adhesion	protein binding	g.chr7:47319949G>C	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.4101C>G	7.37:g.47319949G>C						TNS3_uc003tnw.2_Silent_p.L1367L	p.L1367L	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN			29	4468	-			1367					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Silent	SNP	ENST00000398879.1	37	c.4101C>G	CCDS5506.2																																																																																				0.502	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		8	37	0	0	0	0	8	37				
IKZF1	10320	broad.mit.edu	37	7	50450284	50450284	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:50450284G>A	ENST00000331340.3	+	5	623	c.468G>A	c.(466-468)caG>caA	p.Q156Q	IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000343574.5_Silent_p.Q69Q|IKZF1_ENST00000359197.5_Silent_p.Q156Q|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000357364.4_Silent_p.Q156Q|IKZF1_ENST00000439701.1_Silent_p.Q156Q|IKZF1_ENST00000440768.2_Silent_p.Q156Q|IKZF1_ENST00000438033.1_Silent_p.Q69Q	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	156	Required for both high-affinity DNA binding and pericentromeric heterochromatin localization. {ECO:0000250}.				B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CATTCACCCAGAAGGGCAACC	0.612			"""D,T"""	BCL6	"""ALL, DLBCL"""																																	uc003tow.3		NA		"""Rec,Dom"""	yes		7	7p12.2	10320	D	IKAROS family zinc finger 1			L			ALL		131	Unknown(131)	p.?(74)	haematopoietic_and_lymphoid_tissue(131)	haematopoietic_and_lymphoid_tissue(147)|lung(1)	148						c.(466-468)CAG>CAA		zinc finger protein, subfamily 1A, 1 (Ikaros)							31.0	36.0	34.0					7																	50450284		2146	4259	6405	SO:0001819	synonymous_variant	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50450284G>A	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.468G>A	7.37:g.50450284G>A						IKZF1_uc003tox.3_Silent_p.Q156Q|IKZF1_uc003toy.3_Silent_p.Q156Q|IKZF1_uc011kck.1_Silent_p.Q69Q|IKZF1_uc003toz.3_Silent_p.Q126Q|IKZF1_uc010kyx.2_Intron	p.Q156Q	NM_006060	NP_006051	Q13422	IKZF1_HUMAN			6	636	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	156			Required for both high-affinity DNA binding and pericentromeric heterochromatin localization (By similarity).|C2H2-type 2.		A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Silent	SNP	ENST00000331340.3	37	c.468G>A																																																																																					0.612	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		5	25	0	0	0	0	5	25				
COBL	23242	broad.mit.edu	37	7	51261114	51261114	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:51261114C>T	ENST00000265136.7	-	3	583	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	COBL_ENST00000441453.1_Missense_Mutation_p.E140K|COBL_ENST00000395542.2_Missense_Mutation_p.E140K|COBL_ENST00000395540.2_Missense_Mutation_p.E140K	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	140					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					ACCTTCTCTTCAGGAACTTTT	0.453																																					NSCLC(189;2119 2138 12223 30818 34679)	uc003tpr.3		NA																	0				skin(3)|ovary(2)	5						c.(418-420)GAA>AAA		cordon-bleu homolog							96.0	89.0	91.0					7																	51261114		2203	4300	6503	SO:0001583	missense	23242							g.chr7:51261114C>T	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.418G>A	7.37:g.51261114C>T	ENSP00000265136:p.Glu140Lys					COBL_uc003tps.2_Missense_Mutation_p.E140K|COBL_uc011kcl.1_Missense_Mutation_p.E140K|COBL_uc010kzc.2_Missense_Mutation_p.E140K|COBL_uc003tpt.2_Missense_Mutation_p.E140K|COBL_uc003tpp.3_5'Flank|COBL_uc003tpq.3_Missense_Mutation_p.E56K	p.E140K	NM_015198	NP_056013	O75128	COBL_HUMAN			3	603	-	Glioma(55;0.08)		140					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.418G>A	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.712165	0.89112	.	.	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000395542;ENST00000395540;ENST00000441453;ENST00000449281	T;T;T;T;T	0.42900	0.96;1.74;0.96;0.96;0.96	5.58	5.58	0.84498	Cordon-bleu domain (1);	0.160951	0.29646	N	0.011563	T	0.65059	0.2655	M	0.69358	2.11	0.53005	D	0.999967	D;D;D;D;D	0.89917	1.0;1.0;0.998;0.998;1.0	D;D;D;D;D	0.91635	0.997;0.994;0.994;0.996;0.999	T	0.65899	-0.6056	10	0.62326	D	0.03	.	18.5559	0.91085	0.0:1.0:0.0:0.0	.	140;140;140;140;140	O75128-3;O75128-5;O75128-7;O75128;O75128-2	.;.;.;COBL_HUMAN;.	K	140;7;140;140;140;124	ENSP00000265136:E140K;ENSP00000401204:E7K;ENSP00000378912:E140K;ENSP00000378910:E140K;ENSP00000399500:E140K	ENSP00000265136:E140K	E	-	1	0	COBL	51228608	1.000000	0.71417	0.937000	0.37676	0.995000	0.86356	5.687000	0.68219	2.617000	0.88574	0.655000	0.94253	GAA		0.453	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		14	77	0	0	0	0	14	77				
AUTS2	26053	broad.mit.edu	37	7	70252204	70252204	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:70252204C>G	ENST00000342771.4	+	18	2639	c.2318C>G	c.(2317-2319)tCa>tGa	p.S773*	AUTS2_ENST00000406775.2_Nonsense_Mutation_p.S749*	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	773										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GCACCCAACTCAATGTTCGGC	0.473																																						uc003tvw.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2317-2319)TCA>TGA		autism susceptibility candidate 2 isoform 1							53.0	43.0	46.0					7																	70252204		2203	4300	6503	SO:0001587	stop_gained	26053							g.chr7:70252204C>G	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.2318C>G	7.37:g.70252204C>G	ENSP00000344087:p.Ser773*					AUTS2_uc003tvx.3_Nonsense_Mutation_p.S749*|AUTS2_uc011keg.1_Nonsense_Mutation_p.S225*	p.S773*	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	18	3061	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	773					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Nonsense_Mutation	SNP	ENST00000342771.4	37	c.2318C>G	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	C	34	5.338422	0.95783	.	.	ENSG00000158321	ENST00000406775;ENST00000342771;ENST00000418686	.	.	.	5.33	5.33	0.75918	.	0.369288	0.29021	N	0.013396	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.5613	19.0137	0.92884	0.0:1.0:0.0:0.0	.	.	.	.	X	749;773;53	.	.	S	+	2	0	AUTS2	69890140	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.602000	0.61098	2.505000	0.84491	0.655000	0.94253	TCA		0.473	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			7	21	0	0	0	0	7	21				
SEMA3A	10371	broad.mit.edu	37	7	83610791	83610791	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:83610791G>T	ENST00000265362.4	-	14	1812	c.1498C>A	c.(1498-1500)Caa>Aaa	p.Q500K	SEMA3A_ENST00000436949.1_Missense_Mutation_p.Q500K	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	500	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ATATATAGTTGTTGCTGTGGA	0.418																																						uc003uhz.2		NA																	0				ovary(2)|breast(1)|kidney(1)	4						c.(1498-1500)CAA>AAA		semaphorin 3A precursor							55.0	56.0	56.0					7																	83610791		2203	4300	6503	SO:0001583	missense	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83610791G>T	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.1498C>A	7.37:g.83610791G>T	ENSP00000265362:p.Gln500Lys						p.Q500K	NM_006080	NP_006071	Q14563	SEM3A_HUMAN			14	1813	-			500			Sema.			Missense_Mutation	SNP	ENST00000265362.4	37	c.1498C>A	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	G	31	5.089886	0.94149	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.22134	1.97;1.97	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.000000	0.85682	D	0.000000	T	0.36635	0.0974	M	0.72118	2.19	0.80722	D	1	D	0.59767	0.986	P	0.48738	0.588	T	0.10917	-1.0609	10	0.51188	T	0.08	.	19.8579	0.96771	0.0:0.0:1.0:0.0	.	500	Q14563	SEM3A_HUMAN	K	500	ENSP00000265362:Q500K;ENSP00000415260:Q500K	ENSP00000265362:Q500K	Q	-	1	0	SEMA3A	83448727	1.000000	0.71417	0.996000	0.52242	0.707000	0.40811	9.807000	0.99171	2.687000	0.91594	0.655000	0.94253	CAA		0.418	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		4	9	1	0	2.56e-06	2.7e-06	4	9				
MTERF1	7978	broad.mit.edu	37	7	91503289	91503289	+	Silent	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:91503289C>G	ENST00000351870.3	-	3	912	c.819G>C	c.(817-819)ctG>ctC	p.L273L	MTERF_ENST00000406735.2_Silent_p.L253L|MTERF_ENST00000481516.1_5'Flank|MTERF_ENST00000419292.1_Silent_p.L253L	NM_006980.3	NP_008911.1	Q99551	MTEF1_HUMAN		273					DNA geometric change (GO:0032392)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of mitochondrial transcription (GO:0006393)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			GACCACATATCAGAACCAGCA	0.413																																						uc003ulb.1		NA																	0					0						c.(817-819)CTG>CTC		mitochondrial transcription termination factor							51.0	50.0	51.0					7																	91503289		2203	4300	6503	SO:0001819	synonymous_variant	7978				DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding	g.chr7:91503289C>G																												ENST00000351870.3:c.819G>C	7.37:g.91503289C>G						MTERF_uc010let.1_Intron|MTERF_uc003ulc.1_Silent_p.L273L|MTERF_uc011khm.1_Silent_p.L253L|MTERF_uc010leu.1_Silent_p.L253L	p.L273L	NM_006980	NP_008911	Q99551	MTERF_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)		2	863	-	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		273					A4D1E3|Q32NF8|Q53H51|Q9BVR7	Silent	SNP	ENST00000351870.3	37	c.819G>C	CCDS5621.1																																																																																				0.413	MTERF-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000342896.1			10	46	0	0	0	0	10	46				
CALCR	799	broad.mit.edu	37	7	93098029	93098029	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:93098029G>A	ENST00000394441.1	-	6	834	c.519C>T	c.(517-519)ttC>ttT	p.F173F	CALCR_ENST00000421592.1_Silent_p.F173F|CALCR_ENST00000426151.1_Silent_p.F173F|CALCR_ENST00000360249.4_Silent_p.F173F|CALCR_ENST00000359558.2_Silent_p.F191F	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	191					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	GTACTTACCTGAAAAACACGA	0.418																																						uc003umv.1		NA																	0				ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(571-573)TTC>TTT		calcitonin receptor isoform 2 precursor	Salmon Calcitonin(DB00017)						105.0	98.0	100.0					7																	93098029		2203	4300	6503	SO:0001819	synonymous_variant	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding	g.chr7:93098029G>A	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.519C>T	7.37:g.93098029G>A						CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Silent_p.F173F|CALCR_uc003umw.2_Silent_p.F173F	p.F191F	NM_001742	NP_001733	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		7	834	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		173			Helical; Name=1; (Potential).		A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Silent	SNP	ENST00000394441.1	37	c.573C>T	CCDS5631.1																																																																																				0.418	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		6	38	0	0	0	0	6	38				
COL1A2	1278	broad.mit.edu	37	7	94052411	94052411	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:94052411C>T	ENST00000297268.6	+	40	3017	c.2546C>T	c.(2545-2547)tCt>tTt	p.S849F		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	849			Missing (in OI2). {ECO:0000269|PubMed:1339453}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AAGGGTCCCTCTGGAGAGGCT	0.507										HNSCC(75;0.22)																												uc003ung.1		NA																COL1A2/PLAG1(3)	0				soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(2545-2547)TCT>TTT		alpha 2 type I collagen precursor	Collagenase(DB00048)						122.0	114.0	117.0					7																	94052411		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94052411C>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2546C>T	7.37:g.94052411C>T	ENSP00000297268:p.Ser849Phe	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	p.S849F	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		40	3017	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		849		Missing (in OI2A).			P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.2546C>T	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727270	0.48833	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.93547	-3.24	5.23	4.32	0.51571	.	0.546683	0.20250	N	0.096114	D	0.90769	0.7102	L	0.41236	1.265	0.44927	D	0.997949	B	0.28208	0.203	B	0.35899	0.213	D	0.89104	0.3491	10	0.87932	D	0	.	11.6235	0.51132	0.1397:0.7256:0.1346:0.0	.	849	P08123	CO1A2_HUMAN	F	849;850	ENSP00000297268:S849F	ENSP00000297268:S849F	S	+	2	0	COL1A2	93890347	0.996000	0.38824	0.767000	0.31495	0.910000	0.53928	3.282000	0.51693	1.283000	0.44513	0.563000	0.77884	TCT		0.507	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		15	91	0	0	0	0	15	91				
C7orf43	55262	broad.mit.edu	37	7	99753354	99753354	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:99753354C>T	ENST00000316937.3	-	9	1520	c.1335G>A	c.(1333-1335)cgG>cgA	p.R445R	C7orf43_ENST00000394035.2_Silent_p.R21R|C7orf43_ENST00000498638.1_5'Flank|C7orf43_ENST00000419841.1_Silent_p.R213R|MIR4658_ENST00000584344.1_RNA|C7orf43_ENST00000457641.1_Silent_p.R176R	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	445										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGCTGCCCTTCCGGGAAAAGC	0.657																																						uc003utr.2		NA																	0					0						c.(1333-1335)CGG>CGA		hypothetical protein LOC55262							76.0	76.0	76.0					7																	99753354		2203	4300	6503	SO:0001819	synonymous_variant	55262							g.chr7:99753354C>T		CCDS5687.1	7q22.1	2011-11-25			ENSG00000146826	ENSG00000146826			25604	protein-coding gene	gene with protein product						12477932	Standard	NM_018275		Approved	FLJ10925	uc003utr.3	Q8WVR3	OTTHUMG00000154862	ENST00000316937.3:c.1335G>A	7.37:g.99753354C>T						C7orf43_uc010lgo.2_Silent_p.R71R|C7orf43_uc010lgp.2_Silent_p.R67R|C7orf43_uc011kjj.1_Silent_p.R213R|C7orf43_uc003uts.2_Silent_p.R176R	p.R445R	NM_018275	NP_060745	Q8WVR3	CG043_HUMAN			9	1515	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		445					A4D2A9|D6W5U4|Q9BQJ1|Q9BUB6|Q9NV47	Silent	SNP	ENST00000316937.3	37	c.1335G>A	CCDS5687.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.362984	0.41902	.	.	ENSG00000146826	ENST00000456769	.	.	.	5.66	-0.254	0.12992	.	.	.	.	.	T	0.56262	0.1973	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52170	-0.8611	4	.	.	.	-19.3487	9.941	0.41580	0.0:0.2824:0.6255:0.0921	.	.	.	.	K	351	.	.	E	-	1	0	C7orf43	99591290	0.990000	0.36364	1.000000	0.80357	0.995000	0.86356	0.059000	0.14322	0.266000	0.21894	0.561000	0.74099	GAA		0.657	C7orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337395.2	NM_018275		30	120	0	0	0	0	30	120				
PSMC2	5701	broad.mit.edu	37	7	103006550	103006550	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:103006550G>C	ENST00000435765.1	+	10	1195	c.784G>C	c.(784-786)Gaa>Caa	p.E262Q	SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000339444.6_Intron|PSMC2_ENST00000544811.1_Missense_Mutation_p.E125Q|SLC26A5_ENST00000393735.2_Intron|PSMC2_ENST00000292644.3_Missense_Mutation_p.E262Q	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	262					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						TGAACTCTTTGAAATGGCCAG	0.323																																						uc003vbs.2		NA																	0					0						c.(784-786)GAA>CAA		proteasome 26S ATPase subunit 2							111.0	120.0	117.0					7																	103006550		2203	4300	6503	SO:0001583	missense	5701				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr7:103006550G>C	D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9548	protein-coding gene	gene with protein product	"""proteasome 26S subunit, ATPase, 2"", ""mammalian suppressor of sgv-1 of yeast"", ""protease 26S subunit 7"", ""putative protein product of Nbla10058"""	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.784G>C	7.37:g.103006550G>C	ENSP00000391211:p.Glu262Gln					SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Missense_Mutation_p.E125Q	p.E262Q	NM_002803	NP_002794	P35998	PRS7_HUMAN			9	854	+			262					A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Missense_Mutation	SNP	ENST00000435765.1	37	c.784G>C	CCDS5731.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.877879	0.33162	.	.	ENSG00000161057	ENST00000435765;ENST00000292644;ENST00000544811	D;D;D	0.92752	-3.1;-3.1;-3.1	5.41	5.41	0.78517	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.85128	0.5626	N	0.11845	0.185	0.80722	D	1	B	0.20164	0.042	B	0.25884	0.064	T	0.80151	-0.1502	10	0.11794	T	0.64	-25.1676	19.2559	0.93945	0.0:0.0:1.0:0.0	.	262	P35998	PRS7_HUMAN	Q	262;262;125	ENSP00000391211:E262Q;ENSP00000292644:E262Q;ENSP00000445546:E125Q	ENSP00000292644:E262Q	E	+	1	0	PSMC2	102793786	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.241000	0.72369	2.563000	0.86464	0.585000	0.79938	GAA		0.323	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1	NM_002803		40	51	0	0	0	0	40	51				
