#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
GPATCH3	63906	broad.mit.edu	37	1	27216255	27216255	+	IGR	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr1:27216255G>A	ENST00000361720.5	-	0	2123				GPN2_ENST00000461282.1_5'Flank|GPN2_ENST00000374135.4_Silent_p.C111C	NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3								nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		CCTGGCCTGGGCAGTCGAAGA	0.662																																						uc001bnd.1		NA																	0					0						c.(331-333)TGC>TGT		ATP binding domain 1 family, member B							61.0	63.0	63.0					1																	27216255		2202	4300	6502	SO:0001628	intergenic_variant	54707						GTP binding	g.chr1:27216255G>A	BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"""G patch domain containing"""	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229		1.37:g.27216255G>A							p.C111C	NM_018066	NP_060536	Q9H9Y4	GPN2_HUMAN			1	615	-			111					Q5JYH2|Q8NDJ2|Q9H9Z3	Silent	SNP	ENST00000361720.5	37	c.333C>T	CCDS290.1																																																																																				0.662	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012181.1	NM_022078		17	88	0	0	0	0	17	88				
NBPF10	100132406	broad.mit.edu	37	1	145365392	145365392	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr1:145365392C>G	ENST00000342960.5	+	80	10052	c.10017C>G	c.(10015-10017)tgC>tgG	p.C3339W	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	653						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GTGACTCATGCCAGCCCTACA	0.478																																						uc001end.3		NA																	0					0						c.(10240-10242)TGC>TGG		hypothetical protein LOC100132406																																				SO:0001583	missense	100132406							g.chr1:145365392C>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10017C>G	1.37:g.145365392C>G	ENSP00000345684:p.Cys3339Trp					NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron	p.C3414W	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	82	10277	+	all_hematologic(923;0.032)		3339					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10242C>G	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	5.380	0.255338	0.10185	.	.	ENSG00000163386	ENST00000342960	T	0.07216	3.21	0.74	-1.48	0.08745	.	.	.	.	.	T	0.02494	0.0076	L	0.39245	1.2	0.09310	N	1	.	.	.	.	.	.	T	0.42682	-0.9437	7	0.49607	T	0.09	.	4.0691	0.09874	0.0:0.4837:0.0:0.5163	.	.	.	.	W	3339	ENSP00000345684:C3339W	ENSP00000345684:C3339W	C	+	3	2	NBPF10	144076749	0.003000	0.15002	0.000000	0.03702	0.072000	0.16883	-0.400000	0.07241	-0.718000	0.04949	0.152000	0.16155	TGC		0.478	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		13	89	0	0	0	0	13	89				
CD247	919	broad.mit.edu	37	1	167409931	167409931	+	Silent	SNP	G	G	C			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr1:167409931G>C	ENST00000362089.5	-	2	204	c.132C>G	c.(130-132)gtC>gtG	p.V44V	CD247_ENST00000483825.1_5'UTR|CD247_ENST00000392122.3_Silent_p.V44V			P20963	CD3Z_HUMAN	CD247 molecule	44					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	alpha-beta T cell receptor complex (GO:0042105)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)		Muromonab(DB00075)	CAGTGAGAATGACACCATAGA	0.557																																					Ovarian(192;1815 2869 36877 43334)	uc001gei.3		NA																	0					0						c.(130-132)GTC>GTG		T-cell receptor zeta chain isoform 1 precursor							123.0	102.0	109.0					1																	167409931		2203	4300	6503	SO:0001819	synonymous_variant	919				interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity	g.chr1:167409931G>C	BC025703	CCDS1260.1, CCDS1261.1	1q24.2	2014-09-17	2006-03-28	2006-03-09	ENSG00000198821	ENSG00000198821		"""CD molecules"""	1677	protein-coding gene	gene with protein product		186780	"""CD3z antigen, zeta polypeptide (TiT3 complex)"", ""CD247 antigen"""	CD3Z		2974162	Standard	NM_198053		Approved	CD3H, CD3Q	uc001gei.4	P20963	OTTHUMG00000034593	ENST00000362089.5:c.132C>G	1.37:g.167409931G>C						CD247_uc001gej.3_Silent_p.V44V|CD247_uc001gek.2_Silent_p.V44V	p.V44V	NM_198053	NP_932170	P20963	CD3Z_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.236)		2	277	-			44			Helical; (Potential).		B1AK49|Q5VX13|Q8TAX4	Silent	SNP	ENST00000362089.5	37	c.132C>G	CCDS1261.1																																																																																				0.557	CD247-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083707.1	NM_198053		6	40	0	0	0	0	6	40				
OR14C36	127066	broad.mit.edu	37	1	248513012	248513012	+	Silent	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr1:248513012G>A	ENST00000317861.1	+	1	936	c.936G>A	c.(934-936)gtG>gtA	p.V312V		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	312						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CAGAAAATGTGTAAGAAACCC	0.333																																						uc010pzl.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(934-936)GTG>GTA		olfactory receptor, family 14, subfamily C,							44.0	56.0	52.0					1																	248513012		1930	3734	5664	SO:0001819	synonymous_variant	127066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248513012G>A	BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"""GPCR / Class A : Olfactory receptors"""	15026	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BF, member 1"""	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.936G>A	1.37:g.248513012G>A							p.V312V	NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN			1	936	+			312			Cytoplasmic (Potential).		Q6IEZ6	Silent	SNP	ENST00000317861.1	37	c.936G>A	CCDS31112.1																																																																																				0.333	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	NM_001001918		17	73	0	0	0	0	17	73				
ZMYND11	10771	broad.mit.edu	37	10	294467	294467	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr10:294467G>C	ENST00000397962.3	+	13	1847	c.1419G>C	c.(1417-1419)aaG>aaC	p.K473N	ZMYND11_ENST00000402736.1_Missense_Mutation_p.K442N|ZMYND11_ENST00000381591.1_Missense_Mutation_p.K473N|ZMYND11_ENST00000535374.1_Missense_Mutation_p.K268N|ZMYND11_ENST00000509513.2_Missense_Mutation_p.K472N|ZMYND11_ENST00000558098.2_Missense_Mutation_p.K473N|ZMYND11_ENST00000309776.4_Missense_Mutation_p.K433N|ZMYND11_ENST00000381604.4_Missense_Mutation_p.K433N|ZMYND11_ENST00000381607.4_Missense_Mutation_p.K379N|ZMYND11_ENST00000473115.1_3'UTR|ZMYND11_ENST00000403354.1_Missense_Mutation_p.K393N|ZMYND11_ENST00000602682.1_Missense_Mutation_p.K388N|ZMYND11_ENST00000381602.4_Missense_Mutation_p.K433N|ZMYND11_ENST00000381584.1_Missense_Mutation_p.K456N|ZMYND11_ENST00000397959.3_Missense_Mutation_p.K388N|ZMYND11_ENST00000545619.1_Missense_Mutation_p.K353N			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	473	Interaction with human adenovirus E1A.				cell cycle (GO:0007049)|cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription elongation from RNA polymerase II promoter (GO:0034243)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AATACACCAAGATCTTCAATG	0.512																																						uc010pzt.1		NA																	0					0						c.(1417-1419)AAG>AAC		zinc finger, MYND domain containing 11 isoform							103.0	93.0	96.0					10																	294467		2203	4300	6503	SO:0001583	missense	10771				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:294467G>C	X86098	CCDS7052.1, CCDS7053.1, CCDS7052.2, CCDS55696.1, CCDS55697.1, CCDS7053.2, CCDS73060.1, CCDS73061.1	10p14	2011-01-26	2011-01-26		ENSG00000015171	ENSG00000015171		"""Zinc fingers, MYND-type"""	16966	protein-coding gene	gene with protein product		608668	"""zinc finger, MYND domain containing 11"""			7621829, 10734313	Standard	NM_006624		Approved	BS69	uc010pzx.2	Q15326	OTTHUMG00000017526	ENST00000397962.3:c.1419G>C	10.37:g.294467G>C	ENSP00000381053:p.Lys473Asn					ZMYND11_uc001ifk.2_Missense_Mutation_p.K472N|ZMYND11_uc010pzu.1_Missense_Mutation_p.K473N|ZMYND11_uc010pzv.1_Missense_Mutation_p.K418N|ZMYND11_uc010pzw.1_Missense_Mutation_p.K388N|ZMYND11_uc001ifm.2_Missense_Mutation_p.K419N|ZMYND11_uc010pzx.1_Missense_Mutation_p.K473N|ZMYND11_uc001ifn.2_Missense_Mutation_p.K419N|ZMYND11_uc009xhg.2_Missense_Mutation_p.K456N|ZMYND11_uc009xhh.2_Missense_Mutation_p.K347N|ZMYND11_uc010pzy.1_Missense_Mutation_p.K325N	p.K473N	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	13	1847	+		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	433			Interaction with human adenovirus E1A.		B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Missense_Mutation	SNP	ENST00000397962.3	37	c.1419G>C	CCDS7052.2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133432	0.77662	.	.	ENSG00000015171	ENST00000397962;ENST00000309776;ENST00000381602;ENST00000509513;ENST00000397959;ENST00000381591;ENST00000403354;ENST00000381607;ENST00000402736;ENST00000381604;ENST00000381584;ENST00000545619;ENST00000535374	.	.	.	5.87	0.884	0.19182	.	0.000000	0.85682	D	0.000000	T	0.49898	0.1584	L	0.29908	0.895	0.42605	D	0.993296	D;D;D;D;D;D;D;D;D;D	0.67145	0.996;0.992;0.97;0.979;0.996;0.993;0.991;0.988;0.988;0.991	P;P;P;P;P;D;P;P;P;P	0.72338	0.905;0.835;0.749;0.702;0.905;0.977;0.871;0.815;0.815;0.871	T	0.56577	-0.7956	8	0.36615	T	0.2	-29.6836	9.5778	0.39468	0.6613:0.0:0.3387:0.0	.	433;473;388;418;473;393;402;419;419;442	Q15326;Q2LD45;B7Z293;B7Z2J6;Q2LD48;B0QZE2;B0QZE3;Q2LD46;Q2LD47;E7ENI9	ZMY11_HUMAN;.;.;.;.;.;.;.;.;.	N	473;433;433;473;388;473;393;379;442;433;456;353;268	.	ENSP00000309992:K433N	K	+	3	2	ZMYND11	284467	1.000000	0.71417	0.998000	0.56505	0.877000	0.50540	2.607000	0.46300	-0.027000	0.13873	-0.136000	0.14681	AAG		0.512	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046382.4	NM_006624		16	67	0	0	0	0	16	67				
BEND7	222389	broad.mit.edu	37	10	13489310	13489310	+	Missense_Mutation	SNP	G	G	A	rs377375734		TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr10:13489310G>A	ENST00000396900.2	-	8	1189	c.1190C>T	c.(1189-1191)gCg>gTg	p.A397V	BEND7_ENST00000341083.3_Missense_Mutation_p.A346V|BEND7_ENST00000396898.2_Missense_Mutation_p.A410V|BEND7_ENST00000378605.3_Missense_Mutation_p.A358V|BEND7_ENST00000486542.1_5'UTR			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	397						extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						ATCACTGTCCGCGATCTCTGC	0.388																																						uc001imm.2		NA																	0				ovary(1)|breast(1)	2						c.(1036-1038)GCG>GTG		BEN domain containing 7 isoform 1		G	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	185.0	158.0	167.0		1073,1037	4.0	0.6	10		167	0,8600		0,0,4300	no	missense,missense	BEND7	NM_001100912.1,NM_152751.2	64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	358/375,346/469	13489310	1,13005	2203	4300	6503	SO:0001583	missense	222389						protein binding	g.chr10:13489310G>A	BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"""BEN domain containing"""	23514	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 30"""	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.1190C>T	10.37:g.13489310G>A	ENSP00000380108:p.Ala397Val					BEND7_uc001iml.2_RNA|BEND7_uc001imn.2_Missense_Mutation_p.A106V|BEND7_uc001imo.3_Missense_Mutation_p.A358V	p.A346V	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN			8	1334	-			397					Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Missense_Mutation	SNP	ENST00000396900.2	37	c.1037C>T		.	.	.	.	.	.	.	.	.	.	G	8.990	0.977518	0.18812	2.27E-4	0.0	ENSG00000165626	ENST00000396900;ENST00000341083;ENST00000440282;ENST00000396898;ENST00000378605	T;T;T;T;T	0.53423	0.62;0.79;0.78;0.71;0.72	5.82	3.99	0.46301	.	0.262602	0.34002	N	0.004347	T	0.23846	0.0577	N	0.08118	0	0.25458	N	0.987945	B;B;B	0.31640	0.021;0.152;0.333	B;B;B	0.22880	0.002;0.003;0.042	T	0.09885	-1.0654	10	0.30854	T	0.27	-4.0131	10.4416	0.44469	0.1494:0.0:0.8506:0.0	.	410;397;346	E5RFC0;Q8N7W2;Q8N7W2-3	.;BEND7_HUMAN;.	V	397;346;101;410;358	ENSP00000380108:A397V;ENSP00000345773:A346V;ENSP00000401256:A101V;ENSP00000380107:A410V;ENSP00000367868:A358V	ENSP00000345773:A346V	A	-	2	0	BEND7	13529316	0.996000	0.38824	0.556000	0.28293	0.001000	0.01503	1.816000	0.38992	0.828000	0.34709	-0.123000	0.14984	GCG		0.388	BEND7-202	KNOWN	basic	protein_coding	protein_coding		NM_152751		13	63	0	0	0	0	13	63				
SLC18A3	6572	broad.mit.edu	37	10	50820226	50820226	+	Silent	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr10:50820226C>T	ENST00000374115.3	+	1	1880	c.1440C>T	c.(1438-1440)tcC>tcT	p.S480S	CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000395559.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	480					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCTCCCGTTCCGAGCGCGATG	0.657																																						uc001jhw.2		NA																	0				ovary(2)	2						c.(1438-1440)TCC>TCT		vesicular acetylcholine transporter							63.0	52.0	56.0					10																	50820226		2203	4300	6503	SO:0001819	synonymous_variant	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50820226C>T	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.1440C>T	10.37:g.50820226C>T						CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	p.S480S	NM_003055	NP_003046	Q16572	VACHT_HUMAN			1	1880	+			480			Cytoplasmic (Potential).		B2R7S1	Silent	SNP	ENST00000374115.3	37	c.1440C>T	CCDS7231.1																																																																																				0.657	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		13	53	0	0	0	0	13	53				
TET1	80312	broad.mit.edu	37	10	70451332	70451332	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr10:70451332C>A	ENST00000373644.4	+	12	6381	c.6172C>A	c.(6172-6174)Caa>Aaa	p.Q2058K		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	2058					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AAATAAGCCCCAACATGGTTT	0.453																																						uc001jok.3		NA																	0				ovary(5)|lung(2)|prostate(1)|breast(1)	9						c.(6172-6174)CAA>AAA		CXXC finger 6							59.0	61.0	61.0					10																	70451332		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70451332C>A	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.6172C>A	10.37:g.70451332C>A	ENSP00000362748:p.Gln2058Lys						p.Q2058K	NM_030625	NP_085128	Q8NFU7	TET1_HUMAN			12	6677	+			2058					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.6172C>A	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.304263	0.40795	.	.	ENSG00000138336	ENST00000373644	T	0.05199	3.48	5.51	2.08	0.27032	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	1.261940	0.04892	N	0.449835	T	0.02888	0.0086	N	0.04508	-0.205	0.22280	N	0.999237	B	0.24823	0.112	B	0.19148	0.024	T	0.31420	-0.9944	10	0.02654	T	1	.	7.4475	0.27219	0.5634:0.3491:0.0:0.0875	.	2058	Q8NFU7	TET1_HUMAN	K	2058	ENSP00000362748:Q2058K	ENSP00000362748:Q2058K	Q	+	1	0	TET1	70121338	0.999000	0.42202	0.945000	0.38365	0.993000	0.82548	4.250000	0.58772	0.763000	0.33175	0.591000	0.81541	CAA		0.453	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		14	56	1	0	7.93e-07	1.01e-06	14	56				
SIRT3	23410	broad.mit.edu	37	11	224206	224206	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr11:224206G>A	ENST00000382743.4	-	5	943	c.841C>T	c.(841-843)Ccg>Tcg	p.P281S	SIRT3_ENST00000525319.1_Missense_Mutation_p.P200S|SIRT3_ENST00000524564.1_Missense_Mutation_p.P217S|SIRT3_ENST00000529382.1_Missense_Mutation_p.P139S|SIRT3_ENST00000528702.1_5'Flank|SIRT3_ENST00000532956.1_Intron	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIR3_HUMAN	sirtuin 3	281	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				aerobic respiration (GO:0009060)|peptidyl-lysine deacetylation (GO:0034983)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)	membrane (GO:0016020)|mitochondrion (GO:0005739)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|zinc ion binding (GO:0008270)			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		GTGCAGACCGGGCAGCGGGGA	0.557																																						uc001lok.3		NA																	0				urinary_tract(1)	1						c.(841-843)CCG>TCG		sirtuin 3 isoform a																																				SO:0001583	missense	23410				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding	g.chr11:224206G>A	AF083108	CCDS7691.1, CCDS53590.1	11p15.5	2010-06-25	2010-06-25		ENSG00000142082	ENSG00000142082			14931	protein-coding gene	gene with protein product		604481	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 3"", ""sirtuin (silent mating type information regulation 2 homolog) 3 (S. cerevisiae)"""			10381378, 18215119	Standard	NM_012239		Approved	SIR2L3	uc001lok.4	Q9NTG7	OTTHUMG00000119074	ENST00000382743.4:c.841C>T	11.37:g.224206G>A	ENSP00000372191:p.Pro281Ser					SIRT3_uc001loj.3_Missense_Mutation_p.P139S|SIRT3_uc010qvm.1_Missense_Mutation_p.P217S|SIRT3_uc010qvn.1_Missense_Mutation_p.P200S|SIRT3_uc010qvo.1_Missense_Mutation_p.P281S|SIRT3_uc010qvp.1_Intron|SIRT3_uc010qvq.1_Missense_Mutation_p.P139S|SIRT3_uc009ybt.1_RNA	p.P281S	NM_012239	NP_036371	Q9NTG7	SIRT3_HUMAN		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)	5	875	-		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	281			Deacetylase sirtuin-type.		B7Z5U6|Q9Y6E8	Missense_Mutation	SNP	ENST00000382743.4	37	c.841C>T	CCDS7691.1	.	.	.	.	.	.	.	.	.	.	G	5.856	0.342099	0.11069	.	.	ENSG00000142082	ENST00000382743;ENST00000525319;ENST00000524564;ENST00000529382	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	4.91	1.96	0.26148	.	0.232106	0.44902	D	0.000414	T	0.13329	0.0323	L	0.35249	1.045	0.09310	N	1	B;B;B;B	0.33022	0.394;0.101;0.069;0.119	B;B;B;B	0.34138	0.176;0.037;0.07;0.07	T	0.17137	-1.0379	10	0.30854	T	0.27	-1.8536	5.116	0.14834	0.2307:0.0:0.6255:0.1438	.	281;200;217;281	B7Z7G4;E9PK80;E9PN58;Q9NTG7	.;.;.;SIRT3_HUMAN	S	281;200;217;139	ENSP00000372191:P281S;ENSP00000435464:P200S;ENSP00000432937:P217S;ENSP00000437216:P139S	ENSP00000372191:P281S	P	-	1	0	SIRT3	214206	0.998000	0.40836	0.357000	0.25798	0.425000	0.31504	1.128000	0.31369	0.206000	0.20587	0.650000	0.86243	CCG		0.557	SIRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239288.3			9	43	0	0	0	0	9	43				
