#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	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KRTAP10-10	353333	broad.mit.edu	37	21	46057497	46057497	+	Missense_Mutation	SNP	A	A	G	rs377408	byFrequency	TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr21:46057497A>G	ENST00000380095.1	+	1	225	c.163A>G	c.(163-165)Acg>Gcg	p.T55A	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	55	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.T55A(1)		NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CTGCTGCCAGACGGCCTGTGA	0.662													a|||	2	0.000399361	0.0	0.0	5008	,	,		18516	0.0		0.001	False		,,,				2504	0.001					ENST00000380095.1																			1	Substitution - Missense(1)	p.T55A(1)	lung(1)	NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						c.(163-165)Acg>Gcg		keratin associated protein 10-10							56.0	62.0	60.0					21																	46057497		2203	4300	6503	SO:0001583	missense	353333					keratin filament		g.chr21:46057497A>G	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"""Keratin associated proteins"""	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.163A>G	21.37:g.46057497A>G	ENSP00000369438:p.Thr55Ala					TSPEAR_ENST00000323084.4_Intron	p.T55A	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN			1	225	+			55			15 X 5 AA repeats of C-C-X(3).			Missense_Mutation	SNP	ENST00000380095.1	37	c.163A>G	CCDS33585.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	g	0.001	-3.777528	0.00004	.	.	ENSG00000221859	ENST00000380095	T	0.00976	5.48	1.05	-1.25	0.09405	.	.	.	.	.	T	0.00356	0.0011	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42849	-0.9427	9	0.02654	T	1	.	3.9159	0.09222	0.1957:0.4879:0.3163:0.0	rs377408	55	P60014	KR10A_HUMAN	A	55	ENSP00000369438:T55A	ENSP00000369438:T55A	T	+	1	0	KRTAP10-10	44881925	0.000000	0.05858	0.062000	0.19696	0.039000	0.13416	0.043000	0.13971	-0.506000	0.06558	-0.741000	0.03529	ACG		0.662	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		4	134	0	0	0	1	0	4	134				
DSG2	1829	broad.mit.edu	37	18	29126227	29126227	+	Missense_Mutation	SNP	A	A	T			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr18:29126227A>T	ENST00000261590.8	+	15	3087	c.2878A>T	c.(2878-2880)Agc>Tgc	p.S960C	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	960					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CCAGCCACAGAGCCTTATTGT	0.473																																						ENST00000261590.8																			0				breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49						c.(2878-2880)Agc>Tgc		desmoglein 2							108.0	109.0	109.0					18																	29126227		1981	4163	6144	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29126227A>T	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.2878A>T	18.37:g.29126227A>T	ENSP00000261590:p.Ser960Cys					RP11-75N4.2_ENST00000583706.1_RNA	p.S960C	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		15	3087	+			960					Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.2878A>T	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	A	18.89	3.720372	0.68959	.	.	ENSG00000046604	ENST00000261590	T	0.77229	-1.08	5.16	2.05	0.26809	.	0.490245	0.20583	N	0.089496	T	0.69540	0.3122	L	0.43152	1.355	0.80722	D	1	P	0.49358	0.923	B	0.43916	0.436	T	0.69003	-0.5260	10	0.87932	D	0	.	7.842	0.29403	0.8275:0.0:0.1725:0.0	.	960	Q14126	DSG2_HUMAN	C	960	ENSP00000261590:S960C	ENSP00000261590:S960C	S	+	1	0	DSG2	27380225	0.056000	0.20664	0.895000	0.35142	0.902000	0.53008	1.618000	0.36954	0.689000	0.31550	0.533000	0.62120	AGC		0.473	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		18	29	0	0	0	1	0	18	29				
NFATC2	4773	broad.mit.edu	37	20	50158922	50158922	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr20:50158922C>G	ENST00000396009.3	-	1	336	c.117G>C	c.(115-117)ttG>ttC	p.L39F	NFATC2_ENST00000371564.3_Missense_Mutation_p.L39F|NFATC2_ENST00000610033.1_5'UTR|NFATC2_ENST00000414705.1_Intron|NFATC2_ENST00000609943.1_Intron|NFATC2_ENST00000609507.1_Intron	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	39					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CGTTCGGATTCAAATACTCAT	0.672																																						ENST00000371564.3																		EWSR1/NFATC2(9)	0				breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(115-117)ttG>ttC		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							23.0	27.0	26.0					20																	50158922		2201	4300	6501	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50158922C>G	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.117G>C	20.37:g.50158922C>G	ENSP00000379330:p.Leu39Phe					NFATC2_ENST00000414705.1_Intron|NFATC2_ENST00000396009.3_Missense_Mutation_p.L39F	p.L39F	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			1	336	-	Hepatocellular(150;0.248)		39					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.117G>C	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.362042	0.41902	.	.	ENSG00000101096	ENST00000371564;ENST00000396009	T;T	0.15139	2.45;2.45	4.18	4.18	0.49190	.	0.945369	0.08769	N	0.896500	T	0.13756	0.0333	L	0.29908	0.895	0.80722	D	1	B;B	0.27380	0.177;0.087	B;B	0.26310	0.026;0.068	T	0.05971	-1.0853	10	0.09590	T	0.72	-4.5588	13.5813	0.61905	0.0:1.0:0.0:0.0	.	39;39	Q13469;B5B2N8	NFAC2_HUMAN;.	F	39	ENSP00000360619:L39F;ENSP00000379330:L39F	ENSP00000360619:L39F	L	-	3	2	NFATC2	49592329	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	2.461000	0.45040	2.020000	0.59435	0.455000	0.32223	TTG		0.672	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		13	43	0	0	0	1	0	13	43				
ZNF99	7652	broad.mit.edu	37	19	22941413	22941413	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr19:22941413G>T	ENST00000596209.1	-	4	1388	c.1298C>A	c.(1297-1299)gCt>gAt	p.A433D	ZNF99_ENST00000397104.3_Missense_Mutation_p.A342D	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	433					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(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ACGCTTAAAAGCTTTGCCACA	0.363																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(1024-1026)gCt>gAt		zinc finger protein 99							54.0	56.0	56.0					19																	22941413		2039	4219	6258	SO:0001583	missense	7652							g.chr19:22941413G>T	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1298C>A	19.37:g.22941413G>T	ENSP00000472969:p.Ala433Asp					ZNF99_ENST00000596209.1_Missense_Mutation_p.A433D	p.A342D							5	1024	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1025C>A	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	10.83	1.462496	0.26248	.	.	ENSG00000213973	ENST00000397104	T	0.17213	2.29	1.28	-1.38	0.09027	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25494	0.0620	L	0.49699	1.58	0.09310	N	1	D	0.63880	0.993	D	0.64776	0.929	T	0.14699	-1.0463	9	0.72032	D	0.01	.	2.6621	0.05029	0.4174:0.2621:0.3205:0.0	.	342	A8MXY4	ZNF99_HUMAN	D	342	ENSP00000380293:A342D	ENSP00000380293:A342D	A	-	2	0	ZNF99	22733253	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.091000	0.03369	-0.133000	0.11537	-0.512000	0.04463	GCT		0.363	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		30	34	1	0	4.74835e-14	1	5.14405e-14	30	34				
ZNF175	7728	broad.mit.edu	37	19	52091455	52091455	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr19:52091455T>C	ENST00000262259.2	+	5	2229	c.1871T>C	c.(1870-1872)tTt>tCt	p.F624S	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	624					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GGGAAGGCTTTTGTCCAGAAA	0.423																																						ENST00000262259.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1870-1872)tTt>tCt		zinc finger protein 175							122.0	131.0	128.0					19																	52091455		2203	4300	6503	SO:0001583	missense	7728				response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:52091455T>C	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.1871T>C	19.37:g.52091455T>C	ENSP00000262259:p.Phe624Ser					ZNF175_ENST00000436511.2_Intron	p.F624S	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)	5	2229	+		all_neural(266;0.0299)	624					A8K9H2	Missense_Mutation	SNP	ENST00000262259.2	37	c.1871T>C	CCDS12837.1	.	.	.	.	.	.	.	.	.	.	T	8.063	0.768638	0.15983	.	.	ENSG00000105497	ENST00000262259	T	0.44482	0.92	2.25	2.25	0.28309	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.64713	0.2623	M	0.91406	3.205	0.80722	D	1	D	0.58268	0.982	D	0.63033	0.91	T	0.69723	-0.5068	9	0.87932	D	0	.	8.4065	0.32619	0.0:0.0:0.0:1.0	.	624	Q9Y473	ZN175_HUMAN	S	624	ENSP00000262259:F624S	ENSP00000262259:F624S	F	+	2	0	ZNF175	56783267	0.974000	0.33945	0.003000	0.11579	0.168000	0.22595	2.316000	0.43761	1.296000	0.44742	0.533000	0.62120	TTT		0.423	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		24	86	0	0	0	1	0	24	86				
DCANP1	140947	broad.mit.edu	37	5	134782426	134782426	+	Missense_Mutation	SNP	G	G	A	rs560339780		TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr5:134782426G>A	ENST00000503143.2	-	1	612	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN		125						nucleus (GO:0005634)				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCTCCCTCCCGCCTGGTCTGG	0.552																																						ENST00000503143.2																			0				endometrium(1)|lung(1)|prostate(1)	3						c.(373-375)Cgg>Tgg		chromosome 5 open reading frame 20							117.0	126.0	123.0					5																	134782426		2203	4300	6503	SO:0001583	missense	140947					nucleus		g.chr5:134782426G>A																												ENST00000503143.2:c.373C>T	5.37:g.134782426G>A	ENSP00000421871:p.Arg125Trp					TIFAB_ENST00000537858.1_3'UTR	p.R125W	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	612	-			125						Missense_Mutation	SNP	ENST00000503143.2	37	c.373C>T	CCDS4186.1	.	.	.	.	.	.	.	.	.	.	G	4.624	0.116078	0.08831	.	.	ENSG00000251380	ENST00000503143	T	0.40756	1.02	2.78	-2.67	0.06059	.	.	.	.	.	T	0.18676	0.0448	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15780	-1.0425	9	0.87932	D	0	.	3.4735	0.07575	0.5189:0.0:0.2802:0.2009	.	125	Q8TF63	DCNP1_HUMAN	W	125	ENSP00000421871:R125W	ENSP00000421871:R125W	R	-	1	2	C5orf20	134810325	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.839000	0.04368	-0.745000	0.04772	-0.424000	0.05967	CGG		0.552	C5orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372531.1			54	91	0	0	0	1	0	54	91				
OTUB2	78990	broad.mit.edu	37	14	94503790	94503790	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr14:94503790C>T	ENST00000203664.5	+	2	277	c.68C>T	c.(67-69)cCt>cTt	p.P23L	OTUB2_ENST00000553723.1_Missense_Mutation_p.P23L	NM_023112.3	NP_075601.1	Q96DC9	OTUB2_HUMAN	OTU deubiquitinase, ubiquitin aldehyde binding 2	23					cellular amino acid metabolic process (GO:0006520)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5		all_cancers(154;0.12)		Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215)		CGGGACCATCCTGAAAACAGG	0.438											OREG0022890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000203664.5																			0				kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5						c.(67-69)cCt>cTt		OTU domain, ubiquitin aldehyde binding 2							68.0	68.0	68.0					14																	94503790		2203	4300	6503	SO:0001583	missense	78990				cellular amino acid metabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination		omega peptidase activity|protein binding|ubiquitin-specific protease activity	g.chr14:94503790C>T	AF318378	CCDS9917.1	14q32.13-q32.2	2014-02-24	2014-02-24	2004-05-28		ENSG00000089723		"""OTU domain containing"""	20351	protein-coding gene	gene with protein product		608338	"""chromosome 14 open reading frame 137"", ""OTU domain, ubiquitin aldehyde binding 2"""	C14orf137		12704427, 19996094	Standard	NM_023112		Approved	FLJ21916, MGC3102	uc001ych.4	Q96DC9		ENST00000203664.5:c.68C>T	14.37:g.94503790C>T	ENSP00000203664:p.Pro23Leu		OREG0022890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	163	OTUB2_ENST00000553723.1_Missense_Mutation_p.P23L	p.P23L	NM_023112.3	NP_075601.1	Q96DC9	OTUB2_HUMAN		Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215)	2	277	+		all_cancers(154;0.12)	23					Q6IA10|Q9H6T1	Missense_Mutation	SNP	ENST00000203664.5	37	c.68C>T	CCDS9917.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.486538	0.44249	.	.	ENSG00000089723	ENST00000203664;ENST00000553723	T;T	0.39229	1.09;1.09	5.77	4.88	0.63580	.	0.224065	0.40640	N	0.001041	T	0.29684	0.0741	N	0.25201	0.72	0.47094	D	0.99931	B	0.24317	0.101	B	0.23150	0.044	T	0.06789	-1.0807	10	0.33141	T	0.24	-0.3216	12.8966	0.58104	0.0:0.9213:0.0:0.0787	.	23	Q96DC9	OTUB2_HUMAN	L	23	ENSP00000203664:P23L;ENSP00000451283:P23L	ENSP00000203664:P23L	P	+	2	0	OTUB2	93573543	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.150000	0.58098	1.586000	0.49944	-0.136000	0.14681	CCT		0.438	OTUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412855.1			37	36	0	0	0	1	0	37	36				
CMYA5	202333	broad.mit.edu	37	5	79034604	79034604	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr5:79034604C>T	ENST00000446378.2	+	2	10047	c.10016C>T	c.(10015-10017)gCg>gTg	p.A3339V		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3339					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ATAAGTTATGCGGTTCCATTT	0.483																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(10015-10017)gCg>gTg		cardiomyopathy associated 5							60.0	64.0	63.0					5																	79034604		2079	4213	6292	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79034604C>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.10016C>T	5.37:g.79034604C>T	ENSP00000394770:p.Ala3339Val						p.A3339V	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	10047	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	3339					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.10016C>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.818145	0.50633	.	.	ENSG00000164309	ENST00000446378	T	0.50001	0.76	5.93	5.07	0.68467	.	0.115022	0.39475	N	0.001341	T	0.46014	0.1371	M	0.69823	2.125	0.42388	D	0.992512	D	0.62365	0.991	B	0.41174	0.349	T	0.55159	-0.8184	10	0.87932	D	0	.	9.7468	0.40451	0.0:0.7846:0.1405:0.0749	.	3339	Q8N3K9	CMYA5_HUMAN	V	3339	ENSP00000394770:A3339V	ENSP00000394770:A3339V	A	+	2	0	CMYA5	79070360	0.036000	0.19791	0.901000	0.35422	0.572000	0.35998	0.217000	0.17603	1.535000	0.49220	0.655000	0.94253	GCG		0.483	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		20	30	0	0	0	1	0	20	30				
