#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
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						uc009vos.1		NA																	0					0						c.e6+1		hypothetical protein LOC55672																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T						NBPF1_uc010oce.1_Intron		NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37	c.-35_splice																																																																																					0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	6	70	0	0	0	0	6	70				
LAPTM5	7805	broad.mit.edu	37	1	31212769	31212769	+	Silent	SNP	G	G	A			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr1:31212769G>A	ENST00000294507.3	-	4	348	c.274C>T	c.(274-276)Ctg>Ttg	p.L92L	LAPTM5_ENST00000476492.1_5'Flank|MIR4420_ENST00000583944.1_RNA	NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	92					transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		AAGGGCAGCAGGTACTTCTCC	0.592																																						uc001bsc.2		NA																	0					0						c.(274-276)CTG>TTG		lysosomal protein transmembrane 5							152.0	112.0	126.0					1																	31212769		2203	4300	6503	SO:0001819	synonymous_variant	7805				transport	integral to plasma membrane|lysosomal membrane		g.chr1:31212769G>A	U51240	CCDS337.1	1p34	2009-07-20	2009-07-20		ENSG00000162511	ENSG00000162511			29612	protein-coding gene	gene with protein product		601476	"""lysosomal multispanning membrane protein 5"""			8661146, 12527926	Standard	NM_006762		Approved		uc001bsc.2	Q13571	OTTHUMG00000003707	ENST00000294507.3:c.274C>T	1.37:g.31212769G>A							p.L92L	NM_006762	NP_006753	Q13571	LAPM5_HUMAN		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)	4	365	-		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)	92			Helical; (Potential).		Q13240|Q14698|Q3KP54	Silent	SNP	ENST00000294507.3	37	c.274C>T	CCDS337.1																																																																																				0.592	LAPTM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010463.1	NM_006762		9	17	0	0	0	0	9	17				
MACF1	23499	broad.mit.edu	37	1	39749133	39749133	+	Silent	SNP	G	G	A	rs150686066		TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr1:39749133G>A	ENST00000372915.3	+	8	963	c.876G>A	c.(874-876)tcG>tcA	p.S292S	MACF1_ENST00000317713.7_Silent_p.S292S|MACF1_ENST00000567887.1_Silent_p.S324S|MACF1_ENST00000564288.1_Silent_p.S287S|MACF1_ENST00000539005.1_Silent_p.S292S|MACF1_ENST00000361689.2_Silent_p.S292S|MACF1_ENST00000545844.1_Silent_p.S292S			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	292	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.S292S(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATGTGTCTTCGATTTATGATG	0.408																																						uc010ois.1		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(874-876)TCG>TCA		microfilament and actin filament cross-linker		G		0,4406		0,0,2203	167.0	149.0	155.0		876	-11.1	0.2	1	dbSNP_134	155	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MACF1	NM_012090.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		292/5431	39749133	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39749133G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.876G>A	1.37:g.39749133G>A						MACF1_uc001cda.1_Silent_p.S200S	p.S292S	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		10	1081	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	292			Actin-binding.|CH 2.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.876G>A																																																																																					0.408	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		16	48	0	0	0	0	16	48				
CYP4A22	284541	broad.mit.edu	37	1	47609516	47609516	+	Missense_Mutation	SNP	G	G	A	rs143425502	byFrequency	TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr1:47609516G>A	ENST00000371891.3	+	6	749	c.718G>A	c.(718-720)Gac>Aac	p.D240N	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Intron|CYP4A22_ENST00000294337.3_Missense_Mutation_p.D240N	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	240						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCATGAGAATGACACCATCTA	0.537																																					Pancreas(88;1240 1470 2099 14214 37557)	uc001cqv.1		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(718-720)GAC>AAC		cytochrome P450, family 4, subfamily A,		G	ASN/ASP	0,4406		0,0,2203	152.0	138.0	143.0		718	1.0	0.0	1	dbSNP_134	143	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CYP4A22	NM_001010969.2	23	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	240/520	47609516	2,13004	2203	4300	6503	SO:0001583	missense	284541					endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	g.chr1:47609516G>A		CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"""Cytochrome P450s"""	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.718G>A	1.37:g.47609516G>A	ENSP00000360958:p.Asp240Asn					CYP4A22_uc009vyo.2_Missense_Mutation_p.D240N|CYP4A22_uc009vyp.2_Intron	p.D240N	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN			6	769	+			240					Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	ENST00000371891.3	37	c.718G>A	CCDS30707.1	.	.	.	.	.	.	.	.	.	.	g	11.63	1.696545	0.30142	0.0	2.33E-4	ENSG00000162365	ENST00000371891;ENST00000294337	T;T	0.68903	-0.36;-0.36	1.94	0.984	0.19773	.	0.274240	0.41500	N	0.000880	T	0.63815	0.2543	M	0.73217	2.22	0.21220	N	0.999759	B	0.26512	0.151	B	0.36766	0.232	T	0.58154	-0.7686	10	0.48119	T	0.1	.	5.8008	0.18412	0.2672:0.0:0.7328:0.0	.	240	Q5TCH4	CP4AM_HUMAN	N	240	ENSP00000360958:D240N;ENSP00000294337:D240N	ENSP00000294337:D240N	D	+	1	0	CYP4A22	47382103	0.604000	0.26932	0.028000	0.17463	0.251000	0.25915	1.253000	0.32886	0.179000	0.19938	0.194000	0.17425	GAC		0.537	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213		31	87	0	0	0	0	31	87				
SLC44A5	204962	broad.mit.edu	37	1	75685020	75685020	+	Silent	SNP	C	C	T	rs531608712		TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr1:75685020C>T	ENST00000370855.5	-	16	1301	c.1188G>A	c.(1186-1188)gcG>gcA	p.A396A	SLC44A5_ENST00000370859.3_Silent_p.A396A|SLC44A5_ENST00000535611.1_Silent_p.A266A	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	396					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A396A(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CCCCCGATGTCGCCAAGAAAC	0.393													C|||	1	0.000199681	0.0	0.0	5008	,	,		17200	0.0		0.0	False		,,,				2504	0.001					uc001dgu.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(2)|skin(2)	4						c.(1186-1188)GCG>GCA		solute carrier family 44, member 5 isoform A							89.0	83.0	85.0					1																	75685020		2203	4300	6503	SO:0001819	synonymous_variant	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75685020C>T	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1188G>A	1.37:g.75685020C>T						SLC44A5_uc001dgt.2_Silent_p.A396A|SLC44A5_uc001dgs.2_Silent_p.A354A|SLC44A5_uc001dgr.2_Silent_p.A354A|SLC44A5_uc010oqz.1_Silent_p.A435A|SLC44A5_uc010ora.1_Silent_p.A390A|SLC44A5_uc010orb.1_Silent_p.A266A	p.A396A	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN			16	1332	-			396			Cytoplasmic (Potential).		B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Silent	SNP	ENST00000370855.5	37	c.1188G>A	CCDS667.1																																																																																				0.393	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		6	33	0	0	0	0	6	33				
BCAR3	8412	broad.mit.edu	37	1	94140372	94140372	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr1:94140372G>A	ENST00000370244.1	-	4	403	c.115C>T	c.(115-117)Cca>Tca	p.P39S	BCAR3_ENST00000370243.1_Missense_Mutation_p.P39S|BCAR3_ENST00000260502.6_Missense_Mutation_p.P39S	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	39					lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TAGGCATCTGGGCGATGCTCA	0.537																																						uc001dpz.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(115-117)CCA>TCA		breast cancer antiestrogen resistance 3							75.0	69.0	71.0					1																	94140372		2203	4300	6503	SO:0001583	missense	8412				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:94140372G>A	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.115C>T	1.37:g.94140372G>A	ENSP00000359264:p.Pro39Ser					BCAR3_uc001dqa.2_Missense_Mutation_p.P39S|BCAR3_uc001dqb.2_Missense_Mutation_p.P39S	p.P39S	NM_003567	NP_003558	O75815	BCAR3_HUMAN		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	2	390	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	39					D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	ENST00000370244.1	37	c.115C>T	CCDS745.1	.	.	.	.	.	.	.	.	.	.	G	1.667	-0.509921	0.04231	.	.	ENSG00000137936	ENST00000260502;ENST00000370244;ENST00000370243	T;T;T	0.17528	2.27;2.27;2.27	5.58	-11.2	0.00127	.	1.158550	0.06221	N	0.686780	T	0.00724	0.0024	N	0.01874	-0.695	0.21499	N	0.999669	B	0.02656	0.0	B	0.01281	0.0	T	0.29518	-1.0009	10	0.02654	T	1	-0.1425	2.1713	0.03850	0.3019:0.3474:0.2277:0.123	.	39	O75815	BCAR3_HUMAN	S	39	ENSP00000260502:P39S;ENSP00000359264:P39S;ENSP00000359263:P39S	ENSP00000260502:P39S	P	-	1	0	BCAR3	93912960	0.000000	0.05858	0.000000	0.03702	0.532000	0.34746	-0.802000	0.04545	-2.032000	0.00926	-1.951000	0.00486	CCA		0.537	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			9	49	0	0	0	0	9	49				
FNDC7	163479	broad.mit.edu	37	1	109271297	109271297	+	Silent	SNP	C	C	T			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr1:109271297C>T	ENST00000370017.3	+	8	1690	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F	FNDC7_ENST00000271311.2_Silent_p.F472F	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	471	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		GGGATGCATTCTCCATGATTA	0.428																																						uc001dvx.2		NA																	0				ovary(1)|skin(1)	2						c.(1411-1413)TTC>TTT		fibronectin type III domain containing 7							110.0	99.0	103.0					1																	109271297		2203	4300	6503	SO:0001819	synonymous_variant	163479					extracellular region		g.chr1:109271297C>T		CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"""Fibronectin type III domain containing"""	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.1413C>T	1.37:g.109271297C>T						FNDC7_uc010ova.1_Silent_p.F238F	p.F471F	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)	8	1413	+		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)	472			Fibronectin type-III 6.		A1L468|E9PAZ5|Q6PF16|Q8NA51	Silent	SNP	ENST00000370017.3	37	c.1413C>T	CCDS44185.1	.	.	.	.	.	.	.	.	.	.	C	3.878	-0.026473	0.07589	.	.	ENSG00000143107	ENST00000445274	.	.	.	5.38	4.44	0.53790	.	.	.	.	.	T	0.33235	0.0856	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35624	-0.9781	4	.	.	.	-9.1616	3.9437	0.09339	0.0:0.5269:0.1753:0.2978	.	.	.	.	F	247	.	.	L	+	1	0	FNDC7	109072820	0.007000	0.16637	0.945000	0.38365	0.424000	0.31475	-0.034000	0.12225	1.438000	0.47492	0.555000	0.69702	CTC		0.428	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4	NM_173532		14	59	0	0	0	0	14	59				