NAV2	89797	broad.mit.edu	37	11	20119140	20119140	+	Silent	SNP	C	C	G			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr11:20119140C>G	ENST00000396087.3	+	34	6306	c.6207C>G	c.(6205-6207)gtC>gtG	p.V2069V	NAV2_ENST00000360655.4_Silent_p.V1946V|NAV2_ENST00000311043.8_Silent_p.V1074V|NAV2_ENST00000533917.1_Silent_p.V1074V|NAV2_ENST00000349880.4_Silent_p.V2010V|NAV2_ENST00000540292.1_Silent_p.V2000V|NAV2_ENST00000396085.1_Silent_p.V2013V|NAV2_ENST00000527559.2_Silent_p.V1998V	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2069					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCATTCATGTCGACCCAGTGA	0.448																																						uc001mpr.3		NA																	0				skin(4)|ovary(1)|pancreas(1)	6						c.(6037-6039)GTC>GTG		neuron navigator 2 isoform 1							76.0	74.0	75.0					11																	20119140		2203	4300	6503	SO:0001819	synonymous_variant	89797					nucleus	ATP binding|helicase activity	g.chr11:20119140C>G	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.6207C>G	11.37:g.20119140C>G						NAV2_uc001mpp.2_Silent_p.V1946V|NAV2_uc009yhx.2_Silent_p.V1074V|NAV2_uc009yhz.2_Silent_p.V655V|NAV2_uc001mpu.2_Silent_p.V448V	p.V2013V	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN			31	6400	+			2069					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	c.6039C>G	CCDS58126.1																																																																																				0.448	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		11	65	0	0	0	0	11	65				
LRP6	4040	broad.mit.edu	37	12	12303861	12303861	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr12:12303861C>T	ENST00000261349.4	-	13	2979	c.2903G>A	c.(2902-2904)cGg>cAg	p.R968Q	LRP6_ENST00000543091.1_Missense_Mutation_p.R968Q	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	968	Beta-propeller 4.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R968L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GTCAATGGCCCGGACATTCCG	0.493																																						uc001rah.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12						c.(2902-2904)CGG>CAG		low density lipoprotein receptor-related protein							191.0	170.0	177.0					12																	12303861		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12303861C>T	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.2903G>A	12.37:g.12303861C>T	ENSP00000261349:p.Arg968Gln					BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.R968Q	p.R968Q	NM_002336	NP_002327	O75581	LRP6_HUMAN			13	3045	-		Prostate(47;0.0865)	968			Extracellular (Potential).|Beta-propeller 4.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.2903G>A	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	C	36	5.742261	0.96873	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.91521	-2.86;-2.86	5.35	5.35	0.76521	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.51477	U	0.000097	D	0.91379	0.7280	L	0.31664	0.95	0.80722	D	1	D;D	0.76494	0.999;0.985	D;B	0.67231	0.95;0.197	D	0.87855	0.2660	10	0.12103	T	0.63	.	19.0573	0.93070	0.0:1.0:0.0:0.0	.	968;968	F5H7J9;O75581	.;LRP6_HUMAN	Q	968	ENSP00000261349:R968Q;ENSP00000442472:R968Q	ENSP00000261349:R968Q	R	-	2	0	LRP6	12195128	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.806000	0.55583	2.483000	0.83821	0.585000	0.79938	CGG		0.493	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			46	104	0	0	0	0	46	104				
LRRK2	120892	broad.mit.edu	37	12	40716168	40716168	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr12:40716168G>C	ENST00000298910.7	+	37	5423	c.5365G>C	c.(5365-5367)Gaa>Caa	p.E1789Q		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1789					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTCTCTCATGGAAGAATGGTT	0.403																																						uc001rmg.3		NA																	0				ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(5365-5367)GAA>CAA		leucine-rich repeat kinase 2							245.0	232.0	236.0					12																	40716168		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40716168G>C	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.5365G>C	12.37:g.40716168G>C	ENSP00000298910:p.Glu1789Gln					LRRK2_uc009zjw.2_Missense_Mutation_p.E627Q|LRRK2_uc001rmi.2_Missense_Mutation_p.E622Q	p.E1789Q	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			37	5486	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1789					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.5365G>C	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.913295	0.92178	.	.	ENSG00000188906	ENST00000298910	T	0.73152	-0.72	5.58	5.58	0.84498	.	0.170320	0.51477	D	0.000081	T	0.82148	0.4974	L	0.58101	1.795	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.67548	0.952;0.926	T	0.82952	-0.0202	10	0.66056	D	0.02	.	19.5666	0.95395	0.0:0.0:1.0:0.0	.	1789;1789	Q17RV3;Q5S007	.;LRRK2_HUMAN	Q	1789	ENSP00000298910:E1789Q	ENSP00000298910:E1789Q	E	+	1	0	LRRK2	39002435	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.122000	0.94380	2.602000	0.87976	0.650000	0.86243	GAA		0.403	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		30	171	0	0	0	0	30	171				
KRT83	3889	broad.mit.edu	37	12	52714887	52714887	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr12:52714887G>T	ENST00000293670.3	-	1	295	c.233C>A	c.(232-234)cCc>cAc	p.P78H		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	78	Head.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGGGGGGCTGGGTCCGCACAC	0.701																																					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	uc001saf.2		NA																	0				skin(1)	1						c.(232-234)CCC>CAC		keratin 83							73.0	75.0	74.0					12																	52714887		2203	4300	6503	SO:0001583	missense	3889				epidermis development	keratin filament	structural molecule activity	g.chr12:52714887G>T	X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6460	protein-coding gene	gene with protein product	"""hard keratin type II"""	602765	"""keratin, hair, basic, 3"""	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.233C>A	12.37:g.52714887G>T	ENSP00000293670:p.Pro78His						p.P78H	NM_002282	NP_002273	P78385	KRT83_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	296	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		78			Head.		A1A4S9|B2RC21|Q6NT21|Q9NSB3	Missense_Mutation	SNP	ENST00000293670.3	37	c.233C>A	CCDS8823.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220892	0.58560	.	.	ENSG00000170523	ENST00000293670	T	0.77489	-1.1	4.69	2.86	0.33363	.	0.490245	0.15141	U	0.278283	D	0.88332	0.6408	M	0.89601	3.045	0.33255	D	0.559001	D	0.69078	0.997	D	0.66602	0.945	D	0.90018	0.4126	10	0.56958	D	0.05	.	11.3122	0.49370	0.1496:0.0:0.8504:0.0	.	78	P78385	KRT83_HUMAN	H	78	ENSP00000293670:P78H	ENSP00000293670:P78H	P	-	2	0	KRT83	51001154	0.342000	0.24809	0.627000	0.29227	0.829000	0.46940	1.129000	0.31381	0.697000	0.31718	0.650000	0.86243	CCC		0.701	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282		48	116	1	0	4.64e-19	6.47e-19	48	116				
HPD	3242	broad.mit.edu	37	12	122294232	122294232	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr12:122294232G>T	ENST00000289004.4	-	6	357	c.322C>A	c.(322-324)Cag>Aag	p.Q108K	HPD_ENST00000543163.1_Missense_Mutation_p.Q69K|RP11-7M8.2_ENST00000543848.1_RNA	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	108					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	TTTCTTACCTGCACGATGTAG	0.582																																						uc001ubj.2		NA																	0					0						c.(322-324)CAG>AAG		4-hydroxyphenylpyruvate dioxygenase	Nitisinone(DB00348)						247.0	171.0	197.0					12																	122294232		2203	4300	6503	SO:0001583	missense	3242				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	g.chr12:122294232G>T	BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	1.13.11.27		5147	protein-coding gene	gene with protein product	"""glyoxalase domain containing 3"""	609695		PPD			Standard	NM_001171993		Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000289004.4:c.322C>A	12.37:g.122294232G>T	ENSP00000289004:p.Gln108Lys					HPD_uc001ubk.2_Missense_Mutation_p.Q69K	p.Q108K	NM_002150	NP_002141	P32754	HPPD_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	6	362	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		108					A8K461|B3KQ63|Q13234	Missense_Mutation	SNP	ENST00000289004.4	37	c.322C>A	CCDS9224.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880248	0.33162	.	.	ENSG00000158104	ENST00000289004;ENST00000545969;ENST00000543163	T;T	0.62232	0.04;0.04	5.28	5.28	0.74379	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.059207	0.64402	D	0.000002	T	0.40423	0.1116	N	0.04636	-0.2	0.53688	D	0.999978	B	0.02656	0.0	B	0.04013	0.001	T	0.36744	-0.9735	10	0.09084	T	0.74	-37.2429	19.2784	0.94040	0.0:0.0:1.0:0.0	.	108	P32754	HPPD_HUMAN	K	108;105;69	ENSP00000289004:Q108K;ENSP00000441677:Q69K	ENSP00000289004:Q108K	Q	-	1	0	HPD	120778615	1.000000	0.71417	1.000000	0.80357	0.487000	0.33371	4.098000	0.57748	2.630000	0.89119	0.491000	0.48974	CAG		0.582	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402184.1	NM_002150		21	54	1	0	3.6e-14	4.96e-14	21	54				
CGNL1	84952	broad.mit.edu	37	15	57732649	57732649	+	Silent	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr15:57732649C>T	ENST00000281282.5	+	3	1755	c.1677C>T	c.(1675-1677)ctC>ctT	p.L559L		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	559						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGCAGATTCTCTACAATTACC	0.443																																						uc002aeg.2		NA																	0				skin(6)|ovary(4)|central_nervous_system(1)	11						c.(1675-1677)CTC>CTT		cingulin-like 1							74.0	67.0	69.0					15																	57732649		2192	4292	6484	SO:0001819	synonymous_variant	84952					myosin complex|tight junction	motor activity	g.chr15:57732649C>T	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.1677C>T	15.37:g.57732649C>T						CGNL1_uc010bfw.2_Silent_p.L559L	p.L559L	NM_032866	NP_116255	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	3	1753	+			559					Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Silent	SNP	ENST00000281282.5	37	c.1677C>T	CCDS10161.1																																																																																				0.443	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		5	4	0	0	0	0	5	4				
HCN4	10021	broad.mit.edu	37	15	73635796	73635796	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr15:73635796G>A	ENST00000261917.3	-	2	2132	c.1139C>T	c.(1138-1140)aCg>aTg	p.T380M	RP11-272D12.1_ENST00000558742.1_RNA|RP11-272D12.1_ENST00000557981.1_RNA	NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	380					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GAGGATCTTCGTGAAGCGGAC	0.552																																						uc002avp.2		NA																	0				ovary(5)|liver(1)	6						c.(1138-1140)ACG>ATG		hyperpolarization activated cyclic							93.0	73.0	80.0					15																	73635796		2198	4297	6495	SO:0001583	missense	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73635796G>A	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1139C>T	15.37:g.73635796G>A	ENSP00000261917:p.Thr380Met						p.T380M	NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	2	2133	-			380			Helical; Voltage-sensor; Name=Segment S4; (Potential).		Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	c.1139C>T	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.877791	0.91664	.	.	ENSG00000138622	ENST00000261917	D	0.97378	-4.36	5.34	5.34	0.76211	Ion transport (1);	.	.	.	.	D	0.97939	0.9322	L	0.54965	1.715	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.98693	1.0697	9	0.66056	D	0.02	.	19.4036	0.94640	0.0:0.0:1.0:0.0	.	380	Q9Y3Q4	HCN4_HUMAN	M	380	ENSP00000261917:T380M	ENSP00000261917:T380M	T	-	2	0	HCN4	71422849	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.678000	0.98647	2.657000	0.90304	0.655000	0.94253	ACG		0.552	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		7	41	0	0	0	0	7	41				
ADAMTS18	170692	broad.mit.edu	37	16	77465453	77465453	+	Silent	SNP	G	G	A	rs369294701		TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr16:77465453G>A	ENST00000282849.5	-	3	652	c.234C>T	c.(232-234)caC>caT	p.H78H	ADAMTS18_ENST00000567121.1_5'UTR|RP11-449J10.1_ENST00000564358.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	78					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GCAAAATGTCGTGTGAAATAT	0.488																																						uc002ffc.3		NA																	0				large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(232-234)CAC>CAT		ADAM metallopeptidase with thrombospondin type 1		G		0,4396		0,0,2198	199.0	206.0	204.0		234	-0.3	1.0	16		204	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADAMTS18	NM_199355.2		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		78/1222	77465453	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77465453G>A	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.234C>T	16.37:g.77465453G>A						ADAMTS18_uc002ffe.1_Translation_Start_Site|ADAMTS18_uc010vni.1_RNA	p.H78H	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			3	653	-			78					Q6P4R5|Q6ZWJ9	Silent	SNP	ENST00000282849.5	37	c.234C>T	CCDS10926.1																																																																																				0.488	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			52	274	0	0	0	0	52	274				
AIPL1	23746	broad.mit.edu	37	17	6330371	6330371	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr17:6330371C>T	ENST00000381129.3	-	4	552	c.472G>A	c.(472-474)Gcc>Acc	p.A158T	AIPL1_ENST00000571740.1_Intron|AIPL1_ENST00000250087.5_Missense_Mutation_p.A95T|AIPL1_ENST00000576307.1_Missense_Mutation_p.A98T|AIPL1_ENST00000574506.1_Missense_Mutation_p.A146T|AIPL1_ENST00000575265.1_Missense_Mutation_p.A158T|AIPL1_ENST00000576776.1_Missense_Mutation_p.A158T|AIPL1_ENST00000570466.1_Missense_Mutation_p.A136T	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	158					negative regulation of apoptotic process (GO:0043066)|phototransduction, visible light (GO:0007603)|protein farnesylation (GO:0018343)|protein folding (GO:0006457)|regulation of cGMP metabolic process (GO:0030823)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)	farnesylated protein binding (GO:0001918)|unfolded protein binding (GO:0051082)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		TCACTCGGGGCATCAACCTGG	0.602																																						uc002gcp.2		NA																	0					0						c.(472-474)GCC>ACC		aryl hydrocarbon receptor interacting							84.0	79.0	80.0					17																	6330371		2203	4300	6503	SO:0001583	missense	23746				protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding	g.chr17:6330371C>T	AF148864	CCDS11075.1, CCDS32539.1, CCDS32540.1, CCDS67130.1, CCDS67131.1, CCDS67132.1, CCDS67133.1	17p13.1	2013-01-08	2001-11-29		ENSG00000129221	ENSG00000129221			359	protein-coding gene	gene with protein product		604392	"""aryl hydrocarbon receptor-interacting protein-like 1"""	LCA4		10615133, 14555765, 15365173	Standard	NM_001285402		Approved		uc002gcp.3	Q9NZN9	OTTHUMG00000102043	ENST00000381129.3:c.472G>A	17.37:g.6330371C>T	ENSP00000370521:p.Ala158Thr					AIPL1_uc002gcq.2_Missense_Mutation_p.A98T|AIPL1_uc002gcr.2_Missense_Mutation_p.A95T|AIPL1_uc010clk.2_Missense_Mutation_p.A136T|AIPL1_uc010cll.2_Missense_Mutation_p.A158T|AIPL1_uc002gcs.2_Missense_Mutation_p.A158T	p.A158T	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN		COAD - Colon adenocarcinoma(228;0.141)	4	567	-			158					D3DTM4|Q659W3|Q659W4|Q6ZZB6|Q8N6A0|Q9H873|Q9NS10	Missense_Mutation	SNP	ENST00000381129.3	37	c.472G>A	CCDS11075.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.793080	0.31685	.	.	ENSG00000129221	ENST00000381129;ENST00000381128;ENST00000250087;ENST00000444243	D;D	0.88509	-2.39;-2.29	4.71	4.71	0.59529	.	0.473046	0.24120	N	0.041364	D	0.86045	0.5839	L	0.42245	1.32	0.80722	D	1	P;B;P;P;D;B	0.54601	0.773;0.08;0.544;0.766;0.967;0.129	B;B;B;B;P;B	0.48921	0.182;0.017;0.113;0.312;0.595;0.046	T	0.82550	-0.0401	10	0.20519	T	0.43	-25.467	10.7218	0.46044	0.1906:0.8094:0.0:0.0	.	158;136;158;95;98;158	Q659W3;Q659W4;F1T0C4;Q9NZN9-3;Q9NZN9-2;Q9NZN9	.;.;.;.;.;AIPL1_HUMAN	T	158;98;95;158	ENSP00000370521:A158T;ENSP00000250087:A95T	ENSP00000250087:A95T	A	-	1	0	AIPL1	6271095	0.999000	0.42202	1.000000	0.80357	0.846000	0.48090	3.899000	0.56288	2.326000	0.78906	0.491000	0.48974	GCC		0.602	AIPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219828.3	NM_014336		21	82	0	0	0	0	21	82				