DNAH17	8632	broad.mit.edu	37	17	76464785	76464785	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr17:76464785G>A	ENST00000585328.1	-	55	8801	c.8677C>T	c.(8677-8679)Cga>Tga	p.R2893*	DNAH17_ENST00000389840.5_Nonsense_Mutation_p.R2884*|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2884	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACTTGGGGTCGCATGGAGGAG	0.542																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(8650-8652)Cga>Tga		dynein, axonemal, heavy chain 17							80.0	82.0	81.0					17																	76464785		2002	4176	6178	SO:0001587	stop_gained	8632							g.chr17:76464785G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.8677C>T	17.37:g.76464785G>A	ENSP00000465516:p.Arg2893*					DNAH17_ENST00000585328.1_Nonsense_Mutation_p.R2893*|DNAH17_ENST00000586052.1_5'UTR	p.R2884*					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		55	8774	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Nonsense_Mutation	SNP	ENST00000585328.1	37	c.8650C>T		.	.	.	.	.	.	.	.	.	.	G	50	17.205650	0.99881	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	.	.	.	4.84	3.81	0.43845	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.6707	0.23066	0.0:0.1283:0.5307:0.3409	.	.	.	.	X	2893;2884	.	ENSP00000300671:R2893X	R	-	1	2	DNAH17	73976380	0.999000	0.42202	1.000000	0.80357	0.787000	0.44495	1.150000	0.31639	2.246000	0.74042	0.650000	0.86243	CGA		0.542	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		17	70	0	0	0	1	0	17	70				
VRTN	55237	broad.mit.edu	37	14	74824505	74824505	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr14:74824505C>T	ENST00000256362.4	+	2	1260	c.1019C>T	c.(1018-1020)cCg>cTg	p.P340L		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	340					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CAGCGGTTCCCGGAGATCTCC	0.662																																						ENST00000256362.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(1018-1020)cCg>cTg		vertebrae development associated							50.0	54.0	53.0					14																	74824505		2203	4300	6503	SO:0001583	missense	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74824505C>T	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1019C>T	14.37:g.74824505C>T	ENSP00000256362:p.Pro340Leu						p.P340L	NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN			2	1260	+			340					Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	c.1019C>T	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483311	0.63962	.	.	ENSG00000133980	ENST00000256362	D	0.84800	-1.9	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.88599	0.6480	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89846	0.4006	10	0.87932	D	0	-5.4683	16.6804	0.85290	0.0:1.0:0.0:0.0	.	340	Q9H8Y1	VRTN_HUMAN	L	340	ENSP00000256362:P340L	ENSP00000256362:P340L	P	+	2	0	VRTN	73894258	1.000000	0.71417	0.981000	0.43875	0.320000	0.28249	6.940000	0.75917	2.602000	0.87976	0.561000	0.74099	CCG		0.662	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		29	37	0	0	0	1	0	29	37				
ANKRD36	375248	broad.mit.edu	37	2	97869979	97869979	+	Missense_Mutation	SNP	G	G	T	rs111515821		TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr2:97869979G>T	ENST00000461153.2	+	50	3284	c.3040G>T	c.(3040-3042)Gat>Tat	p.D1014Y	ANKRD36_ENST00000420699.2_Missense_Mutation_p.D1014Y			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1014								p.D1014Y(5)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						AGGAAAAAAGGATGGAGAAAA	0.328																																						ENST00000420699.2																			5	Substitution - Missense(5)	p.D1014Y(5)	endometrium(2)|skin(2)|kidney(1)	endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(3040-3042)Gat>Tat		ankyrin repeat domain 36							29.0	35.0	33.0					2																	97869979		692	1589	2281	SO:0001583	missense	375248							g.chr2:97869979G>T	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.3040G>T	2.37:g.97869979G>T	ENSP00000419530:p.Asp1014Tyr					ANKRD36_ENST00000461153.2_Missense_Mutation_p.D1014Y	p.D1014Y	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			50	3284	+			1014					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.3040G>T	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	2.724	-0.265945	0.05754	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.76578	-1.03;-1.03	0.63	0.63	0.17693	.	.	.	.	.	T	0.79287	0.4420	L	0.38175	1.15	0.09310	N	1	D	0.71674	0.998	D	0.69654	0.965	T	0.66440	-0.5923	8	0.52906	T	0.07	.	.	.	.	.	1014	A6QL64	AN36A_HUMAN	Y	1014;1014;376	ENSP00000419530:D1014Y;ENSP00000391950:D1014Y	ENSP00000391950:D1014Y	D	+	1	0	ANKRD36	97233706	0.010000	0.17322	0.018000	0.16275	0.005000	0.04900	0.408000	0.21065	0.612000	0.30071	0.175000	0.17021	GAT		0.328	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			4	23	1	0	0.00909568	1	0.0092378	4	23				
FLG	2312	broad.mit.edu	37	1	152281630	152281630	+	Missense_Mutation	SNP	C	C	A			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr1:152281630C>A	ENST00000368799.1	-	3	5767	c.5732G>T	c.(5731-5733)aGc>aTc	p.S1911I	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1911	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGTTCCTGCTTGTCCTGGG	0.582									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(5731-5733)aGc>aTc		filaggrin							238.0	239.0	239.0					1																	152281630		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281630C>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5732G>T	1.37:g.152281630C>A	ENSP00000357789:p.Ser1911Ile					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S1911I	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5767	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1911			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5732G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.244705	0.22796	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.09538	2.97	3.45	0.359	0.16088	.	.	.	.	.	T	0.13457	0.0326	M	0.79123	2.44	0.09310	N	1	D	0.67145	0.996	D	0.77557	0.99	T	0.06643	-1.0815	9	0.66056	D	0.02	0.1358	2.8696	0.05613	0.2185:0.5313:0.0:0.2501	.	1911	P20930	FILA_HUMAN	I	1911;146	ENSP00000357789:S1911I	ENSP00000271820:S146I	S	-	2	0	FLG	150548254	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.318000	0.02705	-0.011000	0.14247	0.586000	0.80456	AGC		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		6	296	1	0	4.096e-09	1	4.36459e-09	6	296				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		5	45	0	0	0	1	0	5	45				
ZFX	7543	broad.mit.edu	37	X	24197760	24197760	+	Silent	SNP	C	C	T			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chrX:24197760C>T	ENST00000379177.1	+	6	946	c.519C>T	c.(517-519)acC>acT	p.T173T	ZFX_ENST00000459724.1_Intron|ZFX_ENST00000338565.3_Silent_p.T173T|ZFX_ENST00000379188.3_Silent_p.T173T|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000304543.5_Silent_p.T173T|ZFX_ENST00000540034.1_Silent_p.T212T	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	173					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CTCTGACTACCGACGTAGTTT	0.463																																					Esophageal Squamous(20;306 562 7346 32868 37983)	ENST00000379177.1																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						c.(517-519)acC>acT		zinc finger protein, X-linked							207.0	169.0	182.0					X																	24197760		2203	4300	6503	SO:0001819	synonymous_variant	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24197760C>T		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.519C>T	X.37:g.24197760C>T						ZFX_ENST00000379188.3_Silent_p.T173T|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000304543.5_Silent_p.T173T|ZFX_ENST00000540034.1_Silent_p.T212T|ZFX_ENST00000338565.3_Silent_p.T173T	p.T173T	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN			6	946	+			173					B9EG97|O43668|Q8WYJ8	Silent	SNP	ENST00000379177.1	37	c.519C>T	CCDS14211.1																																																																																				0.463	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		7	96	0	0	0	1	0	7	96				
WDR63	126820	broad.mit.edu	37	1	85559315	85559315	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr1:85559315G>C	ENST00000294664.6	+	9	1212	c.1032G>C	c.(1030-1032)tgG>tgC	p.W344C	WDR63_ENST00000326813.8_Missense_Mutation_p.W305C|WDR63_ENST00000370596.1_Missense_Mutation_p.W305C	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	344										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		GTGTCTCATGGCATCCAACTA	0.423																																						ENST00000294664.6																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36						c.(1030-1032)tgG>tgC		WD repeat domain 63							158.0	148.0	152.0					1																	85559315		2203	4300	6503	SO:0001583	missense	126820							g.chr1:85559315G>C		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.1032G>C	1.37:g.85559315G>C	ENSP00000294664:p.Trp344Cys					WDR63_ENST00000326813.8_Missense_Mutation_p.W305C|WDR63_ENST00000370596.1_Missense_Mutation_p.W305C	p.W344C	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	9	1212	+			344					A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	c.1032G>C	CCDS702.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152224	0.57259	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664	T;T;T	0.65549	-0.16;-0.16;-0.16	5.96	5.96	0.96718	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.82323	0.5012	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.84164	0.0430	10	0.66056	D	0.02	-1.0194	20.4043	0.99006	0.0:0.0:1.0:0.0	.	305;344	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	C	305;305;344	ENSP00000359628:W305C;ENSP00000317463:W305C;ENSP00000294664:W344C	ENSP00000294664:W344C	W	+	3	0	WDR63	85331903	1.000000	0.71417	1.000000	0.80357	0.303000	0.27691	8.964000	0.93389	2.823000	0.97156	0.650000	0.86243	TGG		0.423	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172		8	45	0	0	0	1	0	8	45				
SELE	6401	broad.mit.edu	37	1	169698443	169698443	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr1:169698443A>G	ENST00000333360.7	-	7	1113	c.974T>C	c.(973-975)tTc>tCc	p.F325S	SELE_ENST00000367780.4_Missense_Mutation_p.F263S|SELE_ENST00000367774.1_Missense_Mutation_p.F325S|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.F325S|SELE_ENST00000367782.4_Missense_Mutation_p.F325S|SELE_ENST00000367777.1_Missense_Mutation_p.F325S|SELE_ENST00000367779.4_Missense_Mutation_p.F325S|SELE_ENST00000367776.1_Missense_Mutation_p.F325S|SELE_ENST00000367775.1_Missense_Mutation_p.F263S	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	325	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	TTTGAAGGTGAACTCTCCAGC	0.527																																						ENST00000333360.7																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(973-975)tTc>tCc		selectin E							78.0	68.0	71.0					1																	169698443		2203	4300	6503	SO:0001583	missense	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169698443A>G	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.974T>C	1.37:g.169698443A>G	ENSP00000331736:p.Phe325Ser					SELE_ENST00000367782.4_Missense_Mutation_p.F325S|SELE_ENST00000367775.1_Missense_Mutation_p.F263S|SELE_ENST00000367779.4_Missense_Mutation_p.F325S|SELE_ENST00000367780.4_Missense_Mutation_p.F263S|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.F325S|SELE_ENST00000367777.1_Missense_Mutation_p.F325S|SELE_ENST00000367774.1_Missense_Mutation_p.F325S|SELE_ENST00000367776.1_Missense_Mutation_p.F325S	p.F325S	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN			7	1113	-	all_hematologic(923;0.208)		325			Sushi 3.		A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	c.974T>C	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.888149	0.33348	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	T;T;T;T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4	4.93	4.93	0.64822	Complement control module (2);Sushi/SCR/CCP (3);	0.382987	0.19278	N	0.118221	T	0.75831	0.3903	M	0.83953	2.67	0.09310	N	1	D	0.67145	0.996	D	0.72982	0.979	T	0.70880	-0.4752	10	0.72032	D	0.01	-7.2588	12.5611	0.56281	1.0:0.0:0.0:0.0	.	325	P16581	LYAM2_HUMAN	S	325;325;263;325;325;325;263;325;325	ENSP00000356755:F325S;ENSP00000356756:F325S;ENSP00000356754:F263S;ENSP00000356753:F325S;ENSP00000331736:F325S;ENSP00000356751:F325S;ENSP00000356749:F263S;ENSP00000356750:F325S;ENSP00000356748:F325S	ENSP00000331736:F325S	F	-	2	0	SELE	167965067	0.008000	0.16893	0.002000	0.10522	0.038000	0.13279	2.390000	0.44416	1.843000	0.53566	0.528000	0.53228	TTC		0.527	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		7	31	0	0	0	1	0	7	31				