RELN	5649	broad.mit.edu	37	7	103155675	103155675	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:103155675G>A	ENST00000428762.1	-	50	8235	c.8076C>T	c.(8074-8076)gtC>gtT	p.V2692V	RELN_ENST00000343529.5_Silent_p.V2692V|RELN_ENST00000424685.2_Silent_p.V2692V|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2692					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CGATCCTCCCGACAGGGCCGG	0.517																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(8074-8076)GTC>GTT		reelin isoform a							41.0	43.0	42.0					7																	103155675		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103155675G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.8076C>T	7.37:g.103155675G>A						RELN_uc010liz.2_Silent_p.V2692V	p.V2692V	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	50	8236	-			2692					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.8076C>T	CCDS47680.1																																																																																				0.517	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		6	39	0	0	0	0	6	39				
EXOC4	60412	broad.mit.edu	37	7	133059592	133059592	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:133059592G>A	ENST00000253861.4	+	7	1047	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	EXOC4_ENST00000539845.1_Missense_Mutation_p.E239K|EXOC4_ENST00000393161.2_Missense_Mutation_p.E340K	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	340					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GTTGCTTCTAGAACTGCTGGA	0.423																																						uc003vrk.2		NA																	0				ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9						c.(1018-1020)GAA>AAA		SEC8 protein isoform a							134.0	125.0	128.0					7																	133059592		2203	4300	6503	SO:0001583	missense	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133059592G>A	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.1018G>A	7.37:g.133059592G>A	ENSP00000253861:p.Glu340Lys					EXOC4_uc011kpo.1_Missense_Mutation_p.E239K|EXOC4_uc003vri.2_Missense_Mutation_p.E340K|EXOC4_uc003vrj.2_Missense_Mutation_p.E340K	p.E340K	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN			7	1053	+		Esophageal squamous(399;0.129)	340					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	c.1018G>A	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442564	0.83993	.	.	ENSG00000131558	ENST00000253861;ENST00000393161;ENST00000539845	.	.	.	5.89	5.89	0.94794	.	0.051361	0.85682	D	0.000000	T	0.68595	0.3018	M	0.68952	2.095	0.80722	D	1	P;P	0.52316	0.952;0.952	P;P	0.46452	0.517;0.517	T	0.69247	-0.5195	9	0.45353	T	0.12	.	19.8478	0.96722	0.0:0.0:1.0:0.0	.	340;340	Q96A65;Q8TAR2	EXOC4_HUMAN;.	K	340;340;239	.	ENSP00000253861:E340K	E	+	1	0	EXOC4	132710132	1.000000	0.71417	0.978000	0.43139	0.938000	0.57974	9.140000	0.94607	2.788000	0.95919	0.557000	0.71058	GAA		0.423	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		17	39	0	0	0	0	17	39				
ZC3HAV1	56829	broad.mit.edu	37	7	138764323	138764323	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:138764323C>G	ENST00000242351.5	-	4	1680	c.1364G>C	c.(1363-1365)aGa>aCa	p.R455T	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.R455T|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.R455T	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	455					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TGATATTTCTCTGTGACCGCT	0.468																																						uc003vun.2		NA																	0				ovary(1)	1						c.(1363-1365)AGA>ACA		zinc finger antiviral protein isoform 1							114.0	111.0	112.0					7																	138764323		2203	4300	6503	SO:0001583	missense	56829				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	g.chr7:138764323C>G	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.1364G>C	7.37:g.138764323C>G	ENSP00000242351:p.Arg455Thr					ZC3HAV1_uc003vuo.2_5'Flank|ZC3HAV1_uc003vup.2_Missense_Mutation_p.R455T	p.R455T	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN			4	1752	-			455					A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	ENST00000242351.5	37	c.1364G>C	CCDS5851.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.659179	0.47467	.	.	ENSG00000105939	ENST00000242351;ENST00000464606;ENST00000471652;ENST00000540247	T;T;T	0.20200	2.99;3.19;2.09	4.58	0.687	0.18020	.	0.511003	0.18425	N	0.141605	T	0.18841	0.0452	L	0.34521	1.04	0.09310	N	1	D;D	0.56035	0.974;0.969	P;P	0.53861	0.736;0.585	T	0.15867	-1.0422	10	0.12766	T	0.61	.	5.9767	0.19385	0.0:0.5292:0.0:0.4708	.	455;455	Q7Z2W4-2;Q7Z2W4	.;ZCCHV_HUMAN	T	455;455;455;215	ENSP00000242351:R455T;ENSP00000418385:R455T;ENSP00000419855:R455T	ENSP00000242351:R455T	R	-	2	0	ZC3HAV1	138414863	0.002000	0.14202	0.009000	0.14445	0.038000	0.13279	0.328000	0.19681	0.246000	0.21394	0.655000	0.94253	AGA		0.468	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		24	41	0	0	0	0	24	41				
ZNF212	7988	broad.mit.edu	37	7	148947893	148947893	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr7:148947893C>G	ENST00000335870.2	+	3	664	c.536C>G	c.(535-537)tCt>tGt	p.S179C		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	179	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			ACACTGGTCTCTCTGAGTGAG	0.498																																						uc003wfp.2		NA																	0				ovary(1)	1						c.(535-537)TCT>TGT		zinc finger protein 212							151.0	149.0	150.0					7																	148947893		2203	4300	6503	SO:0001583	missense	7988				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr7:148947893C>G	U38864	CCDS5896.1	7q36.1	2013-01-08			ENSG00000170260	ENSG00000170260		"""Zinc fingers, C2H2-type"", ""-"""	13004	protein-coding gene	gene with protein product		602386				9169157	Standard	NM_012256		Approved	C2H2-150	uc003wfp.3	Q9UDV6	OTTHUMG00000158968	ENST00000335870.2:c.536C>G	7.37:g.148947893C>G	ENSP00000338572:p.Ser179Cys						p.S179C	NM_012256	NP_036388	Q9UDV6	ZN212_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)		3	632	+	Melanoma(164;0.15)		179			KRAB.		B2RCF4|Q13396|Q8N664	Missense_Mutation	SNP	ENST00000335870.2	37	c.536C>G	CCDS5896.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182876	0.78677	.	.	ENSG00000170260	ENST00000335870	T	0.03272	3.99	5.61	5.61	0.85477	Krueppel-associated box (4);	0.000000	0.48286	D	0.000188	T	0.18299	0.0439	M	0.70595	2.14	0.39387	D	0.96635	D	0.89917	1.0	D	0.87578	0.998	T	0.00071	-1.2131	10	0.72032	D	0.01	-12.3961	17.1284	0.86720	0.0:1.0:0.0:0.0	.	179	Q9UDV6	ZN212_HUMAN	C	179	ENSP00000338572:S179C	ENSP00000338572:S179C	S	+	2	0	ZNF212	148578826	0.970000	0.33590	1.000000	0.80357	0.998000	0.95712	2.489000	0.45285	2.641000	0.89580	0.655000	0.94253	TCT		0.498	ZNF212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352710.1	NM_012256		19	44	0	0	0	0	19	44				
PINX1	54984	broad.mit.edu	37	8	10683716	10683716	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr8:10683716C>T	ENST00000314787.3	-	5	459	c.340G>A	c.(340-342)Gag>Aag	p.E114K	PINX1_ENST00000426190.2_Missense_Mutation_p.E112K|PINX1_ENST00000519088.1_Missense_Mutation_p.E114K|SOX7_ENST00000553390.1_Missense_Mutation_p.E114K|SOX7_ENST00000554914.1_Missense_Mutation_p.E114K	NM_017884.4	NP_060354.4	Q96BK5	PINX1_HUMAN	PIN2/TERF1 interacting, telomerase inhibitor 1	114					mitotic metaphase plate congression (GO:0007080)|negative regulation of cell proliferation (GO:0008285)|negative regulation of telomerase activity (GO:0051974)|regulation of telomerase activity (GO:0051972)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|spindle (GO:0005819)	telomerase inhibitor activity (GO:0010521)|telomeric RNA binding (GO:0070034)			kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		GACTTTTCCTCAAGGCTAAAA	0.299																																						uc011kwz.1		NA																	0				breast(1)	1						c.(340-342)GAG>AAG		SRY-box 7							93.0	87.0	89.0					8																	10683716		1812	4079	5891	SO:0001583	missense	83595				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	g.chr8:10683716C>T	AF418553	CCDS47801.1, CCDS64825.1	8p23	2013-01-28				ENSG00000254093		"""G patch domain containing"""	30046	protein-coding gene	gene with protein product	"""PIN2 interacting protein 1"", ""liver-related putative tumor suppressor"""	606505				11003615, 11701125	Standard	NM_001284356		Approved	PinX1, LPTL, LPTS, FLJ20565, MGC8850		Q96BK5		ENST00000314787.3:c.340G>A	8.37:g.10683716C>T	ENSP00000318966:p.Glu114Lys					PINX1_uc003wth.2_Missense_Mutation_p.E114K|PINX1_uc003wti.2_Missense_Mutation_p.E114K|MIR1322_hsa-mir-1322|MI0006653_5'Flank	p.E114K	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN		COAD - Colon adenocarcinoma(149;0.0732)	5	373	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B2R9B1|Q548A5|Q6QWG9|Q7Z7J8|Q96QD7|Q9HBU7|Q9NWW2	Missense_Mutation	SNP	ENST00000314787.3	37	c.340G>A	CCDS47801.1	.	.	.	.	.	.	.	.	.	.	C	33	5.241753	0.95272	.	.	ENSG00000171056;ENSG00000258724;ENSG00000254093;ENSG00000254093;ENSG00000254093;ENSG00000254093	ENST00000553390;ENST00000554914;ENST00000314787;ENST00000426190;ENST00000519088;ENST00000524114	D;D;T;T	0.99494	-6.01;-6.01;2.68;2.68	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.99576	0.9847	M	0.88105	2.93	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.996;0.94;0.998	D	0.98319	1.0527	10	0.59425	D	0.04	.	17.0096	0.86401	0.0:1.0:0.0:0.0	.	114;114;114	B4DKV0;Q96BK5-2;Q96BK5	.;.;PINX1_HUMAN	K	114;114;114;112;114;124	ENSP00000452017:E114K;ENSP00000451145:E114K;ENSP00000318966:E114K;ENSP00000428728:E124K	ENSP00000318966:E114K	E	-	1	0	SOX7;CTD-2135J3.4;PINX1	10721126	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.927000	0.75840	2.602000	0.87976	0.650000	0.86243	GAG		0.299	PINX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375683.1	NM_017884		12	6	0	0	0	0	12	6				
SGCZ	137868	broad.mit.edu	37	8	14022158	14022158	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr8:14022158C>T	ENST00000382080.1	-	5	1193	c.478G>A	c.(478-480)Gat>Aat	p.D160N	SGCZ_ENST00000421524.2_Missense_Mutation_p.D113N|RP11-3G21.1_ENST00000527110.1_RNA	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	147					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		ACCCTGCCATCTTCACTGGCT	0.423																																						uc003wwq.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(478-480)GAT>AAT		sarcoglycan zeta							122.0	106.0	112.0					8																	14022158		2203	4300	6503	SO:0001583	missense	137868				cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		g.chr8:14022158C>T	AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.478G>A	8.37:g.14022158C>T	ENSP00000371512:p.Asp160Asn					SGCZ_uc010lss.2_Missense_Mutation_p.D113N	p.D160N	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN		all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)	5	1138	-			147			Extracellular (Potential).		Q6REU0	Missense_Mutation	SNP	ENST00000382080.1	37	c.478G>A	CCDS5992.2	.	.	.	.	.	.	.	.	.	.	C	14.92	2.680781	0.47886	.	.	ENSG00000185053	ENST00000382080;ENST00000421524	T;T	0.18960	2.18;2.18	5.31	3.37	0.38596	.	0.315111	0.38164	N	0.001785	T	0.14570	0.0352	L	0.40543	1.245	0.33436	D	0.581799	B;B	0.27910	0.193;0.069	B;B	0.27715	0.081;0.082	T	0.15665	-1.0429	10	0.19590	T	0.45	.	7.1748	0.25738	0.1282:0.6743:0.1245:0.073	.	113;160	Q08AT0;Q96LD1-2	.;.	N	160;113	ENSP00000371512:D160N;ENSP00000405224:D113N	ENSP00000371512:D160N	D	-	1	0	SGCZ	14066529	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.042000	0.41222	1.342000	0.45619	0.591000	0.81541	GAT		0.423	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207636.2	NM_139167		14	29	0	0	0	0	14	29				
RP1	6101	broad.mit.edu	37	8	55537868	55537868	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr8:55537868C>G	ENST00000220676.1	+	4	1574	c.1426C>G	c.(1426-1428)Caa>Gaa	p.Q476E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	476					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AACTGAGGTTCAAGAGAAAAT	0.388																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NA																	0				skin(7)|ovary(4)|pancreas(1)	12						c.(1426-1428)CAA>GAA		retinitis pigmentosa RP1 protein							70.0	70.0	70.0					8																	55537868		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55537868C>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1426C>G	8.37:g.55537868C>G	ENSP00000220676:p.Gln476Glu					RP1_uc011ldy.1_Intron	p.Q476E	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	1574	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	476						Missense_Mutation	SNP	ENST00000220676.1	37	c.1426C>G	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	9.014	0.983147	0.18889	.	.	ENSG00000104237	ENST00000220676	T	0.27557	1.66	5.39	1.07	0.20283	.	0.613108	0.15497	N	0.259215	T	0.17109	0.0411	N	0.12746	0.255	0.38425	D	0.946292	B	0.17465	0.022	B	0.14578	0.011	T	0.09885	-1.0654	10	0.21540	T	0.41	.	13.7651	0.62990	0.105:0.5562:0.3387:0.0	.	476	P56715	RP1_HUMAN	E	476	ENSP00000220676:Q476E	ENSP00000220676:Q476E	Q	+	1	0	RP1	55700421	0.998000	0.40836	0.970000	0.41538	0.996000	0.88848	1.360000	0.34125	0.232000	0.21100	0.655000	0.94253	CAA		0.388	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		18	45	0	0	0	0	18	45				
RPS20	6224	broad.mit.edu	37	8	56985678	56985678	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr8:56985678C>T	ENST00000521262.1	-	4	584	c.331G>A	c.(331-333)Gag>Aag	p.E111K	RPS20_ENST00000519606.1_3'UTR|RPS20_ENST00000519807.1_Missense_Mutation_p.E111K|RPS20_ENST00000520627.1_Missense_Mutation_p.E56K|RPS20_ENST00000009589.3_Missense_Mutation_p.E111K|SNORD54_ENST00000459159.1_RNA|RPS20_ENST00000523936.1_3'UTR|CTA-397H3.3_ENST00000521403.1_RNA|RPS20_ENST00000524349.1_Missense_Mutation_p.E56K|RPS20_ENST00000520490.1_5'UTR			P60866	RS20_HUMAN	ribosomal protein S20	111					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)						all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155)	Epithelial(17;0.00117)|all cancers(17;0.00879)			ACTTCCACCTCAACTCCTGGC	0.388																																						uc003xsn.2		NA																	0					0						c.(331-333)GAG>AAG		ribosomal protein S20 isoform 2							52.0	57.0	55.0					8																	56985678		2052	3898	5950	SO:0001583	missense	6224				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr8:56985678C>T	L06498	CCDS6163.1, CCDS55231.1	8q12.1	2011-04-05				ENSG00000008988		"""S ribosomal proteins"""	10405	protein-coding gene	gene with protein product		603682				9582194, 8479924	Standard	NM_001023		Approved	S20	uc003xsm.2	P60866		ENST00000521262.1:c.331G>A	8.37:g.56985678C>T	ENSP00000427788:p.Glu111Lys					RPS20_uc003xsm.2_Missense_Mutation_p.E111K	p.E111K	NM_001023	NP_001014	P60866	RS20_HUMAN	Epithelial(17;0.00117)|all cancers(17;0.00879)		4	529	-		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155)	111					B2R4F4|B4DW28|P17075|Q5M8S9	Missense_Mutation	SNP	ENST00000521262.1	37	c.331G>A		.	.	.	.	.	.	.	.	.	.	C	26.1	4.703476	0.88924	.	.	ENSG00000008988	ENST00000519807;ENST00000009589;ENST00000524349;ENST00000521262;ENST00000520627	.	.	.	5.06	5.06	0.68205	.	0.055178	0.64402	D	0.000001	T	0.80803	0.4693	M	0.88906	2.99	0.80722	D	1	B;B	0.28378	0.209;0.045	B;B	0.38156	0.266;0.072	T	0.82026	-0.0661	9	0.56958	D	0.05	-60.2834	18.5097	0.90911	0.0:1.0:0.0:0.0	.	111;111	P60866;B4DW28	RS20_HUMAN;.	K	111;111;56;111;56	.	ENSP00000009589:E111K	E	-	1	0	RPS20	57148232	1.000000	0.71417	0.933000	0.37362	0.990000	0.78478	7.672000	0.83956	2.350000	0.79820	0.586000	0.80456	GAG		0.388	RPS20-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000378166.1	NM_001023		18	33	0	0	0	0	18	33				