POLR2A	5430	broad.mit.edu	37	17	7414779	7414779	+	Missense_Mutation	SNP	G	G	C	rs544635057		TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr17:7414779G>C	ENST00000322644.6	+	24	4372	c.3973G>C	c.(3973-3975)Gat>Cat	p.D1325H		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1325					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)	p.I1322_W1334del(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CATCACGGAGGATGGGGAATT	0.582																																						uc002ghf.3		NA																	1	Deletion - In frame(1)	p.I1322_W1334del(1)	pancreas(1)	pancreas(1)	1						c.(3973-3975)GAT>CAT		DNA-directed RNA polymerase II A							126.0	94.0	104.0					17																	7414779		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7414779G>C			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.3973G>C	17.37:g.7414779G>C	ENSP00000314949:p.Asp1325His						p.D1325H	NM_000937	NP_000928	P24928	RPB1_HUMAN			24	4207	+		Prostate(122;0.173)	1325					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.3973G>C	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457337	0.63401	.	.	ENSG00000181222	ENST00000535204;ENST00000545644;ENST00000322644	T	0.77489	-1.1	4.59	4.59	0.56863	RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	D	0.83899	0.5354	L	0.61387	1.9	0.80722	D	1	P	0.49358	0.923	P	0.56343	0.796	D	0.85180	0.1003	10	0.56958	D	0.05	-16.3765	16.7406	0.85458	0.0:0.0:1.0:0.0	.	1325	P24928	RPB1_HUMAN	H	1281;224;1325	ENSP00000314949:D1325H	ENSP00000314949:D1325H	D	+	1	0	SLC35G6	7355503	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	8.565000	0.90730	2.564000	0.86499	0.449000	0.29647	GAT		0.582	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		4	34	0	0	0	0	4	34				
LHX1	3975	broad.mit.edu	37	17	35299527	35299527	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr17:35299527C>T	ENST00000254457.5	+	4	2117	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	236					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				CTCCAAGGAGCGGAGGATGAA	0.741																																						uc002hnh.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(706-708)CGG>TGG		LIM homeobox protein 1							9.0	12.0	11.0					17																	35299527		2174	4255	6429	SO:0001583	missense	3975				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr17:35299527C>T	U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"""Homeoboxes / LIM class"""	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.706C>T	17.37:g.35299527C>T	ENSP00000254457:p.Arg236Trp						p.R236W	NM_005568	NP_005559	P48742	LHX1_HUMAN			4	1702	+		Breast(25;0.00607)	236			Homeobox.		Q3MIW0	Missense_Mutation	SNP	ENST00000254457.5	37	c.706C>T	CCDS11316.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972936	0.74246	.	.	ENSG00000132130	ENST00000254457	D	0.97665	-4.48	4.41	1.12	0.20585	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.64402	D	0.000001	D	0.98448	0.9483	M	0.92649	3.33	0.80722	D	1	D	0.76494	0.999	D	0.68943	0.961	D	0.98797	1.0738	10	0.87932	D	0	.	12.9208	0.58230	0.5632:0.4368:0.0:0.0	.	236	P48742	LHX1_HUMAN	W	236	ENSP00000254457:R236W	ENSP00000254457:R236W	R	+	1	2	LHX1	32373640	0.041000	0.20044	0.981000	0.43875	0.871000	0.50021	-0.791000	0.04599	0.183000	0.20059	-0.500000	0.04577	CGG		0.741	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256704.3	NM_005568		4	28	0	0	0	0	4	28				
MTCL1	23255	broad.mit.edu	37	18	8783718	8783718	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr18:8783718G>C	ENST00000306329.11	+	5	1688	c.1688G>C	c.(1687-1689)cGg>cCg	p.R563P	SOGA2_ENST00000400050.3_Missense_Mutation_p.R203P|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000517570.1_Missense_Mutation_p.R203P|SOGA2_ENST00000359865.3_Missense_Mutation_p.R203P																							CCCAGCACCCGGGAGGCCGAG	0.642																																						uc002knr.2		NA																	0					0						c.(607-609)CGG>CCG		hypothetical protein LOC23255							12.0	14.0	13.0					18																	8783718		2194	4294	6488	SO:0001583	missense	23255							g.chr18:8783718G>C																												ENST00000306329.11:c.1688G>C	18.37:g.8783718G>C	ENSP00000305027:p.Arg563Pro					KIAA0802_uc002knq.2_Missense_Mutation_p.R203P|KIAA0802_uc010dkw.1_Missense_Mutation_p.R41P	p.R203P	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN			6	750	+			554			Potential.			Missense_Mutation	SNP	ENST00000306329.11	37	c.608G>C		.	.	.	.	.	.	.	.	.	.	G	14.66	2.600956	0.46423	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050	T;T;T	0.17213	2.29;2.32;2.29	5.96	5.96	0.96718	.	0.000000	0.53938	D	0.000047	T	0.49490	0.1560	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.49341	-0.8950	10	0.72032	D	0.01	-36.2148	20.4084	0.99013	0.0:0.0:1.0:0.0	.	224;203	A8MQ54;Q9Y4B5-3	.;.	P	224;203;203;203	ENSP00000429556:R203P;ENSP00000352927:R203P;ENSP00000382924:R203P	ENSP00000305027:R224P	R	+	2	0	CCDC165	8773718	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.833000	0.97629	0.650000	0.86243	CGG		0.642	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			13	19	0	0	0	0	13	19				
NOL4	8715	broad.mit.edu	37	18	31673461	31673461	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr18:31673461T>C	ENST00000261592.5	-	5	1037	c.740A>G	c.(739-741)cAa>cGa	p.Q247R	NOL4_ENST00000269185.4_Missense_Mutation_p.Q133R|NOL4_ENST00000538587.1_Missense_Mutation_p.Q173R|NOL4_ENST00000535475.1_Missense_Mutation_p.Q92R|NOL4_ENST00000589544.1_Missense_Mutation_p.Q247R	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	247						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CTGGGGACTTTGCATTCTTTC	0.383																																						uc010dmi.2		NA																	0				ovary(3)	3						c.(739-741)CAA>CGA		nucleolar protein 4							143.0	138.0	139.0					18																	31673461		2203	4300	6503	SO:0001583	missense	8715					nucleolus	RNA binding	g.chr18:31673461T>C	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.740A>G	18.37:g.31673461T>C	ENSP00000261592:p.Gln247Arg					NOL4_uc002kxr.3_Missense_Mutation_p.Q83R|NOL4_uc010xbt.1_Missense_Mutation_p.Q173R|NOL4_uc010dmh.2_Missense_Mutation_p.Q173R|NOL4_uc010xbu.1_Missense_Mutation_p.Q247R|NOL4_uc002kxt.3_Missense_Mutation_p.Q247R|NOL4_uc010xbw.1_Missense_Mutation_p.Q133R	p.Q247R	NM_003787	NP_003778	O94818	NOL4_HUMAN			5	969	-			247					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	c.740A>G	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	T	6.538	0.467489	0.12402	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000535475;ENST00000538587	.	.	.	5.5	4.31	0.51392	.	0.115488	0.38605	N	0.001636	T	0.51787	0.1695	L	0.27053	0.805	0.39620	D	0.970012	B;B;D;P;P	0.53745	0.007;0.119;0.962;0.908;0.718	B;B;D;P;B	0.66716	0.008;0.061;0.946;0.888;0.199	T	0.50866	-0.8777	9	0.02654	T	1	-5.5991	11.8148	0.52204	0.0:0.0:0.1468:0.8532	.	133;173;247;247;92	B4DLW2;B4DSQ0;O94818;O94818-2;B3KRF4	.;.;NOL4_HUMAN;.;.	R	247;133;92;173	.	ENSP00000261592:Q247R	Q	-	2	0	NOL4	29927459	1.000000	0.71417	0.989000	0.46669	0.966000	0.64601	3.347000	0.52200	0.876000	0.35872	0.402000	0.26972	CAA		0.383	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		12	79	0	0	0	0	12	79				
SERPINB8	5271	broad.mit.edu	37	18	61649018	61649018	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr18:61649018G>C	ENST00000397985.2	+	4	626	c.370G>C	c.(370-372)Gac>Cac	p.D124H	SERPINB8_ENST00000353706.2_Missense_Mutation_p.D124H|SERPINB8_ENST00000542677.1_5'UTR|SERPINB8_ENST00000397988.3_Missense_Mutation_p.D124H	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	124					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				CTTTGCTGAAGACACTGAAGA	0.413																																						uc002ljv.2		NA																	0				skin(1)	1						c.(370-372)GAC>CAC		serine (or cysteine) proteinase inhibitor, clade							194.0	181.0	185.0					18																	61649018		2203	4300	6503	SO:0001583	missense	5271				regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61649018G>C	L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"""Serine (or cysteine) peptidase inhibitors"""	8952	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase 2"""	601697	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"""	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.370G>C	18.37:g.61649018G>C	ENSP00000381072:p.Asp124His					SERPINB8_uc002ljs.1_Missense_Mutation_p.D124H|SERPINB8_uc002ljt.2_Missense_Mutation_p.D124H|SERPINB8_uc002lju.2_Missense_Mutation_p.D124H|SERPINB8_uc010xex.1_5'UTR	p.D124H	NM_198833	NP_942130	P50452	SPB8_HUMAN			4	539	+		Esophageal squamous(42;0.129)	124					B4DTW2|Q7Z2V6|Q8N178	Missense_Mutation	SNP	ENST00000397985.2	37	c.370G>C	CCDS11991.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.13|12.13	1.845707|1.845707	0.32606|0.32606	.|.	.|.	ENSG00000166401|ENSG00000166401	ENST00000397985;ENST00000353706;ENST00000397988;ENST00000448851;ENST00000441827|ENST00000295211	D;D;D;D;D|.	0.84800|.	-1.89;-1.89;-1.89;-1.9;-1.89|.	5.21|5.21	2.35|2.35	0.29111|0.29111	Serpin domain (3);|.	0.699661|.	0.15035|.	N|.	0.284242|.	T|T	0.46054|0.46054	0.1373|0.1373	M|M	0.69185|0.69185	2.1|2.1	0.22050|0.22050	N|N	0.999398|0.999398	P;P|.	0.48230|.	0.907;0.907|.	P;P|.	0.59595|.	0.806;0.86|.	T|T	0.33394|0.33394	-0.9870|-0.9870	9|5	.|.	.|.	.|.	.|.	7.2363|7.2363	0.26072|0.26072	0.3729:0.0:0.6271:0.0|0.3729:0.0:0.6271:0.0	.|.	124;124|.	P50452;Q8N178|.	SPB8_HUMAN;.|.	H|N	124|65	ENSP00000381072:D124H;ENSP00000331368:D124H;ENSP00000381075:D124H;ENSP00000414580:D124H;ENSP00000393456:D124H|.	.|.	D|K	+|+	1|3	0|2	SERPINB8|SERPINB8	59799998|59799998	0.090000|0.090000	0.21635|0.21635	0.002000|0.002000	0.10522|0.10522	0.073000|0.073000	0.16967|0.16967	1.837000|1.837000	0.39201|0.39201	0.309000|0.309000	0.22966|0.22966	0.467000|0.467000	0.42956|0.42956	GAC|AAG		0.413	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134014.1	NM_001031848		42	71	0	0	0	0	42	71				
RFX2	5990	broad.mit.edu	37	19	6040054	6040054	+	Silent	SNP	G	G	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr19:6040054G>T	ENST00000303657.5	-	5	608	c.459C>A	c.(457-459)atC>atA	p.I153I	RFX2_ENST00000359161.3_Silent_p.I153I|RFX2_ENST00000592546.1_Silent_p.I153I	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	153					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TCCCCCCGTGGATGAGATAGG	0.677																																					Colon(38;171 817 19800 47433 48051)	uc002meb.2		NA																	0				breast(4)|ovary(1)|skin(1)	6						c.(457-459)ATC>ATA		regulatory factor X2 isoform a							33.0	21.0	25.0					19																	6040054		2142	4230	6372	SO:0001819	synonymous_variant	5990				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:6040054G>T		CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 2"", ""DNA binding protein RFX2"", ""HLA class II regulatory factor RFX2"""	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.459C>A	19.37:g.6040054G>T						RFX2_uc002mec.2_Silent_p.I153I|RFX2_uc010xiy.1_Silent_p.I108I	p.I153I	NM_000635	NP_000626	P48378	RFX2_HUMAN			5	728	-			153					A8K581|B3KNC4|Q6IQ44|Q8SNA2	Silent	SNP	ENST00000303657.5	37	c.459C>A	CCDS12157.1																																																																																				0.677	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452687.1	NM_000635		3	21	1	0	0.004672	0.0055009	3	21				
ZNF560	147741	broad.mit.edu	37	19	9583928	9583928	+	Missense_Mutation	SNP	C	C	A	rs138007443		TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr19:9583928C>A	ENST00000301480.4	-	5	378	c.165G>T	c.(163-165)caG>caT	p.Q55H		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	55	KRAB 1. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GTTTAAAGAGCTGAAATCCTT	0.458																																						uc002mlp.1		NA																	0				skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6						c.(163-165)CAG>CAT		zinc finger protein 560							149.0	150.0	150.0					19																	9583928		2203	4300	6503	SO:0001583	missense	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9583928C>A	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.165G>T	19.37:g.9583928C>A	ENSP00000301480:p.Gln55His					ZNF560_uc010dwr.1_5'UTR	p.Q55H	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN			5	375	-			55			KRAB 1.		Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	c.165G>T	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	C	9.170	1.020862	0.19433	.	.	ENSG00000198028	ENST00000301480	T	0.00808	5.67	3.05	0.817	0.18773	Krueppel-associated box (3);	.	.	.	.	T	0.01489	0.0048	N	0.25031	0.7	0.09310	N	1	D	0.63046	0.992	P	0.62813	0.907	T	0.54616	-0.8267	9	0.23891	T	0.37	.	4.2158	0.10533	0.0:0.6221:0.2405:0.1375	.	55	Q96MR9	ZN560_HUMAN	H	55	ENSP00000301480:Q55H	ENSP00000301480:Q55H	Q	-	3	2	ZNF560	9444928	0.000000	0.05858	0.002000	0.10522	0.097000	0.18754	-0.492000	0.06467	0.295000	0.22570	0.655000	0.94253	CAG		0.458	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		29	149	1	0	4.23e-11	5.72e-11	29	149				
OR10H5	284433	broad.mit.edu	37	19	15905620	15905620	+	Silent	SNP	C	C	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr19:15905620C>A	ENST00000308940.8	+	1	860	c.762C>A	c.(760-762)ggC>ggA	p.G254G		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						TGCACTATGGCTTTGCCTCCG	0.572																																						uc010xos.1		NA																	0				ovary(1)	1						c.(760-762)GGC>GGA		olfactory receptor, family 10, subfamily H,							92.0	73.0	80.0					19																	15905620		2203	4300	6503	SO:0001819	synonymous_variant	284433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15905620C>A	AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"""GPCR / Class A : Olfactory receptors"""	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.762C>A	19.37:g.15905620C>A							p.G254G	NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN			1	762	+			254			Helical; Name=6; (Potential).		Q6IFJ0|Q96R60	Silent	SNP	ENST00000308940.8	37	c.762C>A	CCDS32940.1																																																																																				0.572	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460363.1			8	46	1	0	0.00829132	0.0096585	8	46				
CPAMD8	27151	broad.mit.edu	37	19	17056415	17056415	+	Missense_Mutation	SNP	C	C	T	rs529234664		TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr19:17056415C>T	ENST00000443236.1	-	22	2909	c.2878G>A	c.(2878-2880)Gcc>Acc	p.A960T		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	913						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CTCCTGTCGGCGTGATTCTCC	0.567													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22889	0.0		0.0	False		,,,				2504	0.0					uc002nfb.2		NA																	0				ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						c.(2878-2880)GCC>ACC		C3 and PZP-like, alpha-2-macroglobulin domain							109.0	116.0	114.0					19																	17056415		2007	4161	6168	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17056415C>T	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.2878G>A	19.37:g.17056415C>T	ENSP00000402505:p.Ala960Thr						p.A960T	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			22	2910	-			913					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.2878G>A	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	C	7.940	0.742594	0.15642	.	.	ENSG00000160111	ENST00000291440	.	.	.	3.49	-5.76	0.02376	.	2.267510	0.02389	N	0.079548	T	0.25531	0.0621	L	0.36672	1.1	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.07501	-1.0769	9	0.23302	T	0.38	.	0.7219	0.00942	0.1779:0.2566:0.1821:0.3835	.	913	Q8IZJ3	CPMD8_HUMAN	T	960	.	ENSP00000291440:A960T	A	-	1	0	CPAMD8	16917415	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.259000	0.01178	-0.738000	0.04817	-0.218000	0.12543	GCC		0.567	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		19	92	0	0	0	0	19	92				
SBSN	374897	broad.mit.edu	37	19	36017775	36017775	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr19:36017775C>T	ENST00000452271.2	-	1	1437	c.1409G>A	c.(1408-1410)gGg>gAg	p.G470E	SBSN_ENST00000518157.1_Missense_Mutation_p.G127E	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	470	Ala/Gly/His-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGCTTCCTTCCCGGCCTGTTC	0.597																																						uc002oae.1		NA																	0				ovary(1)	1						c.(379-381)GGG>GAG		suprabasin isoform 2 precursor							69.0	60.0	63.0					19																	36017775		2203	4300	6503	SO:0001583	missense	374897					extracellular region		g.chr19:36017775C>T	AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.1409G>A	19.37:g.36017775C>T	ENSP00000430242:p.Gly470Glu					SBSN_uc002oad.1_Missense_Mutation_p.G470E	p.G127E	NM_198538	NP_940940	Q6UWP8	SBSN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	450	-	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		127			Ala/Gly/His-rich.		A8K5J0|E9PBV3	Missense_Mutation	SNP	ENST00000452271.2	37	c.380G>A	CCDS54253.1	.	.	.	.	.	.	.	.	.	.	c	5.249	0.231389	0.09969	.	.	ENSG00000189001	ENST00000452271;ENST00000518157	T;T	0.51574	0.7;0.75	4.46	3.39	0.38822	.	0.000000	0.40908	U	0.000982	T	0.61211	0.2329	M	0.75615	2.305	0.09310	N	1	D;D	0.69078	0.99;0.997	P;D	0.64687	0.849;0.928	T	0.53739	-0.8396	10	0.19590	T	0.45	.	10.941	0.47273	0.0:0.9032:0.0:0.0968	.	127;470	Q6UWP8;E9PBV3	SBSN_HUMAN;.	E	470;127	ENSP00000430242:G470E;ENSP00000428771:G127E	ENSP00000430242:G470E	G	-	2	0	SBSN	40709615	0.021000	0.18746	0.010000	0.14722	0.005000	0.04900	0.868000	0.27982	0.943000	0.37553	0.457000	0.33378	GGG		0.597	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538		7	20	0	0	0	0	7	20				