FMO4	2329	broad.mit.edu	37	1	171302046	171302046	+	Splice_Site	SNP	G	G	A			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr1:171302046G>A	ENST00000367749.3	+	7	1156	c.826G>A	c.(826-828)Ggg>Agg	p.G276R	FMO4_ENST00000462992.1_3'UTR	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	276					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TATTACCAAAGGGTACTTACA	0.254																																					Pancreas(24;816 862 7754 7993 32832)	ENST00000367749.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.e7+1		flavin containing monooxygenase 4							45.0	46.0	46.0					1																	171302046		2202	4300	6502	SO:0001630	splice_region_variant	2329				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171302046G>A	BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.827+1G>A	1.37:g.171302046G>A						FMO4_ENST00000462992.1_3'UTR	p.G276_splice	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN			7	1156	+	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		276					Q53XR0	Splice_Site	SNP	ENST00000367749.3	37	c.827_splice	CCDS1295.1	.	.	.	.	.	.	.	.	.	.	G	6.937	0.542552	0.13250	.	.	ENSG00000076258	ENST00000367749	T	0.49720	0.77	5.63	5.63	0.86233	.	0.551987	0.22096	N	0.064691	T	0.26340	0.0643	M	0.66506	2.035	0.36866	D	0.888651	B	0.14438	0.01	B	0.14023	0.01	T	0.10823	-1.0613	10	0.18276	T	0.48	-16.4679	8.0784	0.30731	0.1916:0.0:0.8084:0.0	.	276	P31512	FMO4_HUMAN	R	276	ENSP00000356723:G276R	ENSP00000356723:G276R	G	+	1	0	FMO4	169568670	1.000000	0.71417	0.970000	0.41538	0.347000	0.29111	3.201000	0.51059	2.798000	0.96311	0.655000	0.94253	GGG		0.254	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086223.1	NM_002022	Missense_Mutation	21	19	0	0	0	1	0	21	19				
MCM9	254394	broad.mit.edu	37	6	119238864	119238864	+	Missense_Mutation	SNP	G	G	A	rs142688993	byFrequency	TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr6:119238864G>A	ENST00000316316.6	-	5	1052	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C	MCM9_ENST00000316068.3_Missense_Mutation_p.R256C	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	256					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)	MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		ACTTCACAGCGCACATCTTGC	0.453																																						ENST00000316316.6																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(766-768)Cgc>Tgc		minichromosome maintenance complex component 9		G	CYS/ARG,CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	131.0	115.0	121.0		766,766	5.8	1.0	6	dbSNP_134	121	0,8600		0,0,4300	no	missense,missense	MCM9	NM_017696.2,NM_153255.4	180,180	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging	256/1144,256/392	119238864	2,13004	2203	4300	6503	SO:0001583	missense	254394				DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr6:119238864G>A	BC031658	CCDS5121.1, CCDS56447.1	6q22.31	2009-11-16	2007-04-04	2007-04-04	ENSG00000111877	ENSG00000111877			21484	protein-coding gene	gene with protein product		610098	"""minichromosome maintenance deficient domain containing 1"", ""chromosome 6 open reading frame 61"""	MCMDC1, C6orf61		16226853, 15850810, 16495042	Standard	NM_153255		Approved	MGC35304, dJ329L24.3, FLJ20170	uc021zeh.1	Q9NXL9	OTTHUMG00000015468	ENST00000316316.6:c.766C>T	6.37:g.119238864G>A	ENSP00000314505:p.Arg256Cys					MCM9_ENST00000316068.3_Missense_Mutation_p.R256C	p.R256C	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)	5	1052	-		all_cancers(87;0.122)|all_epithelial(87;0.179)	256					B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5	Missense_Mutation	SNP	ENST00000316316.6	37	c.766C>T	CCDS56447.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465131	0.84425	4.54E-4	0.0	ENSG00000111877	ENST00000316316;ENST00000316068	T;T	0.04706	3.57;3.57	5.85	5.85	0.93711	.	.	.	.	.	T	0.08133	0.0203	M	0.89904	3.07	0.80722	D	1	P	0.49559	0.925	B	0.39119	0.291	T	0.19712	-1.0297	9	0.48119	T	0.1	.	20.1731	0.98165	0.0:0.0:1.0:0.0	.	256	Q9NXL9-2	.	C	256	ENSP00000314505:R256C;ENSP00000312870:R256C	ENSP00000312870:R256C	R	-	1	0	MCM9	119280563	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.199000	0.72112	2.768000	0.95171	0.655000	0.94253	CGC		0.453	MCM9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042005.4	NM_153255		35	95	0	0	0	1	0	35	95				
BHLHB9	80823	broad.mit.edu	37	X	102004758	102004758	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chrX:102004758C>T	ENST00000372735.1	+	4	1420	c.835C>T	c.(835-837)Cct>Tct	p.P279S	BHLHB9_ENST00000448867.1_Missense_Mutation_p.P279S|BHLHB9_ENST00000457056.1_Missense_Mutation_p.P279S|BHLHB9_ENST00000447531.1_Missense_Mutation_p.P279S|BHLHB9_ENST00000361229.4_Missense_Mutation_p.P279S			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	279					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACAGCCTATCCCTGAGTGTCG	0.483																																						ENST00000372735.1																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(835-837)Cct>Tct		basic helix-loop-helix domain containing, class B, 9							75.0	67.0	70.0					X																	102004758		2203	4300	6503	SO:0001583	missense	80823					cytoplasm|nucleus	binding	g.chrX:102004758C>T	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.835C>T	X.37:g.102004758C>T	ENSP00000361820:p.Pro279Ser					BHLHB9_ENST00000361229.4_Missense_Mutation_p.P279S|BHLHB9_ENST00000448867.1_Missense_Mutation_p.P279S|BHLHB9_ENST00000447531.1_Missense_Mutation_p.P279S|BHLHB9_ENST00000457056.1_Missense_Mutation_p.P279S	p.P279S			Q6PI77	BHLH9_HUMAN			4	1420	+			279					Q9C0G2	Missense_Mutation	SNP	ENST00000372735.1	37	c.835C>T	CCDS14502.1	.	.	.	.	.	.	.	.	.	.	C	0.577	-0.838713	0.02692	.	.	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19	4.47	0.411	0.16392	.	1.012730	0.07924	N	0.976348	T	0.17023	0.0409	L	0.51422	1.61	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.34378	-0.9831	9	.	.	.	-2.5736	3.9505	0.09368	0.0:0.461:0.1915:0.3476	.	279	Q6PI77	BHLH9_HUMAN	S	279	ENSP00000403226:P279S;ENSP00000354675:P279S;ENSP00000405893:P279S;ENSP00000391722:P279S;ENSP00000361820:P279S	.	P	+	1	0	BHLHB9	101891414	0.043000	0.20138	0.001000	0.08648	0.007000	0.05969	0.403000	0.20982	-0.070000	0.12908	-0.191000	0.12829	CCT		0.483	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		54	63	0	0	0	1	0	54	63				
MUC16	94025	broad.mit.edu	37	19	9073357	9073357	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr19:9073357C>G	ENST00000397910.4	-	3	14292	c.14089G>C	c.(14089-14091)Gac>Cac	p.D4697H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4699	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)		p.D4697Y(2)|p.D330Y(1)		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						GTTGATGTGTCTAAGGCAAGT	0.473																																						ENST00000397910.4																			3	Substitution - Missense(3)	p.D4697Y(2)|p.D330Y(1)	large_intestine(3)	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						c.(14089-14091)Gac>Cac		mucin 16, cell surface associated							184.0	172.0	176.0					19																	9073357		1945	4149	6094	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9073357C>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.14089G>C	19.37:g.9073357C>G	ENSP00000381008:p.Asp4697His						p.D4697H	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	14292	-			4699			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.14089G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	6.721	0.501776	0.12822	.	.	ENSG00000181143	ENST00000397910	T	0.24151	1.87	1.8	-0.635	0.11512	.	.	.	.	.	T	0.25865	0.0630	L	0.39898	1.24	.	.	.	D	0.71674	0.998	P	0.54238	0.746	T	0.28996	-1.0026	8	0.87932	D	0	.	2.1919	0.03901	0.3045:0.4965:0.0:0.1991	.	4697	B5ME49	.	H	4697	ENSP00000381008:D4697H	ENSP00000381008:D4697H	D	-	1	0	MUC16	8934357	0.000000	0.05858	0.000000	0.03702	0.578000	0.36192	0.167000	0.16602	-0.093000	0.12396	0.313000	0.20887	GAC		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		6	109	0	0	0	1	0	6	109				
F8	2157	broad.mit.edu	37	X	154157391	154157391	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chrX:154157391G>C	ENST00000360256.4	-	14	4874	c.4674C>G	c.(4672-4674)aaC>aaG	p.N1558K		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1558	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTCCAGGTCTGTTTGCTTCAT	0.493																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(4672-4674)aaC>aaG		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						136.0	133.0	134.0					X																	154157391		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154157391G>C	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4674C>G	X.37:g.154157391G>C	ENSP00000353393:p.Asn1558Lys						p.N1558K	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	4874	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1558			B.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.4674C>G	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	g	0	-2.645528	0.00111	.	.	ENSG00000185010	ENST00000360256	D	0.99014	-5.33	5.32	-9.83	0.00482	.	1.012530	0.07888	N	0.970641	D	0.96281	0.8787	L	0.55103	1.725	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	D	0.87440	0.2394	10	0.27082	T	0.32	-1.1243	8.9475	0.35767	0.2961:0.2265:0.4774:0.0	.	1558	P00451	FA8_HUMAN	K	1558	ENSP00000353393:N1558K	ENSP00000353393:N1558K	N	-	3	2	F8	153810585	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.365000	0.07573	-1.663000	0.01481	-1.364000	0.01208	AAC		0.493	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			37	154	0	0	0	1	0	37	154				
WNK1	65125	broad.mit.edu	37	12	992630	992630	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr12:992630A>G	ENST00000315939.6	+	16	4202	c.3559A>G	c.(3559-3561)Aaa>Gaa	p.K1187E	WNK1_ENST00000537687.1_Missense_Mutation_p.K1447E|WNK1_ENST00000535572.1_Missense_Mutation_p.K940E|WNK1_ENST00000530271.2_Missense_Mutation_p.K1685E|WNK1_ENST00000340908.4_Missense_Mutation_p.K780E	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1187					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AATTATTGAAAAAGCTGATGA	0.403																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(4339-4341)Aaa>Gaa		WNK lysine deficient protein kinase 1							135.0	141.0	139.0					12																	992630		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:992630A>G	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.3559A>G	12.37:g.992630A>G	ENSP00000313059:p.Lys1187Glu					WNK1_ENST00000315939.6_Missense_Mutation_p.K1187E|WNK1_ENST00000340908.4_Missense_Mutation_p.K780E|WNK1_ENST00000535572.1_Missense_Mutation_p.K940E|WNK1_ENST00000530271.2_Missense_Mutation_p.K1685E	p.K1447E	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		16	4982	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1187					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.4339A>G	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.465517	0.84425	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908;ENST00000534872	T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000002	T	0.47507	0.1449	L	0.43923	1.385	0.45995	D	0.998803	D;D;D	0.60575	0.988;0.988;0.979	P;P;P	0.56216	0.794;0.794;0.628	T	0.48163	-0.9059	10	0.87932	D	0	-14.8375	15.9573	0.79896	1.0:0.0:0.0:0.0	.	940;940;1187	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	E	940;1187;1447;360;1685;780;87	ENSP00000441972:K940E;ENSP00000313059:K1187E;ENSP00000444465:K1447E;ENSP00000433548:K1685E;ENSP00000341292:K780E;ENSP00000446253:K87E	ENSP00000252477:K360E	K	+	1	0	WNK1	862891	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.156000	0.67533	0.528000	0.53228	AAA		0.403	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		4	69	0	0	0	1	0	4	69				
VPS41	27072	broad.mit.edu	37	7	38805189	38805189	+	Silent	SNP	T	T	C			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr7:38805189T>C	ENST00000310301.4	-	16	1374	c.1320A>G	c.(1318-1320)ggA>ggG	p.G440G	VPS41_ENST00000395969.2_Silent_p.G415G	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	440					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CCTTAAGCTGTCCAATTTCTT	0.338																																						ENST00000310301.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						c.(1318-1320)ggA>ggG		vacuolar protein sorting 41 homolog (S. cerevisiae)							61.0	63.0	62.0					7																	38805189		2203	4299	6502	SO:0001819	synonymous_variant	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38805189T>C	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.1320A>G	7.37:g.38805189T>C						VPS41_ENST00000395969.2_Silent_p.G415G	p.G440G	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN			16	1374	-			440					E9PF36|Q86TP8|Q99851|Q99852	Silent	SNP	ENST00000310301.4	37	c.1320A>G	CCDS5457.1																																																																																				0.338	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3			9	58	0	0	0	1	0	9	58				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			27	45	0	0	0	1	0	27	45				