DIEXF	27042	broad.mit.edu	37	1	210024731	210024731	+	Missense_Mutation	SNP	G	G	A	rs141651647		TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr1:210024731G>A	ENST00000491415.2	+	12	2267	c.2210G>A	c.(2209-2211)cGg>cAg	p.R737Q		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	737					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						GGTGTGGAGCGGGCGGCACAG	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		19693	0.001		0.0	False		,,,				2504	0.0					uc001hhr.1		NA																	0					0						c.(2209-2211)CGG>CAG		digestive-organ expansion factor homolog		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	109.0	92.0	98.0		2210	5.9	1.0	1	dbSNP_134	98	0,8600		0,0,4300	no	missense	DIEXF	NM_014388.6	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	737/757	210024731	1,13005	2203	4300	6503	SO:0001583	missense	27042				multicellular organismal development	nucleus		g.chr1:210024731G>A	BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.2210G>A	1.37:g.210024731G>A	ENSP00000419005:p.Arg737Gln					C1orf107_uc009xcu.1_Missense_Mutation_p.R452Q	p.R737Q	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0367)	12	2286	+			737					O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	ENST00000491415.2	37	c.2210G>A	CCDS1493.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	36	5.625572	0.96671	2.27E-4	0.0	ENSG00000117597	ENST00000491415	T	0.52526	0.66	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.72020	0.3409	M	0.77406	2.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71351	-0.4619	10	0.52906	T	0.07	-20.4379	20.3931	0.98965	0.0:0.0:1.0:0.0	.	737	Q68CQ4	DIEXF_HUMAN	Q	737	ENSP00000419005:R737Q	ENSP00000419005:R737Q	R	+	2	0	DIEXF	208091354	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.640000	0.98453	2.824000	0.97209	0.655000	0.94253	CGG		0.498	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		11	38	0	0	0	0	11	38				
NID1	4811	broad.mit.edu	37	1	236195924	236195924	+	Silent	SNP	C	C	A			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr1:236195924C>A	ENST00000264187.6	-	6	1396	c.1314G>T	c.(1312-1314)gtG>gtT	p.V438V	NID1_ENST00000366595.3_Silent_p.V438V	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	438	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	TCCTTCCTTTCACCTTGCCAT	0.478																																						uc001hxo.2		NA																	0				large_intestine(1)|pancreas(1)	2						c.(1312-1314)GTG>GTT		nidogen 1 precursor	Becaplermin(DB00102)|Urokinase(DB00013)						68.0	64.0	66.0					1																	236195924		2203	4300	6503	SO:0001819	synonymous_variant	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236195924C>A	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.1314G>T	1.37:g.236195924C>A						NID1_uc009xgd.2_Silent_p.V438V	p.V438V	NM_002508	NP_002499	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		6	1416	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	438			Nidogen G2 beta-barrel.		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Silent	SNP	ENST00000264187.6	37	c.1314G>T	CCDS1608.1																																																																																				0.478	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		9	40	1	0	1.13e-05	1.27e-05	9	40				
HEATR1	55127	broad.mit.edu	37	1	236766584	236766584	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr1:236766584G>A	ENST00000366582.3	-	3	349	c.235C>T	c.(235-237)Cga>Tga	p.R79*	HEATR1_ENST00000366579.1_Nonsense_Mutation_p.R79*|HEATR1_ENST00000366581.2_Nonsense_Mutation_p.R79*	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	79					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGAACACTTCGCTCCAAGGTT	0.418																																						uc001hyd.1		NA																	0				ovary(2)|skin(1)	3						c.(235-237)CGA>TGA		protein BAP28							165.0	153.0	157.0					1																	236766584		2203	4300	6503	SO:0001587	stop_gained	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236766584G>A	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.235C>T	1.37:g.236766584G>A	ENSP00000355541:p.Arg79*					HEATR1_uc001hye.1_Nonsense_Mutation_p.R79*	p.R79*	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		3	360	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	79					Q5T3Q8|Q6P197|Q9NW23	Nonsense_Mutation	SNP	ENST00000366582.3	37	c.235C>T	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	G	36	5.823186	0.96989	.	.	ENSG00000119285	ENST00000366582;ENST00000366581;ENST00000366579	.	.	.	5.39	4.39	0.52855	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.7954	0.85600	0.0:0.0:0.8624:0.1376	.	.	.	.	X	79	.	ENSP00000355538:R79X	R	-	1	2	HEATR1	234833207	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.231000	0.72307	2.533000	0.85409	0.563000	0.77884	CGA		0.418	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		11	64	0	0	0	0	11	64				
SVIL	6840	broad.mit.edu	37	10	29801693	29801693	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr10:29801693G>A	ENST00000355867.4	-	17	4239	c.3487C>T	c.(3487-3489)Cag>Tag	p.Q1163*	SVIL_ENST00000375398.2_Nonsense_Mutation_p.Q1163*|SVIL_ENST00000535393.1_Nonsense_Mutation_p.Q61*|SVIL_ENST00000375400.3_Nonsense_Mutation_p.Q737*	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1163					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CCTGCTTCCTGGGTGTGCAGG	0.542											OREG0020097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001iut.1		NA																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(3487-3489)CAG>TAG		supervillin isoform 2							87.0	81.0	83.0					10																	29801693		2203	4300	6503	SO:0001587	stop_gained	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29801693G>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.3487C>T	10.37:g.29801693G>A	ENSP00000348128:p.Gln1163*		OREG0020097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	812	SVIL_uc010qdw.1_Nonsense_Mutation_p.Q61*|SVIL_uc001iuu.1_Nonsense_Mutation_p.Q737*	p.Q1163*	NM_021738	NP_068506	O95425	SVIL_HUMAN			17	4240	-		Breast(68;0.103)	1163					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Nonsense_Mutation	SNP	ENST00000355867.4	37	c.3487C>T	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	G	47	13.582612	0.99751	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994	.	.	.	4.84	4.84	0.62591	.	0.568344	0.20473	N	0.091652	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-8.0277	18.1376	0.89624	0.0:0.0:1.0:0.0	.	.	.	.	X	737;1163;1163;61;117	.	ENSP00000348128:Q1163X	Q	-	1	0	SVIL	29841699	0.998000	0.40836	0.034000	0.17996	0.050000	0.14768	4.677000	0.61634	2.507000	0.84556	0.557000	0.71058	CAG		0.542	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			20	67	0	0	0	0	20	67				
NRP1	8829	broad.mit.edu	37	10	33474639	33474639	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr10:33474639C>T	ENST00000265371.4	-	16	2873	c.2348G>A	c.(2347-2349)gGc>gAc	p.G783D	NRP1_ENST00000395995.1_Missense_Mutation_p.G783D|NRP1_ENST00000374875.1_Missense_Mutation_p.G595D|NRP1_ENST00000374867.2_Missense_Mutation_p.G783D			O14786	NRP1_HUMAN	neuropilin 1	783	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|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)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|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)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TCCGATTTCGCCCTCGAAAAT	0.403																																					Melanoma(104;886 1489 44640 45944 51153)	uc001iwx.3		NA																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(2347-2349)GGC>GAC		neuropilin 1 isoform a	Palifermin(DB00039)|Pegaptanib(DB04895)						107.0	95.0	99.0					10																	33474639		2203	4300	6503	SO:0001583	missense	8829				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	g.chr10:33474639C>T	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.2348G>A	10.37:g.33474639C>T	ENSP00000265371:p.Gly783Asp					NRP1_uc001iwv.3_Missense_Mutation_p.G783D|NRP1_uc009xlz.2_Missense_Mutation_p.G777D|NRP1_uc001iww.3_Missense_Mutation_p.G595D|NRP1_uc001iwy.3_Missense_Mutation_p.G776D	p.G783D	NM_003873	NP_003864	O14786	NRP1_HUMAN			15	2871	-			783			Extracellular (Potential).|MAM.		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	ENST00000265371.4	37	c.2348G>A	CCDS7177.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.788429	0.90367	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995	T;T;T;T	0.02916	4.11;4.11;4.11;4.11	6.16	6.16	0.99307	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.087086	0.85682	D	0.000000	T	0.20861	0.0502	M	0.86502	2.82	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.998;0.998;0.998;0.997	D;D;D;D;P	0.71870	0.975;0.961;0.975;0.975;0.878	T	0.00063	-1.2155	10	0.87932	D	0	-21.7253	20.8598	0.99761	0.0:1.0:0.0:0.0	.	777;783;783;595;783	A8K9V7;Q68DN3;O14786;Q5JWQ6;E9PEP6	.;.;NRP1_HUMAN;.;.	D	783;595;783;783	ENSP00000265371:G783D;ENSP00000364009:G595D;ENSP00000364001:G783D;ENSP00000379317:G783D	ENSP00000265371:G783D	G	-	2	0	NRP1	33514645	1.000000	0.71417	0.973000	0.42090	0.950000	0.60333	6.864000	0.75494	2.937000	0.99478	0.650000	0.86243	GGC		0.403	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			3	43	0	0	0	0	3	43				
FAM53B	9679	broad.mit.edu	37	10	126312097	126312097	+	Missense_Mutation	SNP	C	C	T	rs575229007		TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr10:126312097C>T	ENST00000337318.3	-	5	1194	c.983G>A	c.(982-984)cGc>cAc	p.R328H	RP11-12J10.3_ENST00000494792.1_Intron|FAM53B_ENST00000392754.3_Missense_Mutation_p.R328H	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	328										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		GCTGACGTGGCGGGCGAAGGG	0.697													C|||	1	0.000199681	0.0	0.0	5008	,	,		14284	0.001		0.0	False		,,,				2504	0.0					uc001lhv.1		NA																	0				ovary(1)|pancreas(1)	2						c.(982-984)CGC>CAC		hypothetical protein LOC9679							10.0	11.0	11.0					10																	126312097		2183	4282	6465	SO:0001583	missense	9679							g.chr10:126312097C>T	D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319			28968	protein-coding gene	gene with protein product			"""KIAA0140"""	KIAA0140		8590280	Standard	NM_014661		Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000337318.3:c.983G>A	10.37:g.126312097C>T	ENSP00000338532:p.Arg328His					FAM53B_uc001lhu.1_Intron	p.R328H	NM_014661	NP_055476	Q14153	FA53B_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)	5	1506	-		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)	328					D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Missense_Mutation	SNP	ENST00000337318.3	37	c.983G>A	CCDS7641.1	.	.	.	.	.	.	.	.	.	.	C	3.652	-0.071308	0.07228	.	.	ENSG00000189319	ENST00000337318;ENST00000392754	.	.	.	4.1	1.68	0.24146	.	0.347005	0.27491	N	0.019126	T	0.07863	0.0197	N	0.08118	0	0.09310	N	1	P	0.44044	0.825	B	0.30855	0.121	T	0.22977	-1.0201	9	0.31617	T	0.26	-8.5486	4.3438	0.11122	0.6675:0.2183:0.1143:0.0	.	328	Q14153	FA53B_HUMAN	H	328	.	ENSP00000338532:R328H	R	-	2	0	FAM53B	126302087	0.005000	0.15991	0.893000	0.35052	0.318000	0.28184	0.747000	0.26290	0.640000	0.30582	-0.262000	0.10625	CGC		0.697	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050879.1	NM_014661		7	5	0	0	0	0	7	5				
SLC25A22	79751	broad.mit.edu	37	11	792587	792587	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr11:792587C>T	ENST00000320230.5	-	7	1034	c.553G>A	c.(553-555)Ggt>Agt	p.G185S	CEND1_ENST00000330106.4_5'Flank|SLC25A22_ENST00000531214.1_Missense_Mutation_p.G185S|CEND1_ENST00000524587.1_5'Flank	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	185					L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTGTAGAGACCGGCAATGCCA	0.736																																					Colon(93;848 1468 3270 23355 49636)	uc001lri.2		NA																	0					0						c.(553-555)GGT>AGT		mitochondrial glutamate carrier 1	L-Glutamic Acid(DB00142)						14.0	15.0	15.0					11																	792587		2198	4285	6483	SO:0001583	missense	79751					integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity	g.chr11:792587C>T	AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"""Solute carriers"""	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310	ENST00000320230.5:c.553G>A	11.37:g.792587C>T	ENSP00000322020:p.Gly185Ser					CEND1_uc001lrh.1_5'Flank|SLC25A22_uc009yci.2_Missense_Mutation_p.G185S|SLC25A22_uc001lrj.2_Missense_Mutation_p.G185S	p.G185S	NM_024698	NP_078974	Q9H936	GHC1_HUMAN		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	7	895	-		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	185			Solcar 2.		A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Missense_Mutation	SNP	ENST00000320230.5	37	c.553G>A	CCDS7715.1	.	.	.	.	.	.	.	.	.	.	c	17.60	3.429041	0.62844	.	.	ENSG00000177542	ENST00000320230;ENST00000531214;ENST00000481290;ENST00000531437	D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59	3.49	3.49	0.39957	Mitochondrial carrier domain (2);	0.124621	0.53938	N	0.000054	D	0.88115	0.6350	M	0.64080	1.96	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	D	0.88444	0.3044	10	0.54805	T	0.06	-22.3516	12.3819	0.55311	0.1686:0.8314:0.0:0.0	.	185	Q9H936	GHC1_HUMAN	S	185;185;210;181	ENSP00000322020:G185S;ENSP00000437236:G185S;ENSP00000431829:G210S;ENSP00000435862:G181S	ENSP00000322020:G185S	G	-	1	0	SLC25A22	782587	1.000000	0.71417	0.960000	0.40013	0.223000	0.24884	5.766000	0.68843	1.945000	0.56424	0.493000	0.49557	GGT		0.736	SLC25A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257107.2			7	18	0	0	0	0	7	18				