PRODH2	58510	broad.mit.edu	37	19	36303355	36303355	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr19:36303355A>C	ENST00000301175.3	-	3	523	c.506T>G	c.(505-507)gTg>gGg	p.V169G		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	169					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCAGCCCTTCACCTCCTCTGC	0.647																																						uc002obx.1		NA																	0				ovary(2)	2						c.(505-507)GTG>GGG		kidney and liver proline oxidase 1							34.0	36.0	35.0					19																	36303355		2203	4300	6503	SO:0001583	missense	58510				glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	g.chr19:36303355A>C	U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.506T>G	19.37:g.36303355A>C	ENSP00000301175:p.Val169Gly						p.V169G	NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	524	-	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		169						Missense_Mutation	SNP	ENST00000301175.3	37	c.506T>G	CCDS12478.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.440618	0.83993	.	.	ENSG00000250799	ENST00000301175	T	0.26373	1.74	5.57	5.57	0.84162	.	.	.	.	.	T	0.37433	0.1003	L	0.45352	1.415	0.80722	D	1	D	0.67145	0.996	P	0.56788	0.806	T	0.14839	-1.0458	9	0.87932	D	0	.	13.6868	0.62522	1.0:0.0:0.0:0.0	.	169	Q9UF12	PROD2_HUMAN	G	169	ENSP00000301175:V169G	ENSP00000301175:V169G	V	-	2	0	PRODH2	40995195	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	7.404000	0.79996	2.116000	0.64780	0.482000	0.46254	GTG		0.647	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	NM_021232		8	48	0	0	0	0	8	48				
SIPA1L3	23094	broad.mit.edu	37	19	38655170	38655170	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr19:38655170G>A	ENST00000222345.6	+	15	4341	c.3832G>A	c.(3832-3834)Gca>Aca	p.A1278T		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1278					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CTCCAGCAACGCATCCAGCAG	0.617																																						uc002ohk.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(3832-3834)GCA>ACA		signal-induced proliferation-associated 1 like							85.0	79.0	81.0					19																	38655170		2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38655170G>A	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.3832G>A	19.37:g.38655170G>A	ENSP00000222345:p.Ala1278Thr						p.A1278T	NM_015073	NP_055888	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		15	4341	+			1278					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.3832G>A	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688405	0.88639	.	.	ENSG00000105738	ENST00000222345	T	0.52983	0.64	4.53	3.49	0.39957	.	0.130416	0.50627	N	0.000104	T	0.56572	0.1994	L	0.43152	1.355	0.51482	D	0.999925	D	0.89917	1.0	D	0.71870	0.975	T	0.53151	-0.8479	10	0.40728	T	0.16	-12.6048	11.2121	0.48804	0.0919:0.0:0.9081:0.0	.	1278	O60292	SI1L3_HUMAN	T	1278	ENSP00000222345:A1278T	ENSP00000222345:A1278T	A	+	1	0	SIPA1L3	43347010	1.000000	0.71417	0.958000	0.39756	0.988000	0.76386	3.733000	0.55029	0.886000	0.36113	0.650000	0.86243	GCA		0.617	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		26	56	0	0	0	0	26	56				
PPFIA3	8541	broad.mit.edu	37	19	49640003	49640003	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr19:49640003C>T	ENST00000334186.4	+	15	2037	c.1688C>T	c.(1687-1689)gCg>gTg	p.A563V	PPFIA3_ENST00000602351.1_Missense_Mutation_p.A563V	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	563			A -> S (in dbSNP:rs2303053). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.4}.		cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		TCTGCCCCTGCGGGCTCCATA	0.652																																						uc002pmr.2		NA																	0				lung(1)	1						c.(1687-1689)GCG>GTG		PTPRF interacting protein alpha 3							34.0	28.0	30.0					19																	49640003		2200	4297	6497	SO:0001583	missense	8541					cell surface|cytoplasm	protein binding	g.chr19:49640003C>T	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.1688C>T	19.37:g.49640003C>T	ENSP00000335614:p.Ala563Val					PPFIA3_uc010yai.1_RNA|PPFIA3_uc010emt.2_Missense_Mutation_p.A487V|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.A431V	p.A563V	NM_003660	NP_003651	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	15	2020	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	563					A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	ENST00000334186.4	37	c.1688C>T	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.908061	0.52333	.	.	ENSG00000177380	ENST00000334186;ENST00000421230	T	0.48201	0.82	3.31	2.2	0.27929	.	0.306370	0.21140	U	0.079487	T	0.33000	0.0848	L	0.45352	1.415	0.32339	N	0.560029	P;B;B	0.41673	0.759;0.092;0.128	B;B;B	0.30179	0.112;0.034;0.01	T	0.50676	-0.8800	10	0.59425	D	0.04	-4.1787	11.0324	0.47781	0.1887:0.8112:0.0:0.0	.	487;563;563	B4DEU8;O75145-2;O75145	.;.;LIPA3_HUMAN	V	563;487	ENSP00000335614:A563V	ENSP00000335614:A563V	A	+	2	0	PPFIA3	54331815	0.018000	0.18449	0.406000	0.26421	0.966000	0.64601	1.925000	0.40074	0.889000	0.36185	0.542000	0.68232	GCG		0.652	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		6	8	0	0	0	0	6	8				
OXER1	165140	broad.mit.edu	37	2	42991037	42991037	+	Missense_Mutation	SNP	G	G	C	rs543779607		TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr2:42991037G>C	ENST00000378661.2	-	1	364	c.283C>G	c.(283-285)Ctg>Gtg	p.L95V		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	95					G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cAMP biosynthetic process (GO:0030817)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050648)|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050647)|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050646)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						ATTGGTGCCAGGAAGGCAGAC	0.637																																						uc002rss.2		NA																	0				breast(1)	1						c.(283-285)CTG>GTG		G-protein coupled receptor TG1019							40.0	45.0	43.0					2																	42991037		2203	4300	6503	SO:0001583	missense	165140				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity	g.chr2:42991037G>C	AB083055	CCDS1810.1	2p22.1	2012-08-10			ENSG00000162881	ENSG00000162881		"""GPCR / Class A : Leukotriene receptors"""	24884	protein-coding gene	gene with protein product	"""5-oxo-ETE acid G-protein-coupled receptor 1"""					12065583, 15001665	Standard	NM_148962		Approved	GPCR, TG1019, GPR170	uc002rss.3	Q8TDS5	OTTHUMG00000128643	ENST00000378661.2:c.283C>G	2.37:g.42991037G>C	ENSP00000367930:p.Leu95Val						p.L95V	NM_148962	NP_683765	Q8TDS5	OXER1_HUMAN			1	365	-			95			Extracellular (Potential).		Q86WP7|Q8NGW4	Missense_Mutation	SNP	ENST00000378661.2	37	c.283C>G	CCDS1810.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166425	0.57476	.	.	ENSG00000162881	ENST00000378661	T	0.45668	0.89	3.07	1.07	0.20283	.	0.000000	0.45361	U	0.000367	T	0.29223	0.0727	L	0.27053	0.805	0.32825	D	0.503277	P	0.41624	0.757	B	0.43916	0.436	T	0.38001	-0.9681	10	0.72032	D	0.01	.	5.0992	0.14751	0.1236:0.0:0.6721:0.2043	.	95	Q8TDS5	OXER1_HUMAN	V	95	ENSP00000367930:L95V	ENSP00000367930:L95V	L	-	1	2	OXER1	42844541	.	.	0.148000	0.22405	0.550000	0.35303	.	.	0.465000	0.27167	0.555000	0.69702	CTG		0.637	OXER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250514.1	NM_148962		8	52	0	0	0	0	8	52				
SEMA4F	10505	broad.mit.edu	37	2	74883756	74883756	+	Missense_Mutation	SNP	G	G	A	rs371410540		TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr2:74883756G>A	ENST00000357877.2	+	2	390	c.241G>A	c.(241-243)Gcc>Acc	p.A81T	SEMA4F_ENST00000339773.5_Missense_Mutation_p.A81T	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	81	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						TTATGTTGGCGCCCGGGACAC	0.577																																						uc002sna.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(241-243)GCC>ACC		semaphorin W precursor							112.0	100.0	104.0					2																	74883756		2203	4300	6503	SO:0001583	missense	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74883756G>A	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.241G>A	2.37:g.74883756G>A	ENSP00000350547:p.Ala81Thr					SEMA4F_uc010ysb.1_Missense_Mutation_p.A81T|SEMA4F_uc010ffq.1_Missense_Mutation_p.A81T|SEMA4F_uc010ffr.1_5'UTR|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Missense_Mutation_p.A81T	p.A81T	NM_004263	NP_004254	O95754	SEM4F_HUMAN			2	352	+			81			Sema.|Extracellular (Potential).		Q542Y7|Q9NS35	Missense_Mutation	SNP	ENST00000357877.2	37	c.241G>A	CCDS1955.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164375	0.78339	.	.	ENSG00000135622	ENST00000357877;ENST00000339773;ENST00000434486;ENST00000453930	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	4.9	4.02	0.46733	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.152031	0.42053	N	0.000766	T	0.48409	0.1498	M	0.77616	2.38	0.24798	N	0.992715	D;P;B;P	0.57571	0.98;0.955;0.01;0.899	P;B;B;P	0.47673	0.463;0.271;0.004;0.554	T	0.50625	-0.8806	10	0.66056	D	0.02	.	9.2026	0.37268	0.098:0.0:0.902:0.0	.	81;81;81;81	B7Z931;C9K0A1;O95754-2;O95754	.;.;.;SEM4F_HUMAN	T	81	ENSP00000350547:A81T;ENSP00000342675:A81T;ENSP00000407698:A81T;ENSP00000409141:A81T	ENSP00000342675:A81T	A	+	1	0	SEMA4F	74737264	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.780000	0.47742	1.309000	0.44985	0.650000	0.86243	GCC		0.577	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263		23	107	0	0	0	0	23	107				
TSGA10	80705	broad.mit.edu	37	2	99695246	99695246	+	Missense_Mutation	SNP	C	C	T	rs554381768		TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr2:99695246C>T	ENST00000393483.3	-	12	1602	c.758G>A	c.(757-759)cGa>cAa	p.R253Q	TSGA10_ENST00000410001.1_Missense_Mutation_p.R253Q|TSGA10_ENST00000542655.1_Missense_Mutation_p.R253Q|TSGA10_ENST00000478090.1_Intron|TSGA10_ENST00000355053.4_Missense_Mutation_p.R253Q|TSGA10_ENST00000539964.1_Missense_Mutation_p.R253Q	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	253					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						GATTTCTTCTCGCTGTGCAAT	0.328													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16504	0.0		0.0	False		,,,				2504	0.0					uc002szg.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(757-759)CGA>CAA		testis specific, 10							95.0	93.0	94.0					2																	99695246		2203	4300	6503	SO:0001583	missense	80705				spermatogenesis	cytoplasm|nuclear membrane		g.chr2:99695246C>T	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.758G>A	2.37:g.99695246C>T	ENSP00000377123:p.Arg253Gln					TSGA10_uc002szh.3_Missense_Mutation_p.R253Q|TSGA10_uc002szi.3_Missense_Mutation_p.R253Q|TSGA10_uc010fin.1_Missense_Mutation_p.R253Q|TSGA10_uc010yvn.1_Missense_Mutation_p.R253Q	p.R253Q	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN			10	1386	-			253					B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	ENST00000393483.3	37	c.758G>A	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.692085	0.48202	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482;ENST00000542655	T;T;T;T;T;T;T	0.77620	1.04;1.04;1.04;1.04;-1.11;-1.11;-1.08	5.15	5.15	0.70609	.	0.275052	0.26052	N	0.026635	T	0.66886	0.2835	L	0.38175	1.15	0.37714	D	0.924681	B;B	0.23490	0.086;0.086	B;B	0.15484	0.013;0.003	T	0.64089	-0.6489	10	0.17369	T	0.5	-7.6107	13.9861	0.64337	0.0:1.0:0.0:0.0	.	253;253	B7Z925;Q9BZW7	.;TSG10_HUMAN	Q	253	ENSP00000377123:R253Q;ENSP00000386956:R253Q;ENSP00000347161:R253Q;ENSP00000444419:R253Q;ENSP00000386508:R253Q;ENSP00000377122:R253Q;ENSP00000445623:R253Q	ENSP00000347161:R253Q	R	-	2	0	TSGA10	99061678	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.061000	0.41403	2.673000	0.90976	0.467000	0.42956	CGA		0.328	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911		8	29	0	0	0	0	8	29				
SH3RF3	344558	broad.mit.edu	37	2	110015235	110015235	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr2:110015235C>T	ENST00000309415.6	+	4	1135	c.1135C>T	c.(1135-1137)Cgc>Tgc	p.R379C		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	379							zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						CACCAAGAAACGCCACTCCTT	0.597																																						uc010ywt.1		NA																	0				ovary(1)	1						c.(1135-1137)CGC>TGC		SH3 domain containing ring finger 3							54.0	64.0	61.0					2																	110015235		2201	4300	6501	SO:0001583	missense	344558						zinc ion binding	g.chr2:110015235C>T	AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.1135C>T	2.37:g.110015235C>T	ENSP00000309186:p.Arg379Cys						p.R379C	NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN			4	1135	+			379					A0SDZ7|A8MPR1|Q8NDU1	Missense_Mutation	SNP	ENST00000309415.6	37	c.1135C>T		.	.	.	.	.	.	.	.	.	.	C	22.2	4.262258	0.80358	.	.	ENSG00000172985	ENST00000418513;ENST00000309415	T;T	0.10005	2.92;2.92	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.33990	0.0882	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.69142	0.962	T	0.08493	-1.0719	9	0.66056	D	0.02	-33.004	18.1439	0.89649	0.0:1.0:0.0:0.0	.	379	Q8TEJ3	SH3R3_HUMAN	C	379	ENSP00000414997:R379C;ENSP00000309186:R379C	ENSP00000309186:R379C	R	+	1	0	SH3RF3	109381667	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.338000	0.59316	2.522000	0.85027	0.561000	0.74099	CGC		0.597	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289		3	21	0	0	0	0	3	21				
THSD7B	80731	broad.mit.edu	37	2	138208533	138208533	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr2:138208533G>T	ENST00000409968.1	+	15	3256	c.3078G>T	c.(3076-3078)tgG>tgT	p.W1026C	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.W995C|THSD7B_ENST00000272643.3_Missense_Mutation_p.W1026C			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1026	TSP type-1 13. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GATCCAAATGGCTAAAAGAAA	0.413																																						uc002tva.1		NA																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(2983-2985)TGG>TGT		thrombospondin, type I, domain containing 7B							82.0	78.0	79.0					2																	138208533		1866	4109	5975	SO:0001583	missense	80731							g.chr2:138208533G>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3078G>T	2.37:g.138208533G>T	ENSP00000387145:p.Trp1026Cys					THSD7B_uc010zbj.1_Intron	p.W995C	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	14	2985	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.2985G>T		.	.	.	.	.	.	.	.	.	.	G	24.4	4.528933	0.85706	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.52526	0.66;0.66;0.66	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.69717	0.3142	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65372	-0.6184	10	0.37606	T	0.19	.	20.2191	0.98319	0.0:0.0:1.0:0.0	.	995	C9JKN6	.	C	1026;1026;995	ENSP00000387145:W1026C;ENSP00000272643:W1026C;ENSP00000413841:W995C	ENSP00000272643:W1026C	W	+	3	0	THSD7B	137925003	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.780000	0.95670	0.655000	0.94253	TGG		0.413	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		7	33	1	0	2.01e-06	2.53e-06	7	33				
TTN	7273	broad.mit.edu	37	2	179599567	179599567	+	Silent	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr2:179599567G>A	ENST00000591111.1	-	49	14357	c.14133C>T	c.(14131-14133)gtC>gtT	p.V4711V	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.V3784V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.V5028V|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12091	Ig-like 27.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATACATTCGGACTGTGTTAC	0.418																																						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.(11350-11352)GTC>GTT		titin isoform N2-A							98.0	92.0	94.0					2																	179599567		1873	4103	5976	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179599567G>A	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.14133C>T	2.37:g.179599567G>A						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.V445V	p.V3784V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		48	11576	-			4711					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	Silent	SNP	ENST00000591111.1	37	c.11352C>T																																																																																					0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	74	0	0	0	0	9	74				
HECW2	57520	broad.mit.edu	37	2	197184307	197184307	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr2:197184307C>A	ENST00000260983.3	-	9	1489	c.1307G>T	c.(1306-1308)tGc>tTc	p.C436F	HECW2_ENST00000409111.1_Missense_Mutation_p.C80F	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	436					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CCTCTCAGAGCAGGTCGCTGT	0.498																																						uc002utm.1		NA																	0				skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						c.(1306-1308)TGC>TTC		HECT, C2 and WW domain containing E3 ubiquitin							55.0	56.0	56.0					2																	197184307		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197184307C>A	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1307G>T	2.37:g.197184307C>A	ENSP00000260983:p.Cys436Phe					HECW2_uc002utl.1_Missense_Mutation_p.C80F	p.C436F	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN			9	1490	-			436					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.1307G>T	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	2.769	-0.256199	0.05829	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.30981	1.51;1.53	5.64	3.84	0.44239	.	1.089900	0.06720	N	0.774739	T	0.25975	0.0633	N	0.19112	0.55	0.24965	N	0.991703	B	0.28512	0.214	B	0.28784	0.094	T	0.35798	-0.9774	10	0.44086	T	0.13	.	14.3605	0.66768	0.0:0.6543:0.3457:0.0	.	436	Q9P2P5	HECW2_HUMAN	F	80;436	ENSP00000386775:C80F;ENSP00000260983:C436F	ENSP00000260983:C436F	C	-	2	0	HECW2	196892552	0.032000	0.19561	0.023000	0.16930	0.004000	0.04260	0.190000	0.17057	0.926000	0.37118	-0.181000	0.13052	TGC		0.498	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		25	41	1	0	5.45e-15	7.55e-15	25	41				