RRS1	23212	broad.mit.edu	37	8	67341837	67341837	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr8:67341837G>A	ENST00000320270.2	+	1	575	c.471G>A	c.(469-471)ctG>ctA	p.L157L	RP11-346I3.4_ENST00000499642.1_lincRNA|ADHFE1_ENST00000415254.1_5'Flank|ADHFE1_ENST00000379385.4_5'Flank|ADHFE1_ENST00000396623.3_5'Flank	NM_015169.3	NP_055984.1	Q15050	RRS1_HUMAN	RRS1 ribosome biogenesis regulator homolog (S. cerevisiae)	157					hematopoietic progenitor cell differentiation (GO:0002244)|mitotic metaphase plate congression (GO:0007080)|ribosome biogenesis (GO:0042254)	condensed nuclear chromosome (GO:0000794)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(2)|lung(2)	4		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			AAGAATGGCTGATTGAGGTGC	0.637																																						uc003xwa.2		NA																	0					0						c.(469-471)CTG>CTA		homolog of yeast ribosome biogenesis regulatory							29.0	31.0	30.0					8																	67341837		2200	4300	6500	SO:0001819	synonymous_variant	23212				mitotic metaphase plate congression|ribosome biogenesis	condensed nuclear chromosome|nucleolus		g.chr8:67341837G>A	BC001811	CCDS6189.1	8q13.1	2013-10-22			ENSG00000179041	ENSG00000179041			17083	protein-coding gene	gene with protein product						7788527, 10688653	Standard	NM_015169		Approved	KIAA0112	uc003xwa.3	Q15050	OTTHUMG00000164765	ENST00000320270.2:c.471G>A	8.37:g.67341837G>A						ADHFE1_uc003xwb.3_5'Flank|ADHFE1_uc003xwd.3_5'Flank|ADHFE1_uc003xwc.3_5'Flank|ADHFE1_uc003xwe.3_5'Flank|ADHFE1_uc003xwf.3_5'Flank|ADHFE1_uc011les.1_5'Flank|ADHFE1_uc011leq.1_5'Flank|ADHFE1_uc011ler.1_5'Flank	p.L157L	NM_015169	NP_055984	Q15050	RRS1_HUMAN	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)		1	575	+		Lung NSC(129;0.197)	157					Q9BUX8	Silent	SNP	ENST00000320270.2	37	c.471G>A	CCDS6189.1																																																																																				0.637	RRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380126.1	NM_015169		13	19	0	0	0	0	13	19				
CA3	761	broad.mit.edu	37	8	86360296	86360296	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr8:86360296G>A	ENST00000285381.2	+	7	780	c.697G>A	c.(697-699)Gag>Aag	p.E233K	RP11-317J10.2_ENST00000521761.1_RNA|RP11-317J10.2_ENST00000517697.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	233					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|response to ethanol (GO:0045471)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|nickel cation binding (GO:0016151)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23					Acetazolamide(DB00819)|Zonisamide(DB00909)	CTCCAGTGCTGAGAACGAGCC	0.542																																						uc003ydj.2		NA																	0					0						c.(697-699)GAG>AAG		carbonic anhydrase III							59.0	50.0	53.0					8																	86360296		2203	4300	6503	SO:0001583	missense	761				one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding	g.chr8:86360296G>A	AJ006473	CCDS6238.1	8q21.2	2012-10-02					4.2.1.1	"""Carbonic anhydrases"""	1374	protein-coding gene	gene with protein product		114750				6221502	Standard	NM_005181		Approved	Car3, CAIII	uc003ydj.3	P07451		ENST00000285381.2:c.697G>A	8.37:g.86360296G>A	ENSP00000285381:p.Glu233Lys					CA3_uc011lfv.1_RNA	p.E233K	NM_005181	NP_005172	P07451	CAH3_HUMAN			7	780	+			233					B2R867|B3KUC8|O60842	Missense_Mutation	SNP	ENST00000285381.2	37	c.697G>A	CCDS6238.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915927	0.92178	.	.	ENSG00000164879	ENST00000285381;ENST00000426378	T	0.66460	-0.21	5.5	5.5	0.81552	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.100973	0.64402	D	0.000001	T	0.81683	0.4874	M	0.77820	2.39	0.58432	D	0.999999	D	0.67145	0.996	D	0.74348	0.983	T	0.81604	-0.0857	10	0.44086	T	0.13	-35.2202	16.884	0.86071	0.0:0.0:1.0:0.0	.	233	P07451	CAH3_HUMAN	K	233;217	ENSP00000285381:E233K	ENSP00000285381:E233K	E	+	1	0	CA3	86547548	1.000000	0.71417	0.933000	0.37362	0.667000	0.39255	8.116000	0.89574	2.586000	0.87340	0.561000	0.74099	GAG		0.542	CA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381090.1	NM_005181		14	17	0	0	0	0	14	17				
SDC2	6383	broad.mit.edu	37	8	97620608	97620608	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr8:97620608G>C	ENST00000302190.4	+	4	1273	c.352G>C	c.(352-354)Gaa>Caa	p.E118Q	SDC2_ENST00000522911.1_Missense_Mutation_p.E89Q|SDC2_ENST00000518385.1_Missense_Mutation_p.E82Q|SDC2_ENST00000519914.1_Missense_Mutation_p.E89Q	NM_002998.3	NP_002989.2	P34741	SDC2_HUMAN	syndecan 2	118					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dendrite morphogenesis (GO:0048813)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|regulation of dendrite morphogenesis (GO:0048814)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)			breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2)	16	Breast(36;3.41e-05)				Sargramostim(DB00020)	CTCTGACTCAGAAAGGAAAAT	0.418																																						uc003yhv.1		NA																	0				ovary(2)	2						c.(352-354)GAA>CAA		syndecan 2 precursor	Sargramostim(DB00020)						90.0	86.0	87.0					8																	97620608		2203	4300	6503	SO:0001583	missense	6383					integral to plasma membrane	cytoskeletal protein binding|PDZ domain binding	g.chr8:97620608G>C	BC030133	CCDS6272.1	8q22-q23	2011-08-11	2007-02-15		ENSG00000169439	ENSG00000169439		"""Proteoglycans / Cell Surface : Syndecans"", ""CD molecules"""	10659	protein-coding gene	gene with protein product	"""syndecan proteoglycan 2"""	142460	"""heparan sulfate proteoglycan 1, cell surface-associated"""	HSPG, HSPG1		8187643	Standard	NM_002998		Approved	fibroglycan, SYND2, CD362	uc003yhv.1	P34741	OTTHUMG00000164689	ENST00000302190.4:c.352G>C	8.37:g.97620608G>C	ENSP00000307046:p.Glu118Gln					SDC2_uc011lgu.1_Missense_Mutation_p.E89Q	p.E118Q	NM_002998	NP_002989	P34741	SDC2_HUMAN			4	970	+	Breast(36;3.41e-05)		118			Extracellular (Potential).		B3KQA3|Q6PIS6|Q9H6V1	Missense_Mutation	SNP	ENST00000302190.4	37	c.352G>C	CCDS6272.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.984638	0.35036	.	.	ENSG00000169439	ENST00000302190;ENST00000518385;ENST00000545117;ENST00000546193;ENST00000522911;ENST00000519914;ENST00000521590;ENST00000523877	T;T;T;T;T	0.32988	1.47;1.43;1.46;1.46;1.47	6.17	5.3	0.74995	.	0.654924	0.16935	N	0.193531	T	0.22399	0.0540	N	0.22421	0.69	0.32668	N	0.517142	P	0.36354	0.549	B	0.37650	0.255	T	0.27468	-1.0073	10	0.31617	T	0.26	-7.9374	10.5083	0.44847	0.1575:0.0:0.8425:0.0	.	118	P34741	SDC2_HUMAN	Q	118;82;118;108;89;89;89;89	ENSP00000307046:E118Q;ENSP00000429045:E82Q;ENSP00000427784:E89Q;ENSP00000428256:E89Q;ENSP00000429121:E89Q	ENSP00000307046:E118Q	E	+	1	0	SDC2	97689784	1.000000	0.71417	0.999000	0.59377	0.355000	0.29361	3.328000	0.52052	1.635000	0.50512	0.655000	0.94253	GAA		0.418	SDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379750.1	NM_002998		7	28	0	0	0	0	7	28				
SYBU	55638	broad.mit.edu	37	8	110655123	110655123	+	Silent	SNP	A	A	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr8:110655123A>G	ENST00000422135.1	-	3	578	c.63T>C	c.(61-63)tcT>tcC	p.S21S	RP11-422N16.3_ENST00000499579.1_5'Flank|SYBU_ENST00000528331.1_Intron|SYBU_ENST00000424158.2_Silent_p.S26S|SYBU_ENST00000533065.1_Intron|SYBU_ENST00000408908.2_Silent_p.S21S|SYBU_ENST00000440310.1_Silent_p.S21S|SYBU_ENST00000533895.1_Silent_p.S20S|SYBU_ENST00000399066.3_Silent_p.S18S|SYBU_ENST00000419099.1_Silent_p.S20S|SYBU_ENST00000446070.2_Silent_p.S20S|SYBU_ENST00000532779.1_Intron|SYBU_ENST00000528647.1_Silent_p.S20S|SYBU_ENST00000408889.3_Intron|SYBU_ENST00000533171.1_Silent_p.S21S|SYBU_ENST00000433638.1_Silent_p.S21S|SYBU_ENST00000276646.9_Silent_p.S21S	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	21	Sufficient for interaction with KIF5B.				regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TTCGGCTTCGAGAAATCTCCT	0.478																																						uc003ynj.3		NA																	0				ovary(1)	1						c.(61-63)TCT>TCC		Golgi-localized syntaphilin-related protein							101.0	104.0	103.0					8																	110655123		1903	4139	6042	SO:0001819	synonymous_variant	55638					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		g.chr8:110655123A>G	AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.63T>C	8.37:g.110655123A>G						SYBU_uc003yni.3_Silent_p.S18S|SYBU_uc003ynk.3_Intron|SYBU_uc010mco.2_Silent_p.S20S|SYBU_uc003ynl.3_Silent_p.S20S|SYBU_uc010mcp.2_Silent_p.S21S|SYBU_uc010mcq.2_Silent_p.S21S|SYBU_uc003yno.3_Intron|SYBU_uc010mcr.2_Silent_p.S21S|SYBU_uc003ynm.3_Silent_p.S20S|SYBU_uc003ynn.3_Silent_p.S20S|SYBU_uc010mcs.2_Intron|SYBU_uc010mct.2_Silent_p.S21S|SYBU_uc010mcu.2_Silent_p.S20S|SYBU_uc003ynp.3_Intron|SYBU_uc010mcv.2_Silent_p.S21S|uc003ynq.1_5'Flank	p.S21S	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN			2	226	-			21			Sufficient for interaction with KIF5B.		A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Silent	SNP	ENST00000422135.1	37	c.63T>C	CCDS47912.1																																																																																				0.478	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786		21	45	0	0	0	0	21	45				
TNFRSF11B	4982	broad.mit.edu	37	8	119945204	119945204	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr8:119945204C>T	ENST00000297350.4	-	2	744	c.366G>A	c.(364-366)agG>agA	p.R122R		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	122					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			GAGGGCAGCTCCTATGTTTCA	0.493																																						uc003yon.3		NA																	0				central_nervous_system(2)	2						c.(364-366)AGG>AGA		osteoprotegerin precursor							51.0	54.0	53.0					8																	119945204		2203	4300	6503	SO:0001819	synonymous_variant	4982				apoptosis|skeletal system development		cytokine activity|receptor activity	g.chr8:119945204C>T	U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"""Tumor necrosis factor receptor superfamily"""	11909	protein-coding gene	gene with protein product		602643	"""osteoprotegerin"""	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.366G>A	8.37:g.119945204C>T						TNFRSF11B_uc010mdc.1_RNA	p.R122R	NM_002546	NP_002537	O00300	TR11B_HUMAN	STAD - Stomach adenocarcinoma(47;0.00193)		2	689	-	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		122			TNFR-Cys 3.		B2R9A8|O60236|Q53FX6|Q9UHP4	Silent	SNP	ENST00000297350.4	37	c.366G>A	CCDS6326.1																																																																																				0.493	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381220.1			11	31	0	0	0	0	11	31				
TOP1MT	116447	broad.mit.edu	37	8	144413487	144413487	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr8:144413487C>T	ENST00000329245.4	-	2	179	c.145G>A	c.(145-147)Gac>Aac	p.D49N	TOP1MT_ENST00000521193.1_5'UTR|TOP1MT_ENST00000519148.1_5'UTR|TOP1MT_ENST00000523676.1_5'UTR	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	49					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	TTCACCCCGTCTTCGTGCTTC	0.607																																						uc003yxz.2		NA																	0				ovary(1)	1						c.(145-147)GAC>AAC		mitochondrial topoisomerase I precursor	Irinotecan(DB00762)|Topotecan(DB01030)						136.0	115.0	122.0					8																	144413487		2203	4300	6503	SO:0001583	missense	116447				DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity	g.chr8:144413487C>T	AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.145G>A	8.37:g.144413487C>T	ENSP00000328835:p.Asp49Asn					TOP1MT_uc011lkd.1_5'UTR|TOP1MT_uc011lke.1_5'UTR|TOP1MT_uc010mfb.2_5'UTR|TOP1MT_uc010mfd.1_5'UTR	p.D49N	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		2	164	-	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		49					B7ZAR5|E7ES89|Q86ST4|Q86V82	Missense_Mutation	SNP	ENST00000329245.4	37	c.145G>A	CCDS6400.1	.	.	.	.	.	.	.	.	.	.	N	15.01	2.707699	0.48412	.	.	ENSG00000184428	ENST00000329245;ENST00000518007;ENST00000518760;ENST00000522043	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	3.34	2.42	0.29668	DNA topoisomerase I, DNA binding, mixed alpha/beta motif, eukaryotic-type (1);DNA topoisomerase I, DNA binding, eukaryotic-type (1);	1.801860	0.03920	U	0.283409	T	0.24160	0.0585	N	0.19112	0.55	0.80722	D	1	B	0.12630	0.006	B	0.18871	0.023	T	0.03443	-1.1036	10	0.49607	T	0.09	.	8.6562	0.34064	0.0:0.8791:0.0:0.1209	.	49	Q969P6	TOP1M_HUMAN	N	49;18;75;106	ENSP00000328835:D49N;ENSP00000430209:D18N;ENSP00000428723:D75N;ENSP00000428931:D106N	ENSP00000328835:D49N	D	-	1	0	TOP1MT	144484862	0.229000	0.23729	0.000000	0.03702	0.006000	0.05464	2.906000	0.48735	0.362000	0.24319	0.592000	0.82586	GAC		0.607	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3	NM_052963		35	17	0	0	0	0	35	17				
ZNF251	90987	broad.mit.edu	37	8	145948062	145948062	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr8:145948062C>T	ENST00000292562.7	-	5	1258	c.983G>A	c.(982-984)aGa>aAa	p.R328K	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	328					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		GCTAAAGCCTCTTCCACATTC	0.488																																						uc003zdv.3		NA																	0					0						c.(982-984)AGA>AAA		zinc finger protein 251							39.0	44.0	42.0					8																	145948062		2171	4295	6466	SO:0001583	missense	90987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:145948062C>T	AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"""Zinc fingers, C2H2-type"", ""-"""	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.983G>A	8.37:g.145948062C>T	ENSP00000292562:p.Arg328Lys						p.R328K	NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)	5	1239	-	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		328			C2H2-type 5.		Q2M219	Missense_Mutation	SNP	ENST00000292562.7	37	c.983G>A	CCDS47944.1	.	.	.	.	.	.	.	.	.	.	C	0.697	-0.792277	0.02884	.	.	ENSG00000198169	ENST00000292562	T	0.11495	2.77	3.0	-3.12	0.05282	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03608	0.0103	N	0.04787	-0.16	0.19575	N	0.999962	B	0.02656	0.0	B	0.04013	0.001	T	0.44267	-0.9339	9	0.02654	T	1	-3.6034	8.236	0.31627	0.0:0.4357:0.0:0.5643	.	328	Q9BRH9	ZN251_HUMAN	K	328	ENSP00000292562:R328K	ENSP00000292562:R328K	R	-	2	0	ZNF251	145918871	0.122000	0.22280	0.602000	0.28890	0.689000	0.40095	1.310000	0.33551	-0.813000	0.04357	-0.471000	0.05019	AGA		0.488	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382541.1	NM_138367		17	11	0	0	0	0	17	11				
ZNF251	90987	broad.mit.edu	37	8	145948232	145948232	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr8:145948232C>T	ENST00000292562.7	-	5	1088	c.813G>A	c.(811-813)ggG>ggA	p.G271G	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	271					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		CAAAAGTTTTCCCACATTCAT	0.453																																						uc003zdv.3		NA																	0					0						c.(811-813)GGG>GGA		zinc finger protein 251							87.0	92.0	90.0					8																	145948232		2086	4241	6327	SO:0001819	synonymous_variant	90987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:145948232C>T	AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"""Zinc fingers, C2H2-type"", ""-"""	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.813G>A	8.37:g.145948232C>T							p.G271G	NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)	5	1069	-	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		271			C2H2-type 3.		Q2M219	Silent	SNP	ENST00000292562.7	37	c.813G>A	CCDS47944.1																																																																																				0.453	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382541.1	NM_138367		26	21	0	0	0	0	26	21				
ZNF16	7564	broad.mit.edu	37	8	146157372	146157372	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr8:146157372G>A	ENST00000276816.4	-	4	987	c.801C>T	c.(799-801)tgC>tgT	p.C267C	ZNF16_ENST00000394909.2_Silent_p.C267C	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	267					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CACATTCGCTGCACTGGTAAG	0.453																																						uc003zet.2		NA																	0				ovary(5)	5						c.(799-801)TGC>TGT		zinc finger protein 16							129.0	129.0	129.0					8																	146157372		2203	4300	6503	SO:0001819	synonymous_variant	7564				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146157372G>A	X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"""Zinc fingers, C2H2-type"""	12947	protein-coding gene	gene with protein product		601262	"""zinc finger protein 16 (KOX 9)"""				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.801C>T	8.37:g.146157372G>A						ZNF16_uc003zeu.2_Silent_p.C267C	p.C267C	NM_001029976	NP_001025147	P17020	ZNF16_HUMAN	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)	4	988	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	267			C2H2-type 3.		B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Silent	SNP	ENST00000276816.4	37	c.801C>T	CCDS6437.1																																																																																				0.453	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958		4	94	0	0	0	0	4	94				