PTPRJ	5795	broad.mit.edu	37	11	48145371	48145371	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr11:48145371C>G	ENST00000418331.2	+	5	1175	c.823C>G	c.(823-825)Cta>Gta	p.L275V	PTPRJ_ENST00000440289.2_Missense_Mutation_p.L275V	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	275	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CCCGTATCTTCTACAATCAAA	0.473																																						uc001ngp.3		NA																	0				breast(3)|kidney(3)|ovary(1)|skin(1)	8						c.(823-825)CTA>GTA		protein tyrosine phosphatase, receptor type, J							72.0	69.0	70.0					11																	48145371		2201	4298	6499	SO:0001583	missense	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48145371C>G	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.823C>G	11.37:g.48145371C>G	ENSP00000400010:p.Leu275Val					PTPRJ_uc001ngo.3_Missense_Mutation_p.L275V	p.L275V	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN			5	1178	+			275			Extracellular (Potential).|Fibronectin type-III 2.|Fibronectin type-III 3.		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	c.823C>G	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	C	9.906	1.208160	0.22205	.	.	ENSG00000149177	ENST00000278456;ENST00000418331;ENST00000440289	T;T	0.34472	2.57;1.36	5.55	1.18	0.20946	Fibronectin, type III (2);	.	.	.	.	T	0.18509	0.0444	L	0.27053	0.805	0.09310	N	1	B;P	0.49559	0.083;0.925	B;B	0.41764	0.012;0.366	T	0.10474	-1.0628	9	0.05525	T	0.97	.	4.9707	0.14113	0.1644:0.6189:0.0:0.2167	.	275;275	Q12913;Q6P4H4	PTPRJ_HUMAN;.	V	275	ENSP00000400010:L275V;ENSP00000409733:L275V	ENSP00000278456:L275V	L	+	1	2	PTPRJ	48101947	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.231000	0.09069	0.007000	0.14760	-0.142000	0.14014	CTA		0.473	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			24	63	0	0	0	0	24	63				
SPTBN2	6712	broad.mit.edu	37	11	66457726	66457726	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr11:66457726C>T	ENST00000533211.1	-	28	5925	c.5594G>A	c.(5593-5595)cGg>cAg	p.R1865Q	SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1865Q|SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1865Q			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1865					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CTTCTGGAGCCGGTGGCCGTC	0.701																																						uc001ojd.2		NA																	0				large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(5593-5595)CGG>CAG		spectrin, beta, non-erythrocytic 2							16.0	18.0	17.0					11																	66457726		2197	4291	6488	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66457726C>T	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.5594G>A	11.37:g.66457726C>T	ENSP00000432568:p.Arg1865Gln					SPTBN2_uc001ojc.1_5'Flank	p.R1865Q	NM_006946	NP_008877	O15020	SPTN2_HUMAN			27	5666	-			1865			Spectrin 15.		O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.5594G>A	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347926	0.61183	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.48201	0.82;0.82;0.82	4.75	3.84	0.44239	.	0.000000	0.85682	D	0.000000	T	0.44932	0.1317	L	0.61218	1.895	0.53688	D	0.999973	D	0.58970	0.984	B	0.43680	0.427	T	0.39354	-0.9618	10	0.24483	T	0.36	.	11.9189	0.52781	0.0:0.9143:0.0:0.0857	.	1865	O15020	SPTN2_HUMAN	Q	1865	ENSP00000432568:R1865Q;ENSP00000311489:R1865Q;ENSP00000433593:R1865Q	ENSP00000311489:R1865Q	R	-	2	0	SPTBN2	66214302	1.000000	0.71417	0.845000	0.33349	0.440000	0.31957	5.885000	0.69736	1.243000	0.43853	-0.251000	0.11542	CGG		0.701	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		5	10	0	0	0	0	5	10				
ERC1	23085	broad.mit.edu	37	12	1553834	1553834	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr12:1553834G>A	ENST00000397203.2	+	18	3537	c.3131G>A	c.(3130-3132)gGa>gAa	p.G1044E	ERC1_ENST00000355446.5_Missense_Mutation_p.G1044E|ERC1_ENST00000360905.4_Missense_Mutation_p.G1044E|ERC1_ENST00000589028.1_Missense_Mutation_p.G1044E|ERC1_ENST00000546231.2_Missense_Mutation_p.G1048E|ERC1_ENST00000543086.3_Missense_Mutation_p.G1016E			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	1044					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			ATCCTCCGTGGACTCACTCCA	0.522																																						uc001qjb.2		NA																	0				ovary(2)|lung(2)|breast(1)	5						c.(3130-3132)GGA>GAA		RAB6-interacting protein 2 isoform epsilon							87.0	94.0	92.0					12																	1553834		2203	4300	6503	SO:0001583	missense	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1553834G>A	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.3131G>A	12.37:g.1553834G>A	ENSP00000380386:p.Gly1044Glu					ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Missense_Mutation_p.G1016E|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_RNA|ERC1_uc001qjf.2_Missense_Mutation_p.G1044E|ERC1_uc010sdv.1_3'UTR|ERC1_uc001qje.2_RNA	p.G1044E	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		18	3372	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		1044					A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	c.3131G>A	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.439486	0.25900	.	.	ENSG00000082805	ENST00000397203;ENST00000543086;ENST00000546231;ENST00000355446;ENST00000360905	T;T;T;T	0.21361	2.03;2.02;2.01;2.03	5.53	5.53	0.82687	.	0.331422	0.28549	N	0.014954	T	0.10465	0.0256	N	0.03608	-0.345	0.34423	D	0.697718	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.14008	-1.0488	10	0.38643	T	0.18	-20.7753	12.8182	0.57677	0.0746:0.0:0.9254:0.0	.	1016;1044	Q8IUD2-3;Q8IUD2	.;RB6I2_HUMAN	E	1044;1016;1044;1044;1044	ENSP00000380386:G1044E;ENSP00000438546:G1016E;ENSP00000347621:G1044E;ENSP00000354158:G1044E	ENSP00000347621:G1044E	G	+	2	0	ERC1	1424095	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.992000	0.70609	2.618000	0.88619	0.650000	0.86243	GGA		0.522	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		29	95	0	0	0	0	29	95				
CTDSP2	10106	broad.mit.edu	37	12	58217826	58217826	+	Missense_Mutation	SNP	C	C	T	rs373350059		TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr12:58217826C>T	ENST00000398073.2	-	7	854	c.551G>A	c.(550-552)cGg>cAg	p.R184Q	MIR26A2_ENST00000385054.1_RNA|CTDSP2_ENST00000548823.1_Intron|CTDSP2_ENST00000547701.1_Missense_Mutation_p.R32Q	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2	184	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein dephosphorylation (GO:0006470)	nucleoplasm (GO:0005654)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					TAGGCGGGCCCGGAACACCCC	0.587																																						uc001sqm.2		NA																	0				central_nervous_system(1)	1						c.(550-552)CGG>CAG		nuclear LIM interactor-interacting factor 2		C	GLN/ARG	0,4086		0,0,2043	29.0	34.0	32.0		551	5.6	1.0	12		32	1,8409		0,1,4204	no	missense	CTDSP2	NM_005730.3	43	0,1,6247	TT,TC,CC		0.0119,0.0,0.0080	possibly-damaging	184/272	58217826	1,12495	2043	4205	6248	SO:0001583	missense	10106				protein dephosphorylation	nucleus|soluble fraction	CTD phosphatase activity|metal ion binding	g.chr12:58217826C>T	AF000152	CCDS41801.1	12q14.1	2012-06-14			ENSG00000175215	ENSG00000175215		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	17077	protein-coding gene	gene with protein product	"""conserved gene amplified in osteosarcoma"", ""nuclear LIM interactor-interacting factor 2"", ""NLI-interacting factor 2"", ""small CTD phosphatase 2"""	608711				9315096, 12721286	Standard	XM_005268556		Approved	OS4, SCP2, PSR2	uc001sqm.3	O14595	OTTHUMG00000170483	ENST00000398073.2:c.551G>A	12.37:g.58217826C>T	ENSP00000381148:p.Arg184Gln					CTDSP2_uc010ssg.1_Missense_Mutation_p.R58Q|CTDSP2_uc009zqf.2_Missense_Mutation_p.R32Q|CTDSP2_uc009zqg.2_Intron	p.R184Q	NM_005730	NP_005721	O14595	CTDS2_HUMAN			7	1080	-	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)		184			FCP1 homology.		A8K5H4|Q53ZR2|Q6NZY3|Q9UEX1	Missense_Mutation	SNP	ENST00000398073.2	37	c.551G>A	CCDS41801.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715566	0.68844	0.0	1.19E-4	ENSG00000175215	ENST00000398073;ENST00000547701	T;T	0.16597	2.33;2.33	5.56	5.56	0.83823	NLI interacting factor (3);Dullard phosphatase domain, eukaryotic (1);HAD-like domain (2);	0.052004	0.85682	D	0.000000	T	0.19725	0.0474	L	0.49571	1.57	0.80722	D	1	B;D	0.55800	0.242;0.973	B;B	0.39935	0.038;0.314	T	0.01420	-1.1359	10	0.72032	D	0.01	-28.0023	18.4399	0.90662	0.0:1.0:0.0:0.0	.	58;184	B4DH48;O14595	.;CTDS2_HUMAN	Q	184;32	ENSP00000381148:R184Q;ENSP00000446705:R32Q	ENSP00000381148:R184Q	R	-	2	0	CTDSP2	56504093	1.000000	0.71417	1.000000	0.80357	0.071000	0.16799	7.588000	0.82629	2.890000	0.99128	0.655000	0.94253	CGG		0.587	CTDSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409353.1	NM_005730		4	28	0	0	0	0	4	28				
CATSPERB	79820	broad.mit.edu	37	14	92136312	92136312	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr14:92136312C>T	ENST00000256343.3	-	14	1289	c.1133G>A	c.(1132-1134)aGg>aAg	p.R378K		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	378					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				GGCAGTTTTCCTGACCTAGGT	0.358																																						uc001xzs.1		NA																	0				breast(2)|skin(2)|ovary(1)	5						c.(1132-1134)AGG>AAG		cation channel, sperm-associated, beta							107.0	112.0	110.0					14																	92136312		2203	4300	6503	SO:0001583	missense	79820				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr14:92136312C>T	AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.1133G>A	14.37:g.92136312C>T	ENSP00000256343:p.Arg378Lys					CATSPERB_uc010aub.1_5'UTR	p.R378K	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN			14	1273	-		all_cancers(154;0.0663)|all_epithelial(191;0.236)	378					A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	c.1133G>A	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	C	0.180	-1.063239	0.01950	.	.	ENSG00000133962	ENST00000256343	T	0.44482	0.92	5.05	-0.698	0.11280	.	12.146700	0.00166	N	0.000009	T	0.16041	0.0386	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35724	-0.9777	10	0.02654	T	1	4.8911	6.908	0.24319	0.0:0.0885:0.4741:0.4375	.	378	Q9H7T0	CTSRB_HUMAN	K	378	ENSP00000256343:R378K	ENSP00000256343:R378K	R	-	2	0	CATSPERB	91206065	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	-0.110000	0.10824	-0.046000	0.13446	-0.605000	0.04089	AGG		0.358	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764		21	42	0	0	0	0	21	42				