SLC16A14	151473	broad.mit.edu	37	2	230911039	230911039	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr2:230911039G>T	ENST00000295190.4	-	4	1261	c.803C>A	c.(802-804)cCc>cAc	p.P268H		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	268						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GGCCTGATCGGGGCACTCCTG	0.577																																						uc002vqd.1		NA																	0				ovary(4)|skin(2)	6						c.(802-804)CCC>CAC		solute carrier family 16 (monocarboxylic acid							102.0	104.0	103.0					2																	230911039		2203	4300	6503	SO:0001583	missense	151473					integral to membrane|plasma membrane	symporter activity	g.chr2:230911039G>T	BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"""Solute carriers"""	26417	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 14"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 14"""				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.803C>A	2.37:g.230911039G>T	ENSP00000295190:p.Pro268His					FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.2_Missense_Mutation_p.P268H|SLC16A14_uc002vqf.2_Missense_Mutation_p.P268H	p.P268H	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)	4	1166	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)	268			Extracellular (Potential).		A8KA08|Q53R92|Q96NI7	Missense_Mutation	SNP	ENST00000295190.4	37	c.803C>A	CCDS2473.1	.	.	.	.	.	.	.	.	.	.	G	9.718	1.158964	0.21454	.	.	ENSG00000163053	ENST00000295190;ENST00000457406;ENST00000412034	T;T;T	0.08720	3.06;3.07;3.07	4.8	-7.91	0.01165	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	4.625010	0.00166	N	0.000004	T	0.06508	0.0167	L	0.29908	0.895	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.29549	-1.0008	10	0.49607	T	0.09	.	8.0817	0.30748	0.0839:0.1343:0.6131:0.1687	.	268;268	E7EMG7;Q7RTX9	.;MOT14_HUMAN	H	268	ENSP00000295190:P268H;ENSP00000400352:P268H;ENSP00000395775:P268H	ENSP00000295190:P268H	P	-	2	0	SLC16A14	230619283	0.000000	0.05858	0.000000	0.03702	0.404000	0.30871	-1.128000	0.03247	-1.743000	0.01340	0.561000	0.74099	CCC		0.577	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256918.2	NM_152527		27	129	1	0	1.26e-06	1.6e-06	27	129				
BPIFB2	80341	broad.mit.edu	37	20	31606143	31606143	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr20:31606143C>A	ENST00000170150.3	+	8	851	c.656C>A	c.(655-657)tCc>tAc	p.S219Y		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	219						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										GACTACATTTCCCTGGAAGTC	0.567																																						uc002wyj.2		NA																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(655-657)TCC>TAC		bactericidal/permeability-increasing							83.0	76.0	78.0					20																	31606143		2203	4300	6503	SO:0001583	missense	80341					extracellular region	lipid binding	g.chr20:31606143C>A	AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"""BPI fold containing"""	16177	protein-coding gene	gene with protein product		614108	"""bactericidal/permeability-increasing protein-like 1"""	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.656C>A	20.37:g.31606143C>A	ENSP00000170150:p.Ser219Tyr						p.S219Y	NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN			8	850	+			219					Q6UWN3|Q6ZME0|Q8NFQ7	Missense_Mutation	SNP	ENST00000170150.3	37	c.656C>A	CCDS13210.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.321275	0.41096	.	.	ENSG00000078898	ENST00000170150	T	0.07444	3.19	5.17	5.17	0.71159	.	0.256048	0.28257	N	0.016007	T	0.21801	0.0525	M	0.68317	2.08	0.24607	N	0.993749	D	0.64830	0.994	P	0.57371	0.819	T	0.02196	-1.1197	10	0.54805	T	0.06	-16.613	14.03	0.64609	0.0:1.0:0.0:0.0	.	219	Q8N4F0	BPIB2_HUMAN	Y	219	ENSP00000170150:S219Y	ENSP00000170150:S219Y	S	+	2	0	BPIFB2	31069804	0.022000	0.18835	0.351000	0.25721	0.196000	0.23810	2.044000	0.41241	2.689000	0.91719	0.561000	0.74099	TCC		0.567	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227		28	176	1	0	7.38e-10	9.62e-10	28	176				
FAM83C	128876	broad.mit.edu	37	20	33876323	33876323	+	Silent	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr20:33876323C>T	ENST00000374408.3	-	3	843	c.747G>A	c.(745-747)ggG>ggA	p.G249G	FAM83C-AS1_ENST00000429167.1_RNA	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	249										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CCAGGGCCTGCCCCGTGAAGC	0.622																																						uc010zux.1		NA																	0				ovary(2)	2						c.(745-747)GGG>GGA		hypothetical protein LOC128876							65.0	61.0	62.0					20																	33876323		2203	4300	6503	SO:0001819	synonymous_variant	128876							g.chr20:33876323C>T	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.747G>A	20.37:g.33876323C>T						FAM83C_uc002xcb.1_Silent_p.G73G	p.G249G	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		3	865	-			249					Q14D67|Q5JWN6|Q8N276	Silent	SNP	ENST00000374408.3	37	c.747G>A	CCDS13251.1																																																																																				0.622	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			19	463	0	0	0	0	19	463				
SFI1	9814	broad.mit.edu	37	22	32003955	32003955	+	Silent	SNP	G	G	C			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr22:32003955G>C	ENST00000400288.2	+	22	2295	c.2190G>C	c.(2188-2190)gtG>gtC	p.V730V	SFI1_ENST00000414585.1_Silent_p.V577V|SFI1_ENST00000443011.1_Silent_p.V577V|SFI1_ENST00000400289.1_Silent_p.V648V|SFI1_ENST00000443326.1_Silent_p.V648V|SFI1_ENST00000432498.1_Silent_p.V699V|SFI1_ENST00000540643.1_Silent_p.V675V	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	730					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CTGTGTCAGTGCAGATGTATT	0.592																																						uc003ale.2		NA																	0				central_nervous_system(1)	1						c.(2188-2190)GTG>GTC		spindle assembly associated Sfi1 homolog isoform							54.0	60.0	58.0					22																	32003955		2066	4206	6272	SO:0001819	synonymous_variant	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:32003955G>C	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.2190G>C	22.37:g.32003955G>C						SFI1_uc003alf.2_Silent_p.V699V|SFI1_uc003alg.2_Silent_p.V648V|SFI1_uc011alp.1_Silent_p.V636V|SFI1_uc011alq.1_Silent_p.V675V|SFI1_uc003alh.2_RNA|SFI1_uc010gwi.2_RNA	p.V730V	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN			22	2583	+			730					A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Silent	SNP	ENST00000400288.2	37	c.2190G>C	CCDS43004.1																																																																																				0.592	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		7	47	0	0	0	0	7	47				
CHL1	10752	broad.mit.edu	37	3	447203	447203	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr3:447203G>T	ENST00000256509.2	+	28	4126	c.3484G>T	c.(3484-3486)Gga>Tga	p.G1162*	CHL1_ENST00000397491.2_Nonsense_Mutation_p.G1146*	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	528					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GCCTCTCAAAGGAAGCCTTCG	0.398																																						uc003bou.2		NA																	0				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12						c.(3436-3438)GGA>TGA		cell adhesion molecule with homology to L1CAM							70.0	67.0	68.0					3																	447203		2203	4300	6503	SO:0001587	stop_gained	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:447203G>T	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.3484G>T	3.37:g.447203G>T	ENSP00000256509:p.Gly1162*					CHL1_uc003bot.2_Nonsense_Mutation_p.G1162*|CHL1_uc011asi.1_Nonsense_Mutation_p.G1109*	p.G1146*	NM_006614	NP_006605	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	27	3707	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	1146			Cytoplasmic (Potential).		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Nonsense_Mutation	SNP	ENST00000256509.2	37	c.3436G>T	CCDS2556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	46|46	12.389223|12.389223	0.99663|0.99663	.|.	.|.	ENSG00000134121|ENSG00000134121	ENST00000256509;ENST00000397491|ENST00000445697	.|D	.|0.86366	.|-2.11	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|D	.|0.91399	.|0.7286	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.91917	.|0.5544	.|6	0.87932|0.87932	D|D	0|0	.|.	13.114|13.114	0.59289|0.59289	0.0731:0.0:0.9269:0.0|0.0731:0.0:0.9269:0.0	.|.	.|.	.|.	.|.	X|N	1162;1146|295	.|ENSP00000395239:K295N	ENSP00000256509:G1162X|ENSP00000395239:K295N	G|K	+|+	1|3	0|2	CHL1|CHL1	422203|422203	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.987000|0.987000	0.75469|0.75469	5.009000|5.009000	0.63998|0.63998	2.685000|2.685000	0.91497|0.91497	0.655000|0.655000	0.94253|0.94253	GGA|AAG		0.398	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		7	31	1	0	2.77e-08	3.57e-08	7	31				
SCN10A	6336	broad.mit.edu	37	3	38739945	38739945	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr3:38739945G>A	ENST00000449082.2	-	27	4765	c.4766C>T	c.(4765-4767)gCg>gTg	p.A1589V		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1589					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CCCCTTGGCCGCTCGGATCAG	0.522																																						uc003ciq.2		NA																	0				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(4765-4767)GCG>GTG		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						116.0	111.0	113.0					3																	38739945		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38739945G>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4766C>T	3.37:g.38739945G>A	ENSP00000390600:p.Ala1589Val						p.A1589V	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	27	4766	-			1589			IV.|Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential).		A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.4766C>T	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797883	0.70567	.	.	ENSG00000185313	ENST00000449082	D	0.98362	-4.89	5.42	2.6	0.31112	Ion transport (1);	0.179099	0.47455	D	0.000240	D	0.97520	0.9188	L	0.31926	0.97	0.28739	N	0.902095	D	0.63880	0.993	P	0.55824	0.785	D	0.94540	0.7744	10	0.87932	D	0	.	18.7936	0.91985	0.0:0.5796:0.4204:0.0	.	1589	Q9Y5Y9	SCNAA_HUMAN	V	1589	ENSP00000390600:A1589V	ENSP00000390600:A1589V	A	-	2	0	SCN10A	38714949	0.187000	0.23238	0.960000	0.40013	0.994000	0.84299	0.977000	0.29475	0.392000	0.25172	-0.165000	0.13383	GCG		0.522	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		17	67	0	0	0	0	17	67				
ROBO1	6091	broad.mit.edu	37	3	78711146	78711146	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr3:78711146C>G	ENST00000464233.1	-	15	2198	c.2085G>C	c.(2083-2085)tgG>tgC	p.W695C	ROBO1_ENST00000495273.1_Missense_Mutation_p.W659C|ROBO1_ENST00000436010.2_Missense_Mutation_p.W656C|ROBO1_ENST00000467549.1_Missense_Mutation_p.W659C	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	695	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AACTCACTGTCCAGTGCACTT	0.453																																						uc003dqe.2		NA																	0				large_intestine(2)	2						c.(2083-2085)TGG>TGC		roundabout 1 isoform a							71.0	76.0	75.0					3																	78711146		1926	4131	6057	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78711146C>G	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.2085G>C	3.37:g.78711146C>G	ENSP00000420321:p.Trp695Cys					ROBO1_uc003dqb.2_Missense_Mutation_p.W656C|ROBO1_uc003dqc.2_Missense_Mutation_p.W659C|ROBO1_uc003dqd.2_Missense_Mutation_p.W659C|ROBO1_uc010hoh.2_5'UTR|ROBO1_uc011bgl.1_Missense_Mutation_p.W267C|ROBO1_uc003dqf.1_Missense_Mutation_p.W374C	p.W695C	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	15	2293	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	695			Extracellular (Potential).|Fibronectin type-III 2.		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.2085G>C	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500422	0.85176	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82	5.42	5.42	0.78866	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.92554	0.7635	M	0.79123	2.44	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.993;0.999;1.0;1.0;1.0;1.0	D	0.92222	0.5785	9	.	.	.	.	19.2213	0.93797	0.0:1.0:0.0:0.0	.	659;659;695;659;659;656	Q9Y6N7-3;Q1RMC7;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;.;ROBO1_HUMAN;.;.;.	C	656;659;695;659;659;699	ENSP00000406043:W656C;ENSP00000420321:W695C;ENSP00000420637:W659C;ENSP00000417992:W659C	.	W	-	3	0	ROBO1	78793836	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.804000	0.85993	2.516000	0.84829	0.555000	0.69702	TGG		0.453	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		4	10	0	0	0	0	4	10				
RHO	6010	broad.mit.edu	37	3	129247885	129247885	+	Silent	SNP	C	C	T	rs149615742	byFrequency	TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr3:129247885C>T	ENST00000296271.3	+	1	403	c.309C>T	c.(307-309)ttC>ttT	p.F103F		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	103					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|protein phosphorylation (GO:0006468)|protein-chromophore linkage (GO:0018298)|red, far-red light phototransduction (GO:0009585)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|retinoid metabolic process (GO:0001523)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cell-cell junction (GO:0005911)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor inner segment membrane (GO:0060342)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|rough endoplasmic reticulum membrane (GO:0030867)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)|photoreceptor activity (GO:0009881)|retinal binding (GO:0016918)			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	ATGGATACTTCGTCTTCGGGC	0.602																																					Esophageal Squamous(118;214 1623 30842 43234 46940)	uc003emt.2		NA																	0					0						c.(307-309)TTC>TTT		rhodopsin	Halothane(DB01159)	C		2,4404	4.2+/-10.8	0,2,2201	155.0	137.0	143.0		309	-2.3	1.0	3	dbSNP_134	143	0,8600		0,0,4300	no	coding-synonymous	RHO	NM_000539.3		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		103/349	129247885	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6010				protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding	g.chr3:129247885C>T	AB065668	CCDS3063.1	3q21-q24	2014-01-28	2008-04-16		ENSG00000163914	ENSG00000163914		"""GPCR / Class A : Opsin receptors"""	10012	protein-coding gene	gene with protein product	"""opsin 2, rod pigment"""	180380	"""retinitis pigmentosa 4, autosomal dominant"""	RP4		2016091	Standard	NM_000539		Approved	OPN2, CSNBAD1	uc003emt.3	P08100	OTTHUMG00000159542	ENST00000296271.3:c.309C>T	3.37:g.129247885C>T							p.F103F	NM_000539	NP_000530	P08100	OPSD_HUMAN		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	1	404	+		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)	103			Extracellular.		Q16414|Q2M249	Silent	SNP	ENST00000296271.3	37	c.309C>T	CCDS3063.1																																																																																				0.602	RHO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356101.1	NM_000539		21	148	0	0	0	0	21	148				
CFI	3426	broad.mit.edu	37	4	110667595	110667595	+	Silent	SNP	A	A	G			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr4:110667595A>G	ENST00000394634.2	-	11	1419	c.1212T>C	c.(1210-1212)ctT>ctC	p.L404L	CFI_ENST00000512148.1_Silent_p.L397L|CFI_ENST00000394635.3_Silent_p.L412L	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I	404	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		CTATACGTTTAAGGTCGGGGT	0.328																																						uc003hzr.3		NA																	0					0						c.(1210-1212)CTT>CTC		complement factor I preproprotein							77.0	74.0	75.0					4																	110667595		2203	4300	6503	SO:0001819	synonymous_variant	3426				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr4:110667595A>G	J02770	CCDS34049.1	4q25	2014-09-17	2006-02-10	2006-02-10		ENSG00000205403	3.4.21.45	"""Complement system"""	5394	protein-coding gene	gene with protein product	"""Konglutinogen-activating factor"", ""C3b-inactivator"""	217030	"""I factor (complement)"""	IF		2956252	Standard	NM_000204		Approved	FI, C3b-INA, KAF	uc003hzr.4	P05156		ENST00000394634.2:c.1212T>C	4.37:g.110667595A>G						CFI_uc003hzq.2_Silent_p.L201L|CFI_uc011cft.1_Silent_p.L412L|CFI_uc003hzs.3_Silent_p.L397L	p.L404L	NM_000204	NP_000195	P05156	CFAI_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000331)	11	1420	-		Hepatocellular(203;0.217)	404			Peptidase S1.		O60442	Silent	SNP	ENST00000394634.2	37	c.1212T>C	CCDS34049.1																																																																																				0.328	CFI-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_000204		6	39	0	0	0	0	6	39				