KIAA2026	158358	broad.mit.edu	37	9	6007497	6007497	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:6007497G>A	ENST00000399933.3	-	1	290	c.291C>T	c.(289-291)ctC>ctT	p.L97L	MIR4665_ENST00000581132.1_RNA|KIAA2026_ENST00000381461.2_Silent_p.L97L	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	97										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AGGGGGCGGTGAGGCCCCGGT	0.716																																						uc003zjq.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(289-291)CTC>CTT		hypothetical protein LOC158358							18.0	23.0	22.0					9																	6007497		1971	4135	6106	SO:0001819	synonymous_variant	158358							g.chr9:6007497G>A	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.291C>T	9.37:g.6007497G>A							p.L97L	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	1	507	-		Acute lymphoblastic leukemia(23;0.158)	97					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Silent	SNP	ENST00000399933.3	37	c.291C>T																																																																																					0.716	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		11	60	0	0	0	0	11	60				
BNC2	54796	broad.mit.edu	37	9	16436013	16436013	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:16436013C>G	ENST00000380672.4	-	6	2236	c.2179G>C	c.(2179-2181)Gag>Cag	p.E727Q	BNC2_ENST00000545497.1_Missense_Mutation_p.E632Q|BNC2_ENST00000380667.2_Missense_Mutation_p.E660Q|BNC2_ENST00000380666.2_Missense_Mutation_p.E727Q	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TCCGAAGACTCAGACTCGTTC	0.512																																						uc003zml.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2179-2181)GAG>CAG		basonuclin 2							107.0	98.0	101.0					9																	16436013		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16436013C>G	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.2179G>C	9.37:g.16436013C>G	ENSP00000370047:p.Glu727Gln					BNC2_uc011lmw.1_Missense_Mutation_p.E632Q|BNC2_uc003zmm.2_Missense_Mutation_p.E685Q|BNC2_uc003zmq.1_Missense_Mutation_p.E741Q|BNC2_uc003zmr.1_Missense_Mutation_p.E764Q|BNC2_uc003zmp.1_Missense_Mutation_p.E755Q|BNC2_uc010mij.1_Missense_Mutation_p.E649Q|BNC2_uc011lmv.1_Missense_Mutation_p.E553Q|BNC2_uc003zmo.1_Missense_Mutation_p.E649Q|BNC2_uc003zmj.2_Missense_Mutation_p.E492Q|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.E492Q|BNC2_uc003zmn.1_Missense_Mutation_p.E492Q	p.E727Q	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	2319	-			727						Missense_Mutation	SNP	ENST00000380672.4	37	c.2179G>C	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999085	0.35226	.	.	ENSG00000173068	ENST00000380672;ENST00000411752;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T;T	0.48836	1.42;0.8;1.42;1.43;1.43;1.42	5.56	5.56	0.83823	.	0.048947	0.85682	D	0.000000	T	0.49915	0.1585	L	0.27053	0.805	0.80722	D	1	P;P;D;D;D;P;P;D;D	0.61697	0.941;0.902;0.967;0.967;0.99;0.902;0.945;0.984;0.984	P;B;P;P;P;B;P;P;P	0.55260	0.582;0.378;0.673;0.673;0.772;0.378;0.473;0.597;0.597	T	0.31420	-0.9944	10	0.19147	T	0.46	-20.5392	19.5353	0.95251	0.0:1.0:0.0:0.0	.	632;660;727;553;727;684;727;632;492	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	Q	727;120;684;660;632;553;727;727	ENSP00000370047:E727Q;ENSP00000392212:E120Q;ENSP00000408370:E684Q;ENSP00000370042:E660Q;ENSP00000444640:E632Q;ENSP00000370041:E727Q	ENSP00000370041:E727Q	E	-	1	0	BNC2	16426013	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.082000	0.71318	2.618000	0.88619	0.650000	0.86243	GAG		0.512	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		155	44	0	0	0	0	155	44				
HAUS6	54801	broad.mit.edu	37	9	19058235	19058235	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:19058235G>C	ENST00000380502.3	-	16	2997	c.2530C>G	c.(2530-2532)Ctt>Gtt	p.L844V	HAUS6_ENST00000380496.1_Missense_Mutation_p.L708V	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	844					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCTTGGAAAGAGATTTCTTC	0.433																																						uc003znk.2		NA																	0				ovary(2)	2						c.(2530-2532)CTT>GTT		HAUS augmin-like complex, subunit 6							140.0	140.0	140.0					9																	19058235		2203	4300	6503	SO:0001583	missense	54801				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		g.chr9:19058235G>C	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.2530C>G	9.37:g.19058235G>C	ENSP00000369871:p.Leu844Val					HAUS6_uc011lmz.1_Missense_Mutation_p.L564V|HAUS6_uc003znl.1_Missense_Mutation_p.L708V	p.L844V	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN			16	2783	-			844					B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	c.2530C>G	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	G	1.985	-0.433212	0.04669	.	.	ENSG00000147874	ENST00000380502;ENST00000380496	T;T	0.30182	1.54;1.58	5.65	1.61	0.23674	.	0.646639	0.15035	N	0.284239	T	0.19725	0.0474	L	0.47190	1.495	0.21290	N	0.999739	B;B;B	0.28419	0.211;0.021;0.211	B;B;B	0.22601	0.04;0.013;0.04	T	0.16600	-1.0397	10	0.28530	T	0.3	-0.6106	2.1993	0.03919	0.2429:0.3652:0.2786:0.1133	.	809;708;844	Q7Z4H7-3;Q5VY60;Q7Z4H7	.;.;HAUS6_HUMAN	V	844;708	ENSP00000369871:L844V;ENSP00000369865:L708V	ENSP00000369865:L708V	L	-	1	0	HAUS6	19048235	0.015000	0.18098	0.544000	0.28141	0.029000	0.11900	0.013000	0.13310	0.342000	0.23796	0.467000	0.42956	CTT		0.433	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		29	353	0	0	0	0	29	353				
MLLT3	4300	broad.mit.edu	37	9	20414373	20414373	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:20414373G>A	ENST00000380338.4	-	5	757	c.471C>T	c.(469-471)agC>agT	p.S157S	MLLT3_ENST00000429426.2_Silent_p.S154S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	157	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S157S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.527			T	MLL	ALL																																	uc003zoe.2		NA		Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)		endometrium(3)|urinary_tract(1)|prostate(1)	lung(2)|ovary(1)	3						c.(469-471)AGC>AGT		myeloid/lymphoid or mixed-lineage leukemia							9.0	14.0	12.0					9																	20414373		1757	3647	5404	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414373G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.471C>T	9.37:g.20414373G>A						MLLT3_uc011lne.1_Silent_p.S125S|MLLT3_uc011lnf.1_Silent_p.S154S|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Intron	p.S157S	NM_004529	NP_004520	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	730	-			157			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.471C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	50	0	0	0	0	4	50				
PIGO	84720	broad.mit.edu	37	9	35092757	35092757	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:35092757C>T	ENST00000378617.3	-	7	1521	c.1127G>A	c.(1126-1128)cGa>cAa	p.R376Q	PIGO_ENST00000341666.3_Missense_Mutation_p.R376Q|PIGO_ENST00000361778.2_Missense_Mutation_p.R376Q|PIGO_ENST00000298004.5_Missense_Mutation_p.R376Q|PIGO_ENST00000492770.1_5'Flank	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	376					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ATGAAGAAATCGGGACACCTG	0.512																																						uc003zwd.2		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(1126-1128)CGA>CAA		phosphatidylinositol glycan anchor biosynthesis,							38.0	43.0	42.0					9																	35092757		2160	4183	6343	SO:0001583	missense	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35092757C>T	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.1127G>A	9.37:g.35092757C>T	ENSP00000367880:p.Arg376Gln					PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.2_Missense_Mutation_p.R376Q|PIGO_uc003zwf.2_Missense_Mutation_p.R376Q|PIGO_uc003zwg.1_5'UTR	p.R376Q	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	1523	-			376					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	c.1127G>A	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.100237	0.76983	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	T;T;T;T	0.59638	0.36;0.25;0.25;0.36	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.76456	0.3990	M	0.73372	2.23	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.943	T	0.74699	-0.3577	10	0.46703	T	0.11	-14.9231	19.6982	0.96039	0.0:1.0:0.0:0.0	.	376;376	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	Q	376	ENSP00000298004:R376Q;ENSP00000367880:R376Q;ENSP00000339382:R376Q;ENSP00000354678:R376Q	ENSP00000298004:R376Q	R	-	2	0	PIGO	35082757	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	5.473000	0.66774	2.894000	0.99253	0.655000	0.94253	CGA		0.512	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		25	17	0	0	0	0	25	17				
SPATA31A6	389730	broad.mit.edu	37	9	43627116	43627116	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:43627116G>A	ENST00000332857.6	-	4	1599	c.1571C>T	c.(1570-1572)tCg>tTg	p.S524L	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	524					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TTTATTCTGCGATGCAGGGCA	0.507																																						uc011lrb.1		NA																	0					0						c.(1570-1572)TCG>TTG		hypothetical protein LOC389730							10.0	11.0	11.0					9																	43627116		608	1526	2134	SO:0001583	missense	389730					integral to membrane		g.chr9:43627116G>A		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.1571C>T	9.37:g.43627116G>A	ENSP00000329825:p.Ser524Leu						p.S524L	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			4	1600	-			524						Missense_Mutation	SNP	ENST00000332857.6	37	c.1571C>T	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	G	7.271	0.607097	0.14002	.	.	ENSG00000185775	ENST00000332857	T	0.08193	3.12	2.35	-2.44	0.06502	.	2.354330	0.01754	N	0.030086	T	0.08447	0.0210	L	0.61218	1.895	0.09310	N	1	B	0.33755	0.424	B	0.27076	0.076	T	0.28744	-1.0034	10	0.21540	T	0.41	.	3.6731	0.08281	0.3817:0.1914:0.4268:0.0	.	524	Q5VVP1	F75A6_HUMAN	L	524	ENSP00000329825:S524L	ENSP00000329825:S524L	S	-	2	0	FAM75A6	43567112	0.008000	0.16893	0.000000	0.03702	0.001000	0.01503	0.710000	0.25748	-0.574000	0.05990	-1.311000	0.01308	TCG		0.507	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		70	336	0	0	0	0	70	336				
CBWD6	644019	broad.mit.edu	37	9	69247529	69247529	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:69247529G>A	ENST00000377457.5	-	5	588	c.483C>T	c.(481-483)taC>taT	p.Y161Y	CBWD6_ENST00000382399.4_Intron|CBWD6_ENST00000377449.1_Silent_p.Y125Y	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6	161							ATP binding (GO:0005524)	p.Y161Y(1)		lung(4)	4						TACCATCAAGGTAAATATCAC	0.299																																						uc004afj.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(481-483)TAC>TAT		COBW domain containing 6																																				SO:0001819	synonymous_variant	644019						ATP binding	g.chr9:69247529G>A		CCDS43827.1	9q13	2006-06-30			ENSG00000204790	ENSG00000204790			31978	protein-coding gene	gene with protein product							Standard	NM_001085457		Approved	OTTHUMG00000066820	uc004afj.4	Q4V339	OTTHUMG00000066820	ENST00000377457.5:c.483C>T	9.37:g.69247529G>A						CBWD6_uc004afk.3_Intron|CBWD6_uc011lrf.1_Intron	p.Y161Y	NM_001085457	NP_001078926	Q4V339	CBWD6_HUMAN			5	589	-			161						Silent	SNP	ENST00000377457.5	37	c.483C>T	CCDS43827.1																																																																																				0.299	CBWD6-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143172.2	XM_928822		3	30	0	0	0	0	3	30				
TMEM2	23670	broad.mit.edu	37	9	74347373	74347373	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:74347373C>G	ENST00000377044.4	-	7	1996	c.1457G>C	c.(1456-1458)gGa>gCa	p.G486A	TMEM2_ENST00000377066.5_Missense_Mutation_p.G423A	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	486					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GGTAAGAATTCCAACCTCAGC	0.428																																						uc011lsa.1		NA																	0				ovary(2)	2						c.(1456-1458)GGA>GCA		transmembrane protein 2 isoform a							115.0	103.0	107.0					9																	74347373		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74347373C>G		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.1457G>C	9.37:g.74347373C>G	ENSP00000366243:p.Gly486Ala					TMEM2_uc010mos.2_Missense_Mutation_p.G423A|TMEM2_uc011lsb.1_RNA	p.G486A	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	7	1997	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	486					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.1457G>C	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.959847	0.74016	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	D;D	0.90732	-2.72;-1.92	5.54	5.54	0.83059	Pectin lyase fold/virulence factor (1);	0.047041	0.85682	D	0.000000	D	0.91479	0.7310	L	0.39633	1.23	0.80722	D	1	P;D	0.58268	0.736;0.982	B;P	0.55055	0.339;0.767	D	0.89816	0.3985	10	0.31617	T	0.26	.	19.4964	0.95075	0.0:1.0:0.0:0.0	.	486;423	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	A	486;423	ENSP00000366243:G486A;ENSP00000366266:G423A	ENSP00000366243:G486A	G	-	2	0	TMEM2	73537193	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.994000	0.56994	2.618000	0.88619	0.650000	0.86243	GGA		0.428	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		21	54	0	0	0	0	21	54				
SECISBP2	79048	broad.mit.edu	37	9	91963111	91963111	+	Missense_Mutation	SNP	G	G	A	rs147681365		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:91963111G>A	ENST00000375807.3	+	12	1791	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K	SECISBP2_ENST00000534113.2_Missense_Mutation_p.E506K|SECISBP2_ENST00000339901.4_Missense_Mutation_p.E501K	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	574					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						CCAGTTTCCCGAGCAGGCAGA	0.463																																						uc004aqj.1		NA																	0				ovary(2)|skin(1)	3						c.(1720-1722)GAG>AAG		SECIS binding protein 2		G	LYS/GLU	0,4406		0,0,2203	132.0	126.0	128.0		1720	1.7	0.0	9	dbSNP_134	128	1,8599	1.2+/-3.3	0,1,4299	no	missense	SECISBP2	NM_024077.3	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	574/855	91963111	1,13005	2203	4300	6503	SO:0001583	missense	79048				translation	nucleus	mRNA 3'-UTR binding	g.chr9:91963111G>A	AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.1720G>A	9.37:g.91963111G>A	ENSP00000364965:p.Glu574Lys					SECISBP2_uc011ltk.1_Missense_Mutation_p.E573K|SECISBP2_uc004aqk.1_Missense_Mutation_p.E501K|SECISBP2_uc010mqo.1_Missense_Mutation_p.E279K|SECISBP2_uc011ltl.1_Missense_Mutation_p.E506K	p.E574K	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN			12	1800	+			574					F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	ENST00000375807.3	37	c.1720G>A	CCDS6683.1	.	.	.	.	.	.	.	.	.	.	G	5.783	0.328879	0.10956	0.0	1.16E-4	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113	T;T;T	0.72615	-0.66;-0.67;-0.66	4.58	1.66	0.24008	.	1.208410	0.05490	N	0.556418	T	0.52141	0.1716	L	0.44542	1.39	0.09310	N	1	B;P;B	0.38280	0.361;0.625;0.361	B;B;B	0.24848	0.016;0.056;0.01	T	0.32587	-0.9901	10	0.09084	T	0.74	0.0	4.2965	0.10904	0.2286:0.2247:0.5467:0.0	.	581;501;574	Q59H19;Q96T21-2;Q96T21	.;.;SEBP2_HUMAN	K	574;580;501;506	ENSP00000364965:E574K;ENSP00000364959:E501K;ENSP00000436650:E506K	ENSP00000364959:E501K	E	+	1	0	SECISBP2	91152931	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.332000	0.19751	0.242000	0.21303	0.555000	0.69702	GAG		0.463	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		19	71	0	0	0	0	19	71				