CYLD	1540	broad.mit.edu	37	16	50818266	50818266	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr16:50818266A>C	ENST00000427738.3	+	11	2058	c.1853A>C	c.(1852-1854)gAc>gCc	p.D618A	RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000568704.2_Missense_Mutation_p.D433A|CYLD_ENST00000398568.2_Missense_Mutation_p.D615A|CYLD_ENST00000540145.1_Missense_Mutation_p.D618A|CYLD_ENST00000564326.1_Missense_Mutation_p.D615A|CYLD_ENST00000311559.9_Missense_Mutation_p.D618A|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000566206.1_Missense_Mutation_p.D615A|CYLD_ENST00000569418.1_Missense_Mutation_p.D615A			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	618	USP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TCTGTTCTGGACACTGTGTTA	0.318			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													uc002egp.1		NA	yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	Mis|N|F|S	familial cylindromatosis gene			E		cylindroma	cylindroma		0				skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28						c.(1852-1854)GAC>GCC		ubiquitin carboxyl-terminal hydrolase CYLD							109.0	101.0	104.0					16																	50818266		1821	4077	5898	SO:0001583	missense	1540	Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50818266A>C	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.1853A>C	16.37:g.50818266A>C	ENSP00000392025:p.Asp618Ala					CYLD_uc002ego.2_Missense_Mutation_p.D615A|CYLD_uc010cbs.1_Missense_Mutation_p.D615A|CYLD_uc002egq.1_Missense_Mutation_p.D615A|CYLD_uc002egr.1_Missense_Mutation_p.D615A|CYLD_uc002egs.1_Missense_Mutation_p.D615A	p.D618A	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN			12	2268	+		all_cancers(37;0.0156)	618					O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	ENST00000427738.3	37	c.1853A>C	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.638309	0.87760	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	T;T;T	0.75050	-0.9;-0.9;-0.9	5.54	5.54	0.83059	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.86343	0.5910	M	0.77103	2.36	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.997;0.997;0.998	D	0.88129	0.2837	10	0.87932	D	0	-26.2983	15.971	0.80019	1.0:0.0:0.0:0.0	.	615;618;615;618	A8KAB0;F5H2R7;Q9NQC7-2;Q9NQC7	.;.;.;CYLD_HUMAN	A	618;618;615;615	ENSP00000445447:D618A;ENSP00000308928:D618A;ENSP00000381574:D615A	ENSP00000308928:D618A	D	+	2	0	CYLD	49375767	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.614000	0.90917	2.223000	0.72356	0.533000	0.62120	GAC		0.318	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			18	56	0	0	0	0	18	56				
CCDC113	29070	broad.mit.edu	37	16	58287951	58287951	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr16:58287951T>C	ENST00000219299.4	+	3	357	c.278T>C	c.(277-279)gTa>gCa	p.V93A	CCDC113_ENST00000443128.2_Intron	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	93						cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						GACCGTGGGGTAGGCCTGACT	0.507																																						uc002ene.2		NA																	0					0						c.(277-279)GTA>GCA		coiled-coil domain containing 113 isoform 1							142.0	112.0	122.0					16																	58287951		2198	4300	6498	SO:0001583	missense	29070					protein complex		g.chr16:58287951T>C	AL136785	CCDS10795.1, CCDS45497.1	16q21	2008-02-05			ENSG00000103021	ENSG00000103021			25002	protein-coding gene	gene with protein product						11230166, 11042152	Standard	NM_014157		Approved	HSPC065, DKFZp434N1418	uc002ene.3	Q9H0I3	OTTHUMG00000133489	ENST00000219299.4:c.278T>C	16.37:g.58287951T>C	ENSP00000219299:p.Val93Ala					CCDC113_uc010vid.1_Intron	p.V93A	NM_014157	NP_054876	Q9H0I3	CC113_HUMAN			3	357	+			93					B2RAQ7|B4DR20|Q9NZX2	Missense_Mutation	SNP	ENST00000219299.4	37	c.278T>C	CCDS10795.1	.	.	.	.	.	.	.	.	.	.	T	11.01	1.512334	0.27036	.	.	ENSG00000103021	ENST00000219299	T	0.31247	1.5	5.55	-3.74	0.04385	.	1.268320	0.05211	N	0.506710	T	0.18759	0.0450	N	0.25647	0.755	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.37502	-0.9703	10	0.07030	T	0.85	1.1582	11.4696	0.50261	0.0:0.2867:0.0:0.7133	.	93	Q9H0I3	CC113_HUMAN	A	93	ENSP00000219299:V93A	ENSP00000219299:V93A	V	+	2	0	CCDC113	56845452	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.492000	0.06467	-0.868000	0.04058	0.533000	0.62120	GTA		0.507	CCDC113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257387.2	NM_014157		6	75	0	0	0	0	6	75				
RASL10B	91608	broad.mit.edu	37	17	34067531	34067531	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr17:34067531G>A	ENST00000268864.3	+	3	697	c.320G>A	c.(319-321)cGc>cAc	p.R107H		NM_033315.3	NP_201572.1	Q96S79	RSLAB_HUMAN	RAS-like, family 10, member B	107	Small GTPase-like.				GTP catabolic process (GO:0006184)|positive regulation of peptide hormone secretion (GO:0090277)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAGACCATCCGCCAGCAGATC	0.577																																						uc002hju.2		NA																	0				lung(2)|breast(2)	4						c.(319-321)CGC>CAC		RAS-like, family 10, member B precursor							93.0	79.0	84.0					17																	34067531		2203	4300	6503	SO:0001583	missense	91608				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr17:34067531G>A	BC041133	CCDS11297.1	17q21.1	2014-05-09			ENSG00000141150	ENSG00000270885			30295	protein-coding gene	gene with protein product		612128				12477932	Standard	NM_033315		Approved	VTS58635, RRP17	uc002hju.3	Q96S79	OTTHUMG00000188385	ENST00000268864.3:c.320G>A	17.37:g.34067531G>A	ENSP00000268864:p.Arg107His						p.R107H	NM_033315	NP_201572	Q96S79	RSLAB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	3	686	+			107			Small GTPase-like.		B3KV31	Missense_Mutation	SNP	ENST00000268864.3	37	c.320G>A	CCDS11297.1	.	.	.	.	.	.	.	.	.	.	G	35	5.425329	0.96131	.	.	ENSG00000141150	ENST00000268864	T	0.79845	-1.31	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000006	D	0.87301	0.6143	L	0.52759	1.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88349	0.2980	10	0.87932	D	0	.	17.4782	0.87666	0.0:0.0:1.0:0.0	.	107	Q96S79	RSLAB_HUMAN	H	107	ENSP00000268864:R107H	ENSP00000268864:R107H	R	+	2	0	RASL10B	31091644	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.395000	0.97266	2.612000	0.88384	0.561000	0.74099	CGC		0.577	RASL10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256498.2	NM_033315		21	43	0	0	0	0	21	43				
ABCA8	10351	broad.mit.edu	37	17	66898960	66898960	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr17:66898960T>C	ENST00000269080.2	-	19	2675	c.2538A>G	c.(2536-2538)atA>atG	p.I846M	ABCA8_ENST00000586539.1_Missense_Mutation_p.I886M|ABCA8_ENST00000430352.2_Missense_Mutation_p.I886M	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	846					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TGTTTTGATATATTTTCACCA	0.378																																						uc002jhp.2		NA																	0				ovary(2)|skin(1)	3						c.(2536-2538)ATA>ATG		ATP-binding cassette, sub-family A member 8							92.0	89.0	90.0					17																	66898960		2203	4300	6503	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66898960T>C	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.2538A>G	17.37:g.66898960T>C	ENSP00000269080:p.Ile846Met					ABCA8_uc002jhq.2_Missense_Mutation_p.I886M|ABCA8_uc010wqq.1_Missense_Mutation_p.I886M|ABCA8_uc010wqr.1_Missense_Mutation_p.I825M|ABCA8_uc002jhr.2_Missense_Mutation_p.I886M	p.I846M	NM_007168	NP_009099	O94911	ABCA8_HUMAN			19	2717	-	Breast(10;4.56e-13)		846					A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.2538A>G	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	T	7.822	0.717914	0.15372	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	T;T	0.76968	-1.06;-1.06	5.13	-10.3	0.00346	.	0.878585	0.09660	N	0.772615	T	0.54727	0.1876	L	0.31752	0.955	0.09310	N	1	B;B;B;B;B	0.17268	0.021;0.002;0.012;0.004;0.005	B;B;B;B;B	0.21917	0.025;0.004;0.018;0.037;0.011	T	0.41538	-0.9503	10	0.41790	T	0.15	.	1.8291	0.03127	0.43:0.2647:0.1742:0.1311	.	825;886;886;886;846	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	M	846;886;825	ENSP00000269080:I846M;ENSP00000402814:I886M	ENSP00000269080:I846M	I	-	3	3	ABCA8	64410555	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.654000	0.00855	-2.717000	0.00390	-1.054000	0.02325	ATA		0.378	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		15	62	0	0	0	0	15	62				
ZCCHC2	54877	broad.mit.edu	37	18	60241452	60241452	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr18:60241452A>C	ENST00000269499.5	+	13	2556	c.2138A>C	c.(2137-2139)tAt>tCt	p.Y713S	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.Y392S	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	713						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TCACCCAAGTATCAGCATATT	0.443																																						uc002lip.3		NA																	0				lung(1)|prostate(1)	2						c.(2137-2139)TAT>TCT		zinc finger, CCHC domain containing 2							183.0	174.0	177.0					18																	60241452		1916	4141	6057	SO:0001583	missense	54877				cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr18:60241452A>C	AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"""Zinc fingers, CCHC domain containing"""	22916	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 49"""	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.2138A>C	18.37:g.60241452A>C	ENSP00000269499:p.Tyr713Ser					ZCCHC2_uc002lio.2_RNA|ZCCHC2_uc002liq.2_Missense_Mutation_p.Y183S	p.Y713S	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN			13	2138	+			713					B2RPG6|Q8N3S1|Q9NXF6	Missense_Mutation	SNP	ENST00000269499.5	37	c.2138A>C	CCDS45880.1	.	.	.	.	.	.	.	.	.	.	A	14.36	2.513282	0.44660	.	.	ENSG00000141664	ENST00000269499	T	0.34667	1.35	5.91	5.91	0.95273	.	0.102226	0.44097	D	0.000492	T	0.39989	0.1099	L	0.27053	0.805	0.43879	D	0.996497	D	0.76494	0.999	P	0.59115	0.852	T	0.16541	-1.0399	10	0.33940	T	0.23	-15.3182	11.1978	0.48724	0.8307:0.0:0.0:0.1693	.	713	Q9C0B9	ZCHC2_HUMAN	S	713	ENSP00000269499:Y713S	ENSP00000269499:Y713S	Y	+	2	0	ZCCHC2	58392432	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.512000	0.53407	2.254000	0.74563	0.533000	0.62120	TAT		0.443	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450083.1	NM_017742		46	178	0	0	0	0	46	178				
DAPK3	1613	broad.mit.edu	37	19	3964913	3964913	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr19:3964913G>A	ENST00000545797.2	-	3	382	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C	DAPK3_ENST00000301264.3_Missense_Mutation_p.R47C			O43293	DAPK3_HUMAN	death-associated protein kinase 3	47	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GACAGGCGGCGCTTCTTGATG	0.647																																						uc002lzc.1		NA																	0				central_nervous_system(3)|lung(2)|ovary(1)|large_intestine(1)	7						c.(139-141)CGC>TGC		death-associated protein kinase 3							71.0	73.0	72.0					19																	3964913		2203	4300	6503	SO:0001583	missense	1613				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity	g.chr19:3964913G>A	AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.139C>T	19.37:g.3964913G>A	ENSP00000442973:p.Arg47Cys					DAPK3_uc002lzd.1_Missense_Mutation_p.R47C	p.R47C	NM_001348	NP_001339	O43293	DAPK3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	2	232	-		Hepatocellular(1079;0.137)	47			Protein kinase.		A0AVN4|B3KQE2|Q05JY4	Missense_Mutation	SNP	ENST00000545797.2	37	c.139C>T	CCDS12116.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379683	0.82682	.	.	ENSG00000167657	ENST00000301264;ENST00000545797	T;T	0.67345	-0.26;-0.26	5.7	4.63	0.57726	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	0.79684	0.4488	M	0.66378	2.025	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.81602	-0.0858	10	0.87932	D	0	.	15.2026	0.73153	0.0:0.0:0.859:0.141	.	47	O43293	DAPK3_HUMAN	C	47	ENSP00000301264:R47C;ENSP00000442973:R47C	ENSP00000301264:R47C	R	-	1	0	DAPK3	3915913	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	4.456000	0.60081	2.691000	0.91804	0.561000	0.74099	CGC		0.647	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457817.2	NM_001348		24	73	0	0	0	0	24	73				