CASP3	836	broad.mit.edu	37	4	185553070	185553070	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr4:185553070C>T	ENST00000308394.4	-	6	594	c.332G>A	c.(331-333)aGg>aAg	p.R111K	CASP3_ENST00000393588.4_Missense_Mutation_p.R111K|CASP3_ENST00000523916.1_Missense_Mutation_p.R111K|CASP3_ENST00000393585.2_Missense_Mutation_p.R111K|CASP3_ENST00000517513.1_Missense_Mutation_p.R111K	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	111					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell homeostasis (GO:0001782)|cell fate commitment (GO:0045165)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte differentiation (GO:0030218)|execution phase of apoptosis (GO:0097194)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glial cell apoptotic process (GO:0034349)|heart development (GO:0007507)|hippo signaling (GO:0035329)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|keratinocyte differentiation (GO:0030216)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|proteolysis (GO:0006508)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|release of cytochrome c from mitochondria (GO:0001836)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:0097200)|peptidase activity (GO:0008233)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Minocycline(DB01017)	AAAACTGCTCCTTTTGCTGTG	0.328																																						uc003iwh.2		NA																	0				kidney(1)	1						c.(331-333)AGG>AAG		caspase 3 preproprotein	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)						96.0	101.0	100.0					4																	185553070		2203	4300	6503	SO:0001583	missense	836				activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding	g.chr4:185553070C>T	BC016926	CCDS3836.1	4q34	2008-02-05	2005-08-17		ENSG00000164305	ENSG00000164305		"""Caspases"""	1504	protein-coding gene	gene with protein product		600636	"""caspase 3, apoptosis-related cysteine protease"""			8780721	Standard	NM_004346		Approved	CPP32, CPP32B, Yama, apopain	uc003iwi.3	P42574	OTTHUMG00000133681	ENST00000308394.4:c.332G>A	4.37:g.185553070C>T	ENSP00000311032:p.Arg111Lys					CASP3_uc003iwg.2_Missense_Mutation_p.R111K|CASP3_uc003iwi.2_Missense_Mutation_p.R111K	p.R111K	NM_004346	NP_004337	P42574	CASP3_HUMAN		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	6	595	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)	111					A8K5M2|D3DP53|Q96AN1|Q96KP2	Missense_Mutation	SNP	ENST00000308394.4	37	c.332G>A	CCDS3836.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248960	0.80024	.	.	ENSG00000164305	ENST00000308394;ENST00000393585;ENST00000523916;ENST00000438467;ENST00000517513;ENST00000393588;ENST00000447121	T;T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15;2.11	5.65	5.65	0.86999	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.229194	0.50627	D	0.000112	T	0.71651	0.3365	L	0.52266	1.64	0.43267	D	0.995211	P;D	0.89917	0.893;1.0	P;D	0.91635	0.876;0.999	T	0.64791	-0.6324	10	0.23891	T	0.37	.	19.7312	0.96182	0.0:1.0:0.0:0.0	.	111;111	P42574;A8MVM1	CASP3_HUMAN;.	K	111;111;111;120;111;111;111	ENSP00000311032:R111K;ENSP00000377210:R111K;ENSP00000428929:R111K;ENSP00000428372:R111K;ENSP00000377213:R111K;ENSP00000407142:R111K	ENSP00000311032:R111K	R	-	2	0	CASP3	185790064	0.998000	0.40836	1.000000	0.80357	0.919000	0.55068	1.721000	0.38032	2.677000	0.91161	0.561000	0.74099	AGG		0.328	CASP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257885.2	NM_004346		38	86	0	0	0	0	38	86				
FAT1	2195	broad.mit.edu	37	4	187521088	187521088	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr4:187521088G>A	ENST00000441802.2	-	22	12276	c.12067C>T	c.(12067-12069)Cag>Tag	p.Q4023*	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4023	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CCTCCATTCTGGCAAGGGTTG	0.537										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(12067-12069)CAG>TAG		FAT tumor suppressor 1 precursor							56.0	57.0	57.0					4																	187521088		1974	4148	6122	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187521088G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.12067C>T	4.37:g.187521088G>A	ENSP00000406229:p.Gln4023*	HNSCC(5;0.00058)				FAT1_uc003ize.2_5'Flank	p.Q4023*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			22	12255	-			4023			Extracellular (Potential).|EGF-like 2.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.12067C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	52	19.968110	0.99925	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.0	5.0	0.66597	.	0.191625	0.45606	D	0.000344	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	18.851	0.92230	0.0:0.0:1.0:0.0	.	.	.	.	X	4023;4025	.	ENSP00000260147:Q4025X	Q	-	1	0	FAT1	187758082	1.000000	0.71417	1.000000	0.80357	0.028000	0.11728	4.517000	0.60503	2.756000	0.94617	0.655000	0.94253	CAG		0.537	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		9	59	0	0	0	0	9	59				
RASA1	5921	broad.mit.edu	37	5	86659245	86659245	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr5:86659245C>T	ENST00000274376.6	+	11	2098	c.1534C>T	c.(1534-1536)Cga>Tga	p.R512*	RASA1_ENST00000506290.1_Nonsense_Mutation_p.R346*|RASA1_ENST00000456692.2_Nonsense_Mutation_p.R335*|RASA1_ENST00000512763.1_Nonsense_Mutation_p.R345*	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	512	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AAGCGAAAAACGAGCTACCAA	0.328																																						uc003kiw.2		NA																	0				upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5						c.(1534-1536)CGA>TGA		RAS p21 protein activator 1 isoform 1							97.0	95.0	96.0					5																	86659245		2203	4300	6503	SO:0001587	stop_gained	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86659245C>T		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.1534C>T	5.37:g.86659245C>T	ENSP00000274376:p.Arg512*					RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Nonsense_Mutation_p.R335*|RASA1_uc011ctv.1_Nonsense_Mutation_p.R345*|RASA1_uc011ctw.1_Nonsense_Mutation_p.R346*|RASA1_uc010jaw.2_Nonsense_Mutation_p.R334*	p.R512*	NM_002890	NP_002881	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	11	1652	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	512			PH.		B2R6W3|Q9UDI1	Nonsense_Mutation	SNP	ENST00000274376.6	37	c.1534C>T	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	C	43	10.509737	0.99418	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.5777	0.95452	0.0:1.0:0.0:0.0	.	.	.	.	X	512;545;335;345;346	.	ENSP00000274376:R512X	R	+	1	2	RASA1	86695001	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.047000	0.57383	2.621000	0.88768	0.467000	0.42956	CGA		0.328	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		18	31	0	0	0	0	18	31				
PCDHGB4	8641	broad.mit.edu	37	5	140768679	140768679	+	Missense_Mutation	SNP	C	C	T	rs376966829		TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr5:140768679C>T	ENST00000519479.1	+	1	1228	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C	PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	410	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTCTAGACCGCGAGCAGAA	0.438																																						uc003lkc.1		NA																	0					0						c.(1228-1230)CGC>TGC		protocadherin gamma subfamily B, 4 isoform 1							135.0	136.0	135.0					5																	140768679		1936	4139	6075	SO:0001583	missense	8641				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140768679C>T	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1228C>T	5.37:g.140768679C>T	ENSP00000428288:p.Arg410Cys					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.R410C	p.R410C	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1228	+			410			Cadherin 4.|Extracellular (Potential).		O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	c.1228C>T	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	13.57	2.277953	0.40294	.	.	ENSG00000253953	ENST00000519479	T	0.01787	4.64	5.14	4.21	0.49690	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.19644	0.0472	H	0.98701	4.305	0.39994	D	0.975071	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.25606	-1.0127	9	0.87932	D	0	.	12.6403	0.56707	0.3204:0.6796:0.0:0.0	.	410;410	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	C	410	ENSP00000428288:R410C	ENSP00000428288:R410C	R	+	1	0	PCDHGB4	140748863	0.013000	0.17824	0.789000	0.31954	0.020000	0.10135	0.020000	0.13466	2.568000	0.86640	0.650000	0.86243	CGC		0.438	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		23	98	0	0	0	0	23	98				
HIST1H3I	8354	broad.mit.edu	37	6	27839920	27839920	+	Silent	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr6:27839920C>T	ENST00000328488.2	-	1	179	c.174G>A	c.(172-174)tcG>tcA	p.S58S		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	58					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCAGCTCGGTCGACTTCTGGT	0.652																																						uc003njy.2		NA																	0				ovary(1)	1						c.(172-174)TCG>TCA		histone cluster 1, H3i							62.0	68.0	66.0					6																	27839920		2203	4300	6503	SO:0001819	synonymous_variant	8354				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27839920C>T	X83550	CCDS4636.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000182572	ENSG00000275379		"""Histones / Replication-dependent"""	4771	protein-coding gene	gene with protein product		602814	"""H3 histone family, member F"", ""histone 1, H3i"""	H3FF		9031620, 9439656, 12408966	Standard	NM_003533		Approved	H3/f, H3.f	uc003njy.3	P68431	OTTHUMG00000016184	ENST00000328488.2:c.174G>A	6.37:g.27839920C>T							p.S58S	NM_003533	NP_003524	P68431	H31_HUMAN			1	180	-			58					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000328488.2	37	c.174G>A	CCDS4636.1																																																																																				0.652	HIST1H3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043452.1	NM_003533		21	134	0	0	0	0	21	134				
EHMT2	10919	broad.mit.edu	37	6	31847881	31847881	+	Silent	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr6:31847881G>A	ENST00000375537.4	-	28	3619	c.3613C>T	c.(3613-3615)Ctg>Ttg	p.L1205L	EHMT2_ENST00000395728.3_Silent_p.L1262L|SLC44A4_ENST00000544672.1_5'Flank|SLC44A4_ENST00000375562.4_5'Flank|EHMT2_ENST00000375528.4_Silent_p.L1228L|SLC44A4_ENST00000465707.1_5'Flank|EHMT2_ENST00000375530.4_Silent_p.L1171L|SLC44A4_ENST00000229729.6_5'Flank|EHMT2_ENST00000480912.1_5'UTR	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1205					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						ACAGGGGGCAGGGAGCCGAGC	0.657																																						uc003nxz.1		NA																	0				ovary(1)	1						c.(3613-3615)CTG>TTG		euchromatic histone-lysine N-methyltransferase 2							44.0	47.0	46.0					6																	31847881		1511	2708	4219	SO:0001819	synonymous_variant	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31847881G>A	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.3613C>T	6.37:g.31847881G>A						EHMT2_uc003nxv.1_Silent_p.L244L|EHMT2_uc003nxw.1_Silent_p.L244L|EHMT2_uc003nxx.1_Silent_p.L403L|EHMT2_uc003nxy.1_Silent_p.L1003L|EHMT2_uc011don.1_Silent_p.L1228L|EHMT2_uc003nya.1_Silent_p.L1171L|SLC44A4_uc010jti.2_5'Flank|SLC44A4_uc011dol.1_5'Flank|SLC44A4_uc011dom.1_5'Flank	p.L1205L	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN			28	3623	-			1205					B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Silent	SNP	ENST00000375537.4	37	c.3613C>T	CCDS4725.1																																																																																				0.657	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		20	53	0	0	0	0	20	53				
RIMS1	22999	broad.mit.edu	37	6	72968754	72968754	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr6:72968754G>A	ENST00000521978.1	+	18	2993	c.2993G>A	c.(2992-2994)cGa>cAa	p.R998Q	RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000491071.2_Missense_Mutation_p.R998Q|RIMS1_ENST00000348717.5_Missense_Mutation_p.R997Q|RIMS1_ENST00000520567.1_Missense_Mutation_p.R997Q|RIMS1_ENST00000518273.1_Missense_Mutation_p.R998Q|RIMS1_ENST00000517827.1_Missense_Mutation_p.R457Q|RIMS1_ENST00000522291.1_Missense_Mutation_p.R997Q|RIMS1_ENST00000523963.1_Missense_Mutation_p.R472Q|RIMS1_ENST00000264839.7_Missense_Mutation_p.R998Q|RIMS1_ENST00000425662.2_Missense_Mutation_p.R391Q|RIMS1_ENST00000401910.3_Missense_Mutation_p.R471Q|RIMS1_ENST00000517960.1_Missense_Mutation_p.R997Q	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	998					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.R998Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GATGCCTCCCGAAGTCCAGTT	0.353																																						uc003pga.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)	10						c.(2992-2994)CGA>CAA		regulating synaptic membrane exocytosis 1							127.0	126.0	127.0					6																	72968754		1918	4126	6044	SO:0001583	missense	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72968754G>A	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.2993G>A	6.37:g.72968754G>A	ENSP00000428417:p.Arg998Gln					RIMS1_uc011dyb.1_Missense_Mutation_p.R623Q|RIMS1_uc003pgc.2_Missense_Mutation_p.R624Q|RIMS1_uc010kaq.2_Missense_Mutation_p.R471Q|RIMS1_uc011dyc.1_Missense_Mutation_p.R472Q|RIMS1_uc010kar.2_Missense_Mutation_p.R391Q|RIMS1_uc011dyd.1_Missense_Mutation_p.R457Q|RIMS1_uc003pgf.2_Missense_Mutation_p.R214Q|RIMS1_uc003pgg.2_Missense_Mutation_p.R215Q|RIMS1_uc003pgi.2_Missense_Mutation_p.R214Q|RIMS1_uc003pgh.2_Missense_Mutation_p.R214Q|RIMS1_uc003pgd.2_Missense_Mutation_p.R215Q|RIMS1_uc003pge.2_Missense_Mutation_p.R215Q|RIMS1_uc011dye.1_5'UTR|RIMS1_uc011dyf.1_5'Flank|RIMS1_uc003pgb.3_Missense_Mutation_p.R624Q|RIMS1_uc010kas.1_Missense_Mutation_p.R457Q	p.R998Q	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN			18	3070	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	998					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.2993G>A	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.94|17.94	3.510692|3.510692	0.64522|0.64522	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000522211|ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.18338	.|2.44;2.73;2.65;2.73;2.71;2.65;2.57;2.59;2.7;2.67;2.74;2.53;2.73;2.22	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|0.000000	.|0.52532	.|D	.|0.000071	T|T	0.27098|0.27098	0.0664|0.0664	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|B;D;D;P;P;P;B;P;D;B;D;P	.|0.89917	.|0.17;0.994;0.999;0.745;0.938;0.787;0.054;0.703;0.998;0.181;1.0;0.787	.|B;P;D;B;B;B;B;B;D;B;D;B	.|0.77557	.|0.005;0.885;0.99;0.061;0.166;0.09;0.002;0.07;0.945;0.056;0.99;0.099	T|T	0.00995|0.00995	-1.1487|-1.1487	5|10	.|0.49607	.|T	.|0.09	-4.9164|-4.9164	19.5526|19.5526	0.95328|0.95328	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|457;472;998;457;471;997;250;998;997;251;998;998	.|B7Z3S3;E9PHF5;E9PHR1;B7Z9Z3;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5	.|.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN	K|Q	89|998;998;998;997;998;997;998;997;998;997;997;998;471;472;391;391;457;223	.|ENSP00000430101:R998Q;ENSP00000275037:R997Q;ENSP00000264839:R998Q;ENSP00000429959:R997Q;ENSP00000430408:R998Q;ENSP00000430502:R997Q;ENSP00000430932:R997Q;ENSP00000428417:R998Q;ENSP00000385649:R471Q;ENSP00000428328:R472Q;ENSP00000411235:R391Q;ENSP00000389503:R391Q;ENSP00000428367:R457Q;ENSP00000359448:R223Q	.|ENSP00000264839:R998Q	E|R	+|+	1|2	0|0	RIMS1|RIMS1	73025475|73025475	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.818000|0.818000	0.46254|0.46254	5.368000|5.368000	0.66133|0.66133	2.701000|2.701000	0.92244|0.92244	0.563000|0.563000	0.77884|0.77884	GAA|CGA		0.353	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			13	85	0	0	0	0	13	85				
DOPEY1	23033	broad.mit.edu	37	6	83872585	83872585	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr6:83872585G>A	ENST00000349129.2	+	38	7299	c.7039G>A	c.(7039-7041)Gaa>Aaa	p.E2347K	DOPEY1_ENST00000237163.5_Missense_Mutation_p.E2231K|DOPEY1_ENST00000369739.3_Missense_Mutation_p.E2338K|DOPEY1_ENST00000484282.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2347					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ACATCAACGAGAATTTAAACC	0.393																																						uc003pjs.1		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(7039-7041)GAA>AAA		dopey family member 1							204.0	191.0	195.0					6																	83872585		2203	4300	6503	SO:0001583	missense	23033				protein transport			g.chr6:83872585G>A	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.7039G>A	6.37:g.83872585G>A	ENSP00000195654:p.Glu2347Lys					DOPEY1_uc011dyy.1_Missense_Mutation_p.E2338K|DOPEY1_uc010kbl.1_Missense_Mutation_p.E2338K|DOPEY1_uc003pjt.2_RNA	p.E2347K	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	38	7299	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	2347					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.7039G>A	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	G	35	5.482435	0.96307	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.48201	0.82;0.82	5.74	5.74	0.90152	.	0.091426	0.85682	D	0.000000	T	0.60689	0.2288	L	0.58810	1.83	0.80722	D	1	D;D;D	0.69078	0.995;0.997;0.997	D;D;D	0.70487	0.969;0.95;0.95	T	0.58607	-0.7607	10	0.51188	T	0.08	.	19.9326	0.97124	0.0:0.0:1.0:0.0	.	2238;2338;2347	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	K	2347;2231;2231	ENSP00000195654:E2347K;ENSP00000237163:E2231K	ENSP00000237163:E2231K	E	+	1	0	DOPEY1	83929304	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	9.400000	0.97290	2.720000	0.93068	0.650000	0.86243	GAA		0.393	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		38	84	0	0	0	0	38	84				