SMARCA4	6597	broad.mit.edu	37	19	11138480	11138480	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr19:11138480C>T	ENST00000429416.3	+	25	3517	c.3236C>T	c.(3235-3237)tCg>tTg	p.S1079L	SMARCA4_ENST00000450717.3_Missense_Mutation_p.S1079L|SMARCA4_ENST00000444061.3_Missense_Mutation_p.S1079L|SMARCA4_ENST00000590574.1_Missense_Mutation_p.S1079L|SMARCA4_ENST00000344626.4_Missense_Mutation_p.S1079L|SMARCA4_ENST00000589677.1_Missense_Mutation_p.S1079L|SMARCA4_ENST00000413806.3_Missense_Mutation_p.S1079L|SMARCA4_ENST00000358026.2_Missense_Mutation_p.S1079L|SMARCA4_ENST00000541122.2_Missense_Mutation_p.S1079L	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1079					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(2)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TACCGAGCCTCGGGTAAATTT	0.532			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		2	Unknown(2)	p.?(2)	lung(2)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(3235-3237)tCg>tTg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							88.0	92.0	91.0					19																	11138480		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11138480C>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3236C>T	19.37:g.11138480C>T	ENSP00000395654:p.Ser1079Leu					SMARCA4_ENST00000590574.1_Missense_Mutation_p.S1079L|SMARCA4_ENST00000589677.1_Missense_Mutation_p.S1079L|SMARCA4_ENST00000541122.2_Missense_Mutation_p.S1079L|SMARCA4_ENST00000450717.3_Missense_Mutation_p.S1079L|SMARCA4_ENST00000413806.3_Missense_Mutation_p.S1079L|SMARCA4_ENST00000444061.3_Missense_Mutation_p.S1079L|SMARCA4_ENST00000429416.3_Missense_Mutation_p.S1079L|SMARCA4_ENST00000344626.4_Missense_Mutation_p.S1079L	p.S1079L	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			24	3520	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1079					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.3236C>T	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	32	5.186085	0.94885	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.91991	0.7463	H	0.97023	3.925	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.997;0.997;0.997;0.997;1.0;1.0;0.997;0.997	D;D;D;D;D;D;D;D	0.70716	0.914;0.914;0.914;0.914;0.97;0.955;0.914;0.914	D	0.94474	0.7687	10	0.87932	D	0	-15.1767	17.3259	0.87246	0.0:1.0:0.0:0.0	.	1079;1079;1079;1079;1079;299;1079;1079	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	L	1079;1079;1143;1079;1079;1079;1079;1079	ENSP00000395654:S1079L;ENSP00000350720:S1079L;ENSP00000343896:S1079L;ENSP00000445036:S1079L;ENSP00000392837:S1079L;ENSP00000397783:S1079L;ENSP00000414727:S1079L	ENSP00000343896:S1079L	S	+	2	0	SMARCA4	10999480	1.000000	0.71417	0.992000	0.48379	0.989000	0.77384	7.367000	0.79558	2.617000	0.88574	0.655000	0.94253	TCG		0.532	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		60	59	0	0	0	1	0	60	59				
SDAD1P1	157489	broad.mit.edu	37	8	26237207	26237207	+	RNA	SNP	A	A	G			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr8:26237207A>G	ENST00000519902.1	-	0	2741									SDA1 domain containing 1 pseudogene 1																		TCGGCTCTTCATCACTGTCGA	0.448																																						ENST00000519902.1																			0																																																			0							g.chr8:26237207A>G			8p21.2	2010-11-24			ENSG00000228451	ENSG00000228451			31403	pseudogene	pseudogene							Standard	NG_006994		Approved				OTTHUMG00000163945		8.37:g.26237207A>G														0	2741	-									RNA	SNP	ENST00000519902.1	37																																																																																						0.448	SDAD1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000376512.1	NG_006994		8	35	0	0	0	1	0	8	35				
IKBKE	9641	broad.mit.edu	37	1	206653790	206653790	+	Splice_Site	SNP	G	G	A			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr1:206653790G>A	ENST00000367120.3	+	13	1714	c.1341G>A	c.(1339-1341)atG>atA	p.M447I	IKBKE_ENST00000537984.1_Splice_Site_p.M362I	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	447	Interaction with DDX3X.|Leucine-zipper.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CCTTGGACAGGGAGGTGCTCC	0.622																																						ENST00000367120.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32						c.e13-1		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon							88.0	63.0	72.0					1																	206653790		2203	4300	6503	SO:0001630	splice_region_variant	0				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr1:206653790G>A	AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.1341-1G>A	1.37:g.206653790G>A						IKBKE_ENST00000537984.1_Splice_Site_p.M362_splice|IKBKE_ENST00000462698.1_3'UTR	p.M447_splice	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN			13	1714	+	Breast(84;0.137)		447			Leucine-zipper.		D3DT78|Q3B754|Q3KR43|Q5JTS6	Splice_Site	SNP	ENST00000367120.3	37	c.1340_splice	CCDS30996.1	.	.	.	.	.	.	.	.	.	.	g	3.205	-0.162864	0.06502	.	.	ENSG00000143466	ENST00000367120;ENST00000537984	T;T	0.60672	0.17;0.32	4.73	3.81	0.43845	.	0.363911	0.31041	N	0.008365	T	0.26304	0.0642	N	0.01874	-0.695	0.40147	D	0.9769	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.07083	-1.0791	9	.	.	.	.	9.0943	0.36629	0.104:0.0:0.896:0.0	.	362;447	Q3B754;Q14164	.;IKKE_HUMAN	I	447;362	ENSP00000356087:M447I;ENSP00000444529:M362I	.	M	+	3	0	IKBKE	204720413	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	2.474000	0.45154	1.115000	0.41800	0.550000	0.68814	ATG		0.622	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1		Missense_Mutation	8	12	0	0	0	1	0	8	12				
ZFYVE1	53349	broad.mit.edu	37	14	73464558	73464558	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr14:73464558T>C	ENST00000556143.1	-	3	1669	c.949A>G	c.(949-951)Atc>Gtc	p.I317V	ZFYVE1_ENST00000318876.5_Missense_Mutation_p.I317V|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.I317V	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	317					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		TCATGGAAGATGATAACTGCA	0.537																																						ENST00000556143.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35						c.(949-951)Atc>Gtc		zinc finger, FYVE domain containing 1							63.0	55.0	58.0					14																	73464558		2203	4300	6503	SO:0001583	missense	53349					endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr14:73464558T>C	AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.949A>G	14.37:g.73464558T>C	ENSP00000450742:p.Ile317Val					ZFYVE1_ENST00000318876.5_Missense_Mutation_p.I317V|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.I317V	p.I317V	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)	3	1669	-		all_lung(585;1.33e-09)	317					J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	ENST00000556143.1	37	c.949A>G	CCDS9811.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.939167	0.52972	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143	T;T;T	0.65178	-0.14;-0.13;-0.13	5.81	5.81	0.92471	.	0.050299	0.85682	D	0.000000	T	0.63686	0.2532	L	0.46741	1.465	0.80722	D	1	P;B	0.38473	0.633;0.449	P;B	0.45119	0.47;0.2	T	0.61113	-0.7128	10	0.32370	T	0.25	-14.9162	16.1564	0.81670	0.0:0.0:0.0:1.0	.	317;317	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	V	317	ENSP00000452442:I317V;ENSP00000326921:I317V;ENSP00000450742:I317V	ENSP00000326921:I317V	I	-	1	0	ZFYVE1	72534311	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.017000	0.64047	2.228000	0.72767	0.477000	0.44152	ATC		0.537	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		14	21	0	0	0	1	0	14	21				
TPTE2	93492	broad.mit.edu	37	13	20056686	20056686	+	Splice_Site	SNP	T	T	C	rs201542496		TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr13:20056686T>C	ENST00000400230.2	-	4	165	c.121A>G	c.(121-123)Atg>Gtg	p.M41V	TPTE2_ENST00000382977.4_Splice_Site_p.M41V|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382978.1_Splice_Site_p.M41V|TPTE2_ENST00000382975.4_Splice_Site_p.M41V|TPTE2_ENST00000400103.2_Splice_Site_p.M41V|TPTE2_ENST00000457266.2_Splice_Site_p.M41V|TPTE2_ENST00000390680.2_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	41					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGTTCTAACATACTTTAGCCA	0.313																																						ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.e4-1		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							47.0	46.0	47.0					13																	20056686		2202	4298	6500	SO:0001630	splice_region_variant	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20056686T>C	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.120-1A>G	13.37:g.20056686T>C						TPTE2_ENST00000400103.2_Splice_Site_p.M41_splice|TPTE2_ENST00000457266.2_Splice_Site_p.M41_splice|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382977.4_Splice_Site_p.M41_splice|TPTE2_ENST00000382978.1_Splice_Site_p.M41_splice|TPTE2_ENST00000382975.4_Splice_Site_p.M41_splice|TPTE2_ENST00000255310.6_Intron	p.M41_splice			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	4	165	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	41					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Splice_Site	SNP	ENST00000400230.2	37	c.119_splice	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.805163	0.00075	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D	0.94376	-3.41;-3.33;-3.28;-3.28;-3.41;-3.33	2.06	0.838	0.18902	.	0.589765	0.15086	U	0.281346	D	0.83399	0.5246	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.68424	-0.5412	9	.	.	.	0.2742	3.9369	0.09310	0.0:0.1886:0.0:0.8114	.	41;41	A8MX64;Q6XPS3	.;TPTE2_HUMAN	V	41	ENSP00000372438:M41V;ENSP00000382974:M41V;ENSP00000383089:M41V;ENSP00000372437:M41V;ENSP00000372435:M41V;ENSP00000442218:M41V	.	M	-	1	0	TPTE2	18954686	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.105000	0.10907	0.235000	0.21160	0.383000	0.25322	ATG		0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254	Missense_Mutation	4	51	0	0	0	1	0	4	51				
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C	rs371810308	byFrequency	TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284													.|||	3	0.000599042	0.0	0.0	5008	,	,		16953	0.003		0.0	False		,,,				2504	0.0					ENST00000358970.5																			2	Substitution - Missense(2)	p.K507E(2)	urinary_tract(1)|prostate(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1519-1521)Aaa>Gaa		POTE ankyrin domain family, member C							164.0	115.0	130.0					18																	14513675		692	1590	2282	SO:0001583	missense	388468							g.chr18:14513675T>C	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1519A>G	18.37:g.14513675T>C	ENSP00000351856:p.Lys507Glu						p.K507E	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1518	-			507						Missense_Mutation	SNP	ENST00000358970.5	37	c.1519A>G	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.812128	0.00004	.	.	ENSG00000183206	ENST00000358970	T	0.32753	1.44	1.53	-3.07	0.05363	.	.	.	.	.	T	0.10165	0.0249	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31752	-0.9932	9	0.02654	T	1	.	3.0168	0.06063	0.0:0.3604:0.2511:0.3885	.	507	B2RU33	POTEC_HUMAN	E	507	ENSP00000351856:K507E	ENSP00000351856:K507E	K	-	1	0	POTEC	14503675	0.024000	0.19004	0.012000	0.15200	0.024000	0.10985	-0.021000	0.12504	-1.054000	0.03214	-3.018000	0.00074	AAA		0.284	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		4	129	0	0	0	1	0	4	129				
MUC5B	727897	broad.mit.edu	37	11	1269642	1269642	+	Silent	SNP	C	C	A			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr11:1269642C>A	ENST00000529681.1	+	31	11590	c.11532C>A	c.(11530-11532)acC>acA	p.T3844T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.T3847T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3844	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACCACAACCAGGGCCACCG	0.632																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(11539-11541)acC>acA		mucin 5B, oligomeric mucus/gel-forming							132.0	153.0	146.0					11																	1269642		2090	4184	6274	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1269642C>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11532C>A	11.37:g.1269642C>A						RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.T3844T	p.T3847T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	11599	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3844			11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.11541C>A	CCDS44515.2																																																																																				0.632	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		4	195	1	0	2.56e-06	1	2.68387e-06	4	195				
GAS6	2621	broad.mit.edu	37	13	114531573	114531573	+	Missense_Mutation	SNP	G	G	C	rs149411733		TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr13:114531573G>C	ENST00000327773.6	-	11	1401	c.1255C>G	c.(1255-1257)Ctg>Gtg	p.L419V	GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000355761.4_Missense_Mutation_p.L365V|GAS6_ENST00000357389.3_Missense_Mutation_p.L462V|GAS6_ENST00000450766.1_Missense_Mutation_p.L146V|GAS6_ENST00000418959.3_Missense_Mutation_p.L120V	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	462	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GTCAGGTTCAGATGATACAGT	0.577																																						ENST00000357389.3																			0				central_nervous_system(4)|ovary(1)	5						c.(1384-1386)Ctg>Gtg		growth arrest-specific 6			VAL/LEU,VAL/LEU,VAL/LEU	0,4406		0,0,2203	153.0	132.0	139.0		1255,436,358	3.9	0.9	13	dbSNP_134	139	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	GAS6	NM_000820.2,NM_001143945.1,NM_001143946.1	32,32,32	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	419/679,146/406,120/380	114531573	1,13005	2203	4300	6503	SO:0001583	missense	2621				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity	g.chr13:114531573G>C		CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"""AXL stimulatory factor"""	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.1255C>G	13.37:g.114531573G>C	ENSP00000331831:p.Leu419Val					GAS6_ENST00000480426.1_5'UTR|GAS6_ENST00000355761.4_Missense_Mutation_p.L365V|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000327773.6_Missense_Mutation_p.L419V|GAS6_ENST00000450766.1_Missense_Mutation_p.L146V|GAS6_ENST00000418959.3_Missense_Mutation_p.L120V	p.L462V			Q14393	GAS6_HUMAN			11	1536	-	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)	462			Laminin G-like 1.		B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Missense_Mutation	SNP	ENST00000327773.6	37	c.1384C>G	CCDS45072.1	.	.	.	.	.	.	.	.	.	.	g	15.21	2.764697	0.49574	0.0	1.16E-4	ENSG00000183087	ENST00000357389;ENST00000355761;ENST00000450766;ENST00000418959;ENST00000327773	T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93	4.83	3.94	0.45596	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	.	.	.	.	T	0.80276	0.4593	L	0.59436	1.845	0.58432	D	0.999999	D;D;D	0.76494	0.992;0.977;0.999	P;P;D	0.83275	0.889;0.872;0.996	T	0.75733	-0.3214	9	0.11794	T	0.64	-23.275	11.1322	0.48354	0.0965:0.0:0.9035:0.0	.	462;146;419	Q14393;B3KVL4;Q14393-2	GAS6_HUMAN;.;.	V	462;365;146;120;419	ENSP00000349962:L462V;ENSP00000348003:L365V;ENSP00000416498:L146V;ENSP00000400117:L120V;ENSP00000331831:L419V	ENSP00000331831:L419V	L	-	1	2	GAS6	113582370	1.000000	0.71417	0.895000	0.35142	0.125000	0.20455	3.650000	0.54424	0.920000	0.36970	0.550000	0.68814	CTG		0.577	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045946.2	NM_000820		22	51	0	0	0	1	0	22	51				