DNMT1	1786	broad.mit.edu	37	19	10249194	10249194	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr19:10249194G>A	ENST00000340748.4	-	34	4223	c.3988C>T	c.(3988-3990)Cca>Tca	p.P1330S	DNMT1_ENST00000540357.1_Missense_Mutation_p.P1330S|DNMT1_ENST00000359526.4_Missense_Mutation_p.P1346S|DNMT1_ENST00000589538.1_5'Flank			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1330	Catalytic.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.|SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	ACGTGCAGTGGCTCCGGGAAC	0.652																																						uc002mng.2		NA																	0				ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6						c.(3988-3990)CCA>TCA		DNA (cytosine-5-)-methyltransferase 1 isoform b	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						63.0	58.0	60.0					19																	10249194		2203	4300	6503	SO:0001583	missense	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10249194G>A	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.3988C>T	19.37:g.10249194G>A	ENSP00000345739:p.Pro1330Ser					DNMT1_uc002mne.2_RNA|DNMT1_uc002mnf.2_Missense_Mutation_p.P254S|DNMT1_uc010xlc.1_Missense_Mutation_p.P1346S|DNMT1_uc002mnh.2_Missense_Mutation_p.P1225S|DNMT1_uc010xld.1_Missense_Mutation_p.P1330S	p.P1330S	NM_001379	NP_001370	P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		34	4168	-			1330			Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	c.3988C>T	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987374	0.53934	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.51817	0.69;0.69;0.69	5.55	3.41	0.39046	.	0.106709	0.64402	D	0.000004	T	0.69278	0.3093	M	0.86864	2.845	0.54753	D	0.999987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.71676	-0.4521	10	0.87932	D	0	.	9.6511	0.39897	0.0752:0.0:0.783:0.1418	.	1330;1346;1330	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	S	1346;1330;1330;1198	ENSP00000352516:P1346S;ENSP00000440457:P1330S;ENSP00000345739:P1330S	ENSP00000345739:P1330S	P	-	1	0	DNMT1	10110194	1.000000	0.71417	0.761000	0.31378	0.095000	0.18619	9.382000	0.97209	0.697000	0.31718	-0.169000	0.13324	CCA		0.652	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		12	57	0	0	0	0	12	57				
NOTCH3	4854	broad.mit.edu	37	19	15298078	15298078	+	Missense_Mutation	SNP	C	C	T	rs200160665		TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr19:15298078C>T	ENST00000263388.2	-	11	1753	c.1678G>A	c.(1678-1680)Gtg>Atg	p.V560M		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	560	EGF-like 14; calcium-binding. {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)			ATGCCATCCACGCAGCGACCA	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		15025	0.0		0.001	False		,,,				2504	0.0					uc002nan.2		NA																	0				lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21						c.(1678-1680)GTG>ATG		Notch homolog 3 precursor							77.0	63.0	67.0					19																	15298078		2203	4300	6503	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15298078C>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.1678G>A	19.37:g.15298078C>T	ENSP00000263388:p.Val560Met					NOTCH3_uc002nao.1_Missense_Mutation_p.V560M	p.V560M	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)		11	1754	-			560			Extracellular (Potential).|EGF-like 14; calcium-binding (Potential).		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.1678G>A	CCDS12326.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.55	3.155887	0.57259	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.92647	-3.08	4.51	3.38	0.38709	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.93782	0.8012	M	0.63428	1.95	0.40855	D	0.983785	D;P	0.57571	0.98;0.943	P;P	0.61397	0.888;0.667	D	0.93464	0.6813	9	0.49607	T	0.09	.	12.1607	0.54103	0.0:0.6946:0.3054:0.0	.	563;560	Q59FL3;Q9UM47	.;NOTC3_HUMAN	M	560;562	ENSP00000263388:V560M	ENSP00000263388:V560M	V	-	1	0	NOTCH3	15159078	0.021000	0.18746	0.985000	0.45067	0.965000	0.64279	0.122000	0.15687	2.215000	0.71742	0.655000	0.94253	GTG		0.662	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		10	36	0	0	0	0	10	36				
NCAPH	23397	broad.mit.edu	37	2	97019076	97019076	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr2:97019076A>T	ENST00000240423.4	+	8	986	c.943A>T	c.(943-945)Atc>Ttc	p.I315F	NCAPH_ENST00000455200.1_Missense_Mutation_p.I304F|NCAPH_ENST00000427946.1_Missense_Mutation_p.I179F	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	315					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				AGATCGCCAGATCTGCCCTTC	0.502																																						uc002svz.1		NA																	0				urinary_tract(1)|skin(1)	2						c.(943-945)ATC>TTC		non-SMC condensin I complex, subunit H							122.0	103.0	110.0					2																	97019076		2203	4300	6503	SO:0001583	missense	23397				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		g.chr2:97019076A>T	BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"""barren (Drosophila) homolog"", ""barren homolog (Drosophila)"", ""barren homolog 1 (Drosophila)"""	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.943A>T	2.37:g.97019076A>T	ENSP00000240423:p.Ile315Phe					NCAPH_uc010fhu.1_Missense_Mutation_p.I291F|NCAPH_uc010fhv.1_Missense_Mutation_p.I304F|NCAPH_uc010yum.1_Missense_Mutation_p.I291F|NCAPH_uc010fhw.1_Missense_Mutation_p.I304F|NCAPH_uc010yun.1_Missense_Mutation_p.I179F|NCAPH_uc002swa.1_5'UTR	p.I315F	NM_015341	NP_056156	Q15003	CND2_HUMAN			8	1027	+		Ovarian(717;0.0221)	315					B4E189|Q8TB87	Missense_Mutation	SNP	ENST00000240423.4	37	c.943A>T	CCDS2021.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.599491	0.87055	.	.	ENSG00000121152	ENST00000240423;ENST00000427946;ENST00000435975;ENST00000456906;ENST00000455200	T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26	5.76	3.49	0.39957	.	0.098313	0.64402	D	0.000002	T	0.70090	0.3184	M	0.80746	2.51	0.49130	D	0.999751	D;D;D;D	0.61697	0.99;0.99;0.978;0.99	P;P;P;P	0.61658	0.892;0.892;0.794;0.892	T	0.69522	-0.5123	10	0.72032	D	0.01	-14.433	6.7809	0.23646	0.7255:0.1893:0.0852:0.0	.	291;304;304;315	B4DRG7;E9PHA2;C9J470;Q15003	.;.;.;CND2_HUMAN	F	315;179;304;196;304	ENSP00000240423:I315F;ENSP00000400774:I179F;ENSP00000405237:I304F;ENSP00000401227:I196F;ENSP00000407308:I304F	ENSP00000240423:I315F	I	+	1	0	NCAPH	96382803	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.077000	0.41557	0.513000	0.28278	0.533000	0.62120	ATC		0.502	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	NM_015341		16	36	0	0	0	0	16	36				
SCN3A	6328	broad.mit.edu	37	2	165997340	165997340	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr2:165997340G>A	ENST00000360093.3	-	13	2331	c.1840C>T	c.(1840-1842)Ccg>Tcg	p.P614S	SCN3A_ENST00000283254.7_Missense_Mutation_p.P614S|SCN3A_ENST00000409101.3_Missense_Mutation_p.P614S	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	614					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)	TGTCTGTGCGGCACAAACAGT	0.507																																						uc002ucx.2		NA																	0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(1840-1842)CCG>TCG		sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)						225.0	163.0	184.0					2																	165997340		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165997340G>A	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.1840C>T	2.37:g.165997340G>A	ENSP00000353206:p.Pro614Ser					SCN3A_uc002ucy.2_Missense_Mutation_p.P614S|SCN3A_uc002ucz.2_Missense_Mutation_p.P614S|SCN3A_uc002uda.1_Missense_Mutation_p.P483S|SCN3A_uc002udb.1_Missense_Mutation_p.P483S	p.P614S	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			13	2332	-			614					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.1840C>T		.	.	.	.	.	.	.	.	.	.	G	22.7	4.325920	0.81580	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.97994	-4.65;-4.65;-4.65;-4.65	6.07	6.07	0.98685	Domain of unknown function DUF3451 (1);	0.000000	0.64402	D	0.000008	D	0.99124	0.9698	M	0.92555	3.32	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.983;1.0;1.0;1.0	D;P;D;D;D	0.87578	0.998;0.901;0.998;0.998;0.991	D	0.99184	1.0868	10	0.87932	D	0	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	614;614;614;614;614	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	S	614	ENSP00000353206:P614S;ENSP00000283254:P614S;ENSP00000386726:P614S;ENSP00000403348:P614S	ENSP00000283254:P614S	P	-	1	0	SCN3A	165705586	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.813000	0.99286	2.885000	0.99019	0.655000	0.94253	CCG		0.507	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		4	59	0	0	0	0	4	59				
SCN7A	6332	broad.mit.edu	37	2	167273486	167273486	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr2:167273486T>C	ENST00000409855.1	-	20	3271	c.3145A>G	c.(3145-3147)Aga>Gga	p.R1049G		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1049					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	ATCAAAGCTCTCACAACCACC	0.323																																						uc002udu.1		NA																	0				large_intestine(1)	1						c.(3145-3147)AGA>GGA		sodium channel, voltage-gated, type VII, alpha							30.0	26.0	27.0					2																	167273486		1828	4075	5903	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167273486T>C	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.3145A>G	2.37:g.167273486T>C	ENSP00000386796:p.Arg1049Gly					SCN7A_uc010fpm.1_RNA	p.R1049G	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			20	3272	-			1049						Missense_Mutation	SNP	ENST00000409855.1	37	c.3145A>G	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	T	9.521	1.108219	0.20714	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.98313	-4.86	5.1	3.94	0.45596	Ion transport (1);	0.660669	0.14630	N	0.307861	D	0.94159	0.8126	N	0.12887	0.27	0.31347	N	0.682923	B	0.23185	0.081	B	0.25506	0.061	D	0.92720	0.6190	10	0.72032	D	0.01	.	9.1054	0.36694	0.0:0.0867:0.0:0.9133	.	1049	Q01118	SCN7A_HUMAN	G	1049	ENSP00000386796:R1049G	ENSP00000259060:R1049G	R	-	1	2	SCN7A	166981732	1.000000	0.71417	0.999000	0.59377	0.011000	0.07611	7.821000	0.86641	0.970000	0.38263	-0.297000	0.09499	AGA		0.323	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			4	15	0	0	0	0	4	15				
TTN	7273	broad.mit.edu	37	2	179598097	179598097	+	Missense_Mutation	SNP	C	C	T	rs146847928	byFrequency	TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr2:179598097C>T	ENST00000591111.1	-	52	15196	c.14972G>A	c.(14971-14973)cGa>cAa	p.R4991Q	TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R5308Q|TTN_ENST00000342992.6_Missense_Mutation_p.R4064Q|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12370	Ig-like 30.				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)			AAAACTTATTCGGTATTTTTT	0.473													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18199	0.0		0.0	False		,,,				2504	0.0					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.(12190-12192)CGA>CAA		titin isoform N2-A							94.0	93.0	93.0					2																	179598097		1840	4098	5938	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179598097C>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.14972G>A	2.37:g.179598097C>T	ENSP00000465570:p.Arg4991Gln					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R725Q	p.R4064Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		51	12415	-			4991					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.12191G>A		3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	15.20	2.763960	0.49574	.	.	ENSG00000155657	ENST00000342992	T	0.66995	-0.24	5.86	5.86	0.93980	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58623	0.2135	N	0.11789	0.175	0.80722	D	1	D	0.63880	0.993	P	0.56216	0.794	T	0.70339	-0.4899	9	0.87932	D	0	.	20.1876	0.98223	0.0:1.0:0.0:0.0	.	4991	Q8WZ42	TITIN_HUMAN	Q	4064	ENSP00000343764:R4064Q	ENSP00000343764:R4064Q	R	-	2	0	TTN	179306342	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	6.020000	0.70826	2.765000	0.95021	0.655000	0.94253	CGA		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		28	89	0	0	0	0	28	89				