SEMA4D	10507	broad.mit.edu	37	9	92003801	92003801	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:92003801G>A	ENST00000450295.1	-	10	1712	c.936C>T	c.(934-936)ctC>ctT	p.L312L	SEMA4D_ENST00000455551.2_Silent_p.L312L|SEMA4D_ENST00000422704.2_Silent_p.L312L|SEMA4D_ENST00000356444.2_Silent_p.L312L|SEMA4D_ENST00000339861.4_Silent_p.L312L|SEMA4D_ENST00000343780.4_Silent_p.L312L|SEMA4D_ENST00000438547.2_Silent_p.L312L|SEMA4D_ENST00000420987.1_Silent_p.L312L			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	312	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GTGGGGTGAAGAGTGCATAGA	0.617																																						uc004aqo.1		NA																	0				ovary(1)|pancreas(1)	2						c.(934-936)CTC>CTT		semaphorin 4D isoform 1							85.0	87.0	86.0					9																	92003801		2203	4300	6503	SO:0001819	synonymous_variant	10507				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding	g.chr9:92003801G>A	U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.936C>T	9.37:g.92003801G>A						SEMA4D_uc011ltm.1_Silent_p.L312L|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Silent_p.L310L	p.L312L	NM_006378	NP_006369	Q92854	SEM4D_HUMAN			12	1508	-			312			Sema.|Extracellular (Potential).		B2RPM6|Q7Z5S4|Q8N8B0	Silent	SNP	ENST00000450295.1	37	c.936C>T	CCDS6685.1																																																																																				0.617	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1	NM_006378		26	95	0	0	0	0	26	95				
SEMA4D	10507	broad.mit.edu	37	9	92017921	92017921	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:92017921C>T	ENST00000450295.1	-	4	893	c.117G>A	c.(115-117)ctG>ctA	p.L39L	SEMA4D_ENST00000455551.2_Silent_p.L39L|SEMA4D_ENST00000422704.2_Silent_p.L39L|SEMA4D_ENST00000356444.2_Silent_p.L39L|SEMA4D_ENST00000339861.4_Silent_p.L39L|SEMA4D_ENST00000343780.4_Silent_p.L39L|SEMA4D_ENST00000438547.2_Silent_p.L39L|SEMA4D_ENST00000420987.1_Silent_p.L39L			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	39	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GAAACTGCACCAGGTGCACCT	0.547																																						uc004aqo.1		NA																	0				ovary(1)|pancreas(1)	2						c.(115-117)CTG>CTA		semaphorin 4D isoform 1							89.0	80.0	83.0					9																	92017921		2203	4300	6503	SO:0001819	synonymous_variant	10507				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding	g.chr9:92017921C>T	U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.117G>A	9.37:g.92017921C>T						SEMA4D_uc011ltm.1_Silent_p.L39L|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Silent_p.L37L	p.L39L	NM_006378	NP_006369	Q92854	SEM4D_HUMAN			6	689	-			39			Sema.|Extracellular (Potential).		B2RPM6|Q7Z5S4|Q8N8B0	Silent	SNP	ENST00000450295.1	37	c.117G>A	CCDS6685.1																																																																																				0.547	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1	NM_006378		10	48	0	0	0	0	10	48				
SYK	6850	broad.mit.edu	37	9	93650072	93650072	+	Silent	SNP	G	G	A	rs201516360		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:93650072G>A	ENST00000375754.4	+	12	1771	c.1623G>A	c.(1621-1623)ccG>ccA	p.P541P	SYK_ENST00000375747.1_Silent_p.P518P|SYK_ENST00000375751.4_Silent_p.P518P|SYK_ENST00000375746.1_Silent_p.P541P	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	541	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						GGTACGCTCCGGAATGCATCA	0.483			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								g|||	1	0.000199681	0.0008	0.0	5008	,	,		20214	0.0		0.0	False		,,,				2504	0.0					uc004aqz.2		NA		Dom	yes		9	9q22	6850	T	spleen tyrosine kinase			L	ETV6|ITK		MDS|peripheral T-cell lymphoma		0				lung(2)|stomach(1)|ovary(1)|skin(1)	5						c.(1621-1623)CCG>CCA		spleen tyrosine kinase isoform 1		A	,,,	0,4406		0,0,2203	161.0	162.0	162.0		1554,1623,1554,1623	-9.6	0.0	9		162	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SYK	NM_001135052.2,NM_001174167.1,NM_001174168.1,NM_003177.5	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	518/613,541/636,518/613,541/636	93650072	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6850				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	g.chr9:93650072G>A	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"""SH2 domain containing"""	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.1623G>A	9.37:g.93650072G>A						SYK_uc004ara.2_Silent_p.P518P|SYK_uc004arb.2_Silent_p.P518P|SYK_uc004arc.2_Silent_p.P541P|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA	p.P541P	NM_003177	NP_003168	P43405	KSYK_HUMAN			12	1828	+			541			Protein kinase.			Silent	SNP	ENST00000375754.4	37	c.1623G>A	CCDS6688.1																																																																																				0.483	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1			7	164	0	0	0	0	7	164				
NOL8	55035	broad.mit.edu	37	9	95062221	95062221	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:95062221C>G	ENST00000535387.1	-	12	3138	c.3139G>C	c.(3139-3141)Gaa>Caa	p.E1047Q	NOL8_ENST00000358855.4_Missense_Mutation_p.E1017Q|NOL8_ENST00000542053.1_Missense_Mutation_p.E1017Q|NOL8_ENST00000442668.2_Missense_Mutation_p.E1085Q|NOL8_ENST00000545558.1_Missense_Mutation_p.E1085Q					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TCTTCCTCTTCTGAACTGCTG	0.388																																						uc004arv.2		NA																	0				ovary(1)	1						c.(3253-3255)GAA>CAA		nucleolar protein 8							245.0	233.0	236.0					9																	95062221		1850	4098	5948	SO:0001583	missense	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95062221C>G	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.3139G>C	9.37:g.95062221C>G	ENSP00000441300:p.Glu1047Gln					NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Missense_Mutation_p.E317Q|NOL8_uc011ltw.1_Missense_Mutation_p.E1017Q	p.E1085Q	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN			14	3590	-			1085						Missense_Mutation	SNP	ENST00000535387.1	37	c.3253G>C	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831487	0.91036	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053	T;T;T;T;T	0.19806	2.12;2.15;2.12;2.39;2.15	5.94	5.94	0.96194	.	0.794205	0.12137	N	0.496192	T	0.46795	0.1411	L	0.54323	1.7	0.50467	D	0.999879	D;D	0.76494	0.999;0.999	D;D	0.70716	0.962;0.97	T	0.21895	-1.0232	10	0.72032	D	0.01	-18.1105	19.9687	0.97276	0.0:1.0:0.0:0.0	.	1017;1085	Q76FK4-2;Q76FK4	.;NOL8_HUMAN	Q	1085;1049;1017;1085;1047;1017	ENSP00000401177:E1085Q;ENSP00000351723:E1017Q;ENSP00000441140:E1085Q;ENSP00000441300:E1047Q;ENSP00000440709:E1017Q	ENSP00000351723:E1017Q	E	-	1	0	NOL8	94102042	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	4.462000	0.60121	2.820000	0.97059	0.650000	0.86243	GAA		0.388	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		57	185	0	0	0	0	57	185				
MURC	347273	broad.mit.edu	37	9	103340680	103340680	+	Silent	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:103340680C>T	ENST00000307584.5	+	1	320	c.255C>T	c.(253-255)atC>atT	p.I85I	RN7SKP87_ENST00000364096.1_RNA	NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	85					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)		p.I85M(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				CAGGGCATATCATTAACAAAT	0.388																																						uc004bba.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(253-255)ATC>ATT		muscle-related coiled-coil protein							112.0	118.0	116.0					9																	103340680		2203	4300	6503	SO:0001819	synonymous_variant	347273				cell differentiation|muscle organ development|transcription, DNA-dependent			g.chr9:103340680C>T	BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"""muscle-restricted coiled-coil protein"""					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.255C>T	9.37:g.103340680C>T							p.I85I	NM_001018116	NP_001018126	Q5BKX8	MURC_HUMAN			1	345	+		Acute lymphoblastic leukemia(62;0.0461)	85					B1PRL3|B4DT88	Silent	SNP	ENST00000307584.5	37	c.255C>T	CCDS35083.1																																																																																				0.388	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053419.2	NM_001018116		25	67	0	0	0	0	25	67				
ACTL7B	10880	broad.mit.edu	37	9	111617356	111617356	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:111617356G>A	ENST00000374667.3	-	1	1883	c.855C>T	c.(853-855)gaC>gaT	p.D285D		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	285						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)	p.D285E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TGAGTTTGCCGTCCGGGAGCT	0.642																																						uc004bdi.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(853-855)GAC>GAT		actin-like 7B							46.0	52.0	50.0					9																	111617356		2201	4296	6497	SO:0001819	synonymous_variant	10880					actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111617356G>A	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.855C>T	9.37:g.111617356G>A							p.D285D	NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN			1	920	-			285					B2R9Q2|Q5JSV1	Silent	SNP	ENST00000374667.3	37	c.855C>T	CCDS6771.1																																																																																				0.642	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686		78	30	0	0	0	0	78	30				
OR2K2	26248	broad.mit.edu	37	9	114090514	114090514	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:114090514G>C	ENST00000374428.1	-	1	286	c.287C>G	c.(286-288)tCt>tGt	p.S96C	OR2K2_ENST00000302681.1_Missense_Mutation_p.S67C			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S67C(1)|p.S96C(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						ATCCATGAAAGAGAGATTTCC	0.418																																						uc011lwp.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(199-201)TCT>TGT		olfactory receptor, family 2, subfamily K,							83.0	85.0	84.0					9																	114090514		2203	4300	6503	SO:0001583	missense	26248				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:114090514G>C	X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"""GPCR / Class A : Olfactory receptors"""	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.287C>G	9.37:g.114090514G>C	ENSP00000363550:p.Ser96Cys						p.S67C	NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN			1	200	-			96			Helical; Name=2; (Potential).		Q2TA61|Q5VYK4|Q6IFI5	Missense_Mutation	SNP	ENST00000374428.1	37	c.200C>G		.	.	.	.	.	.	.	.	.	.	G	17.83	3.484536	0.63962	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.12361	2.69;2.69	4.58	4.58	0.56647	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40302	U	0.001131	T	0.48021	0.1477	H	0.96691	3.865	0.39211	D	0.963317	D	0.71674	0.998	P	0.60068	0.868	T	0.68812	-0.5310	10	0.87932	D	0	.	15.262	0.73631	0.0:0.0:1.0:0.0	.	96	Q8NGT1	OR2K2_HUMAN	C	67;96	ENSP00000305055:S67C;ENSP00000363550:S96C	ENSP00000305055:S67C	S	-	2	0	OR2K2	113130335	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	4.413000	0.59795	2.551000	0.86045	0.591000	0.81541	TCT		0.418	OR2K2-201	KNOWN	basic	protein_coding	protein_coding		NM_205859		25	44	0	0	0	0	25	44				
ALAD	210	broad.mit.edu	37	9	116152945	116152945	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:116152945C>T	ENST00000409155.3	-	6	605	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	ALAD_ENST00000482001.1_5'Flank|ALAD_ENST00000277315.5_Missense_Mutation_p.E120K	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	137					cellular response to interleukin-4 (GO:0071353)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protein homooligomerization (GO:0051260)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|identical protein binding (GO:0042802)|lead ion binding (GO:0032791)|porphobilinogen synthase activity (GO:0004655)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	GCTCCGTTTTCACTCAGGAGC	0.622																																						uc011lxf.1		NA																	0					0						c.(409-411)GAA>AAA		delta-aminolevulinic acid dehydratase	Aminolevulinic acid(DB00855)						39.0	40.0	40.0					9																	116152945		2203	4300	6503	SO:0001583	missense	210				heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding	g.chr9:116152945C>T	M13928	CCDS6794.2	9q32	2010-04-29	2010-04-29		ENSG00000148218	ENSG00000148218	4.2.1.24		395	protein-coding gene	gene with protein product	"""porphobilinogen synthase"""	125270	"""aminolevulinate, delta-, dehydratase"""			6839527, 6378062	Standard	NM_000031		Approved	ALADH, PBGS	uc011lxf.2	P13716	OTTHUMG00000020522	ENST00000409155.3:c.409G>A	9.37:g.116152945C>T	ENSP00000386284:p.Glu137Lys					ALAD_uc011lxe.1_Missense_Mutation_p.E120K|ALAD_uc004bhl.3_Missense_Mutation_p.E166K	p.E137K	NM_000031	NP_000022	P13716	HEM2_HUMAN			6	611	-			137					A8K375|B2R6F2|Q16870|Q16871|Q9BVQ9	Missense_Mutation	SNP	ENST00000409155.3	37	c.409G>A	CCDS6794.2	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694096	0.48202	.	.	ENSG00000148218	ENST00000409155;ENST00000277315	D;D	0.87103	-2.21;-2.21	5.8	1.84	0.25277	Aldolase-type TIM barrel (1);	0.228496	0.51477	N	0.000081	T	0.79707	0.4492	L	0.42686	1.345	0.52501	D	0.999959	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.10450	0.002;0.005;0.004	T	0.68595	-0.5367	10	0.28530	T	0.3	-3.6943	8.8344	0.35104	0.0:0.6804:0.0:0.3196	.	137;120;166	P13716;B7Z3I9;P13716-2	HEM2_HUMAN;.;.	K	137;120	ENSP00000386284:E137K;ENSP00000277315:E120K	ENSP00000277315:E120K	E	-	1	0	ALAD	115192766	0.148000	0.22702	0.158000	0.22627	0.886000	0.51366	0.703000	0.25646	0.335000	0.23614	0.655000	0.94253	GAA		0.622	ALAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053724.3	NM_001003945		9	19	0	0	0	0	9	19				
ZNF618	114991	broad.mit.edu	37	9	116794974	116794974	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:116794974T>G	ENST00000374126.5	+	12	1233	c.1134T>G	c.(1132-1134)ttT>ttG	p.F378L	ZNF618_ENST00000288466.7_Missense_Mutation_p.F285L|ZNF618_ENST00000470105.1_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	378					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						AAAACCACTTTGAAGAGACGA	0.562																																						uc004bid.2		NA																	0					0						c.(1132-1134)TTT>TTG		zinc finger protein 618							127.0	134.0	132.0					9																	116794974		2033	4177	6210	SO:0001583	missense	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116794974T>G	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.1134T>G	9.37:g.116794974T>G	ENSP00000363241:p.Phe378Leu					ZNF618_uc004bic.2_Missense_Mutation_p.F285L|ZNF618_uc011lxi.1_Missense_Mutation_p.F345L|ZNF618_uc011lxj.1_Missense_Mutation_p.F346L|ZNF618_uc010mvb.2_5'UTR	p.F378L	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN			12	1233	+			378					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	ENST00000374126.5	37	c.1134T>G		.	.	.	.	.	.	.	.	.	.	T	16.90	3.251365	0.59212	.	.	ENSG00000157657	ENST00000374126;ENST00000288466;ENST00000452710;ENST00000374124	T;T;T	0.15718	4.54;2.79;2.4	5.57	4.43	0.53597	.	0.308416	0.35903	N	0.002913	T	0.28566	0.0707	.	.	.	0.41426	D	0.987838	P;B;B;B	0.49447	0.924;0.278;0.007;0.001	P;B;B;B	0.60682	0.878;0.112;0.005;0.018	T	0.04481	-1.0948	9	0.22706	T	0.39	-9.0639	8.186	0.31339	0.0:0.1543:0.0:0.8457	.	365;345;378;285	B5MDS3;B9EG82;Q5T7W0;Q5T7W0-2	.;.;ZN618_HUMAN;.	L	378;285;294;365	ENSP00000288466:F285L;ENSP00000395400:F294L;ENSP00000363239:F365L	ENSP00000288466:F285L	F	+	3	2	ZNF618	115834795	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.632000	0.46511	0.937000	0.37394	0.459000	0.35465	TTT		0.562	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		39	71	0	0	0	0	39	71				
PBX3	5090	broad.mit.edu	37	9	128678148	128678148	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:128678148G>A	ENST00000373489.5	+	3	474	c.458G>A	c.(457-459)aGa>aAa	p.R153K	PBX3_ENST00000447726.2_Missense_Mutation_p.R78K|PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000373483.2_Intron|PBX3_ENST00000373487.4_Missense_Mutation_p.R153K|PBX3_ENST00000342287.5_Missense_Mutation_p.R153K	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	153					adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						TCAGATTACAGAGCCAAATTG	0.507																																						uc004bqb.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(457-459)AGA>AAA		pre-B-cell leukemia homeobox 3 isoform 1							62.0	72.0	69.0					9																	128678148		2203	4300	6503	SO:0001583	missense	5090				anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity	g.chr9:128678148G>A		CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081		"""Homeoboxes / TALE class"""	8634	protein-coding gene	gene with protein product		176312	"""pre-B-cell leukemia transcription factor 3"""			1682799	Standard	NM_006195		Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373489.5:c.458G>A	9.37:g.128678148G>A	ENSP00000362588:p.Arg153Lys					PBX3_uc004bqc.2_Intron|PBX3_uc004bqd.2_Intron|PBX3_uc011lzw.1_Missense_Mutation_p.R78K|PBX3_uc011lzx.1_Missense_Mutation_p.R64K|PBX3_uc004bqe.2_Missense_Mutation_p.R40K	p.R153K	NM_006195	NP_006186	P40426	PBX3_HUMAN			3	574	+			153					E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	Missense_Mutation	SNP	ENST00000373489.5	37	c.458G>A	CCDS6865.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.391093	0.62066	.	.	ENSG00000167081	ENST00000373489;ENST00000342287;ENST00000373487;ENST00000447726;ENST00000538998	T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25	6.08	6.08	0.98989	PBX (1);	0.041693	0.85682	D	0.000000	T	0.61887	0.2383	M	0.68728	2.09	0.80722	D	1	B;D;B	0.65815	0.02;0.995;0.106	B;D;B	0.83275	0.029;0.996;0.135	T	0.55431	-0.8142	10	0.44086	T	0.13	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	64;153;153	B7Z5Q0;Q5JS98;P40426	.;.;PBX3_HUMAN	K	153;153;153;78;64	ENSP00000362588:R153K;ENSP00000341990:R153K;ENSP00000362586:R153K;ENSP00000387456:R78K;ENSP00000444005:R64K	ENSP00000341990:R153K	R	+	2	0	PBX3	127717969	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	9.476000	0.97823	2.894000	0.99253	0.591000	0.81541	AGA		0.507	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417765.1			31	99	0	0	0	0	31	99				