GRM1	2911	broad.mit.edu	37	6	146755794	146755794	+	Silent	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr6:146755794G>A	ENST00000282753.1	+	8	3682	c.3447G>A	c.(3445-3447)tcG>tcA	p.S1149S	GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000361719.2_Silent_p.S1149S|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1149	Ser-rich.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CGCCTCCGTCGCCTTTCCGCG	0.652																																						uc010khw.1		NA																	0				lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(3445-3447)TCG>TCA		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						38.0	41.0	40.0					6																	146755794		2202	4300	6502	SO:0001819	synonymous_variant	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755794G>A	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3447G>A	6.37:g.146755794G>A						GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	p.S1149S	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3917	+		Ovarian(120;0.0387)	1149			Ser-rich.|Cytoplasmic (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	ENST00000282753.1	37	c.3447G>A	CCDS5209.1																																																																																				0.652	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		21	77	0	0	0	0	21	77				
NXPH1	30010	broad.mit.edu	37	7	8790658	8790658	+	Silent	SNP	G	G	A	rs371803371		TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr7:8790658G>A	ENST00000405863.1	+	3	986	c.75G>A	c.(73-75)acG>acA	p.T25T	NXPH1_ENST00000602349.1_5'UTR|NXPH1_ENST00000497400.1_3'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	25	II.					extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		CCAATTTAACGAACGGTGGAA	0.423																																						uc003srv.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(73-75)ACG>ACA		neurexophilin 1 precursor							107.0	102.0	104.0					7																	8790658		1941	4137	6078	SO:0001819	synonymous_variant	30010					extracellular region		g.chr7:8790658G>A	AB047362	CCDS47540.1	7p22	2003-03-20			ENSG00000122584	ENSG00000122584			20693	protein-coding gene	gene with protein product		604639				9570794	Standard	NM_152745		Approved		uc003srv.3	P58417	OTTHUMG00000151941	ENST00000405863.1:c.75G>A	7.37:g.8790658G>A						NXPH1_uc011jxh.1_5'UTR	p.T25T	NM_152745	NP_689958	P58417	NXPH1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)	3	986	+		Ovarian(82;0.0628)	25			II.		Q8NB31	Silent	SNP	ENST00000405863.1	37	c.75G>A	CCDS47540.1																																																																																				0.423	NXPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324591.1	NM_152745		32	69	0	0	0	0	32	69				
HECW1	23072	broad.mit.edu	37	7	43484716	43484716	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr7:43484716G>A	ENST00000395891.2	+	11	2550	c.1945G>A	c.(1945-1947)Gac>Aac	p.D649N	HECW1_ENST00000453890.1_Missense_Mutation_p.D649N	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	649					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCAGGATGGCGACACGCACCC	0.721																																						uc003tid.1		NA																	0				ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(1945-1947)GAC>AAC		NEDD4-like ubiquitin-protein ligase 1							15.0	20.0	18.0					7																	43484716		2126	4210	6336	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484716G>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1945G>A	7.37:g.43484716G>A	ENSP00000379228:p.Asp649Asn					HECW1_uc011kbi.1_Missense_Mutation_p.D649N	p.D649N	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			11	2550	+			649					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.1945G>A	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171023	0.57584	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.32023	1.47;1.48	4.63	4.63	0.57726	.	.	.	.	.	T	0.24160	0.0585	L	0.43152	1.355	0.41578	D	0.988721	P;B	0.44090	0.826;0.357	B;B	0.33042	0.157;0.014	T	0.08207	-1.0733	9	0.23302	T	0.38	.	17.4805	0.87672	0.0:0.0:1.0:0.0	.	649;649	B4DH42;Q76N89	.;HECW1_HUMAN	N	649	ENSP00000379228:D649N;ENSP00000407774:D649N	ENSP00000265522:D649N	D	+	1	0	HECW1	43451241	1.000000	0.71417	0.686000	0.30086	0.739000	0.42172	5.411000	0.66386	2.109000	0.64355	0.563000	0.77884	GAC		0.721	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		9	17	0	0	0	0	9	17				
LRRN3	54674	broad.mit.edu	37	7	110763263	110763263	+	Silent	SNP	C	C	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr7:110763263C>A	ENST00000422987.3	+	2	1266	c.435C>A	c.(433-435)ctC>ctA	p.L145L	IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000451085.1_Silent_p.L145L|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000308478.5_Silent_p.L145L|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000447215.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	145					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TACAAGAACTCTATATTAATC	0.373																																						uc003vft.3		NA																	0				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8						c.(433-435)CTC>CTA		leucine rich repeat neuronal 3 precursor							84.0	89.0	88.0					7																	110763263		2203	4300	6503	SO:0001819	synonymous_variant	54674					integral to membrane		g.chr7:110763263C>A	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.435C>A	7.37:g.110763263C>A						IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Silent_p.L145L|LRRN3_uc003vfs.3_Silent_p.L145L	p.L145L	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	1481	+			145			LRR 4.|Extracellular (Potential).		O43377|Q6I9V8|Q8IYQ6	Silent	SNP	ENST00000422987.3	37	c.435C>A	CCDS5754.1																																																																																				0.373	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		5	49	1	0	0.00116845	0.00138319	5	49				
TNFRSF10B	8795	broad.mit.edu	37	8	22900702	22900702	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr8:22900702C>T	ENST00000276431.4	-	2	483	c.199G>A	c.(199-201)Gcg>Acg	p.A67T	TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.A67T|TNFRSF10B_ENST00000519910.1_5'UTR|TNFRSF10B_ENST00000542226.1_Intron	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	67			A -> V (in dbSNP:rs1047266). {ECO:0000269|PubMed:10072170, ECO:0000269|PubMed:9285725, ECO:0000269|PubMed:9325248, ECO:0000269|PubMed:9373179, ECO:0000269|PubMed:9430227, ECO:0000269|Ref.11}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to endoplasmic reticulum stress (GO:0034976)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|TRAIL binding (GO:0045569)			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		TGTGGGGCCGCTCTCTGCTGG	0.572																																					GBM(94;1064 1342 1839 21060 42553)	uc003xcu.2		NA																	0					0						c.(199-201)GCG>ACG		tumor necrosis factor receptor superfamily,							123.0	103.0	110.0					8																	22900702		2203	4300	6503	SO:0001583	missense	8795				activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding	g.chr8:22900702C>T	AF012628	CCDS6035.1, CCDS6036.1	8p22-p21	2006-02-22			ENSG00000120889	ENSG00000120889		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11905	protein-coding gene	gene with protein product		603612				9285725, 9311998	Standard	NM_003842		Approved	DR5, KILLER, TRICK2A, TRAIL-R2, TRICKB, CD262	uc003xcu.2	O14763	OTTHUMG00000097826	ENST00000276431.4:c.199G>A	8.37:g.22900702C>T	ENSP00000276431:p.Ala67Thr					TNFRSF10B_uc003xct.2_Missense_Mutation_p.A67T|TNFRSF10B_uc011kzq.1_Intron|TNFRSF10B_uc003xcv.2_5'UTR	p.A67T	NM_003842	NP_003833	O14763	TR10B_HUMAN		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)	2	492	-		Prostate(55;0.0421)|Breast(100;0.067)	67			Extracellular (Potential).|TNFR-Cys 1.		O14720|O15508|O15517|O15531|Q6UXM8|Q7Z360|Q9BVE0	Missense_Mutation	SNP	ENST00000276431.4	37	c.199G>A	CCDS6035.1	.	.	.	.	.	.	.	.	.	.	c	11.88	1.769777	0.31320	.	.	ENSG00000120889	ENST00000276431;ENST00000347739	D;D	0.85861	-1.82;-2.04	2.57	-0.426	0.12314	.	7739.340000	0.00357	U	0.000023	D	0.86058	0.5842	L	0.38175	1.15	0.09310	N	0.999998	D;D	0.89917	0.999;1.0	D;D	0.69824	0.925;0.966	T	0.70051	-0.4978	10	0.33940	T	0.23	.	1.2684	0.02016	0.2265:0.4132:0.2214:0.139	.	67;67	O14763;O14763-2	TR10B_HUMAN;.	T	67	ENSP00000276431:A67T;ENSP00000317859:A67T	ENSP00000276431:A67T	A	-	1	0	TNFRSF10B	22956647	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.337000	0.07852	-0.117000	0.11872	-0.300000	0.09419	GCG		0.572	TNFRSF10B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215099.2	NM_147187		5	38	0	0	0	0	5	38				
XKR4	114786	broad.mit.edu	37	8	56015652	56015652	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr8:56015652G>T	ENST00000327381.6	+	1	704	c.604G>T	c.(604-606)Gcc>Tcc	p.A202S		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	202						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TGGGTCTGCAGCCGGGGAAGG	0.677																																						uc003xsf.2		NA																	0				pancreas(2)	2						c.(604-606)GCC>TCC		XK, Kell blood group complex subunit-related							24.0	27.0	26.0					8																	56015652		2197	4289	6486	SO:0001583	missense	114786					integral to membrane		g.chr8:56015652G>T	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.604G>T	8.37:g.56015652G>T	ENSP00000328326:p.Ala202Ser						p.A202S	NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		1	636	+			202					Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.604G>T	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	G	6.025	0.373024	0.11409	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	D	0.83163	-1.69	5.57	3.74	0.42951	.	0.709858	0.12797	N	0.438307	T	0.72439	0.3460	N	0.20986	0.625	0.25473	N	0.987802	B	0.16603	0.018	B	0.12837	0.008	T	0.59225	-0.7494	10	0.35671	T	0.21	2.1276	11.0818	0.48064	0.0695:0.1293:0.8012:0.0	.	202	Q5GH76	XKR4_HUMAN	S	202	ENSP00000328326:A202S	ENSP00000328326:A202S	A	+	1	0	XKR4	56178206	1.000000	0.71417	1.000000	0.80357	0.236000	0.25371	5.041000	0.64196	0.692000	0.31613	-0.142000	0.14014	GCC		0.677	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		15	38	1	0	6.72e-11	8.98e-11	15	38				
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2	R80*(MEWO_SKIN)|R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)	17																	1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	p.0?(1112)|p.R80*(88)|p.?(13)|p.R80Q(2)|p.P135L(2)|p.T79fs*37(1)|p.L65fs*38(1)|p.R80fs*66(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)|p.R80?(1)|p.R80L(1)	haematopoietic_and_lymphoid_tissue(298)|skin(206)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(76)|oesophagus(72)|upper_aerodigestive_tract(63)|soft_tissue(60)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|biliary_tract(16)|thyroid(15)|NS(14)|stomach(14)|large_intestine(7)|autonomic_ganglia(7)|meninges(7)|liver(6)|salivary_gland(4)|thymus(4)|vulva(3)|endometrium(3)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM014695	CDKN2A	M	rs121913388	c.(238-240)CGA>TGA		cyclin-dependent kinase inhibitor 2A isoform 1							11.0	14.0	13.0					9																	21971120		2172	4246	6418	SO:0001587	stop_gained	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971120G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.238C>T	9.37:g.21971120G>A	ENSP00000307101:p.Arg80*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P135L	p.R80*	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	450	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	80		R -> P (in CMM2; loss of CDK4 binding).|R -> L (in a head and neck tumor).	ANK 3.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.238C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		11	9	0	0	0	0	11	9				
VPS13A	23230	broad.mit.edu	37	9	79938130	79938130	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr9:79938130G>T	ENST00000360280.3	+	45	6238	c.5978G>T	c.(5977-5979)cGc>cTc	p.R1993L	VPS13A_ENST00000376636.3_Missense_Mutation_p.R1954L|VPS13A_ENST00000376634.4_Missense_Mutation_p.R1993L|VPS13A_ENST00000357409.5_Missense_Mutation_p.R1993L	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1993					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTCACAATTCGCTCCCCAGTG	0.383																																						uc004akr.2		NA																	0				pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						c.(5977-5979)CGC>CTC		vacuolar protein sorting 13A isoform A							106.0	98.0	100.0					9																	79938130		2203	4300	6503	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79938130G>T	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.5978G>T	9.37:g.79938130G>T	ENSP00000353422:p.Arg1993Leu					VPS13A_uc004akp.3_Missense_Mutation_p.R1993L|VPS13A_uc004akq.3_Missense_Mutation_p.R1993L|VPS13A_uc004aks.2_Missense_Mutation_p.R1954L|VPS13A_uc004akt.2_Missense_Mutation_p.R333L	p.R1993L	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			45	6238	+			1993					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.5978G>T	CCDS6655.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.1|26.1	4.704870|4.704870	0.88924|0.88924	.|.	.|.	ENSG00000197969|ENSG00000197969	ENST00000419472|ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	.|T;T;T;T	.|0.67698	.|-0.05;-0.28;-0.18;-0.08	4.76|4.76	4.76|4.76	0.60689|0.60689	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83390|0.83390	0.5244|0.5244	M|M	0.83603|0.83603	2.65|2.65	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|1.0;0.998;0.999;1.0;1.0	D|D	0.86018|0.86018	0.1505|0.1505	5|10	.|0.62326	.|D	.|0.03	.|.	18.1326|18.1326	0.89606|0.89606	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|245;1954;1993;1993;1993	.|B1ALW4;Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.|.;.;VP13A_HUMAN;.;.	S|L	246|1993;1954;1993;1993	.|ENSP00000365821:R1993L;ENSP00000365823:R1954L;ENSP00000353422:R1993L;ENSP00000349985:R1993L	.|ENSP00000349985:R1993L	A|R	+|+	1|2	0|0	VPS13A|VPS13A	79127950|79127950	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	6.904000|6.904000	0.75708|0.75708	2.341000|2.341000	0.79615|0.79615	0.585000|0.585000	0.79938|0.79938	GCT|CGC		0.383	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		17	33	1	0	3.41e-10	4.48e-10	17	33				
ACTL7B	10880	broad.mit.edu	37	9	111617576	111617576	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr9:111617576C>G	ENST00000374667.3	-	1	1663	c.635G>C	c.(634-636)gGc>gCc	p.G212A		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	212						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CAGCACGTCGCCCTCGGATAT	0.662																																						uc004bdi.2		NA																	0				pancreas(1)	1						c.(634-636)GGC>GCC		actin-like 7B							45.0	38.0	40.0					9																	111617576		2203	4298	6501	SO:0001583	missense	10880					actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111617576C>G	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.635G>C	9.37:g.111617576C>G	ENSP00000363799:p.Gly212Ala						p.G212A	NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN			1	700	-			212					B2R9Q2|Q5JSV1	Missense_Mutation	SNP	ENST00000374667.3	37	c.635G>C	CCDS6771.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501590	0.85176	.	.	ENSG00000148156	ENST00000374667	D	0.97598	-4.45	4.63	4.63	0.57726	.	0.000000	0.39985	N	0.001219	D	0.98814	0.9600	H	0.94423	3.535	0.54753	D	0.999986	D	0.89917	1.0	D	0.97110	1.0	D	0.99453	1.0941	10	0.87932	D	0	.	15.04	0.71781	0.0:1.0:0.0:0.0	.	212	Q9Y614	ACL7B_HUMAN	A	212	ENSP00000363799:G212A	ENSP00000363799:G212A	G	-	2	0	ACTL7B	110657397	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.651000	0.83577	2.401000	0.81631	0.655000	0.94253	GGC		0.662	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686		6	38	0	0	0	0	6	38				
MEGF9	1955	broad.mit.edu	37	9	123476176	123476176	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr9:123476176G>T	ENST00000373930.3	-	1	572	c.461C>A	c.(460-462)cCg>cAg	p.P154Q	MEGF9_ENST00000426959.1_Missense_Mutation_p.P146Q	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	154	Pro-rich.					integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						GGTCGGCGCCGGGCCAGTGGT	0.741																																						uc004bkj.1		NA																	0					0						c.(436-438)CCG>CAG		multiple EGF-like-domains 9							22.0	31.0	28.0					9																	123476176		1874	4068	5942	SO:0001583	missense	1955					integral to membrane	calcium ion binding	g.chr9:123476176G>T	AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"""EGF-like-domain, multiple 5"""	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.461C>A	9.37:g.123476176G>T	ENSP00000363040:p.Pro154Gln					MEGF9_uc011lyb.1_Missense_Mutation_p.P146Q|MEGF9_uc004bkk.3_Missense_Mutation_p.P146Q	p.P146Q	NM_001080497	NP_001073966	Q9H1U4	MEGF9_HUMAN			1	437	-			154			Extracellular (Potential).|Pro-rich.		B7Z315|O75098	Missense_Mutation	SNP	ENST00000373930.3	37	c.437C>A	CCDS48010.2	.	.	.	.	.	.	.	.	.	.	G	12.16	1.854860	0.32791	.	.	ENSG00000106780	ENST00000373930;ENST00000426959	T;T	0.17213	2.29;2.35	3.58	-2.39	0.06602	.	1.108770	0.06977	N	0.819232	T	0.06917	0.0176	N	0.14661	0.345	0.09310	N	1	B;B	0.13145	0.007;0.001	B;B	0.10450	0.005;0.001	T	0.39583	-0.9607	10	0.14252	T	0.57	-0.0063	0.1356	0.00078	0.2831:0.1542:0.23:0.3326	.	154;146	Q9H1U4;C9J1K8	MEGF9_HUMAN;.	Q	154;146	ENSP00000363040:P154Q;ENSP00000392666:P146Q	ENSP00000363040:P154Q	P	-	2	0	MEGF9	122515997	0.966000	0.33281	0.001000	0.08648	0.000000	0.00434	-0.162000	0.10012	-0.349000	0.08274	-0.224000	0.12420	CCG		0.741	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055513.1	NM_001080497		6	47	1	0	2.74e-10	3.62e-10	6	47				