BPIFB1	92747	broad.mit.edu	37	20	31890213	31890213	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr20:31890213G>A	ENST00000253354.1	+	10	1137	c.976G>A	c.(976-978)Gaa>Aaa	p.E326K	BPIFB1_ENST00000464032.1_3'UTR	NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	326					innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										GCTGATCAATGAAAAGGTTGG	0.547																																						uc002wyw.1		NA																	0				central_nervous_system(2)|skin(2)	4						c.(976-978)GAA>AAA		LPLUNC1 protein precursor							319.0	266.0	284.0					20																	31890213		2203	4300	6503	SO:0001583	missense	92747					extracellular space	lipid binding	g.chr20:31890213G>A	BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999		"""BPI fold containing"""	16108	protein-coding gene	gene with protein product	"""von Ebner minor salivary gland protein"""		"""chromosome 20 open reading frame 114"""	C20orf114		11971875, 21787333	Standard	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.976G>A	20.37:g.31890213G>A	ENSP00000253354:p.Glu326Lys					C20orf114_uc002wyx.1_5'Flank	p.E326K	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN			10	1137	+			326					A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Missense_Mutation	SNP	ENST00000253354.1	37	c.976G>A	CCDS13218.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495756	0.26774	.	.	ENSG00000125999	ENST00000253354;ENST00000375378	T	0.06608	3.28	4.4	1.14	0.20703	.	0.653206	0.13990	N	0.348882	T	0.06872	0.0175	L	0.60455	1.87	0.09310	N	1	B	0.17465	0.022	B	0.14023	0.01	T	0.29701	-1.0003	10	0.59425	D	0.04	-3.3065	4.1213	0.10106	0.2078:0.1962:0.596:0.0	.	326	Q8TDL5	BPIB1_HUMAN	K	326;157	ENSP00000253354:E326K	ENSP00000253354:E326K	E	+	1	0	BPIFB1	31353874	0.001000	0.12720	0.002000	0.10522	0.014000	0.08584	0.738000	0.26158	0.592000	0.29728	0.462000	0.41574	GAA		0.547	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106499.2	NM_033197		12	58	0	0	0	0	12	58				
APOL5	80831	broad.mit.edu	37	22	36122860	36122860	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr22:36122860G>A	ENST00000249044.2	+	3	745	c.745G>A	c.(745-747)Gcc>Acc	p.A249T		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	249					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						CTACCAGATGGCCAAATCCAA	0.483																																						uc003aof.2		NA																	0					0						c.(745-747)GCC>ACC		apolipoprotein L5							152.0	160.0	158.0					22																	36122860		2203	4300	6503	SO:0001583	missense	80831				lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding	g.chr22:36122860G>A	AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"""Apolipoproteins"""	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.745G>A	22.37:g.36122860G>A	ENSP00000249044:p.Ala249Thr						p.A249T	NM_030642	NP_085145	Q9BWW9	APOL5_HUMAN			3	745	+			249					Q5TFL9|Q9UGW5	Missense_Mutation	SNP	ENST00000249044.2	37	c.745G>A	CCDS13920.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855713	0.51376	.	.	ENSG00000128313	ENST00000249044	T	0.03496	3.91	3.43	2.38	0.29361	.	0.364289	0.22428	U	0.060197	T	0.08447	0.0210	L	0.35341	1.055	0.09310	N	1	D	0.89917	1.0	D	0.72338	0.977	T	0.17715	-1.0360	10	0.38643	T	0.18	.	9.2463	0.37527	0.0:0.0:0.7842:0.2158	.	249	Q9BWW9	APOL5_HUMAN	T	249	ENSP00000249044:A249T	ENSP00000249044:A249T	A	+	1	0	APOL5	34452806	0.006000	0.16342	0.047000	0.18901	0.275000	0.26752	0.435000	0.21510	0.428000	0.26173	0.609000	0.83330	GCC		0.483	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1	NM_030642		4	207	0	0	0	0	4	207				
ENTHD1	150350	broad.mit.edu	37	22	40283603	40283603	+	Silent	SNP	G	G	C			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr22:40283603G>C	ENST00000325157.6	-	2	400	c.150C>G	c.(148-150)ctC>ctG	p.L50L		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	50	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.									breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TAATCTCTGAGAGAGAAATTG	0.423																																						uc003ayg.2		NA																	0				ovary(2)|skin(1)	3						c.(148-150)CTC>CTG		ENTH domain containing 1							138.0	138.0	138.0					22																	40283603		2203	4300	6503	SO:0001819	synonymous_variant	150350							g.chr22:40283603G>C	AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.150C>G	22.37:g.40283603G>C							p.L50L	NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN			2	401	-	Melanoma(58;0.0749)		50			ENTH.		B0QYD5|Q5H9F7|Q96LK3	Silent	SNP	ENST00000325157.6	37	c.150C>G	CCDS13998.1																																																																																				0.423	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512		28	92	0	0	0	0	28	92				
EP300	2033	broad.mit.edu	37	22	41565529	41565529	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr22:41565529G>A	ENST00000263253.7	+	26	5414	c.4195G>A	c.(4195-4197)Gat>Aat	p.D1399N	RP1-85F18.6_ENST00000415054.1_RNA|RNU6-375P_ENST00000517050.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1399	Acetyl-CoA binding. {ECO:0000269|PubMed:24819397}.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with histone. {ECO:0000269|PubMed:18273021}.				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)	p.D1399N(5)|p.D1399Y(2)		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						ATCTTACCTCGATAGTGTTCA	0.338			"""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		7	Substitution - Missense(7)	p.D1399Y(1)	lung(3)|upper_aerodigestive_tract(1)|stomach(1)|central_nervous_system(1)|cervix(1)	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.(4195-4197)GAT>AAT		E1A binding protein p300							98.0	93.0	95.0					22																	41565529		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.chr22:41565529G>A	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.4195G>A	22.37:g.41565529G>A	ENSP00000263253:p.Asp1399Asn						p.D1399N	NM_001429	NP_001420	Q09472	EP300_HUMAN			26	4590	+			1399	D->Y: Does not interact with TFAP2A and inhibits transcriptional coactivation of TFAP2A by CITED2. Does not inhibit interaction with CITED2, DNA-binding of TFAP2A or nuclear localization of TFAP2A or CITED2.				B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.4195G>A	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.998529	0.93227	.	.	ENSG00000100393	ENST00000263253	D	0.99422	-5.88	5.55	5.55	0.83447	.	0.000000	0.46758	D	0.000275	D	0.99743	0.9898	H	0.96633	3.855	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.97288	0.9922	10	0.87932	D	0	-10.979	19.5071	0.95124	0.0:0.0:1.0:0.0	.	1399	Q09472	EP300_HUMAN	N	1399	ENSP00000263253:D1399N	ENSP00000263253:D1399N	D	+	1	0	EP300	39895475	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	9.760000	0.98935	2.617000	0.88574	0.557000	0.71058	GAT		0.338	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		21	77	0	0	0	0	21	77				
PFN2	5217	broad.mit.edu	37	3	149684321	149684321	+	Silent	SNP	C	C	T			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr3:149684321C>T	ENST00000239940.7	-	3	630	c.378G>A	c.(376-378)aaG>aaA	p.K126K	PFN2_ENST00000423691.2_Intron|PFN2_ENST00000481275.1_Silent_p.K77K|PFN2_ENST00000494827.1_Intron|PFN2_ENST00000497148.1_Silent_p.K77K|PFN2_ENST00000498307.1_Silent_p.K77K|PFN2_ENST00000475518.1_Silent_p.K77K|PFN2_ENST00000452853.2_Intron|PFN2_ENST00000489155.1_Silent_p.K77K|PFN2_ENST00000481767.1_Intron|PFN2_ENST00000490975.1_Silent_p.K111K			P35080	PROF2_HUMAN	profilin 2	126					actin cytoskeleton organization (GO:0030036)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of ATPase activity (GO:0032781)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|regulation of synaptic vesicle exocytosis (GO:2000300)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|terminal bouton (GO:0043195)	actin monomer binding (GO:0003785)|adenyl-nucleotide exchange factor activity (GO:0000774)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AGTATGCCTTCTTATTCAATC	0.393																																						uc003ext.1		NA																	0					0						c.(376-378)AAG>AAA		profilin 2 isoform a							332.0	347.0	342.0					3																	149684321		2203	4300	6503	SO:0001819	synonymous_variant	5217				actin cytoskeleton organization|regulation of actin polymerization or depolymerization	actin cytoskeleton|cytoplasm	actin binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr3:149684321C>T	L10678	CCDS3148.1, CCDS46934.1	3q25.1	2006-10-16			ENSG00000070087	ENSG00000070087			8882	protein-coding gene	gene with protein product		176590				8975700, 8365484	Standard	NM_002628		Approved		uc003ext.1	P35080	OTTHUMG00000159683	ENST00000239940.7:c.378G>A	3.37:g.149684321C>T						PFN2_uc003exs.1_Intron|PFN2_uc003exu.1_Intron|PFN2_uc011bnu.1_Intron	p.K126K	NM_053024	NP_444252	P35080	PROF2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		3	476	-			126					B2R4C8|D3DNI4|Q4VBQ4|Q8WVF9|Q9HBK2	Silent	SNP	ENST00000239940.7	37	c.378G>A	CCDS3148.1																																																																																				0.393	PFN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356873.2	NM_002628		13	729	0	0	0	0	13	729				
ECT2	1894	broad.mit.edu	37	3	172501696	172501696	+	Silent	SNP	C	C	T			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr3:172501696C>T	ENST00000392692.3	+	16	1901	c.1725C>T	c.(1723-1725)ctC>ctT	p.L575L	ECT2_ENST00000540509.1_Silent_p.L575L|ECT2_ENST00000441497.2_Silent_p.L544L|ECT2_ENST00000417960.1_Silent_p.L543L|ECT2_ENST00000232458.5_Silent_p.L544L|ECT2_ENST00000427830.1_Silent_p.L544L	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	575	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			ATGCTTTTCTCAAGGTAATGT	0.269																																						uc003fii.2		NA																	0				breast(2)|ovary(1)|skin(1)	4						c.(1630-1632)CTC>CTT		epithelial cell transforming sequence 2 oncogene							43.0	48.0	46.0					3																	172501696		2202	4284	6486	SO:0001819	synonymous_variant	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172501696C>T	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.1725C>T	3.37:g.172501696C>T						ECT2_uc010hwv.1_Silent_p.L575L|ECT2_uc003fih.2_Silent_p.L543L|ECT2_uc003fij.1_Silent_p.L544L|ECT2_uc003fik.1_Silent_p.L544L|ECT2_uc003fil.1_Silent_p.L575L	p.L544L	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		15	1770	+	Ovarian(172;0.00197)|Breast(254;0.158)		544			DH.		Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Silent	SNP	ENST00000392692.3	37	c.1632C>T	CCDS58860.1																																																																																				0.269	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		12	156	0	0	0	0	12	156				