GARNL3	84253	broad.mit.edu	37	9	130119513	130119513	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:130119513G>C	ENST00000373387.4	+	21	2303	c.1951G>C	c.(1951-1953)Gac>Cac	p.D651H	GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000435213.2_Missense_Mutation_p.D629H|GARNL3_ENST00000314904.5_Missense_Mutation_p.D651H	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	651	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						CTGTCTGTCTGACTCTCCCAT	0.522																																						uc011mae.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1951-1953)GAC>CAC		GTPase activating Rap/RanGAP domain-like 3							148.0	124.0	132.0					9																	130119513		2203	4300	6503	SO:0001583	missense	84253				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	g.chr9:130119513G>C	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.1951G>C	9.37:g.130119513G>C	ENSP00000362485:p.Asp651His					GARNL3_uc011mad.1_Missense_Mutation_p.D629H|GARNL3_uc010mxi.2_5'UTR	p.D651H	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN			21	2352	+			651			CNH.		B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	ENST00000373387.4	37	c.1951G>C	CCDS6869.2	.	.	.	.	.	.	.	.	.	.	G	15.92	2.975948	0.53720	.	.	ENSG00000136895	ENST00000435213;ENST00000314904;ENST00000373387	T;T;T	0.05139	3.49;3.49;3.49	5.34	5.34	0.76211	Citron-like (2);	0.000000	0.85682	D	0.000000	T	0.23094	0.0558	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.992	T	0.00141	-1.1998	9	.	.	.	.	17.6083	0.88045	0.0:0.0:1.0:0.0	.	651;629	Q5VVW2;B7Z3Q6	GARL3_HUMAN;.	H	629;651;651	ENSP00000396205:D629H;ENSP00000313970:D651H;ENSP00000362485:D651H	.	D	+	1	0	GARNL3	129159334	1.000000	0.71417	0.932000	0.37286	0.085000	0.17905	9.420000	0.97426	2.513000	0.84729	0.655000	0.94253	GAC		0.522	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293		43	45	0	0	0	0	43	45				
GARNL3	84253	broad.mit.edu	37	9	130119609	130119609	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:130119609G>C	ENST00000373387.4	+	21	2399	c.2047G>C	c.(2047-2049)Gag>Cag	p.E683Q	GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000435213.2_Missense_Mutation_p.E661Q|GARNL3_ENST00000314904.5_Missense_Mutation_p.E683Q	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	683	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TGTGGTGAATGAGAGCACAGG	0.507																																						uc011mae.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2047-2049)GAG>CAG		GTPase activating Rap/RanGAP domain-like 3							128.0	98.0	108.0					9																	130119609		2203	4300	6503	SO:0001583	missense	84253				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	g.chr9:130119609G>C	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.2047G>C	9.37:g.130119609G>C	ENSP00000362485:p.Glu683Gln					GARNL3_uc011mad.1_Missense_Mutation_p.E661Q|GARNL3_uc010mxi.2_5'UTR	p.E683Q	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN			21	2448	+			683			CNH.		B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	ENST00000373387.4	37	c.2047G>C	CCDS6869.2	.	.	.	.	.	.	.	.	.	.	G	18.23	3.578193	0.65878	.	.	ENSG00000136895	ENST00000435213;ENST00000314904;ENST00000373387	T;T;T	0.04917	3.53;3.53;3.53	5.4	5.4	0.78164	Citron-like (2);	0.000000	0.85682	D	0.000000	T	0.14527	0.0351	L	0.52759	1.655	0.80722	D	1	P;P	0.49862	0.86;0.929	P;P	0.52309	0.643;0.695	T	0.00847	-1.1542	9	.	.	.	.	17.7535	0.88442	0.0:0.0:1.0:0.0	.	683;661	Q5VVW2;B7Z3Q6	GARL3_HUMAN;.	Q	661;683;683	ENSP00000396205:E661Q;ENSP00000313970:E683Q;ENSP00000362485:E683Q	.	E	+	1	0	GARNL3	129159430	1.000000	0.71417	0.975000	0.42487	0.657000	0.38888	9.420000	0.97426	2.548000	0.85928	0.655000	0.94253	GAG		0.507	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293		23	27	0	0	0	0	23	27				
NUP214	8021	broad.mit.edu	37	9	134073419	134073419	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:134073419C>T	ENST00000359428.5	+	29	4682	c.4538C>T	c.(4537-4539)tCa>tTa	p.S1513L	NUP214_ENST00000411637.2_Missense_Mutation_p.S1503L|NUP214_ENST00000483497.2_Missense_Mutation_p.S339L|NUP214_ENST00000451030.1_Missense_Mutation_p.S1514L			P35658	NU214_HUMAN	nucleoporin 214kDa	1513	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GTCTCAGCATCAGCAGCCTCA	0.552			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	uc004cag.2		NA		Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	DEK|SET|ABL1		AML|T-ALL		0				breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16						c.(4537-4539)TCA>TTA		nucleoporin 214kDa							78.0	78.0	78.0					9																	134073419		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134073419C>T	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.4538C>T	9.37:g.134073419C>T	ENSP00000352400:p.Ser1513Leu					NUP214_uc004cah.2_Missense_Mutation_p.S1503L|NUP214_uc004cai.2_Missense_Mutation_p.S943L|NUP214_uc010mzg.2_RNA|NUP214_uc011mcg.1_Missense_Mutation_p.S339L|NUP214_uc011mcf.1_Missense_Mutation_p.S290L|NUP214_uc010mzh.1_Missense_Mutation_p.S27L|NUP214_uc010mzi.1_Missense_Mutation_p.S27L	p.S1513L	NM_005085	NP_005076	P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	29	4649	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1513			Pro/Ser/Thr-rich.|11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.4538C>T	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995306	0.74703	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605;ENST00000483497;ENST00000531600;ENST00000541688	T;T;T;T;T	0.54071	1.38;1.39;1.38;0.8;0.59	5.66	5.66	0.87406	.	0.653567	0.12659	N	0.449786	T	0.40570	0.1122	N	0.08118	0	0.09310	N	0.999999	P;D;P;P;P	0.53462	0.617;0.96;0.465;0.617;0.617	B;P;B;B;B	0.46110	0.382;0.504;0.124;0.173;0.173	T	0.34204	-0.9838	10	0.19147	T	0.46	-0.0297	18.3246	0.90250	0.0:1.0:0.0:0.0	.	339;942;1107;1503;1513	B7ZAV2;F5H131;Q5JUP9;P35658-4;P35658	.;.;.;.;NU214_HUMAN	L	1513;1503;1514;1492;1107;942;339;290;290	ENSP00000352400:S1513L;ENSP00000396576:S1503L;ENSP00000405014:S1514L;ENSP00000436793:S339L;ENSP00000435364:S290L	ENSP00000352400:S1513L	S	+	2	0	NUP214	133063240	0.056000	0.20664	0.006000	0.13384	0.021000	0.10359	3.561000	0.53770	2.680000	0.91292	0.561000	0.74099	TCA		0.552	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		15	102	0	0	0	0	15	102				
NOTCH1	4851	broad.mit.edu	37	9	139401080	139401080	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr9:139401080C>T	ENST00000277541.6	-	24	3988	c.3913G>A	c.(3913-3915)Gag>Aag	p.E1305K		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1305	EGF-like 33. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ATGACGGACTCGCAGCGGCGC	0.692			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(3913-3915)GAG>AAG		notch1 preproprotein							18.0	24.0	22.0					9																	139401080		2050	4193	6243	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139401080C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.3913G>A	9.37:g.139401080C>T	ENSP00000277541:p.Glu1305Lys	HNSCC(8;0.001)				NOTCH1_uc004cia.1_Missense_Mutation_p.E535K	p.E1305K	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	24	3913	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1305			Extracellular (Potential).|EGF-like 33.		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.3913G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676972	0.88445	.	.	ENSG00000148400	ENST00000277541	D	0.87650	-2.28	4.64	4.64	0.57946	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.051623	0.85682	D	0.000000	D	0.86871	0.6037	M	0.79258	2.445	0.58432	D	0.999998	P	0.40875	0.731	B	0.36335	0.222	D	0.89176	0.3540	10	0.62326	D	0.03	.	16.4915	0.84202	0.0:1.0:0.0:0.0	.	1305	P46531	NOTC1_HUMAN	K	1305	ENSP00000277541:E1305K	ENSP00000277541:E1305K	E	-	1	0	NOTCH1	138520901	1.000000	0.71417	0.925000	0.36789	0.936000	0.57629	7.310000	0.78947	2.127000	0.65507	0.655000	0.94253	GAG		0.692	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		9	11	0	0	0	0	9	11				
ASMTL	8623	broad.mit.edu	37	X	1546872	1546872	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:1546872C>G	ENST00000381317.3	-	7	684	c.652G>C	c.(652-654)Gag>Cag	p.E218Q	ASMTL_ENST00000463763.1_5'UTR|ASMTL_ENST00000416733.2_Missense_Mutation_p.E142Q|ASMTL_ENST00000381333.4_Missense_Mutation_p.E202Q|ASMTL_ENST00000534940.1_Missense_Mutation_p.E160Q	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	218	MAF-like.					cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGCAGGTCCTCCGGACGGGGC	0.647																																						uc004cpx.1		NA																	0					0						c.(652-654)GAG>CAG		acetylserotonin O-methyltransferase-like							41.0	49.0	46.0					X																	1546872		1967	4113	6080	SO:0001583	missense	8623				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity	g.chrX:1546872C>G	Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"""Pseudoautosomal regions / PAR1"""	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.652G>C	X.37:g.1546872C>G	ENSP00000370718:p.Glu218Gln					ASMTL_uc011mhe.1_Missense_Mutation_p.E142Q|ASMTL_uc004cpy.1_Missense_Mutation_p.E202Q|ASMTL_uc011mhf.1_Missense_Mutation_p.E160Q	p.E218Q	NM_004192	NP_004183	O95671	ASML_HUMAN			7	763	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	218			MAF-like.		B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Missense_Mutation	SNP	ENST00000381317.3	37	c.652G>C	CCDS43917.1	.	.	.	.	.	.	.	.	.	.	c	3.604	-0.081017	0.07141	.	.	ENSG00000169093	ENST00000416733;ENST00000534940;ENST00000381333;ENST00000381317	T;T;T;T	0.01918	4.56;4.57;4.59;4.59	1.99	1.05	0.20165	.	1.764190	0.03464	U	0.212597	T	0.02012	0.0063	N	0.11427	0.14	0.09310	N	1	B;B;B	0.27140	0.105;0.169;0.105	B;B;B	0.24848	0.023;0.056;0.014	T	0.50285	-0.8846	10	0.27082	T	0.32	.	11.1262	0.48320	0.0:0.3523:0.6477:0.0	.	142;202;218	E7ER97;O95671-2;O95671	.;.;ASML_HUMAN	Q	142;160;202;218	ENSP00000410578:E142Q;ENSP00000446410:E160Q;ENSP00000370734:E202Q;ENSP00000370718:E218Q	ENSP00000370718:E218Q	E	-	1	0	ASMTL	1506872	0.000000	0.05858	0.010000	0.14722	0.047000	0.14425	0.160000	0.16462	-0.079000	0.12707	0.279000	0.19357	GAG		0.647	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1	NM_004192		16	40	0	0	0	0	16	40				
NHS	4810	broad.mit.edu	37	X	17745088	17745088	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:17745088G>C	ENST00000380060.3	+	6	3137	c.2799G>C	c.(2797-2799)ttG>ttC	p.L933F	NHS_ENST00000398097.3_Missense_Mutation_p.L777F	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	954					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TAAATGACTTGAAAACAAATG	0.423																																						uc004cxx.2		NA																	0				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(2797-2799)TTG>TTC		Nance-Horan syndrome protein isoform 1							143.0	138.0	139.0					X																	17745088		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17745088G>C		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.2799G>C	X.37:g.17745088G>C	ENSP00000369400:p.Leu933Phe					NHS_uc011mix.1_Missense_Mutation_p.L954F|NHS_uc004cxy.2_Missense_Mutation_p.L777F|NHS_uc004cxz.2_Missense_Mutation_p.L756F|NHS_uc004cya.2_Missense_Mutation_p.L656F	p.L933F	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN			6	3137	+	Hepatocellular(33;0.183)		933					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.2799G>C	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189254	0.38707	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.51325	0.71;0.72	5.93	5.04	0.67666	.	0.063697	0.64402	D	0.000003	T	0.62356	0.2421	M	0.68952	2.095	0.58432	D	0.999993	P;P;P;D	0.89917	0.933;0.933;0.933;1.0	P;P;P;D	0.91635	0.479;0.557;0.557;0.999	T	0.60752	-0.7201	10	0.09843	T	0.71	-8.382	13.1472	0.59470	0.0818:0.0:0.9182:0.0	.	954;775;777;933	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	F	933;777;775	ENSP00000369400:L933F;ENSP00000381170:L777F	ENSP00000369397:L775F	L	+	3	2	NHS	17655009	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.784000	0.47774	1.196000	0.43129	0.538000	0.68166	TTG		0.423	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		82	19	0	0	0	0	82	19				
SCML1	6322	broad.mit.edu	37	X	17762333	17762333	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:17762333C>G	ENST00000380041.3	+	2	355	c.27C>G	c.(25-27)atC>atG	p.I9M	SCML1_ENST00000380043.3_Missense_Mutation_p.I9M|SCML1_ENST00000398080.1_Intron|SCML1_ENST00000380045.3_Intron	NM_001037540.1	NP_001032629.1	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	9					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I9M(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					CCAGTGAAATCGATGTGGTTT	0.328																																						uc004cyb.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(25-27)ATC>ATG		sex comb on midleg-like 1 isoform a							232.0	198.0	209.0					X																	17762333		2203	4300	6503	SO:0001583	missense	6322				anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:17762333C>G		CCDS14182.2, CCDS35210.1, CCDS35211.1	Xp22	2013-01-10	2001-11-28		ENSG00000047634	ENSG00000047634		"""Sterile alpha motif (SAM) domain containing"""	10580	protein-coding gene	gene with protein product		300227	"""sex comb on midleg (Drosophila)-like 1"""			9570953	Standard	XM_005274578		Approved		uc004cyc.3	Q9UN30	OTTHUMG00000021206	ENST00000380041.3:c.27C>G	X.37:g.17762333C>G	ENSP00000369380:p.Ile9Met					SCML1_uc004cyc.2_Missense_Mutation_p.I9M|SCML1_uc004cyd.2_Intron|SCML1_uc004cye.2_Intron	p.I9M	NM_001037540	NP_001032629	Q9UN30	SCML1_HUMAN			2	352	+	Hepatocellular(33;0.183)		9					B0FZN6|B2RA08|Q5H968|Q5H969	Missense_Mutation	SNP	ENST00000380041.3	37	c.27C>G	CCDS35210.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.487373	0.44249	.	.	ENSG00000047634	ENST00000380041;ENST00000380043;ENST00000419185	.	.	.	4.88	-9.31	0.00646	.	3.767020	0.00644	N	0.000521	T	0.15998	0.0385	N	0.08118	0	0.09310	N	1	B;B	0.32396	0.369;0.253	B;B	0.32022	0.139;0.048	T	0.26538	-1.0100	9	0.62326	D	0.03	-0.682	4.2192	0.10549	0.0926:0.1294:0.276:0.5021	.	9;9	Q9UN30-2;Q9UN30	.;SCML1_HUMAN	M	9	.	ENSP00000369380:I9M	I	+	3	3	SCML1	17672254	0.000000	0.05858	0.000000	0.03702	0.435000	0.31806	-3.232000	0.00547	-2.604000	0.00449	-0.278000	0.10074	ATC		0.328	SCML1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060495.5	NM_006746		19	29	0	0	0	0	19	29				
SCML1	6322	broad.mit.edu	37	X	17768106	17768106	+	Silent	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:17768106C>G	ENST00000380041.3	+	6	724	c.396C>G	c.(394-396)tcC>tcG	p.S132S	SCML1_ENST00000380043.3_Silent_p.S105S|SCML1_ENST00000398080.1_Silent_p.S11S|SCML1_ENST00000380045.3_Silent_p.S11S	NM_001037540.1	NP_001032629.1	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	132					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					AGACATTCTCCTACCCTGAAA	0.418																																						uc004cyb.2		NA																	0				breast(2)|ovary(1)	3						c.(394-396)TCC>TCG		sex comb on midleg-like 1 isoform a							96.0	89.0	92.0					X																	17768106		2203	4300	6503	SO:0001819	synonymous_variant	6322				anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:17768106C>G		CCDS14182.2, CCDS35210.1, CCDS35211.1	Xp22	2013-01-10	2001-11-28		ENSG00000047634	ENSG00000047634		"""Sterile alpha motif (SAM) domain containing"""	10580	protein-coding gene	gene with protein product		300227	"""sex comb on midleg (Drosophila)-like 1"""			9570953	Standard	XM_005274578		Approved		uc004cyc.3	Q9UN30	OTTHUMG00000021206	ENST00000380041.3:c.396C>G	X.37:g.17768106C>G						SCML1_uc004cyc.2_Silent_p.S105S|SCML1_uc004cyd.2_Silent_p.S11S|SCML1_uc004cye.2_Silent_p.S11S	p.S132S	NM_001037540	NP_001032629	Q9UN30	SCML1_HUMAN			6	721	+	Hepatocellular(33;0.183)		132					B0FZN6|B2RA08|Q5H968|Q5H969	Silent	SNP	ENST00000380041.3	37	c.396C>G	CCDS35210.1																																																																																				0.418	SCML1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060495.5	NM_006746		32	56	0	0	0	0	32	56				