MKI67	4288	broad.mit.edu	37	10	129904148	129904148	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr10:129904148G>C	ENST00000368654.3	-	13	6331	c.5956C>G	c.(5956-5958)Cca>Gca	p.P1986A	MKI67_ENST00000368653.3_Missense_Mutation_p.P1626A	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1986	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ACTGGGTCTGGTTGTGGAGAT	0.488																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(5956-5958)Cca>Gca		marker of proliferation Ki-67							213.0	216.0	215.0					10																	129904148		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129904148G>C	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.5956C>G	10.37:g.129904148G>C	ENSP00000357643:p.Pro1986Ala					MKI67_ENST00000368653.3_Missense_Mutation_p.P1626A	p.P1986A	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	6331	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1986			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.5956C>G	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.940060	0.00484	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02737	4.18;4.18	3.46	-6.91	0.01649	.	1.400240	0.05186	N	0.502288	T	0.01800	0.0057	L	0.33485	1.01	0.09310	N	1	B;P;B	0.34615	0.018;0.459;0.276	B;B;B	0.25140	0.019;0.058;0.047	T	0.24154	-1.0168	10	0.17832	T	0.49	.	4.3568	0.11183	0.1631:0.4399:0.2452:0.1518	.	1985;1626;1986	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	A	1986;1626;1985	ENSP00000357643:P1986A;ENSP00000357642:P1626A	ENSP00000357642:P1626A	P	-	1	0	MKI67	129794138	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-7.424000	0.00036	-3.447000	0.00161	-0.176000	0.13171	CCA		0.488	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		9	246	0	0	0	1	0	9	246				
FZD10	11211	broad.mit.edu	37	12	130649165	130649165	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr12:130649165G>A	ENST00000229030.4	+	1	2162	c.1678G>A	c.(1678-1680)Gcc>Acc	p.A560T	FZD10_ENST00000539839.1_3'UTR|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	560					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TTACAAAAAAGCCCAGCATCC	0.592																																						ENST00000229030.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35						c.(1678-1680)Gcc>Acc		frizzled family receptor 10							30.0	35.0	33.0					12																	130649165		2203	4300	6503	SO:0001583	missense	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130649165G>A	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.1678G>A	12.37:g.130649165G>A	ENSP00000229030:p.Ala560Thr					FZD10_ENST00000539839.1_3'UTR	p.A560T			Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	2162	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		560						Missense_Mutation	SNP	ENST00000229030.4	37	c.1678G>A	CCDS9267.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897171	0.33535	.	.	ENSG00000111432	ENST00000229030	T	0.76316	-1.01	4.69	3.73	0.42828	.	0.511690	0.17560	U	0.169858	T	0.57095	0.2030	N	0.14661	0.345	0.35758	D	0.819923	B	0.02656	0.0	B	0.01281	0.0	T	0.56980	-0.7889	10	0.19147	T	0.46	.	7.4511	0.27240	0.0977:0.3651:0.5372:0.0	.	560	Q9ULW2	FZD10_HUMAN	T	560	ENSP00000229030:A560T	ENSP00000229030:A560T	A	+	1	0	FZD10	129215118	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	2.043000	0.41231	2.127000	0.65507	0.561000	0.74099	GCC		0.592	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				7	17	0	0	0	1	0	7	17				
DCAF12L2	340578	broad.mit.edu	37	X	125299816	125299816	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chrX:125299816G>A	ENST00000360028.2	-	1	118	c.92C>T	c.(91-93)gCg>gTg	p.A31V	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.A31V			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	31										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CTCTCCGTCCGCCGCCGCTAA	0.701																																						ENST00000538699.1																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(91-93)gCg>gTg		DDB1 and CUL4 associated factor 12-like 2							9.0	11.0	10.0					X																	125299816		1881	3800	5681	SO:0001583	missense	340578							g.chrX:125299816G>A	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.92C>T	X.37:g.125299816G>A	ENSP00000353128:p.Ala31Val					DCAF12L2_ENST00000360028.2_Missense_Mutation_p.A31V	p.A31V	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	172	-			31					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.92C>T	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	g	9.613	1.131850	0.21041	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.20200	2.09;2.09	3.0	0.0855	0.14442	.	.	.	.	.	T	0.09423	0.0232	L	0.31294	0.92	0.09310	N	1	P	0.44734	0.842	B	0.32342	0.144	T	0.21552	-1.0242	9	0.30854	T	0.27	.	2.663	0.05032	0.3964:0.0:0.3902:0.2134	.	31	Q5VW00	DC122_HUMAN	V	31	ENSP00000441489:A31V;ENSP00000353128:A31V	ENSP00000353128:A31V	A	-	2	0	DCAF12L2	125127497	0.000000	0.05858	0.000000	0.03702	0.154000	0.21943	-0.118000	0.10692	-0.100000	0.12241	0.287000	0.19450	GCG		0.701	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		14	22	0	0	0	1	0	14	22				
KRT82	3888	broad.mit.edu	37	12	52793851	52793851	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr12:52793851C>T	ENST00000257974.2	-	5	937	c.860G>A	c.(859-861)gGc>gAc	p.G287D	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	287	Coil 2.|Rod.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		AGCGATGATGCCGTCCACGTC	0.617																																						ENST00000257974.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29						c.(859-861)gGc>gAc		keratin 82							108.0	91.0	97.0					12																	52793851		2203	4300	6503	SO:0001583	missense	3888					keratin filament	protein binding|structural constituent of epidermis	g.chr12:52793851C>T	Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6459	protein-coding gene	gene with protein product	"""hard keratin type II 2"""	601078	"""keratin, hair, basic, 2"""	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.860G>A	12.37:g.52793851C>T	ENSP00000257974:p.Gly287Asp					RP3-416H24.4_ENST00000547174.1_RNA	p.G287D	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.193)	5	937	-			287			Coil 2.|Rod.			Missense_Mutation	SNP	ENST00000257974.2	37	c.860G>A	CCDS8826.1	.	.	.	.	.	.	.	.	.	.	C	8.839	0.941752	0.18281	.	.	ENSG00000161850	ENST00000257974	D	0.88431	-2.38	5.18	3.33	0.38152	Filament (1);	0.742908	0.11887	N	0.519972	D	0.85168	0.5635	L	0.47190	1.495	0.29293	N	0.869238	B	0.20887	0.049	B	0.25405	0.06	T	0.77736	-0.2476	10	0.49607	T	0.09	.	9.2724	0.37679	0.0:0.7772:0.0:0.2228	.	287	Q9NSB4	KRT82_HUMAN	D	287	ENSP00000257974:G287D	ENSP00000257974:G287D	G	-	2	0	KRT82	51080118	0.663000	0.27448	0.549000	0.28204	0.082000	0.17680	1.138000	0.31491	0.677000	0.31305	0.561000	0.74099	GGC		0.617	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1	NM_033033		3	52	0	0	0	1	0	3	52				
PLEKHA6	22874	broad.mit.edu	37	1	204228468	204228468	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr1:204228468C>T	ENST00000272203.3	-	8	1241	c.925G>A	c.(925-927)Gcc>Acc	p.A309T	PLEKHA6_ENST00000485632.1_5'Flank|PLEKHA6_ENST00000414478.1_Missense_Mutation_p.A329T	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	309	Pro-rich.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TTGCGCTGGGCAATTTTGTCA	0.647																																						ENST00000272203.3																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(925-927)Gcc>Acc		pleckstrin homology domain containing, family A member 6							95.0	98.0	97.0					1																	204228468		2203	4300	6503	SO:0001583	missense	22874							g.chr1:204228468C>T	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.925G>A	1.37:g.204228468C>T	ENSP00000272203:p.Ala309Thr					PLEKHA6_ENST00000414478.1_Missense_Mutation_p.A329T	p.A309T	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		8	1241	-	all_cancers(21;0.0222)|Breast(84;0.179)		309			Pro-rich.		A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	c.925G>A	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035118	0.93575	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.11385	2.78;3.26	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.30386	0.0763	M	0.64997	1.995	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.01090	-1.1455	10	0.25106	T	0.35	-27.2071	18.5677	0.91122	0.0:1.0:0.0:0.0	.	309	Q9Y2H5	PKHA6_HUMAN	T	309;329	ENSP00000272203:A309T;ENSP00000402046:A329T	ENSP00000272203:A309T	A	-	1	0	PLEKHA6	202495091	1.000000	0.71417	0.997000	0.53966	0.945000	0.59286	6.745000	0.74860	2.473000	0.83533	0.561000	0.74099	GCC		0.647	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		37	61	0	0	0	1	0	37	61				
CDH23	64072	broad.mit.edu	37	10	73567468	73567468	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr10:73567468T>C	ENST00000224721.6	+	58	8524	c.8519T>C	c.(8518-8520)gTg>gCg	p.V2840A	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.V595A	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2835	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GTGCGCGTTGTGCTAGAGGAC	0.637																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(8518-8520)gTg>gCg		cadherin-related 23							33.0	36.0	35.0					10																	73567468		2175	4261	6436	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73567468T>C	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.8519T>C	10.37:g.73567468T>C	ENSP00000224721:p.Val2840Ala					CDH23_ENST00000398788.3_Missense_Mutation_p.V595A|CDH23_ENST00000475158.1_3'UTR	p.V2840A	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			58	8524	+			2835			Cadherin 26.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.8519T>C		.	.	.	.	.	.	.	.	.	.	T	10.42	1.345343	0.24426	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.60672	0.17	5.6	4.47	0.54385	Cadherin (3);	0.281551	0.28538	N	0.014999	T	0.33760	0.0874	N	0.16368	0.405	0.30515	N	0.769006	B;B	0.15141	0.007;0.012	B;B	0.12156	0.003;0.007	T	0.23084	-1.0198	10	0.10636	T	0.68	.	6.2756	0.20979	0.142:0.0747:0.0:0.7833	.	2835;2835	E9PEX1;Q9H251	.;CAD23_HUMAN	A	2840;2835;2838;595	ENSP00000381768:V595A	ENSP00000224721:V2840A	V	+	2	0	CDH23	73237474	1.000000	0.71417	0.990000	0.47175	0.992000	0.81027	2.573000	0.46007	2.134000	0.65973	0.445000	0.29226	GTG		0.637	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		6	11	0	0	0	1	0	6	11				
RAI1	10743	broad.mit.edu	37	17	17698028	17698028	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr17:17698028C>T	ENST00000353383.1	+	3	2235	c.1766C>T	c.(1765-1767)gCg>gTg	p.A589V	RAI1_ENST00000261641.6_Missense_Mutation_p.A589V	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	589					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AAGTTCGTGGCGGGTGAGCGG	0.632																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(1765-1767)gCg>gTg		retinoic acid induced 1							64.0	65.0	65.0					17																	17698028		2200	4291	6491	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17698028C>T	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.1766C>T	17.37:g.17698028C>T	ENSP00000323074:p.Ala589Val					RAI1_ENST00000261641.6_Missense_Mutation_p.A589V	p.A589V	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	2235	+			589					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.1766C>T	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.666659	0.47677	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.69926	-0.44;2.29;0.15	5.18	5.18	0.71444	.	0.172767	0.40640	N	0.001046	T	0.56187	0.1968	L	0.54323	1.7	0.30361	N	0.783856	P	0.42161	0.772	B	0.27262	0.078	T	0.66834	-0.5823	10	0.51188	T	0.08	.	14.3492	0.66688	0.0:0.7265:0.2735:0.0	.	589	Q7Z5J4	RAI1_HUMAN	V	589;589;589;589;589;541	ENSP00000323074:A589V;ENSP00000379120:A589V;ENSP00000261641:A589V	ENSP00000261641:A589V	A	+	2	0	RAI1	17638753	0.927000	0.31430	0.938000	0.37757	0.950000	0.60333	1.737000	0.38197	2.423000	0.82170	0.561000	0.74099	GCG		0.632	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		19	58	0	0	0	1	0	19	58				
SPINK5	11005	broad.mit.edu	37	5	147466068	147466068	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr5:147466068A>G	ENST00000256084.7	+	5	425	c.383A>G	c.(382-384)aAc>aGc	p.N128S	SPINK5_ENST00000359874.3_Missense_Mutation_p.N128S|SPINK5_ENST00000398454.1_Missense_Mutation_p.N128S	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	128	Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATATGACAACAGATGTGCA	0.378																																						ENST00000359874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64						c.(382-384)aAc>aGc		serine peptidase inhibitor, Kazal type 5							208.0	198.0	201.0					5																	147466068		1903	4132	6035	SO:0001583	missense	11005				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	g.chr5:147466068A>G	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.383A>G	5.37:g.147466068A>G	ENSP00000256084:p.Asn128Ser					SPINK5_ENST00000398454.1_Missense_Mutation_p.N128S|SPINK5_ENST00000256084.7_Missense_Mutation_p.N128S	p.N128S	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	456	+			128			Kazal-like 2.		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	c.383A>G	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	A	5.301	0.240851	0.10077	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63	5.13	-4.31	0.03698	Proteinase inhibitor I1, Kazal (2);Protease inhibitor, Kazal-type (1);	0.493078	0.17081	N	0.187779	T	0.75583	0.3869	L	0.54965	1.715	0.09310	N	1	B;B;B;B	0.19331	0.035;0.013;0.035;0.028	B;B;B;B	0.24006	0.034;0.03;0.05;0.03	T	0.60642	-0.7223	10	0.30854	T	0.27	-3.2882	13.0627	0.59015	0.8769:0.0:0.1231:0.0	.	109;128;128;128	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	S	128;128;109;128	ENSP00000381472:N128S;ENSP00000352936:N128S;ENSP00000421519:N109S;ENSP00000256084:N128S	ENSP00000256084:N128S	N	+	2	0	SPINK5	147446261	0.989000	0.36119	0.020000	0.16555	0.215000	0.24574	0.906000	0.28517	-0.788000	0.04504	-0.479000	0.04858	AAC		0.378	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		3	86	0	0	0	1	0	3	86				