SULT1B1	27284	broad.mit.edu	37	4	70615521	70615521	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr4:70615521T>C	ENST00000310613.3	-	4	590	c.293A>G	c.(292-294)gAg>gGg	p.E98G		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	98					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TGGATTCTTCTCCAATTGTTC	0.383																																						uc003hen.2		NA																	0					0						c.(292-294)GAG>GGG		sulfotransferase family, cytosolic, 1B, member							131.0	135.0	134.0					4																	70615521		2203	4300	6503	SO:0001583	missense	27284				3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		g.chr4:70615521T>C	D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"""Sulfotransferases, cytosolic"""	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.293A>G	4.37:g.70615521T>C	ENSP00000308770:p.Glu98Gly						p.E98G	NM_014465	NP_055280	O43704	ST1B1_HUMAN			4	591	-			98					O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP	ENST00000310613.3	37	c.293A>G	CCDS3530.1	.	.	.	.	.	.	.	.	.	.	T	10.66	1.414007	0.25465	.	.	ENSG00000173597	ENST00000310613;ENST00000510821	D;D	0.82803	-1.65;-1.65	4.69	3.51	0.40186	Sulfotransferase domain (1);	0.355876	0.23710	N	0.045328	T	0.81833	0.4906	M	0.82517	2.595	0.09310	N	1	B	0.17268	0.021	B	0.15052	0.012	T	0.72717	-0.4209	10	0.46703	T	0.11	.	8.4609	0.32927	0.0:0.0948:0.0:0.9052	.	98	O43704	ST1B1_HUMAN	G	98	ENSP00000308770:E98G;ENSP00000425464:E98G	ENSP00000308770:E98G	E	-	2	0	SULT1B1	70650110	0.003000	0.15002	0.002000	0.10522	0.171000	0.22731	0.326000	0.19646	0.779000	0.33543	0.377000	0.23210	GAG		0.383	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465		17	72	0	0	0	0	17	72				
HIST1H4D	8360	broad.mit.edu	37	6	26189157	26189157	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr6:26189157G>A	ENST00000340756.2	-	1	147	c.148C>T	c.(148-150)Ctc>Ttc	p.L50F		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	50					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	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)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				TCATAAATGAGGCCAGAAATA	0.542																																						uc003ngu.2		NA																	0					0						c.(148-150)CTC>TTC		histone cluster 1, H4d							56.0	57.0	57.0					6																	26189157		2203	4300	6503	SO:0001583	missense	8360				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26189157G>A	X60482	CCDS4589.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000188987	ENSG00000277157		"""Histones / Replication-dependent"""	4782	protein-coding gene	gene with protein product		602823	"""H4 histone family, member B"", ""histone 1, H4d"""	H4FB		9119399, 12408966	Standard	NM_003539		Approved	H4/b	uc003ngu.3	P62805	OTTHUMG00000014423	ENST00000340756.2:c.148C>T	6.37:g.26189157G>A	ENSP00000343282:p.Leu50Phe						p.L50F	NM_003539	NP_003530	P62805	H4_HUMAN			1	148	-		all_hematologic(11;0.196)	50					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000340756.2	37	c.148C>T	CCDS4589.1	.	.	.	.	.	.	.	.	.	.	.	14.16	2.451812	0.43531	.	.	ENSG00000188987	ENST00000340756	T	0.67865	-0.29	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.75347	0.3837	.	.	.	0.38630	D	0.95135	.	.	.	.	.	.	T	0.78122	-0.2327	7	0.59425	D	0.04	.	17.9848	0.89153	0.0:0.0:1.0:0.0	.	.	.	.	F	50	ENSP00000343282:L50F	ENSP00000343282:L50F	L	-	1	0	HIST1H4D	26297136	1.000000	0.71417	0.902000	0.35471	0.004000	0.04260	5.211000	0.65219	2.494000	0.84150	0.650000	0.86243	CTC		0.542	HIST1H4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040085.1	NM_003539		23	60	0	0	0	0	23	60				
TRDN	10345	broad.mit.edu	37	6	123869615	123869615	+	Silent	SNP	G	G	A	rs377440434	byFrequency	TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr6:123869615G>A	ENST00000398178.3	-	3	396	c.375C>T	c.(373-375)gaC>gaT	p.D125D	TRDN_ENST00000546248.1_Silent_p.D125D|TRDN_ENST00000334268.4_Silent_p.D125D|TRDN_ENST00000542443.1_Silent_p.D125D	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	125					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		CAGTATCTTCGTCACCATCAT	0.363													G|||	2	0.000399361	0.0	0.0	5008	,	,		16007	0.0		0.001	False		,,,				2504	0.001					uc003pzj.1		NA																	0				ovary(1)	1						c.(373-375)GAC>GAT		triadin		G		0,3760		0,0,1880	63.0	60.0	61.0		375	-8.4	0.0	6		61	2,8216		0,2,4107	no	coding-synonymous	TRDN	NM_006073.2		0,2,5987	AA,AG,GG		0.0243,0.0,0.0167		125/730	123869615	2,11976	1880	4109	5989	SO:0001819	synonymous_variant	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123869615G>A	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.375C>T	6.37:g.123869615G>A						TRDN_uc003pzk.1_Silent_p.D125D|TRDN_uc003pzl.1_Silent_p.D125D|TRDN_uc010ken.2_Silent_p.D125D|TRDN_uc010keo.1_Silent_p.D125D	p.D125D	NM_006073	NP_006064	Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	3	397	-			125			Lumenal.		A5D6W5|F5H2W7|Q6NSB8	Silent	SNP	ENST00000398178.3	37	c.375C>T	CCDS55053.1																																																																																				0.363	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				4	13	0	0	0	0	4	13				
LFNG	3955	broad.mit.edu	37	7	2565945	2565945	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr7:2565945G>A	ENST00000222725.5	+	6	909	c.889G>A	c.(889-891)Gtg>Atg	p.V297M	LFNG_ENST00000402506.1_Missense_Mutation_p.V226M|MIR4648_ENST00000580107.1_RNA|LFNG_ENST00000359574.3_Missense_Mutation_p.V297M|LFNG_ENST00000338732.3_Missense_Mutation_p.V168M|LFNG_ENST00000402045.1_Missense_Mutation_p.V168M	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	297				V -> M (in Ref. 1; BAG53248). {ECO:0000305}.	compartment pattern specification (GO:0007386)|female meiotic division (GO:0007143)|metabolic process (GO:0008152)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|ovarian follicle development (GO:0001541)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)|regulation of Notch signaling pathway (GO:0008593)|regulation of somitogenesis (GO:0014807)|somitogenesis (GO:0001756)	extracellular region (GO:0005576)|integral component of Golgi membrane (GO:0030173)|vesicle (GO:0031982)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		CGGCTACATCGTGGAGGCCCT	0.657																																						uc003smf.2		NA																	0					0						c.(889-891)GTG>ATG		lunatic fringe isoform a							63.0	70.0	68.0					7																	2565945		2202	4299	6501	SO:0001583	missense	3955				organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr7:2565945G>A	BC014851	CCDS34586.1, CCDS34587.1, CCDS55081.1, CCDS55082.1	7p22.3	2013-02-19	2006-11-13		ENSG00000106003	ENSG00000106003	2.4.1.222	"""Beta 3-glycosyltransferases"""	6560	protein-coding gene	gene with protein product		602576	"""lunatic fringe (Drosophila) homolog"", ""lunatic fringe homolog (Drosophila)"""			9878264, 9187150	Standard	NM_001166355		Approved	SCDO3	uc003smf.3	Q8NES3	OTTHUMG00000152043	ENST00000222725.5:c.889G>A	7.37:g.2565945G>A	ENSP00000222725:p.Val297Met					LFNG_uc003smg.2_Missense_Mutation_p.V297M	p.V297M	NM_001040167	NP_001035257	Q8NES3	LFNG_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)	6	906	+		Ovarian(82;0.0112)	297			Lumenal (Potential).		B3KTY6|B5MCR5|O00589|Q96C39|Q9UJW5	Missense_Mutation	SNP	ENST00000222725.5	37	c.889G>A	CCDS34587.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681450	0.68042	.	.	ENSG00000106003	ENST00000402506;ENST00000402045;ENST00000338732;ENST00000222725;ENST00000359574	T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35	4.7	2.58	0.30949	.	0.113351	0.64402	D	0.000017	T	0.71195	0.3311	L	0.50333	1.59	0.45330	D	0.998323	D;D	0.89917	0.997;1.0	D;D	0.75484	0.967;0.986	T	0.70432	-0.4873	10	0.87932	D	0	-3.5152	4.1313	0.10151	0.5619:0.0:0.4381:0.0	.	297;297	Q8NES3-3;Q8NES3	.;LFNG_HUMAN	M	226;168;168;297;297	ENSP00000385764:V226M;ENSP00000384786:V168M;ENSP00000343095:V168M;ENSP00000222725:V297M;ENSP00000352579:V297M	ENSP00000222725:V297M	V	+	1	0	LFNG	2532471	1.000000	0.71417	0.999000	0.59377	0.838000	0.47535	5.001000	0.63946	0.962000	0.38057	0.561000	0.74099	GTG		0.657	LFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325021.1	NM_002304		20	65	0	0	0	0	20	65				
ADCY1	107	broad.mit.edu	37	7	45743232	45743232	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr7:45743232G>A	ENST00000297323.7	+	16	2627	c.2605G>A	c.(2605-2607)Gtc>Atc	p.V869I		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	869					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCAGGTGGGCGTCATGTTTGC	0.572																																						uc003tne.3		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(2605-2607)GTC>ATC		adenylate cyclase 1	Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						138.0	118.0	125.0					7																	45743232		2203	4300	6503	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45743232G>A	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.2605G>A	7.37:g.45743232G>A	ENSP00000297323:p.Val869Ile						p.V869I	NM_021116	NP_066939	Q08828	ADCY1_HUMAN			16	2623	+			869			Cytoplasmic (Potential).		A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.2605G>A	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382803	0.61845	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	T	0.80653	-1.4	4.34	4.34	0.51931	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.84777	0.5547	L	0.48362	1.52	0.58432	D	0.999996	D	0.76494	0.999	D	0.65010	0.931	D	0.85192	0.1010	10	0.49607	T	0.09	.	14.7103	0.69225	0.0:0.0:1.0:0.0	.	869	Q08828	ADCY1_HUMAN	I	869	ENSP00000297323:V869I	ENSP00000297323:V869I	V	+	1	0	ADCY1	45709757	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	9.053000	0.93860	2.393000	0.81446	0.305000	0.20034	GTC		0.572	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		17	66	0	0	0	0	17	66				
CYP51A1	1595	broad.mit.edu	37	7	91758200	91758200	+	Silent	SNP	A	A	G			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr7:91758200A>G	ENST00000003100.8	-	3	627	c.462T>C	c.(460-462)ccT>ccC	p.P154P	LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Silent_p.P49P	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	148					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via 24,25-dihydrolanosterol (GO:0033488)|demethylation (GO:0070988)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|sterol 14-demethylase activity (GO:0008398)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Itraconazole(DB01167)|Ketoconazole(DB01026)|Sertaconazole(DB01153)|Tioconazole(DB01007)	CTACTGGATTAGGCACATCGT	0.373																																					GBM(70;1100 1190 11592 25836 51397)	uc003ulm.3		NA																	0					0						c.(460-462)CCT>CCC		cytochrome P450, family 51, subfamily A,	Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)						185.0	169.0	174.0					7																	91758200		2203	4300	6503	SO:0001819	synonymous_variant	1595				cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity	g.chr7:91758200A>G	U51685	CCDS5623.1, CCDS55123.1	7q21.2	2012-10-10	2003-02-14	2003-02-28	ENSG00000001630	ENSG00000001630		"""Cytochrome P450s"""	2649	protein-coding gene	gene with protein product		601637	"""cytochrome P450, 51 (lanosterol 14-alpha-demethylase)"""	CYP51		8975714	Standard	NM_000786		Approved	CP51, CYPL1, P450L1, LDM, P450-14DM	uc003ulm.4	Q16850	OTTHUMG00000131131	ENST00000003100.8:c.462T>C	7.37:g.91758200A>G						CYP51A1_uc011khn.1_Silent_p.P49P|CYP51A1_uc003uln.3_Silent_p.P91P	p.P154P	NM_000786	NP_000777	Q16850	CP51A_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		3	624	-	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		148					A4D1F8|B2RAI4|B4DJ55|O00770|O00772|Q16784|Q8N1A8|Q99868	Silent	SNP	ENST00000003100.8	37	c.462T>C	CCDS5623.1																																																																																				0.373	CYP51A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253812.4			3	184	0	0	0	0	3	184				