MAGEB16	139604	broad.mit.edu	37	X	35820840	35820841	+	Missense_Mutation	DNP	CC	CC	GA			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:35820840_35820841CC>GA	ENST00000399989.1	+	2	806_807	c.527_528CC>GA	c.(526-528)aCC>aGA	p.T176R	MAGEB16_ENST00000399988.1_Missense_Mutation_p.T176R|MAGEB16_ENST00000399992.1_Missense_Mutation_p.T208R|MAGEB16_ENST00000399985.1_Missense_Mutation_p.T176R|MAGEB16_ENST00000399987.1_Missense_Mutation_p.T176R	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	176	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GTGGACCCCACCACCCATTGCT	0.51																																						uc010ngt.1		NA																	0				lung(3)|ovary(2)|breast(1)|skin(1)	7						c.(526-528)ACC>AGA		melanoma antigen family B, 16																																				SO:0001583	missense	139604							g.chrX:35820840_35820841CC>GA		CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"""melanoma antigen family B, 16 (pseudogene)"""			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	Exception_encountered	X.37:g.35820840_35820841delinsGA	ENSP00000382871:p.Thr176Arg						p.T176R	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN			2	806_807	+			176			MAGE.		A8MU30	Missense_Mutation	DNP	ENST00000399989.1	37	c.527_528CC>GA	CCDS43927.1																																																																																				0.510	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1			8	17	0	0	0	0	8	17				
ATRX	546	broad.mit.edu	37	X	76776376	76776376	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:76776376G>A	ENST00000373344.5	-	34	7304	c.7090C>T	c.(7090-7092)Ctc>Ttc	p.L2364F	ATRX_ENST00000395603.3_Missense_Mutation_p.L2326F|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2364					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GCCTCTGAGAGATTCATGTTC	0.348			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3		NA		Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		0				haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(7090-7092)CTC>TTC		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						109.0	94.0	99.0					X																	76776376		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76776376G>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.7090C>T	X.37:g.76776376G>A	ENSP00000362441:p.Leu2364Phe					ATRX_uc004ecq.3_Missense_Mutation_p.L2326F|ATRX_uc004eco.3_Missense_Mutation_p.L2149F	p.L2364F	NM_000489	NP_000480	P46100	ATRX_HUMAN			34	7322	-			2364					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.7090C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.567985	0.45798	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.94046	-3.34;-3.34	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000003	D	0.92844	0.7724	N	0.17082	0.46	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.72625	0.978;0.878	D	0.93347	0.6715	10	0.49607	T	0.09	.	13.5233	0.61580	0.0:0.1521:0.8479:0.0	.	2326;2364	P46100-4;P46100	.;ATRX_HUMAN	F	2364;2326	ENSP00000362441:L2364F;ENSP00000378967:L2326F	ENSP00000362441:L2364F	L	-	1	0	ATRX	76663032	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.789000	0.69029	2.143000	0.66587	0.513000	0.50165	CTC		0.348	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		21	12	0	0	0	0	21	12				
LPAR4	2846	broad.mit.edu	37	X	78010388	78010388	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:78010388G>A	ENST00000435339.3	+	2	408	c.22G>A	c.(22-24)Gac>Aac	p.D8N		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	8					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						AAGATTCATTGACTTCCAATT	0.438																																						uc010nme.2		NA																	0				ovary(3)	3						c.(22-24)GAC>AAC		lysophosphatidic acid receptor 4							111.0	95.0	101.0					X																	78010388		2203	4300	6503	SO:0001583	missense	2846					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78010388G>A	U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	4478	protein-coding gene	gene with protein product		300086	"""G protein-coupled receptor 23"""	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.22G>A	X.37:g.78010388G>A	ENSP00000408205:p.Asp8Asn						p.D8N	NM_005296	NP_005287	Q99677	LPAR4_HUMAN			2	427	+			8			Extracellular (Potential).		B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	ENST00000435339.3	37	c.22G>A	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.146662	0.37923	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	T;T	0.37058	1.22;1.22	4.32	3.37	0.38596	.	0.426630	0.17125	U	0.186073	T	0.18759	0.0450	N	0.08118	0	0.27710	N	0.945506	B	0.13594	0.008	B	0.08055	0.003	T	0.10200	-1.0640	10	0.41790	T	0.15	.	10.1118	0.42568	0.0:0.0:0.786:0.214	.	8	Q99677	LPAR4_HUMAN	N	8	ENSP00000408205:D8N;ENSP00000362398:D8N	ENSP00000362398:D8N	D	+	1	0	LPAR4	77897044	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	2.068000	0.41471	2.003000	0.58678	0.422000	0.28245	GAC		0.438	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		14	23	0	0	0	0	14	23				
DRP2	1821	broad.mit.edu	37	X	100496666	100496666	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:100496666C>T	ENST00000395209.3	+	7	1096	c.569C>T	c.(568-570)cCg>cTg	p.P190L	DRP2_ENST00000538510.1_Missense_Mutation_p.P190L|DRP2_ENST00000541709.1_Missense_Mutation_p.P112L|DRP2_ENST00000402866.1_Missense_Mutation_p.P190L	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	190					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GATACCTCCCCGAAACAGCGG	0.547																																						uc004egz.2		NA																	0				ovary(2)	2						c.(568-570)CCG>CTG		dystrophin related protein 2							57.0	52.0	53.0					X																	100496666		2203	4300	6503	SO:0001583	missense	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100496666C>T	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.569C>T	X.37:g.100496666C>T	ENSP00000378635:p.Pro190Leu					DRP2_uc011mrh.1_Missense_Mutation_p.P112L	p.P190L	NM_001939	NP_001930	Q13474	DRP2_HUMAN			7	938	+			190					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	c.569C>T	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999069	0.54147	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	T;T;T;T	0.06068	3.45;3.45;3.35;3.45	5.64	5.64	0.86602	.	0.051079	0.85682	D	0.000000	T	0.10895	0.0266	M	0.66939	2.045	0.80722	D	1	P	0.41910	0.764	B	0.35240	0.198	T	0.01884	-1.1254	10	0.87932	D	0	-14.9798	18.778	0.91920	0.0:1.0:0.0:0.0	.	190	Q13474	DRP2_HUMAN	L	190;190;112;190	ENSP00000385038:P190L;ENSP00000378635:P190L;ENSP00000444752:P112L;ENSP00000441051:P190L	ENSP00000362007:P190L	P	+	2	0	DRP2	100383322	1.000000	0.71417	0.996000	0.52242	0.347000	0.29111	7.449000	0.80643	2.381000	0.81170	0.529000	0.55759	CCG		0.547	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		10	39	0	0	0	0	10	39				
NRK	203447	broad.mit.edu	37	X	105179293	105179293	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:105179293G>T	ENST00000243300.9	+	21	3934	c.3631G>T	c.(3631-3633)Gag>Tag	p.E1211*	NRK_ENST00000428173.2_Nonsense_Mutation_p.E1212*	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1211	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GTTCACTTCTGAGATCTGCTG	0.353										HNSCC(51;0.14)																												uc004emd.2		NA																	0				breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						c.(3631-3633)GAG>TAG		Nik related kinase							158.0	134.0	142.0					X																	105179293		1857	4083	5940	SO:0001587	stop_gained	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105179293G>T	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.3631G>T	X.37:g.105179293G>T	ENSP00000434830:p.Glu1211*	HNSCC(51;0.14)				NRK_uc010npc.1_Nonsense_Mutation_p.E879*	p.E1211*	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			21	3934	+			1211			CNH.		Q32ND6|Q5H9K2|Q6ZMP2	Nonsense_Mutation	SNP	ENST00000243300.9	37	c.3631G>T		.	.	.	.	.	.	.	.	.	.	G	45	11.353869	0.99550	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	.	.	.	4.9	4.9	0.64082	.	0.000000	0.45867	D	0.000323	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.1878	0.54250	0.0:0.0:1.0:0.0	.	.	.	.	X	1211;1212	.	ENSP00000434830:E1211X	E	+	1	0	NRK	105065949	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.164000	0.77533	2.265000	0.75225	0.600000	0.82982	GAG		0.353	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		20	11	1	0	5.04e-11	5.39e-11	20	11				
LUZP4	51213	broad.mit.edu	37	X	114540829	114540829	+	Silent	SNP	G	G	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:114540829G>A	ENST00000371920.3	+	4	409	c.402G>A	c.(400-402)ggG>ggA	p.G134G	LUZP4_ENST00000451986.2_Silent_p.G52G	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	134						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						AGTCAGAGGGGAACCAGCATC	0.433																																						uc004eqa.2		NA																	0				ovary(2)	2						c.(400-402)GGG>GGA		leucine zipper protein 4							77.0	73.0	75.0					X																	114540829		2203	4300	6503	SO:0001819	synonymous_variant	51213					nucleus		g.chrX:114540829G>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.402G>A	X.37:g.114540829G>A						LUZP4_uc004eqb.2_Silent_p.G52G	p.G134G	NM_016383	NP_057467	Q9P127	LUZP4_HUMAN			4	436	+			134					B3KSD6	Silent	SNP	ENST00000371920.3	37	c.402G>A	CCDS14567.1																																																																																				0.433	LUZP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057972.1	NM_016383		18	24	0	0	0	0	18	24				
GLUD2	2747	broad.mit.edu	37	X	120183061	120183061	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:120183061C>G	ENST00000328078.1	+	1	1600	c.1523C>G	c.(1522-1524)tCt>tGt	p.S508C		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	508					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						ATTGTGCACTCTGCCTTGGCA	0.463																																						uc004eto.2		NA																	0				pancreas(1)	1						c.(1522-1524)TCT>TGT		glutamate dehydrogenase 2 precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						161.0	121.0	135.0					X																	120183061		2203	4300	6503	SO:0001583	missense	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120183061C>G	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.1523C>G	X.37:g.120183061C>G	ENSP00000327589:p.Ser508Cys						p.S508C	NM_012084	NP_036216	P49448	DHE4_HUMAN			1	1600	+			508					B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	37	c.1523C>G	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.120250	0.37436	.	.	ENSG00000182890	ENST00000328078	D	0.96685	-4.09	1.46	0.554	0.17241	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97807	0.9280	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.95960	0.8961	10	0.87932	D	0	-7.4041	5.8272	0.18560	0.0:0.8007:0.0:0.1993	.	508	P49448	DHE4_HUMAN	C	508	ENSP00000327589:S508C	ENSP00000327589:S508C	S	+	2	0	GLUD2	120010742	1.000000	0.71417	0.010000	0.14722	0.017000	0.09413	3.443000	0.52907	0.138000	0.18790	0.182000	0.17080	TCT		0.463	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		31	24	0	0	0	0	31	24				
GPR112	139378	broad.mit.edu	37	X	135427079	135427079	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:135427079C>G	ENST00000394143.1	+	6	1505	c.1214C>G	c.(1213-1215)tCa>tGa	p.S405*	GPR112_ENST00000287534.4_Nonsense_Mutation_p.S342*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.S200*|GPR112_ENST00000370652.1_Nonsense_Mutation_p.S405*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.S200*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	405					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCTTTATTTTCAACTATTGAG	0.388																																						uc004ezu.1		NA																	0				ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(1213-1215)TCA>TGA		G-protein coupled receptor 112							83.0	79.0	80.0					X																	135427079		2203	4300	6503	SO:0001587	stop_gained	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135427079C>G	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.1214C>G	X.37:g.135427079C>G	ENSP00000377699:p.Ser405*					GPR112_uc010nsb.1_Nonsense_Mutation_p.S200*|GPR112_uc010nsc.1_Nonsense_Mutation_p.S172*	p.S405*	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	1505	+	Acute lymphoblastic leukemia(192;0.000127)		405			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Nonsense_Mutation	SNP	ENST00000394143.1	37	c.1214C>G	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	c	28.6	4.933463	0.92458	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	.	.	.	3.97	3.09	0.35607	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	7.1866	0.25803	0.0:0.8636:0.0:0.1364	.	.	.	.	X	405;405;200;342;200	.	ENSP00000287534:S342X	S	+	2	0	GPR112	135254745	0.600000	0.26899	0.001000	0.08648	0.003000	0.03518	1.843000	0.39259	0.770000	0.33336	0.502000	0.49764	TCA		0.388	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			25	49	0	0	0	0	25	49				
CXorf40A	91966	broad.mit.edu	37	X	148628500	148628500	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:148628500G>C	ENST00000441248.1	+	4	2056	c.469G>C	c.(469-471)Gaa>Caa	p.E157Q	CXorf40A_ENST00000423540.2_Missense_Mutation_p.E157Q|RP5-937E21.8_ENST00000431993.1_RNA|CXorf40A_ENST00000422892.2_Intron|CXorf40A_ENST00000359293.5_Missense_Mutation_p.E157Q|CXorf40A_ENST00000450602.2_Missense_Mutation_p.E157Q|CXorf40A_ENST00000393985.3_Missense_Mutation_p.E157Q|CXorf40A_ENST00000423421.1_Missense_Mutation_p.E157Q|CXorf40A_ENST00000428236.1_Missense_Mutation_p.E95Q|CXorf40A_ENST00000514208.1_Intron|CXorf40A_ENST00000434353.2_Intron			Q8TE69	CX04A_HUMAN	chromosome X open reading frame 40A	157										breast(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					ATTGGGGCATGAAGTGTGACA	0.478																																						uc004fdb.2		NA																	0					0						c.(469-471)GAA>CAA		chromosome X open reading frame 40							52.0	25.0	34.0					X																	148628500		2203	4297	6500	SO:0001583	missense	91966						protein binding	g.chrX:148628500G>C	AF011889	CCDS14687.1, CCDS55522.1	Xq28	2010-03-16	2005-09-13	2005-09-13	ENSG00000197620	ENSG00000197620			28089	protein-coding gene	gene with protein product	"""endothelial-overexpressed lipopolysaccharide-associated factor 1"""		"""chromosome X open reading frame 40"""	CXorf40		8717057, 9147653, 16383041	Standard	XM_005278212		Approved	EOLA1	uc004fdg.3	Q8TE69	OTTHUMG00000022622	ENST00000441248.1:c.469G>C	X.37:g.148628500G>C	ENSP00000423099:p.Glu157Gln					CXorf40A_uc011mxm.1_Missense_Mutation_p.E157Q|CXorf40A_uc011mxn.1_Missense_Mutation_p.E157Q|CXorf40A_uc004fdd.2_Missense_Mutation_p.E157Q|CXorf40A_uc004fde.1_Intron|CXorf40A_uc004fdg.2_Missense_Mutation_p.E157Q|CXorf40A_uc004fdf.2_Missense_Mutation_p.E157Q|CXorf40A_uc004fdh.2_Intron|CXorf40A_uc010nsy.2_Missense_Mutation_p.E157Q|CXorf40A_uc004fdi.2_Missense_Mutation_p.E174Q	p.E157Q	NM_178124	NP_835225	Q8TE69	CX04A_HUMAN			5	741	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		157					A8K784|B7Z6H6|B7ZL96|D6RA72|E7ENU3|Q2M3E9	Missense_Mutation	SNP	ENST00000441248.1	37	c.469G>C	CCDS14687.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.290849	0.40494	.	.	ENSG00000197620	ENST00000450602;ENST00000441248;ENST00000393985;ENST00000423421;ENST00000423540;ENST00000428236;ENST00000359293	T;T;T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03;2.03;2.03	3.97	3.11	0.35812	.	0.848487	0.10211	N	0.702180	T	0.19805	0.0476	L	0.44542	1.39	0.09310	N	1	P;P	0.51351	0.944;0.9	P;B	0.44811	0.461;0.367	T	0.16928	-1.0386	10	0.66056	D	0.02	.	4.4754	0.11733	0.1218:0.0:0.6404:0.2378	.	157;157	Q8TE69;D6RA72	CX04A_HUMAN;.	Q	157;157;157;157;157;95;157	ENSP00000427540:E157Q;ENSP00000423099:E157Q;ENSP00000421745:E157Q;ENSP00000422512:E157Q;ENSP00000425520:E157Q;ENSP00000426158:E95Q;ENSP00000420882:E157Q	ENSP00000420882:E157Q	E	+	1	0	CXorf40A	148436405	0.008000	0.16893	0.019000	0.16419	0.052000	0.14988	1.353000	0.34045	0.816000	0.34421	0.550000	0.68814	GAA		0.478	CXorf40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058699.3	NM_178124		4	11	0	0	0	0	4	11				