NGEF	25791	broad.mit.edu	37	2	233756167	233756167	+	Missense_Mutation	SNP	G	G	C	rs148012306		TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr2:233756167G>C	ENST00000264051.3	-	8	1451	c.1173C>G	c.(1171-1173)atC>atG	p.I391M	NGEF_ENST00000539537.1_Missense_Mutation_p.I114M|NGEF_ENST00000373552.4_Missense_Mutation_p.I299M	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	391	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		CTAGCTGCGCGATCAGCTCCC	0.612																																						ENST00000264051.3																			0				central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35						c.(1171-1173)atC>atG		neuronal guanine nucleotide exchange factor							89.0	81.0	84.0					2																	233756167		2203	4300	6503	SO:0001583	missense	25791				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233756167G>C	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"""Rho guanine nucleotide exchange factors"""	7807	protein-coding gene	gene with protein product	"""ephexin"""	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.1173C>G	2.37:g.233756167G>C	ENSP00000264051:p.Ile391Met					NGEF_ENST00000539537.1_Missense_Mutation_p.I114M|NGEF_ENST00000373552.4_Missense_Mutation_p.I299M	p.I391M	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	8	1451	-		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	391			DH.		B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	37	c.1173C>G	CCDS2500.1	.	.	.	.	.	.	.	.	.	.	G	6.657	0.489773	0.12702	.	.	ENSG00000066248	ENST00000264051;ENST00000373552;ENST00000541023;ENST00000539537;ENST00000416114;ENST00000458735	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	6.07	-2.39	0.06602	Dbl homology (DH) domain (5);	0.090335	0.85682	D	0.000000	T	0.35566	0.0936	N	0.21373	0.66	0.33399	D	0.577124	B;P	0.36027	0.28;0.533	B;B	0.34346	0.18;0.145	T	0.22347	-1.0219	10	0.56958	D	0.05	-24.9491	0.7979	0.01069	0.1936:0.1942:0.2866:0.3256	.	299;391	E9PC42;Q8N5V2	.;NGEF_HUMAN	M	391;299;281;114;114;114	ENSP00000264051:I391M;ENSP00000362653:I299M;ENSP00000439035:I114M;ENSP00000401063:I114M;ENSP00000412614:I114M	ENSP00000264051:I391M	I	-	3	3	NGEF	233464411	0.562000	0.26586	0.008000	0.14137	0.150000	0.21749	0.067000	0.14510	-0.868000	0.04058	-1.799000	0.00621	ATC		0.612	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		20	23	0	0	0	1	0	20	23				
CIDEC	63924	broad.mit.edu	37	3	9911660	9911660	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr3:9911660C>G	ENST00000336832.2	-	5	599	c.460G>C	c.(460-462)Gac>Cac	p.D154H	CIDEC_ENST00000430427.1_Missense_Mutation_p.D164H|CIDEC_ENST00000443115.1_Intron|CIDEC_ENST00000383817.1_Intron|CIDEC_ENST00000423850.1_Missense_Mutation_p.D80H|CIDEC_ENST00000455015.1_Missense_Mutation_p.D80H	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN	cell death-inducing DFFA-like effector c	154					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|lipid particle organization (GO:0034389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					CCAATGAAGTCCTGTGGGTTC	0.512																																						ENST00000336832.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8						c.(460-462)Gac>Cac		cell death-inducing DFFA-like effector c							149.0	134.0	139.0					3																	9911660		2203	4300	6503	SO:0001583	missense	63924				apoptosis|induction of apoptosis	cytosol|focal adhesion|nucleus		g.chr3:9911660C>G		CCDS2587.1, CCDS56239.1, CCDS74897.1	3p25	2004-07-26			ENSG00000187288	ENSG00000187288			24229	protein-coding gene	gene with protein product		612120				12429024	Standard	NM_001199623		Approved	CIDE-3, FLJ20871, Fsp27	uc021wsw.1	Q96AQ7	OTTHUMG00000128522	ENST00000336832.2:c.460G>C	3.37:g.9911660C>G	ENSP00000338642:p.Asp154His					CIDEC_ENST00000423850.1_Missense_Mutation_p.D80H|CIDEC_ENST00000455015.1_Missense_Mutation_p.D80H|CIDEC_ENST00000383817.1_Intron|CIDEC_ENST00000430427.1_Missense_Mutation_p.D164H|CIDEC_ENST00000443115.1_Intron	p.D154H	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN			5	599	-	Medulloblastoma(99;0.227)		154					C9JMN7|Q67DW9|Q9GZY9	Missense_Mutation	SNP	ENST00000336832.2	37	c.460G>C	CCDS2587.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.848696	0.91277	.	.	ENSG00000187288	ENST00000336832;ENST00000455015;ENST00000423850;ENST00000430427	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.95360	0.8494	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	D	0.95415	0.8502	10	0.87932	D	0	-36.9048	18.1532	0.89682	0.0:1.0:0.0:0.0	.	154;164	Q96AQ7;C9JMN7	CIDEC_HUMAN;.	H	154;80;80;164	ENSP00000338642:D154H;ENSP00000392975:D80H;ENSP00000400649:D80H;ENSP00000408631:D164H	ENSP00000338642:D154H	D	-	1	0	CIDEC	9886660	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.349000	0.79376	2.885000	0.99019	0.655000	0.94253	GAC		0.512	CIDEC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250334.1	NM_022094		34	49	0	0	0	1	0	34	49				
ACRC	93953	broad.mit.edu	37	X	70824520	70824520	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chrX:70824520A>G	ENST00000373695.1	+	7	1930	c.1393A>G	c.(1393-1395)Aca>Gca	p.T465A	ACRC_ENST00000373696.3_Missense_Mutation_p.T465A			Q96QF7	ACRC_HUMAN	acidic repeat containing	465	Arg/Lys/Pro-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TGTATCTGTGACACCTGGTAA	0.473																																						ENST00000373695.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(1393-1395)Aca>Gca		acidic repeat containing							46.0	38.0	41.0					X																	70824520		2203	4300	6503	SO:0001583	missense	93953					nucleus		g.chrX:70824520A>G	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.1393A>G	X.37:g.70824520A>G	ENSP00000362799:p.Thr465Ala					ACRC_ENST00000373696.3_Missense_Mutation_p.T465A	p.T465A			Q96QF7	ACRC_HUMAN			7	1930	+	Renal(35;0.156)		465			Arg/Lys/Pro-rich.		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.1393A>G	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	A	11.42	1.632613	0.29068	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.32988	1.43;1.43	3.71	-7.41	0.01392	.	.	.	.	.	T	0.13457	0.0326	L	0.27053	0.805	0.09310	N	1	B	0.22346	0.068	B	0.17722	0.019	T	0.24905	-1.0147	9	0.13853	T	0.58	.	3.7848	0.08695	0.1777:0.5084:0.1875:0.1264	.	465	Q96QF7	ACRC_HUMAN	A	465	ENSP00000362800:T465A;ENSP00000362799:T465A	ENSP00000362799:T465A	T	+	1	0	ACRC	70741245	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.385000	0.02540	-2.229000	0.00720	-1.341000	0.01249	ACA		0.473	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			8	13	0	0	0	1	0	8	13				
MUC16	94025	broad.mit.edu	37	19	9069138	9069138	+	Missense_Mutation	SNP	T	T	G			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr19:9069138T>G	ENST00000397910.4	-	3	18511	c.18308A>C	c.(18307-18309)gAt>gCt	p.D6103A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6105	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						AGTAGCAGCATCCAGGGACAC	0.498																																						ENST00000397910.4																			0				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						c.(18307-18309)gAt>gCt		mucin 16, cell surface associated							66.0	73.0	71.0					19																	9069138		2084	4221	6305	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9069138T>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.18308A>C	19.37:g.9069138T>G	ENSP00000381008:p.Asp6103Ala						p.D6103A	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	18511	-			6105			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.18308A>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	0.069	-1.207390	0.01568	.	.	ENSG00000181143	ENST00000397910	T	0.02944	4.1	1.11	-2.23	0.06930	.	.	.	.	.	T	0.02047	0.0064	N	0.24115	0.695	.	.	.	B	0.09022	0.002	B	0.04013	0.001	T	0.41592	-0.9500	8	0.87932	D	0	.	3.6506	0.08202	0.0:0.2968:0.205:0.4982	.	6103	B5ME49	.	A	6103	ENSP00000381008:D6103A	ENSP00000381008:D6103A	D	-	2	0	MUC16	8930138	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-4.754000	0.00190	-2.145000	0.00801	-1.278000	0.01390	GAT		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		3	24	0	0	0	1	0	3	24				
PRAMEF1	65121	broad.mit.edu	37	1	12855741	12855741	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr1:12855741G>A	ENST00000332296.7	+	4	1124	c.1021G>A	c.(1021-1023)Gga>Aga	p.G341R	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.G96R	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	341					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGAACCCCTCGGAGCTCTGCT	0.532																																						ENST00000332296.7																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1021-1023)Gga>Aga		PRAME family member 1							162.0	168.0	166.0					1																	12855741		2203	4300	6503	SO:0001583	missense	65121							g.chr1:12855741G>A	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.1021G>A	1.37:g.12855741G>A	ENSP00000332134:p.Gly341Arg					PRAMEF1_ENST00000400814.3_Missense_Mutation_p.G96R	p.G341R	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1124	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	341					Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	c.1021G>A	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	0.134	-1.109691	0.01813	.	.	ENSG00000116721	ENST00000332296;ENST00000400814	T;T	0.12147	2.71;2.71	1.56	0.589	0.17452	.	1.372480	0.04895	N	0.450255	T	0.06917	0.0176	N	0.11698	0.16	0.09310	N	1	B	0.23249	0.082	B	0.18263	0.021	T	0.35992	-0.9766	10	0.09843	T	0.71	.	5.5429	0.17047	0.0:0.6295:0.3705:0.0	.	341	O95521	PRAM1_HUMAN	R	341;96	ENSP00000332134:G341R;ENSP00000383616:G96R	ENSP00000332134:G341R	G	+	1	0	PRAMEF1	12778328	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.849000	0.04322	0.197000	0.20387	0.205000	0.17691	GGA		0.532	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		67	164	0	0	0	1	0	67	164				
PFKP	5214	broad.mit.edu	37	10	3175464	3175464	+	Silent	SNP	C	C	T	rs35828349	byFrequency	TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr10:3175464C>T	ENST00000381125.4	+	19	2056	c.1980C>T	c.(1978-1980)ggC>ggT	p.G660G	PFKP_ENST00000381075.2_Silent_p.G652G|PFKP_ENST00000381072.1_Silent_p.G78G	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	660	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		AGGGCAAAGGCGTGTTTGACT	0.493													C|||	14	0.00279553	0.0098	0.0014	5008	,	,		18066	0.0		0.0	False		,,,				2504	0.0					ENST00000381075.2																			0				breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1954-1956)ggC>ggT		phosphofructokinase, platelet		C	,	73,4333	65.3+/-102.7	0,73,2130	149.0	143.0	145.0		1956,1980	-10.4	0.6	10	dbSNP_126	145	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PFKP	NM_001242339.1,NM_002627.4	,	0,73,6430	TT,TC,CC		0.0,1.6568,0.5613	,	652/777,660/785	3175464	73,12933	2203	4300	6503	SO:0001819	synonymous_variant	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3175464C>T	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.1980C>T	10.37:g.3175464C>T						PFKP_ENST00000381072.1_Silent_p.G78G|PFKP_ENST00000381125.4_Silent_p.G660G	p.G652G	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	21	2180	+			660					B3KS15|Q5VSR7|Q5VSR8	Silent	SNP	ENST00000381125.4	37	c.1956C>T	CCDS7059.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	c	0.406	-0.915896	0.02415	0.016568	0.0	ENSG00000067057	ENST00000433193	.	.	.	5.28	-10.4	0.00318	.	.	.	.	.	T	0.24812	0.0602	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48163	-0.9059	4	.	.	.	.	4.9124	0.13829	0.4413:0.1909:0.3013:0.0666	rs35828349	.	.	.	V	13	.	.	A	+	2	0	PFKP	3165464	0.000000	0.05858	0.586000	0.28679	0.003000	0.03518	-4.011000	0.00314	-1.260000	0.02465	-0.150000	0.13652	GCG		0.493	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		44	145	0	0	0	1	0	44	145				
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529		TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677																																						ENST00000333822.4																			4	Substitution - Missense(4)	p.C95S(4)	endometrium(3)|kidney(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(283-285)Tgc>Agc		keratin associated protein 4-8							7.0	11.0	10.0					17																	39254054		685	1582	2267	SO:0001583	missense	728224					keratin filament		g.chr17:39254054A>T	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.283T>A	17.37:g.39254054A>T	ENSP00000328444:p.Cys95Ser						p.C95S	NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN			1	339	-			95			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.283T>A	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.755714	0.49362	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.02280	4.36	3.11	2.01	0.26516	.	0.000000	0.52532	U	0.000067	T	0.04497	0.0123	M	0.83223	2.63	0.25182	N	0.99019	B	0.21606	0.058	B	0.27887	0.084	T	0.21793	-1.0235	10	0.54805	T	0.06	.	6.3859	0.21559	0.8715:0.0:0.1285:0.0	.	95	Q9BYQ9	KRA48_HUMAN	S	95;80	ENSP00000328444:C95S	ENSP00000414561:C80S	C	-	1	0	KRTAP4-8	36507580	0.999000	0.42202	0.393000	0.26258	0.649000	0.38597	3.122000	0.50446	0.404000	0.25506	0.374000	0.22700	TGC		0.677	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		4	31	0	0	0	1	0	4	31				