KMT2E	55904	broad.mit.edu	37	7	104752281	104752281	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr7:104752281C>T	ENST00000311117.3	+	27	4623	c.4078C>T	c.(4078-4080)Cct>Tct	p.P1360S	KMT2E_ENST00000257745.4_Missense_Mutation_p.P1360S|SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000334914.7_Missense_Mutation_p.P415S|KMT2E_ENST00000334877.4_Missense_Mutation_p.P1318S	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1360					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										GCCTGGTTCACCTGGATCTGT	0.378																																						uc003vcm.2		NA																	0				ovary(2)|pancreas(1)	3						c.(4078-4080)CCT>TCT		myeloid/lymphoid or mixed-lineage leukemia 5							93.0	89.0	90.0					7																	104752281		2203	4300	6503	SO:0001583	missense	55904				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding	g.chr7:104752281C>T	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.4078C>T	7.37:g.104752281C>T	ENSP00000312379:p.Pro1360Ser					MLL5_uc010ljc.2_Missense_Mutation_p.P1360S|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.2_Missense_Mutation_p.P94S	p.P1360S	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN			27	4612	+			1360					B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.4078C>T	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644434	0.87859	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000334914	D;D;D;T	0.93712	-3.19;-3.27;-3.19;0.49	4.73	4.73	0.59995	.	0.231970	0.35291	N	0.003304	D	0.93367	0.7885	L	0.29908	0.895	0.80722	D	1	D;B	0.61080	0.989;0.442	P;B	0.58928	0.848;0.146	D	0.93336	0.6705	10	0.41790	T	0.15	.	18.0616	0.89379	0.0:1.0:0.0:0.0	.	1280;1360	F8W6H1;Q8IZD2	.;MLL5_HUMAN	S	1360;1360;1318;1280;1360;415	ENSP00000312379:P1360S;ENSP00000335599:P1318S;ENSP00000257745:P1360S;ENSP00000333986:P415S	ENSP00000257745:P1360S	P	+	1	0	MLL5	104539517	0.998000	0.40836	0.996000	0.52242	0.882000	0.50991	3.481000	0.53179	2.317000	0.78254	0.650000	0.86243	CCT		0.378	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			13	40	0	0	0	0	13	40				
EXOC4	60412	broad.mit.edu	37	7	133689777	133689777	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr7:133689777A>G	ENST00000253861.4	+	16	2490	c.2461A>G	c.(2461-2463)Atc>Gtc	p.I821V	EXOC4_ENST00000545148.1_Missense_Mutation_p.I431V|EXOC4_ENST00000541309.1_Missense_Mutation_p.I109V|EXOC4_ENST00000539845.1_Missense_Mutation_p.I720V	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	821					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)				CAACAAAGATATCAGCGCCAT	0.498																																						uc003vrk.2		NA																	0				ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9						c.(2461-2463)ATC>GTC		SEC8 protein isoform a							136.0	127.0	130.0					7																	133689777		2203	4300	6503	SO:0001583	missense	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133689777A>G	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.2461A>G	7.37:g.133689777A>G	ENSP00000253861:p.Ile821Val					EXOC4_uc011kpo.1_Missense_Mutation_p.I720V|EXOC4_uc003vrl.2_Missense_Mutation_p.I431V|EXOC4_uc011kpp.1_Missense_Mutation_p.I353V|EXOC4_uc011kpq.1_Missense_Mutation_p.I109V	p.I821V	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN			16	2496	+		Esophageal squamous(399;0.129)	821					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	c.2461A>G	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	A	19.69	3.874617	0.72180	.	.	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148;ENST00000541309	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.53786	0.1818	L	0.47716	1.5	0.58432	D	0.999996	B;B;B	0.33637	0.42;0.216;0.272	B;B;B	0.36186	0.219;0.171;0.132	T	0.53063	-0.8491	9	0.35671	T	0.21	.	15.4801	0.75517	1.0:0.0:0.0:0.0	.	353;431;821	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	V	821;440;720;431;109	.	ENSP00000253861:I821V	I	+	1	0	EXOC4	133340317	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.637000	0.91014	2.061000	0.61500	0.402000	0.26972	ATC		0.498	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		3	133	0	0	0	0	3	133				
BRWD3	254065	broad.mit.edu	37	X	79979296	79979296	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chrX:79979296T>C	ENST00000373275.4	-	16	1817	c.1601A>G	c.(1600-1602)cAt>cGt	p.H534R	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	534					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CAAATGTCCATGAGAATCTGT	0.378																																						uc004edt.2		NA																	0				ovary(4)	4						c.(1600-1602)CAT>CGT		bromodomain and WD repeat domain containing 3							92.0	82.0	85.0					X																	79979296		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79979296T>C		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.1601A>G	X.37:g.79979296T>C	ENSP00000362372:p.His534Arg					BRWD3_uc004edo.2_Missense_Mutation_p.H130R|BRWD3_uc004edp.2_Missense_Mutation_p.H363R|BRWD3_uc004edq.2_Missense_Mutation_p.H130R|BRWD3_uc010nmj.1_Missense_Mutation_p.H130R|BRWD3_uc004edr.2_Missense_Mutation_p.H204R|BRWD3_uc004eds.2_Missense_Mutation_p.H130R|BRWD3_uc004edu.2_Missense_Mutation_p.H204R|BRWD3_uc004edv.2_Missense_Mutation_p.H130R|BRWD3_uc004edw.2_Missense_Mutation_p.H130R|BRWD3_uc004edx.2_Missense_Mutation_p.H130R|BRWD3_uc004edy.2_Missense_Mutation_p.H130R|BRWD3_uc004edz.2_Missense_Mutation_p.H204R|BRWD3_uc004eea.2_Missense_Mutation_p.H204R|BRWD3_uc004eeb.2_Missense_Mutation_p.H130R	p.H534R	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			16	1864	-			534			WD 9.		C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.1601A>G	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.020051	0.75275	.	.	ENSG00000165288	ENST00000373275	T	0.17691	2.26	4.5	4.5	0.54988	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.42653	0.1212	M	0.80183	2.485	0.58432	D	0.999995	D	0.76494	0.999	D	0.79784	0.993	T	0.41251	-0.9519	9	.	.	.	-15.8932	13.0987	0.59208	0.0:0.0:0.0:1.0	.	534	Q6RI45	BRWD3_HUMAN	R	534	ENSP00000362372:H534R	.	H	-	2	0	BRWD3	79865952	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.525000	0.81892	1.661000	0.50771	0.350000	0.21858	CAT		0.378	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		13	19	0	0	0	0	13	19				
RAB40AL	282808	broad.mit.edu	37	X	102192947	102192947	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chrX:102192947G>A	ENST00000218249.5	+	1	748	c.701G>A	c.(700-702)aGg>aAg	p.R234K	LL0XNC01-237H1.3_ENST00000413528.1_RNA	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	234					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						CTGAATGCCAGGATGATGCGA	0.587																																						uc004ejs.2		NA																	0				ovary(2)	2						c.(700-702)AGG>AAG		RAB40A, member RAS oncogene family-like							140.0	123.0	129.0					X																	102192947		2203	4297	6500	SO:0001583	missense	282808				protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding	g.chrX:102192947G>A	BC101169	CCDS35353.1	Xq22.2	2008-02-05			ENSG00000102128	ENSG00000102128			25410	protein-coding gene	gene with protein product	"""Ras like GTPase"""	300405					Standard	NM_001031834		Approved	RAR2, RLGP	uc004ejs.3	P0C0E4	OTTHUMG00000022084	ENST00000218249.5:c.701G>A	X.37:g.102192947G>A	ENSP00000218249:p.Arg234Lys						p.R234K	NM_001031834	NP_001027004	P0C0E4	RB40L_HUMAN			1	748	+			234					Q495H3	Missense_Mutation	SNP	ENST00000218249.5	37	c.701G>A	CCDS35353.1	.	.	.	.	.	.	.	.	.	.	.	14.31	2.497244	0.44352	.	.	ENSG00000102128	ENST00000218249	T	0.70516	-0.49	0.819	-0.564	0.11774	.	0.000000	0.48767	U	0.000167	T	0.60869	0.2302	M	0.68952	2.095	0.38059	D	0.936007	B	0.33103	0.397	B	0.37387	0.248	T	0.49781	-0.8903	10	0.13108	T	0.6	.	5.2353	0.15443	0.0:0.0:0.6667:0.3332	.	234	P0C0E4	RB40L_HUMAN	K	234	ENSP00000218249:R234K	ENSP00000218249:R234K	R	+	2	0	RAB40AL	102079603	0.307000	0.24500	0.842000	0.33263	0.894000	0.52154	0.284000	0.18864	-0.248000	0.09583	0.462000	0.41574	AGG		0.587	RAB40AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057679.1	NM_001031834		48	49	0	0	0	0	48	49				
IPO13	9670	broad.mit.edu	37	1	44433110	44433117	+	Frame_Shift_Del	DEL	TTCCCCTC	TTCCCCTC	-			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr1:44433110_44433117delTTCCCCTC	ENST00000372343.3	+	19	3399_3406	c.2737_2744delTTCCCCTC	c.(2737-2745)ttcccctctfs	p.FPS913fs	DPH2_ENST00000396758.2_5'Flank|DPH2_ENST00000412950.2_5'Flank|IPO13_ENST00000372339.3_Frame_Shift_Del_p.FPS131fs|DPH2_ENST00000255108.3_5'Flank	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	913					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GCCACCTGGTTTCCCCTCTGCCCGCCTC	0.615																																						uc001ckx.2		NA																	0				central_nervous_system(1)	1						c.(2737-2745)TTCCCCTCTfs		importin 13																																				SO:0001589	frameshift_variant	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44433110_44433117delTTCCCCTC	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.2737_2744delTTCCCCTC	1.37:g.44433110_44433117delTTCCCCTC	ENSP00000361418:p.Phe913fs					IPO13_uc001cky.2_Frame_Shift_Del_p.F131fs	p.F913fs	NM_014652	NP_055467	O94829	IPO13_HUMAN			19	3532_3539	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	913_915					D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Frame_Shift_Del	DEL	ENST00000372343.3	37	c.2737_2744delTTCCCCTC	CCDS503.1																																																																																				0.615	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		20	55	NA	NA	NA	NA	20	55	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179597035	179597035	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr2:179597035delA	ENST00000591111.1	-	55	15934	c.15710delT	c.(15709-15711)ctgfs	p.L5238fs	TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.L5555fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.L4311fs|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12059	Ig-like 33.				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)			CTTCTTTAACAGCTGTGATGG	0.393																																						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.(12928-12930)CTGfs		titin isoform N2-A							115.0	109.0	111.0					2																	179597035		1897	4135	6032	SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179597035delA	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.15710delT	2.37:g.179597035delA	ENSP00000465570:p.Leu5238fs					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Frame_Shift_Del_p.L971fs	p.L4310fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		54	13153	-			5237					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	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.12929delT																																																																																					0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		38	155	NA	NA	NA	NA	38	155	---	---	---	---
ATR	545	broad.mit.edu	37	3	142274740	142274740	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr3:142274740delT	ENST00000350721.4	-	10	2441	c.2320delA	c.(2320-2322)atafs	p.I774fs	ATR_ENST00000383101.3_Frame_Shift_Del_p.I710fs	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	774					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.I774fs*5(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GGACTAGGTATTTTTTTTTTC	0.328								Other conserved DNA damage response genes																														uc003eux.3		NA																	1	Deletion - Frameshift(1)		breast(1)	lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.(2320-2322)ATAfs	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein							72.0	79.0	77.0					3																	142274740		2203	4300	6503	SO:0001589	frameshift_variant	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142274740delT	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.2320delA	3.37:g.142274740delT	ENSP00000343741:p.Ile774fs						p.I774fs	NM_001184	NP_001175	Q13535	ATR_HUMAN			10	2442	-			774					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Frame_Shift_Del	DEL	ENST00000350721.4	37	c.2320delA	CCDS3124.1																																																																																				0.328	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		9	200	NA	NA	NA	NA	9	200	---	---	---	---