CXorf40B	541578	broad.mit.edu	37	X	149100770	149100770	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:149100770C>G	ENST00000370406.3	-	5	1297	c.469G>C	c.(469-471)Gaa>Caa	p.E157Q	XX-FW81066F1.2_ENST00000457775.1_RNA|CXorf40B_ENST00000370404.1_Missense_Mutation_p.E157Q|CXorf40B_ENST00000355203.2_Missense_Mutation_p.E157Q|CXorf40B_ENST00000462691.1_Intron			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	157										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					TGTCACACTTCATGCCCCAAA	0.483																																						uc004fdy.2		NA																	0					0						c.(469-471)GAA>CAA		hypothetical protein LOC541578							218.0	184.0	195.0					X																	149100770		2201	4300	6501	SO:0001583	missense	541578							g.chrX:149100770C>G	BC009523	CCDS35426.1	Xq28	2012-11-28			ENSG00000197021	ENSG00000197021			17402	protein-coding gene	gene with protein product							Standard	XM_005274698		Approved		uc004fdy.3	Q96DE9	OTTHUMG00000034327	ENST00000370406.3:c.469G>C	X.37:g.149100770C>G	ENSP00000359434:p.Glu157Gln					CXorf40B_uc011mxs.1_Intron	p.E157Q	NM_001013845	NP_001013867	Q96DE9	CX04B_HUMAN			5	985	-	Acute lymphoblastic leukemia(192;6.56e-05)		157						Missense_Mutation	SNP	ENST00000370406.3	37	c.469G>C	CCDS35426.1	.	.	.	.	.	.	.	.	.	.	c	14.62	2.588529	0.46110	.	.	ENSG00000197021	ENST00000370406;ENST00000355203;ENST00000370404	T;T;T	0.21031	2.03;2.03;2.03	3.35	0.0431	0.14220	.	0.848487	0.10211	N	0.702180	T	0.32645	0.0836	L	0.51422	1.61	0.09310	N	1	D	0.67145	0.996	D	0.75484	0.986	T	0.16512	-1.0400	10	0.66056	D	0.02	.	2.7616	0.05308	0.3358:0.3849:0.0:0.2794	.	157	Q96DE9	CX04B_HUMAN	Q	157	ENSP00000359434:E157Q;ENSP00000347339:E157Q;ENSP00000359432:E157Q	ENSP00000347339:E157Q	E	-	1	0	CXorf40B	148851428	0.000000	0.05858	0.000000	0.03702	0.286000	0.27126	0.131000	0.15870	-0.006000	0.14370	0.422000	0.28245	GAA		0.483	CXorf40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082896.2	NP_001013867		13	84	0	0	0	0	13	84				
PLXNB3	5365	broad.mit.edu	37	X	153035337	153035337	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chrX:153035337C>G	ENST00000361971.5	+	7	1686	c.1572C>G	c.(1570-1572)caC>caG	p.H524Q	PLXNB3_ENST00000538543.1_Missense_Mutation_p.H74Q|PLXNB3_ENST00000538966.1_Missense_Mutation_p.H547Q|PLXNB3_ENST00000538776.1_Missense_Mutation_p.H177Q|PLXNB3_ENST00000538282.1_Missense_Mutation_p.H134Q	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	524	PSI 1.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGACAGCCACTGCCTGCACA	0.687																																						uc004fii.2		NA																	0				lung(1)	1						c.(1570-1572)CAC>CAG		plexin B3 isoform 1							20.0	19.0	19.0					X																	153035337		2183	4285	6468	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153035337C>G	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.1572C>G	X.37:g.153035337C>G	ENSP00000355378:p.His524Gln					PLXNB3_uc011mzb.1_Missense_Mutation_p.H60Q|PLXNB3_uc011mzc.1_Missense_Mutation_p.H206Q|PLXNB3_uc010nuk.2_Missense_Mutation_p.H547Q|PLXNB3_uc011mzd.1_Missense_Mutation_p.H163Q	p.H524Q	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN			7	1746	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		524			Extracellular (Potential).		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.1572C>G	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.294573	0.00245	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538543;ENST00000538282	T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06	4.71	2.92	0.33932	.	0.846699	0.10772	N	0.635856	T	0.08891	0.0220	N	0.04705	-0.18	0.26110	N	0.980697	B;B;B;B;B	0.13594	0.001;0.008;0.005;0.001;0.001	B;B;B;B;B	0.18871	0.007;0.009;0.023;0.004;0.007	T	0.36696	-0.9737	10	0.02654	T	1	.	8.8185	0.35011	0.0:0.8047:0.0:0.1953	.	177;206;74;547;524	B7Z3H9;B7Z9A5;F5GZZ4;F5H773;Q9ULL4	.;.;.;.;PLXB3_HUMAN	Q	547;524;177;74;134	ENSP00000442736:H547Q;ENSP00000355378:H524Q;ENSP00000445569:H177Q;ENSP00000444086:H74Q;ENSP00000441919:H134Q	ENSP00000355378:H524Q	H	+	3	2	PLXNB3	152688531	0.990000	0.36364	0.021000	0.16686	0.011000	0.07611	2.458000	0.45014	0.250000	0.21479	-0.208000	0.12717	CAC		0.687	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			4	7	0	0	0	0	4	7				
CYP2J2	1573	broad.mit.edu	37	1	60381745	60381746	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr1:60381745_60381746insA	ENST00000371204.3	-	2	280_281	c.237_238insT	c.(235-240)tttagcfs	p.S80fs	CYP2J2_ENST00000492633.1_5'Flank	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	80					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)	p.S80G(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	AGCTCCAAGCTAAAAAGGTTCC	0.411																																						uc001czq.2		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(1)	1						c.(235-240)TTTAGCfs		cytochrome P450, family 2, subfamily J,																																				SO:0001589	frameshift_variant	1573				epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity	g.chr1:60381745_60381746insA	BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"""Cytochrome P450s"""	2634	protein-coding gene	gene with protein product		601258	"""cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"""			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.238dupT	1.37:g.60381750_60381750dupA	ENSP00000360247:p.Ser80fs						p.F79fs	NM_000775	NP_000766	P51589	CP2J2_HUMAN			2	242_243	-	all_cancers(7;0.000396)		79_80					B2RD33|Q8TF13	Frame_Shift_Ins	INS	ENST00000371204.3	37	c.237_238insT	CCDS613.1																																																																																				0.411	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024940.1	NM_000775		21	65	NA	NA	NA	NA	21	65	---	---	---	---
CASP5	838	broad.mit.edu	37	11	104879687	104879687	+	Frame_Shift_Del	DEL	T	T	-	rs372526393		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr11:104879687delT	ENST00000260315.3	-	2	27	c.28delA	c.(28-30)aggfs	p.R11fs	CASP5_ENST00000531367.1_Intron|CASP5_ENST00000393139.2_5'UTR|CASP5_ENST00000393141.2_Frame_Shift_Del_p.R24fs|CASP5_ENST00000444749.2_Intron|CASP5_ENST00000526056.1_Frame_Shift_Del_p.R24fs|CASP5_ENST00000418434.1_Intron			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	11					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TTCTTACGCCTTTTTTTTTTG	0.388																																						uc010rva.1		NA																	0				ovary(2)|lung(1)	3						c.(28-30)AGGfs		caspase 5 isoform a precursor			,,,	18,749,3497		0,0,18,1,747,1366	101.0	98.0	99.0		,,,	-1.9	0.0	11		107	8,1495,6751		0,0,8,0,1495,2624	no	codingComplex,codingComplex,intron,intron	CASP5	NM_004347.3,NM_001136112.1,NM_001136110.1,NM_001136109.1	,,,	0,0,26,1,2242,3990	A1A1,A1A2,A1R,A2A2,A2R,RR		18.2094,17.9878,18.1339	,,,	,,,	104879687	26,2244,10248	2201	4299	6500	SO:0001589	frameshift_variant	838				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104879687delT		CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.28delA	11.37:g.104879687delT	ENSP00000260315:p.Arg11fs					CASP5_uc010ruz.1_Frame_Shift_Del_p.R23fs|CASP5_uc010rvb.1_Intron|CASP5_uc010rvc.1_Intron|CASP5_uc009yxh.2_Intron|CASP5_uc010rvd.1_Intron	p.R10fs	NM_004347	NP_004338	P51878	CASP5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)	2	60	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	10					B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Frame_Shift_Del	DEL	ENST00000260315.3	37	c.28delA	CCDS8328.2																																																																																				0.388	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	NM_004347		8	59	NA	NA	NA	NA	8	59	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49436553	49436559	+	Frame_Shift_Del	DEL	CGGCTGC	CGGCTGC	-	rs587778461		TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:49436553_49436559delCGGCTGC	ENST00000301067.7	-	26	5746_5752	c.5747_5753delGCAGCCG	c.(5746-5754)ggcagccgtfs	p.GSR1916fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1916					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R1648C(1)|p.G1646G(1)|p.S1647G(1)|p.R1918C(1)|p.G1916G(1)|p.S1917G(1)									CAGTGGCGTACGGCTGCCTTCTAGGCC	0.546																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		6	Substitution - Missense(4)|Substitution - coding silent(2)		kidney(4)|endometrium(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(5746-5754)GGCAGCCGTfs		myeloid/lymphoid or mixed-lineage leukemia 2																																				SO:0001589	frameshift_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49436553_49436559delCGGCTGC	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.5747_5753delGCAGCCG	12.37:g.49436553_49436559delCGGCTGC	ENSP00000301067:p.Gly1916fs	HNSCC(34;0.089)					p.G1916fs	NM_003482	NP_003473	O14686	MLL2_HUMAN			26	5747_5753	-			1916_1918					O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.5747_5753delGCAGCCG	CCDS44873.1																																																																																				0.546	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			22	86	NA	NA	NA	NA	22	86	---	---	---	---
OR6C74	254783	broad.mit.edu	37	12	55641287	55641287	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr12:55641287delA	ENST00000343870.4	+	1	306	c.216delA	c.(214-216)acafs	p.T73fs		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						TCTCATTCACAACTGTCTACA	0.393																																						uc010spg.1		NA																	0				central_nervous_system(1)	1						c.(214-216)ACAfs		olfactory receptor, family 6, subfamily C,							167.0	168.0	168.0					12																	55641287		2203	4300	6503	SO:0001589	frameshift_variant	254783				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55641287delA		CCDS31816.1	12q13.13	2012-08-09			ENSG00000197706	ENSG00000197706		"""GPCR / Class A : Olfactory receptors"""	31303	protein-coding gene	gene with protein product							Standard	NM_001005490		Approved		uc010spg.2	A6NCV1	OTTHUMG00000165162	ENST00000343870.4:c.216delA	12.37:g.55641287delA	ENSP00000342836:p.Thr73fs						p.T72fs	NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN			1	216	+			72			Helical; Name=2; (Potential).			Frame_Shift_Del	DEL	ENST00000343870.4	37	c.216delA	CCDS31816.1																																																																																				0.393	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382312.1			61	189	NA	NA	NA	NA	61	189	---	---	---	---
PDCD7	10081	broad.mit.edu	37	15	65426079	65426079	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr15:65426079delG	ENST00000204549.4	-	1	95	c.41delC	c.(40-42)ccafs	p.P17fs		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	17	Pro-rich.				apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of T cell apoptotic process (GO:0070234)|response to glucocorticoid (GO:0051384)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						CGGGGGCGGTGGGCCTGGGCG	0.692																																						uc002aol.2		NA																	0					0						c.(40-42)CCAfs		programmed cell death 7							4.0	6.0	5.0					15																	65426079		1935	3998	5933	SO:0001589	frameshift_variant	10081				apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex		g.chr15:65426079delG	AF083930	CCDS10201.1	15q22.2	2012-06-07			ENSG00000090470	ENSG00000090470			8767	protein-coding gene	gene with protein product	"""U11/U12 snRNP 59K"""	608138				10037816	Standard	NM_005707		Approved	HES18, ES18	uc002aol.3	Q8N8D1	OTTHUMG00000133117	ENST00000204549.4:c.41delC	15.37:g.65426079delG	ENSP00000204549:p.Pro17fs						p.P14fs	NM_005707	NP_005698	Q8N8D1	PDCD7_HUMAN			1	96	-			14			Pro-rich.		Q96AK8|Q9Y6D7	Frame_Shift_Del	DEL	ENST00000204549.4	37	c.41delC	CCDS10201.1																																																																																				0.692	PDCD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256784.2	NM_005707		2	4	NA	NA	NA	NA	2	4	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578234	7578235	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr17:7578234_7578235insT	ENST00000269305.4	-	6	803_804	c.614_615insA	c.(613-615)tatfs	p.Y205fs	TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Frame_Shift_Ins_p.Y205fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.Y205fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.Y205fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.Y205fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.Y205fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	205	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y205*(4)|p.Y112S(1)|p.Y73S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGTCATCCAAATACTCCACACG	0.54		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		121	Substitution - Missense(102)|Whole gene deletion(8)|Unknown(5)|Substitution - Nonsense(4)|Deletion - In frame(1)|Deletion - Frameshift(1)	p.Y205C(55)|p.Y205D(13)|p.Y205S(11)|p.Y205F(8)|p.0?(7)|p.Y205H(5)|p.Y205*(4)|p.Y205N(2)|p.K164_P219del(1)|p.Y205fs*43(1)|p.Y205fs*42(1)|p.Y112C(1)|p.E204fs*39(1)|p.Y73C(1)|p.E204_N210delEYLDDRN(1)	lung(20)|upper_aerodigestive_tract(19)|large_intestine(11)|central_nervous_system(10)|biliary_tract(8)|ovary(7)|breast(6)|haematopoietic_and_lymphoid_tissue(5)|endometrium(5)|urinary_tract(5)|oesophagus(5)|bone(5)|soft_tissue(4)|stomach(3)|liver(3)|pancreas(2)|vulva(1)|skin(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(613-615)TATfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578234_7578235insT	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.615dupA	17.37:g.7578235_7578235dupT	ENSP00000269305:p.Tyr205fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Frame_Shift_Ins_p.Y205fs|TP53_uc002gih.2_Frame_Shift_Ins_p.Y205fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Ins_p.Y73fs|TP53_uc010cng.1_Frame_Shift_Ins_p.Y73fs|TP53_uc002gii.1_Frame_Shift_Ins_p.Y73fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.Y205fs|TP53_uc010cni.1_Frame_Shift_Ins_p.Y205fs|TP53_uc002gij.2_Frame_Shift_Ins_p.Y205fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Ins_p.Y112fs|TP53_uc002gio.2_Frame_Shift_Ins_p.Y73fs|TP53_uc010vug.1_Frame_Shift_Ins_p.Y166fs	p.Y205fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	808_809	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	205		Y -> N (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> C (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.614_615insA	CCDS11118.1																																																																																				0.540	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	21	NA	NA	NA	NA	19	21	---	---	---	---
SPAG4	6676	broad.mit.edu	37	20	34207645	34207646	+	Frame_Shift_Ins	INS	-	-	C	rs376632243|rs532323841|rs76103999	byFrequency	TCGA-CN-6011-01A-11D-1683-08	TCGA-CN-6011-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0e0aa5da-2cb2-47b8-b000-83a07d68ed29	090dd4aa-5adb-4e8e-9ea0-d25775dfa21c	g.chr20:34207645_34207646insC	ENST00000374273.3	+	10	1166_1167	c.1054_1055insC	c.(1054-1056)gccfs	p.A352fs		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	352	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			AGCCAACAGCGCCCCCCGCGAT	0.624													CCCCCC|CCCCCC|CCCCCCC|insertion	10	0.00199681	0.0	0.0	5008	,	,		16734	0.0099		0.0	False		,,,				2504	0.0					uc002xdb.1		NA																	0					0						c.(1054-1056)GCCfs		sperm associated antigen 4																																				SO:0001589	frameshift_variant	6676				spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity	g.chr20:34207645_34207646insC	AF043344	CCDS13259.1	20q11.2	2010-04-23			ENSG00000061656	ENSG00000061656			11214	protein-coding gene	gene with protein product	"""acrosomal protein ACR55"", ""Sad1 and UNC84 domain containing 4"", ""cancer/testis antigen 127"""	603038				9691178, 10373309	Standard	NM_003116		Approved	SUN4, CT127	uc002xdb.1	Q9NPE6	OTTHUMG00000032352	ENST00000374273.3:c.1060dupC	20.37:g.34207651_34207651dupC	ENSP00000363391:p.Ala352fs					SPAG4_uc010zvi.1_Frame_Shift_Ins_p.A275fs	p.A352fs	NM_003116	NP_003107	Q9NPE6	SPAG4_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0127)		10	1171_1172	+	Lung NSC(9;0.0053)|all_lung(11;0.00785)		352			SUN.		O43648	Frame_Shift_Ins	INS	ENST00000374273.3	37	c.1054_1055insC	CCDS13259.1																																																																																				0.624	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078896.1	NM_003116		12	61	NA	NA	NA	NA	12	61	---	---	---	---