OR52E4	390081	broad.mit.edu	37	11	5906365	5906365	+	Silent	SNP	T	T	C	rs375153501		TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr11:5906365T>C	ENST00000316987.2	+	1	865	c.843T>C	c.(841-843)taT>taC	p.Y281Y		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTAACCTGTATGTGGTTGTCC	0.388																																						ENST00000316987.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30						c.(841-843)taT>taC		olfactory receptor, family 52, subfamily E, member 4							135.0	130.0	132.0					11																	5906365		2201	4296	6497	SO:0001819	synonymous_variant	390081				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5906365T>C	AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"""GPCR / Class A : Olfactory receptors"""	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.843T>C	11.37:g.5906365T>C							p.Y281Y	NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	865	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	281					Q6IFG0	Silent	SNP	ENST00000316987.2	37	c.843T>C	CCDS31401.1																																																																																				0.388	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165		69	87	0	0	0	1	0	69	87				
CCDC108	255101	broad.mit.edu	37	2	219894928	219894928	+	Silent	SNP	T	T	C			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr2:219894928T>C	ENST00000341552.5	-	10	1247	c.1164A>G	c.(1162-1164)gtA>gtG	p.V388V	CCDC108_ENST00000453220.1_Silent_p.V388V|CCDC108_ENST00000441968.1_Silent_p.V388V|CCDC108_ENST00000410037.1_Silent_p.V323V|CCDC108_ENST00000409865.3_Silent_p.V377V	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	388						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGGGGCATTTACCTGTGTGG	0.567											OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(1162-1164)gtA>gtG		coiled-coil domain containing 108							75.0	76.0	76.0					2																	219894928		2203	4300	6503	SO:0001819	synonymous_variant	255101					integral to membrane	structural molecule activity	g.chr2:219894928T>C	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.1164A>G	2.37:g.219894928T>C			OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2262	CCDC108_ENST00000453220.1_Silent_p.V388V|CCDC108_ENST00000441968.1_Silent_p.V388V|CCDC108_ENST00000409865.3_Silent_p.V377V|CCDC108_ENST00000410037.1_Silent_p.V323V	p.V388V	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1247	-		Renal(207;0.0915)	388					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	ENST00000341552.5	37	c.1164A>G	CCDS2430.2																																																																																				0.567	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		25	63	0	0	0	1	0	25	63				
DMD	1756	broad.mit.edu	37	X	32459327	32459327	+	Silent	SNP	G	G	A			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chrX:32459327G>A	ENST00000357033.4	-	28	4097	c.3891C>T	c.(3889-3891)ggC>ggT	p.G1297G	DMD_ENST00000378677.2_Silent_p.G1293G	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1297					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.G1297G(1)|p.G1292G(1)|p.G1293G(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCTCAGCTCCGCCAGGAATGT	0.353																																						ENST00000357033.4																			3	Substitution - coding silent(3)	p.G1297G(1)|p.G1292G(1)|p.G1293G(1)	endometrium(3)	NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(3889-3891)ggC>ggT		dystrophin							75.0	73.0	74.0					X																	32459327		2201	4300	6501	SO:0001819	synonymous_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32459327G>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.3891C>T	X.37:g.32459327G>A						DMD_ENST00000378677.2_Silent_p.G1293G	p.G1297G	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			28	4097	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1297					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.3891C>T	CCDS14233.1																																																																																				0.353	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		31	15	0	0	0	1	0	31	15				
CUL2	8453	broad.mit.edu	37	10	35322128	35322128	+	Missense_Mutation	SNP	T	T	G			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr10:35322128T>G	ENST00000374748.1	-	12	1389	c.1076A>C	c.(1075-1077)aAt>aCt	p.N359T	CUL2_ENST00000374746.1_Missense_Mutation_p.N359T|CUL2_ENST00000374742.1_Missense_Mutation_p.N359T|CUL2_ENST00000602371.1_Missense_Mutation_p.N302T|CUL2_ENST00000537177.1_Missense_Mutation_p.N378T|CUL2_ENST00000374751.3_Missense_Mutation_p.N359T|CUL2_ENST00000374749.3_Missense_Mutation_p.N359T			Q13617	CUL2_HUMAN	cullin 2	359					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						CTGATCACCATTCAAAACAGT	0.308																																						ENST00000374748.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						c.(1075-1077)aAt>aCt		cullin 2							106.0	100.0	103.0					10																	35322128		2203	4298	6501	SO:0001583	missense	8453				cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr10:35322128T>G	U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.1076A>C	10.37:g.35322128T>G	ENSP00000363880:p.Asn359Thr					CUL2_ENST00000374742.1_Missense_Mutation_p.N359T|CUL2_ENST00000374751.3_Missense_Mutation_p.N359T|CUL2_ENST00000374746.1_Missense_Mutation_p.N359T|CUL2_ENST00000374749.3_Missense_Mutation_p.N359T|CUL2_ENST00000602371.1_Missense_Mutation_p.N302T|CUL2_ENST00000537177.1_Missense_Mutation_p.N378T	p.N359T			Q13617	CUL2_HUMAN			12	1389	-			359					B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	ENST00000374748.1	37	c.1076A>C	CCDS7179.1	.	.	.	.	.	.	.	.	.	.	T	15.60	2.880459	0.51801	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177	T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39	5.97	5.97	0.96955	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.35998	0.0951	L	0.42245	1.32	0.80722	D	1	P;P;P	0.39759	0.492;0.637;0.687	B;B;B	0.40329	0.268;0.219;0.326	T	0.06881	-1.0802	10	0.34782	T	0.22	-38.6919	16.4534	0.84003	0.0:0.0:0.0:1.0	.	359;378;359	Q5T2B5;G3V1S2;Q13617	.;.;CUL2_HUMAN	T	359;359;359;359;302;359;378	ENSP00000363883:N359T;ENSP00000363880:N359T;ENSP00000363878:N359T;ENSP00000363881:N359T;ENSP00000363874:N359T;ENSP00000444856:N378T	ENSP00000363874:N359T	N	-	2	0	CUL2	35362134	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.277000	0.72608	2.285000	0.76669	0.477000	0.44152	AAT		0.308	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591		25	75	0	0	0	1	0	25	75				
CSMD3	114788	broad.mit.edu	37	8	113988234	113988234	+	Missense_Mutation	SNP	C	C	T	rs557572936		TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr8:113988234C>T	ENST00000297405.5	-	7	1418	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K	CSMD3_ENST00000352409.3_Missense_Mutation_p.E392K|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000343508.3_Missense_Mutation_p.E352K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	392						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E392K(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CGCTGTTCCTCGGAAAGTCTA	0.502										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C|||	1	0.000199681	0.0	0.0	5008	,	,		17209	0.001		0.0	False		,,,				2504	0.0					ENST00000297405.5																			1	Substitution - Missense(1)	p.E392K(1)	ovary(1)	breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(1174-1176)Gag>Aag		CUB and Sushi multiple domains 3							203.0	178.0	186.0					8																	113988234		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113988234C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1174G>A	8.37:g.113988234C>T	ENSP00000297405:p.Glu392Lys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.E392K|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000343508.3_Missense_Mutation_p.E352K	p.E392K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			7	1418	-			392					Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.1174G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919931	0.73098	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000352409	T;T;T	0.18338	2.22;2.22;2.22	6.17	6.17	0.99709	.	0.177149	0.36268	N	0.002692	T	0.26846	0.0657	N	0.22421	0.69	0.36807	D	0.885667	D;D	0.65815	0.992;0.995	D;D	0.70716	0.935;0.97	T	0.01753	-1.1281	10	0.05959	T	0.93	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	392;352	Q7Z407;Q7Z407-2	CSMD3_HUMAN;.	K	352;392;392	ENSP00000345799:E352K;ENSP00000297405:E392K;ENSP00000343124:E392K	ENSP00000297405:E392K	E	-	1	0	CSMD3	114057410	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.685000	0.54678	2.941000	0.99782	0.655000	0.94253	GAG		0.502	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		131	62	0	0	0	1	0	131	62				
ABI2	10152	broad.mit.edu	37	2	204281776	204281776	+	Silent	SNP	G	G	A			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr2:204281776G>A	ENST00000422511.2	+	10	1270	c.1239G>A	c.(1237-1239)ccG>ccA	p.P413P	ABI2_ENST00000261017.5_Silent_p.P408P|ABI2_ENST00000261018.7_Silent_p.P232P|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000261016.6_Silent_p.P334P|ABI2_ENST00000424558.1_Silent_p.P440P|ABI2_ENST00000295851.5_Silent_p.P446P|ABI2_ENST00000430418.1_Silent_p.P391P			Q9NYB9	ABI2_HUMAN	abl-interactor 2	446	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|cell migration (GO:0016477)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|Rac protein signal transduction (GO:0016601)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	cytoskeletal adaptor activity (GO:0008093)|DNA binding (GO:0003677)|kinase binding (GO:0019900)|proline-rich region binding (GO:0070064)|protein complex binding (GO:0032403)|SH3 domain binding (GO:0017124)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						AGGACCCACCGTGGGCTCCAC	0.468																																						ENST00000295851.4																			0				breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						c.(1336-1338)ccG>ccA		abl-interactor 2							86.0	85.0	85.0					2																	204281776		2203	4300	6503	SO:0001819	synonymous_variant	10152				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding	g.chr2:204281776G>A	AF260261	CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1	2q33	2010-09-20	2009-07-23		ENSG00000138443	ENSG00000138443			24011	protein-coding gene	gene with protein product		606442				7590236, 10964520	Standard	XM_005246217		Approved	ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2	uc002uzz.3	Q9NYB9	OTTHUMG00000132879	ENST00000422511.2:c.1239G>A	2.37:g.204281776G>A						ABI2_ENST00000261017.5_Silent_p.P408P|ABI2_ENST00000422511.2_Silent_p.P413P|ABI2_ENST00000261018.7_Silent_p.P232P|ABI2_ENST00000261016.6_Silent_p.P334P|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000424558.1_Silent_p.P440P|ABI2_ENST00000430418.1_Silent_p.P391P	p.P446P			Q9NYB9	ABI2_HUMAN			10	1634	+			446					B4DSN1|Q13147|Q13249|Q13801|Q9BV70	Silent	SNP	ENST00000422511.2	37	c.1338G>A		.	.	.	.	.	.	.	.	.	.	G	7.118	0.577450	0.13686	.	.	ENSG00000138443	ENST00000454023	.	.	.	6.03	-12.1	0.00011	.	.	.	.	.	T	0.31167	0.0788	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39860	-0.9593	4	.	.	.	-9.3339	2.1652	0.03835	0.1387:0.249:0.333:0.2793	.	.	.	.	H	226	.	.	R	+	2	0	ABI2	203990021	0.000000	0.05858	0.160000	0.22671	0.832000	0.47134	-8.646000	0.00018	-2.302000	0.00657	-1.261000	0.01458	CGT		0.468	ABI2-007	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000336179.2	NM_005759		3	63	0	0	0	1	0	3	63				
GUCY1A3	2982	broad.mit.edu	37	4	156632083	156632083	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr4:156632083T>C	ENST00000296518.7	+	6	975	c.766T>C	c.(766-768)Tcc>Ccc	p.S256P	GUCY1A3_ENST00000455639.2_Missense_Mutation_p.S256P|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.S256P|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.S256P|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.S256P|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.S256P|GUCY1A3_ENST00000393832.3_5'UTR			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	256					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CTTGTTGTACTCCGTTCACAT	0.483																																						ENST00000296518.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(766-768)Tcc>Ccc		guanylate cyclase 1, soluble, alpha 3							126.0	119.0	121.0					4																	156632083		2203	4300	6503	SO:0001583	missense	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156632083T>C		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.766T>C	4.37:g.156632083T>C	ENSP00000296518:p.Ser256Pro					GUCY1A3_ENST00000511507.1_Missense_Mutation_p.S256P|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.S256P|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.S256P|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.S256P|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.S256P	p.S256P			Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	6	975	+	all_hematologic(180;0.24)	Renal(120;0.0854)	256					D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	c.766T>C	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	T	10.84	1.463674	0.26248	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000296518;ENST00000513574	D;D;D;D;D;D	0.84730	-1.89;-1.89;-1.75;-1.89;-1.89;-1.89	5.76	4.56	0.56223	.	0.000000	0.64402	D	0.000006	D	0.87629	0.6225	M	0.62723	1.935	0.45762	D	0.998654	D;D;P	0.56968	0.978;0.978;0.935	P;P;P	0.54706	0.759;0.759;0.68	D	0.85481	0.1179	10	0.30078	T	0.28	.	13.2871	0.60249	0.0:0.0:0.1324:0.8676	.	256;256;256	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	P	256	ENSP00000424361:S256P;ENSP00000421493:S256P;ENSP00000426968:S256P;ENSP00000412201:S256P;ENSP00000296518:S256P;ENSP00000426040:S256P	ENSP00000296518:S256P	S	+	1	0	GUCY1A3	156851533	1.000000	0.71417	0.445000	0.26908	0.005000	0.04900	4.287000	0.59001	1.090000	0.41315	-0.329000	0.08387	TCC		0.483	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			4	69	0	0	0	1	0	4	69				