NOTCH1	4851	broad.mit.edu	37	9	139405210	139405210	+	Missense_Mutation	SNP	G	G	A	rs587778563		TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr9:139405210G>A	ENST00000277541.6	-	17	2710	c.2635C>T	c.(2635-2637)Cgg>Tgg	p.R879W		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	879	EGF-like 23; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		R -> W (in dbSNP:rs11574895).		anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCGCCGTGCCGGCACGGGCTC	0.701			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(2635-2637)CGG>TGG		notch1 preproprotein							31.0	39.0	37.0					9																	139405210		2040	4167	6207	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139405210G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.2635C>T	9.37:g.139405210G>A	ENSP00000277541:p.Arg879Trp	HNSCC(8;0.001)				NOTCH1_uc004cia.1_Missense_Mutation_p.R109W	p.R879W	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	17	2635	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	879			Extracellular (Potential).|EGF-like 23; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.2635C>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605467	0.66445	.	.	ENSG00000148400	ENST00000277541	D	0.89270	-2.49	4.88	4.88	0.63580	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.269718	0.37304	N	0.002158	D	0.92841	0.7723	M	0.75264	2.295	0.53688	D	0.999971	D	0.69078	0.997	P	0.61722	0.893	D	0.93285	0.6663	10	0.59425	D	0.04	.	13.6549	0.62333	0.0:0.0:0.845:0.155	.	879	P46531	NOTC1_HUMAN	W	879	ENSP00000277541:R879W	ENSP00000277541:R879W	R	-	1	2	NOTCH1	138525031	1.000000	0.71417	0.885000	0.34714	0.293000	0.27360	5.409000	0.66374	2.253000	0.74438	0.561000	0.74099	CGG		0.701	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		11	43	0	0	0	0	11	43				
FAM47A	158724	broad.mit.edu	37	X	34149633	34149633	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chrX:34149633G>A	ENST00000346193.3	-	1	814	c.763C>T	c.(763-765)Cgt>Tgt	p.R255C		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	255										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GATCTCCGACGAGTGATGGGA	0.622																																						uc004ddg.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(763-765)CGT>TGT		hypothetical protein LOC158724							31.0	32.0	32.0					X																	34149633		2199	4293	6492	SO:0001583	missense	158724							g.chrX:34149633G>A	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.763C>T	X.37:g.34149633G>A	ENSP00000345029:p.Arg255Cys						p.R255C	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	796	-			255					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.763C>T	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.399920	0.25291	.	.	ENSG00000185448	ENST00000346193	T	0.14391	2.51	0.149	0.149	0.14863	.	.	.	.	.	T	0.15522	0.0374	N	0.22421	0.69	0.09310	N	1	D	0.71674	0.998	P	0.58210	0.835	T	0.18023	-1.0350	8	0.56958	D	0.05	.	.	.	.	.	255	Q5JRC9	FA47A_HUMAN	C	255	ENSP00000345029:R255C	ENSP00000345029:R255C	R	-	1	0	FAM47A	34059554	0.083000	0.21467	0.027000	0.17364	0.027000	0.11550	1.871000	0.39539	0.177000	0.19895	0.179000	0.17066	CGT		0.622	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		8	17	0	0	0	0	8	17				
FAM155B	27112	broad.mit.edu	37	X	68725656	68725656	+	Silent	SNP	C	C	A	rs142803076	byFrequency	TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chrX:68725656C>A	ENST00000252338.4	+	1	573	c.531C>A	c.(529-531)gcC>gcA	p.A177A	AL158069.1_ENST00000579664.1_RNA	NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	177						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						GTGCCCCGGCCGAGTTCCCCT	0.577																																						uc004dxk.2		NA																	0				ovary(1)|breast(1)	2						c.(529-531)GCC>GCA		transmembrane protein 28				0,3835		0,0,0,1632,571	30.0	34.0	33.0		531	1.5	0.6	X	dbSNP_134	33	1,6727		0,0,1,2428,1871	no	coding-synonymous	FAM155B	NM_015686.2		0,0,1,4060,2442	AA,AC,A,CC,C		0.0149,0.0,0.0095		177/473	68725656	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	27112					integral to membrane		g.chrX:68725656C>A	AF087142	CCDS35317.1	Xq13.1	2008-04-15	2008-04-15	2008-04-15	ENSG00000130054	ENSG00000130054			30701	protein-coding gene	gene with protein product			"""transmembrane protein 28"", ""chromosome X open reading frame 63"""	TMEM28, CXorf63			Standard	NM_015686		Approved	TED	uc004dxk.3	O75949	OTTHUMG00000021756	ENST00000252338.4:c.531C>A	X.37:g.68725656C>A							p.A177A	NM_015686	NP_056501	O75949	F155B_HUMAN			1	579	+			177					B1ALV6|B9EGK1|D3DVU1	Silent	SNP	ENST00000252338.4	37	c.531C>A	CCDS35317.1																																																																																				0.577	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057037.1	NM_015686		19	40	1	0	0.006122	0.00716962	19	40				
PCDH19	57526	broad.mit.edu	37	X	99662705	99662705	+	Silent	SNP	C	C	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chrX:99662705C>A	ENST00000373034.4	-	1	2566	c.891G>T	c.(889-891)ctG>ctT	p.L297L	PCDH19_ENST00000420881.2_Silent_p.L297L|PCDH19_ENST00000255531.7_Silent_p.L297L	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	297	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TGACAGTGACCAGGCCACTGT	0.597																																						uc010nmz.2		NA																	0				ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						c.(889-891)CTG>CTT		protocadherin 19 isoform b							78.0	83.0	82.0					X																	99662705		2122	4223	6345	SO:0001819	synonymous_variant	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99662705C>A	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.891G>T	X.37:g.99662705C>A						PCDH19_uc004efw.3_Silent_p.L297L|PCDH19_uc004efx.3_Silent_p.L297L	p.L297L	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN			1	2567	-			297			Cadherin 3.|Extracellular (Potential).		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Silent	SNP	ENST00000373034.4	37	c.891G>T	CCDS55462.1																																																																																				0.597	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		43	44	1	0	9.39e-22	1.33e-21	43	44				
ATP2B3	492	broad.mit.edu	37	X	152808591	152808591	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chrX:152808591C>G	ENST00000349466.2	+	6	1207	c.881C>G	c.(880-882)gCt>gGt	p.A294G	ATP2B3_ENST00000393842.1_Missense_Mutation_p.A294G|ATP2B3_ENST00000359149.3_Missense_Mutation_p.A294G|ATP2B3_ENST00000263519.4_Missense_Mutation_p.A294G|ATP2B3_ENST00000370186.1_Missense_Mutation_p.A294G|ATP2B3_ENST00000370181.2_Missense_Mutation_p.A294G			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	294					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGCTTGGAGCTGGCGGAGAG	0.572																																						uc004fht.1		NA																	0				pancreas(1)	1						c.(880-882)GCT>GGT		plasma membrane calcium ATPase 3 isoform 3b							92.0	81.0	85.0					X																	152808591		2203	4300	6503	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152808591C>G	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.881C>G	X.37:g.152808591C>G	ENSP00000343886:p.Ala294Gly					ATP2B3_uc004fhs.1_Missense_Mutation_p.A294G	p.A294G	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN			5	1007	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		294			Cytoplasmic (Potential).		B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.881C>G	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892816	0.72524	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72;-2.72;-2.72	4.71	4.71	0.59529	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.85155	0.5632	L	0.28115	0.83	0.58432	D	0.999999	B;B	0.12013	0.005;0.003	B;B	0.15484	0.013;0.008	T	0.81647	-0.0838	10	0.46703	T	0.11	-3.6532	15.819	0.78626	0.0:1.0:0.0:0.0	.	294;294	Q16720;Q16720-2	AT2B3_HUMAN;.	G	294	ENSP00000359205:A294G;ENSP00000343886:A294G;ENSP00000377425:A294G;ENSP00000352062:A294G;ENSP00000263519:A294G;ENSP00000359200:A294G	ENSP00000263519:A294G	A	+	2	0	ATP2B3	152461785	1.000000	0.71417	0.984000	0.44739	0.532000	0.34746	6.046000	0.71029	2.067000	0.61834	0.600000	0.82982	GCT		0.572	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		26	49	0	0	0	0	26	49				
TP53	7157	broad.mit.edu	37	17	7579390	7579393	+	Frame_Shift_Del	DEL	GGAA	GGAA	-			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr17:7579390_7579393delGGAA	ENST00000269305.4	-	4	483_486	c.294_297delTTCC	c.(292-297)ccttccfs	p.PS98fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.PS98fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Frame_Shift_Del_p.PS98fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.PS98fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.PS98fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.PS98fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	98	Interaction with WWOX.		P -> L (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.S99fs*48(3)|p.S99fs*23(3)|p.Q100fs*37(3)|p.G59fs*23(3)|p.S99F(2)|p.V73fs*9(1)|p.S99P(1)|p.W91fs*13(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.S99fs*24(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGTTTTCTGGGAAGGGACAGAAG	0.642		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		28	Deletion - Frameshift(17)|Whole gene deletion(8)|Substitution - Missense(3)	p.0?(7)|p.P98S(4)|p.S99fs*48(3)|p.G59fs*23(3)|p.P98L(2)|p.S99F(2)|p.V73fs*9(1)|p.S99P(1)|p.W91fs*13(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.S99fs*24(1)	upper_aerodigestive_tract(4)|ovary(4)|bone(4)|large_intestine(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|breast(2)|pancreas(2)|stomach(1)|liver(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(292-297)CCTTCCfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579390_7579393delGGAA	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.294_297delTTCC	17.37:g.7579390_7579393delGGAA	ENSP00000269305:p.Pro98fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Frame_Shift_Del_p.P98fs|TP53_uc002gih.2_Frame_Shift_Del_p.P98fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.P98fs|TP53_uc010cni.1_Frame_Shift_Del_p.P98fs|TP53_uc002gij.2_Frame_Shift_Del_p.P98fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Del_p.P59fs|TP53_uc010cnk.1_Frame_Shift_Del_p.P113fs	p.P98fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	488_491	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	98_99		S -> F (in sporadic cancers; somatic mutation).|S -> P (in a sporadic cancer; somatic mutation).	Interaction with WWOX.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.294_297delTTCC	CCDS11118.1																																																																																				0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		72	59	NA	NA	NA	NA	72	59	---	---	---	---
MYO1D	4642	broad.mit.edu	37	17	31094740	31094741	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr17:31094740_31094741delCT	ENST00000318217.5	-	7	1048_1049	c.744_745delAG	c.(742-747)agagttfs	p.RV248fs	MYO1D_ENST00000394649.4_Frame_Shift_Del_p.RV160fs|MYO1D_ENST00000583621.1_Frame_Shift_Del_p.RV248fs|MYO1D_ENST00000579584.1_Frame_Shift_Del_p.RV248fs	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	248	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TCAGCAACAACTCTGAATTCGG	0.381																																						uc002hho.1		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(742-747)AGAGTTfs		myosin ID																																				SO:0001589	frameshift_variant	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:31094740_31094741delCT	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.744_745delAG	17.37:g.31094742_31094743delCT	ENSP00000324527:p.Arg248fs					MYO1D_uc002hhp.1_Frame_Shift_Del_p.R248fs|MYO1D_uc010wcb.1_Frame_Shift_Del_p.R248fs	p.R248fs	NM_015194	NP_056009	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		7	756_757	-			248_249			Myosin head-like.		A6H8V3|Q8NHP9	Frame_Shift_Del	DEL	ENST00000318217.5	37	c.744_745delAG	CCDS32615.1																																																																																				0.381	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			18	26	NA	NA	NA	NA	18	26	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9061827	9061828	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr19:9061827_9061828delAT	ENST00000397910.4	-	3	25821_25822	c.25618_25619delAT	c.(25618-25620)atgfs	p.M8540fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8542	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTTCTACTCATAAGAGTGGTC	0.52																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(25618-25620)ATGfs		mucin 16																																				SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9061827_9061828delAT	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.25618_25619delAT	19.37:g.9061827_9061828delAT	ENSP00000381008:p.Met8540fs						p.M8540fs	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	25822_25823	-			8542			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Frame_Shift_Del	DEL	ENST00000397910.4	37	c.25618_25619delAT	CCDS54212.1																																																																																				0.520	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		16	73	NA	NA	NA	NA	16	73	---	---	---	---
UXS1	80146	broad.mit.edu	37	2	106774513	106774513	+	Splice_Site	DEL	C	C	-			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr2:106774513delC	ENST00000409501.3	-	5	334		c.e5+1		UXS1_ENST00000540130.1_Splice_Site|UXS1_ENST00000283148.7_Splice_Site|UXS1_ENST00000428048.2_Intron|UXS1_ENST00000479621.1_Splice_Site			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1						protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						TGCAAACTTACCAAAATTCTT	0.303																																						uc002tdm.2		NA																	0				ovary(2)	2						c.e5+1		UDP-glucuronate decarboxylase 1							78.0	69.0	72.0					2																	106774513		1776	4036	5812	SO:0001630	splice_region_variant	80146				cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity	g.chr2:106774513delC	AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	17729	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 6E, member 12"""	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.276+1G>-	2.37:g.106774513delC						UXS1_uc002tdn.2_Splice_Site_p.L97_splice|UXS1_uc002tdo.2_Splice_Site_p.L35_splice|UXS1_uc010ywh.1_Intron	p.L92_splice	NM_025076	NP_079352	Q8NBZ7	UXS1_HUMAN			5	374	-								Q8NBX3|Q9H5C2	Splice_Site	DEL	ENST00000409501.3	37	c.276_splice	CCDS46378.1																																																																																				0.303	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	NM_025076.3	Intron	2	4	NA	NA	NA	NA	2	4	---	---	---	---
EIF2S2	8894	broad.mit.edu	37	20	32693175	32693175	+	Splice_Site	DEL	T	T	-			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr20:32693175delT	ENST00000374980.2	-	2	413	c.192delA	c.(190-192)aaa>aa	p.K64fs		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	64					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|male germ cell proliferation (GO:0002176)|male gonad development (GO:0008584)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						ACCACGCACCTTTTTTCCTAG	0.483																																						uc002xaf.2		NA																	0				large_intestine(1)	1						c.(190-192)AAAfs		eukaryotic translation initiation factor 2 beta							229.0	203.0	212.0					20																	32693175		2203	4300	6503	SO:0001630	splice_region_variant	8894					cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity	g.chr20:32693175delT	M29536	CCDS13231.1	20q11.2	2012-04-17	2002-08-29		ENSG00000125977	ENSG00000125977		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	3266	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 67"""	603908	"""eukaryotic translation initiation factor 2, subunit 2 (beta, 38kD )"""	EIF2		3044606	Standard	XM_005260605		Approved	EIF2beta, PPP1R67	uc031rsu.1	P20042	OTTHUMG00000032287	ENST00000374980.2:c.193+1A>-	20.37:g.32693175delT						EIF2S2_uc002xag.2_Frame_Shift_Del_p.K64fs|EIF2S2_uc010ges.2_Frame_Shift_Del_p.K39fs	p.K64fs	NM_003908	NP_003899	P20042	IF2B_HUMAN			2	361	-			64					Q9BVU0|Q9UJE4	Frame_Shift_Del	DEL	ENST00000374980.2	37	c.192delA	CCDS13231.1																																																																																				0.483	EIF2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078765.2	NM_003908	Frame_Shift_Del	7	1120	NA	NA	NA	NA	7	1120	---	---	---	---
GMPPB	29925	broad.mit.edu	37	3	49755604	49755605	+	3'UTR	DEL	TG	TG	-	rs373677849|rs367664871		TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr3:49755604_49755605delTG	ENST00000480687.1	-	0	4779_4780				RNF123_ENST00000497099.1_3'UTR|AMIGO3_ENST00000535833.1_Frame_Shift_Del_p.Q432fs|RNF123_ENST00000433785.1_Intron|RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000320431.7_Frame_Shift_Del_p.Q432fs			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TACTGAGGACTGTGCGCTCAGC	0.683																																						uc003cxj.2		NA																	0				pancreas(1)	1						c.(1294-1296)CAGfs		adhesion molecule with Ig-like domain 3																																				SO:0001624	3_prime_UTR_variant	386724				heterophilic cell-cell adhesion	integral to membrane		g.chr3:49755604_49755605delTG	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.*3581CA>-	3.37:g.49755606_49755607delTG						RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	p.Q432fs	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	1634_1635	-			432			Cytoplasmic (Potential).		A8K6N5|Q9H7U3	Frame_Shift_Del	DEL	ENST00000480687.1	37	c.1294_1295delCA	CCDS2803.1																																																																																				0.683	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334		27	108	NA	NA	NA	NA	27	108	---	---	---	---