ATP6V1C2	245973	broad.mit.edu	37	2	10917819	10917820	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr2:10917819_10917820delAG	ENST00000272238.4	+	11	1043_1044	c.934_935delAG	c.(934-936)agafs	p.R312fs	ATP6V1C2_ENST00000381661.3_Intron	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	312					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GCAGACCGACAGAGAGAGAGAG	0.604																																					NSCLC(188;1042 2136 10807 16813 47705)	ENST00000272238.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(934-936)afs		ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2																																				SO:0001589	frameshift_variant	245973				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		g.chr2:10917819_10917820delAG	AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"""ATPases / V-type"""	18264	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"""			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.934_935delAG	2.37:g.10917829_10917830delAG	ENSP00000272238:p.Arg312fs					ATP6V1C2_ENST00000381661.3_Intron	p.R312fs	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN		Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)	11	1043_1044	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		312					Q96EL8	Frame_Shift_Del	DEL	ENST00000272238.4	37	c.934_935delAG	CCDS42653.1																																																																																				0.604	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	NM_144583		8	92						8	92	---	---	---	---
HLA-V	352962	broad.mit.edu	37	6	29761783	29761784	+	RNA	INS	-	-	G			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr6:29761783_29761784insG	ENST00000457107.1	+	0	1009_1010									major histocompatibility complex, class I, V (pseudogene)																		ggattggtgcaaagccctgctt	0.55																																						ENST00000457107.1																			0																																																			0							g.chr6:29761783_29761784insG	M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29761783_29761784insG														0	1009_1010	+									RNA	INS	ENST00000457107.1	37																																																																																						0.550	HLA-V-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000105231.1	NG_002729		2	4						2	4	---	---	---	---
MACC1	346389	broad.mit.edu	37	7	20198631	20198635	+	Frame_Shift_Del	DEL	TTCTC	TTCTC	-			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr7:20198631_20198635delTTCTC	ENST00000400331.5	-	5	1657_1661	c.1349_1353delGAGAA	c.(1348-1353)ggagaafs	p.GE450fs	MACC1_ENST00000332878.4_Frame_Shift_Del_p.GE450fs|MACC1_ENST00000589011.1_Frame_Shift_Del_p.GE450fs	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	450					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TTTCTTTCCTTTCTCCTTCTGTCTT	0.346																																						ENST00000400331.5																			0				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						c.(1348-1353)gfs		metastasis associated in colon cancer 1																																				SO:0001589	frameshift_variant	346389				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	g.chr7:20198631_20198635delTTCTC		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.1349_1353delGAGAA	7.37:g.20198631_20198635delTTCTC	ENSP00000383185:p.Gly450fs					MACC1_ENST00000332878.4_Frame_Shift_Del_p.GE450fs|MACC1_ENST00000589011.1_Frame_Shift_Del_p.GE450fs	p.GE450fs	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN			5	1657_1661	-			450					A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Frame_Shift_Del	DEL	ENST00000400331.5	37	c.1349_1353delGAGAA	CCDS5369.1																																																																																				0.346	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762		38	26						38	26	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578418	7578418	+	Frame_Shift_Del	DEL	T	T	-			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr17:7578418delT	ENST00000269305.4	-	5	701	c.512delA	c.(511-513)gagfs	p.E171fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.E171fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.E171fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Frame_Shift_Del_p.E171fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.E171fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.E171fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	171	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.E171fs*2(3)|p.E171G(3)|p.E171V(2)|p.V157_C176del20(1)|p.T170fs*2(1)|p.H168fs*69(1)|p.E171fs*1(1)|p.T170fs*8(1)|p.P151_V173del23(1)|p.E78fs*2(1)|p.E171_V172delEV(1)|p.E171_H179delEVVRRCPHH(1)|p.E171fs*61(1)|p.S149fs*72(1)|p.E39fs*2(1)|p.E171A(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)	CCTCACAACCTCCGTCATGTG	0.662		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)	ENST00000420246.2		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"""		29	Deletion - Frameshift(11)|Whole gene deletion(8)|Substitution - Missense(6)|Deletion - In frame(4)	p.0?(8)|p.E171fs*2(3)|p.E171G(3)|p.E171V(2)|p.V157_C176del20(1)|p.T170fs*2(1)|p.H168fs*69(1)|p.E171fs*1(1)|p.T170fs*8(1)|p.P151_V173del23(1)|p.E78fs*2(1)|p.E171_V172delEV(1)|p.E171_H179delEVVRRCPHH(1)|p.E171fs*61(1)|p.S149fs*72(1)|p.E39fs*2(1)|p.E171A(1)	breast(6)|large_intestine(4)|central_nervous_system(4)|bone(4)|stomach(3)|oesophagus(2)|liver(2)|lung(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(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						c.(511-513)ggfs	Other conserved DNA damage response genes	tumor protein p53							52.0	52.0	52.0					17																	7578418		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578418delT	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.512delA	17.37:g.7578418delT	ENSP00000269305:p.Glu171fs	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_ENST00000269305.4_Frame_Shift_Del_p.E171fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.E171fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.E171fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Frame_Shift_Del_p.E171fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.E171fs	p.E171fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	644	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	171		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.512delA	CCDS11118.1																																																																																				0.662	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		78	8						78	8	---	---	---	---
TBC1D3P1-DHX40P1	653645	broad.mit.edu	37	17	58090681	58090681	+	lincRNA	DEL	T	T	-	rs201638373		TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr17:58090681delT	ENST00000407042.3	-	0	609									TBC1D3P1-DHX40P1 readthrough transcribed pseudogene																		CTCTGAATGATTTTTTTTTTT	0.458																																						ENST00000407042.3																			0																																																			0							g.chr17:58090681delT			17q23.1	2014-09-10	2012-12-07		ENSG00000267104	ENSG00000267104			42362	other	readthrough			"""TBC1D3P1-DHX40P1 readthrough (non-protein coding)"""				Standard	NR_002924		Approved		uc002iyf.2		OTTHUMG00000179977		17.37:g.58090681delT														0	609	-									RNA	DEL	ENST00000407042.3	37																																																																																						0.458	TBC1D3P1-DHX40P1-201	KNOWN	basic	lincRNA	lincRNA		NR_002924		4	7						4	7	---	---	---	---
UHRF1	29128	broad.mit.edu	37	19	4929125	4929125	+	RNA	DEL	C	C	-	rs5826865	byFrequency	TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr19:4929125delC	ENST00000592666.1	+	0	729							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		ATGCAGATTGCCCCCCCCCCA	0.607														1789	0.357228	0.4054	0.4323	5008	,	,		18393	0.2381		0.3082	False		,,,				2504	0.4121					ENST00000592666.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16								ubiquitin-like with PHD and ring finger domains 1																																						29128				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:4929125delC	AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4929125delC										Q96T88	UHRF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)	0	729	+								A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	DEL	ENST00000592666.1	37																																																																																						0.607	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	NM_001048201		6	10						6	10	---	---	---	---
MYT1	4661	broad.mit.edu	37	20	62839165	62839168	+	Frame_Shift_Del	DEL	GCCA	GCCA	-			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr20:62839165_62839168delGCCA	ENST00000328439.1	+	7	980_983	c.616_619delGCCA	c.(616-621)gccagcfs	p.AS206fs	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000536311.1_Frame_Shift_Del_p.AS206fs	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGAGGGAGCTGCCAGCGAGGAGGG	0.623																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(616-621)gcfs		myelin transcription factor 1																																				SO:0001589	frameshift_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62839165_62839168delGCCA	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.616_619delGCCA	20.37:g.62839165_62839168delGCCA	ENSP00000327465:p.Ala206fs					MYT1_ENST00000328439.1_Frame_Shift_Del_p.AS206fs|MYT1_ENST00000360149.4_Intron	p.AS206fs			Q01538	MYT1_HUMAN			7	980_983	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		206			Glu-rich.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Frame_Shift_Del	DEL	ENST00000328439.1	37	c.616_619delGCCA	CCDS13558.1																																																																																				0.623	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		13	72						13	72	---	---	---	---
MYT1	4661	broad.mit.edu	37	20	62839435	62839440	+	In_Frame_Del	DEL	GAGGAA	GAGGAA	-	rs143133195|rs537698482	byFrequency	TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr20:62839435_62839440delGAGGAA	ENST00000328439.1	+	7	1250_1255	c.886_891delGAGGAA	c.(886-891)gaggaadel	p.EE304del	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000536311.1_In_Frame_Del_p.EE304del	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ggaagaggaggaggaagaggaagagg	0.587														14	0.00279553	0.0083	0.0	5008	,	,		15979	0.0		0.001	False		,,,				2504	0.002				GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(886-891)del		myelin transcription factor 1				32,4232		0,32,2100						-3.2	0.0			47	19,8235		1,17,4109	no	coding	MYT1	NM_004535.2		1,49,6209	A1A1,A1R,RR		0.2302,0.7505,0.4074				51,12467				SO:0001651	inframe_deletion	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62839435_62839440delGAGGAA	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.886_891delGAGGAA	20.37:g.62839441_62839446delGAGGAA	ENSP00000327465:p.Glu304_Glu305del					MYT1_ENST00000328439.1_In_Frame_Del_p.EE304del|MYT1_ENST00000360149.4_Intron	p.EE304del			Q01538	MYT1_HUMAN			7	1250_1255	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		304			Glu-rich.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	In_Frame_Del	DEL	ENST00000328439.1	37	c.886_891delGAGGAA	CCDS13558.1																																																																																				0.587	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		16	61						16	61	---	---	---	---
PCMTD2	55251	broad.mit.edu	37	20	62896749	62896749	+	Frame_Shift_Del	DEL	G	G	-			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr20:62896749delG	ENST00000308824.6	+	4	676	c.549delG	c.(547-549)gtgfs	p.V183fs	PCMTD2_ENST00000369758.4_Frame_Shift_Del_p.V183fs|PCMTD2_ENST00000299468.7_Frame_Shift_Del_p.V183fs|PCMTD2_ENST00000609372.1_Intron	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	183						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TTCTCAAAGTGGGAGGGATCC	0.488																																						ENST00000308824.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17						c.(547-549)gtfs		protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2							157.0	138.0	144.0					20																	62896749		2203	4300	6503	SO:0001589	frameshift_variant	55251					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr20:62896749delG	AK001745	CCDS13559.1, CCDS46631.1	20q13.33	2012-10-02	2005-10-06	2005-10-06	ENSG00000203880	ENSG00000203880			15882	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 36"""	C20orf36			Standard	NM_018257		Approved	FLJ10883	uc002yil.4	Q9NV79	OTTHUMG00000033029	ENST00000308824.6:c.549delG	20.37:g.62896749delG	ENSP00000307854:p.Val183fs					PCMTD2_ENST00000369758.3_Frame_Shift_Del_p.V183fs|PCMTD2_ENST00000299468.7_Frame_Shift_Del_p.V183fs	p.V183fs	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN			4	676	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		183					E1P5H3|Q8IW60|Q9H4K2	Frame_Shift_Del	DEL	ENST00000308824.6	37	c.549delG	CCDS13559.1																																																																																				0.488	PCMTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080301.1	NM_018257		21	93						21	93	---	---	---	---
