#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CROCC	9696	broad.mit.edu	37	1	17295800	17295800	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr1:17295800C>G	ENST00000375541.5	+	32	5335	c.5266C>G	c.(5266-5268)Ctg>Gtg	p.L1756V		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin									p.L1756V(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCAGAAGGCTCTGACCGCCTG	0.652																																						ENST00000375541.5																			1	Substitution - Missense(1)	p.L1756V(1)	prostate(1)	breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(5266-5268)Ctg>Gtg		ciliary rootlet coiled-coil, rootletin							26.0	26.0	26.0					1																	17295800		2202	4300	6502	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17295800C>G	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.5266C>G	1.37:g.17295800C>G	ENSP00000364691:p.Leu1756Val		Somatic					p.L1756V	NM_014675.3	NP_055490.3	WXS	Illumina GAIIx	Phase_I	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	32	5335	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	1756						Missense_Mutation	SNP	ENST00000375541.5	37	c.5266C>G	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802009	0.50315	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.12465	2.68	4.62	1.67	0.24075	.	.	.	.	.	T	0.28200	0.0696	M	0.70842	2.15	0.47037	D	0.999299	P;D;P	0.54397	0.909;0.966;0.916	P;P;P	0.62813	0.863;0.881;0.907	T	0.00926	-1.1512	9	0.39692	T	0.17	.	8.0689	0.30678	0.0:0.7153:0.0:0.2847	.	1637;1059;1756	B1AKD8;Q5TZA2-2;Q5TZA2	.;.;CROCC_HUMAN	V	1756;1637	ENSP00000364691:L1756V	ENSP00000364691:L1756V	L	+	1	2	CROCC	17168387	0.791000	0.28800	0.451000	0.26982	0.896000	0.52359	1.441000	0.35035	0.142000	0.18901	-0.424000	0.05967	CTG		0.652	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		7	12	7	12	---	---	---	---
PCSK9	255738	broad.mit.edu	37	1	55521763	55521763	+	Silent	SNP	C	C	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr1:55521763C>T	ENST00000302118.5	+	6	1187	c.897C>T	c.(895-897)gcC>gcT	p.A299A	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Silent_p.A99A	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	299	Peptidase S8.				apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.A299A(1)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						TCCTCAACGCCGCCTGCCAGC	0.692																																					Pancreas(137;1454 1827 5886 22361 42375)	ENST00000302118.5																			1	Substitution - coding silent(1)	p.A299A(1)	prostate(1)	NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						c.(895-897)gcC>gcT		proprotein convertase subtilisin/kexin type 9							13.0	15.0	14.0					1																	55521763		2192	4288	6480	SO:0001819	synonymous_variant	255738				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	g.chr1:55521763C>T	AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"""hypercholesterolemia, autosomal dominant 3"""	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.897C>T	1.37:g.55521763C>T			Somatic				PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Silent_p.A99A	p.A299A	NM_174936.3	NP_777596.2	WXS	Illumina GAIIx	Phase_I	Q8NBP7	PCSK9_HUMAN			6	1187	+			299			Peptidase S8.		A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Silent	SNP	ENST00000302118.5	37	c.897C>T	CCDS603.1																																																																																				0.692	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		3	11	3	11	---	---	---	---
TRIM45	80263	broad.mit.edu	37	1	117661174	117661174	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr1:117661174C>A	ENST00000256649.4	-	2	1230	c.704G>T	c.(703-705)gGg>gTg	p.G235V	TRIM45_ENST00000369464.3_Missense_Mutation_p.G235V|TRIM45_ENST00000369461.3_Missense_Mutation_p.G178V	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	235					bone development (GO:0060348)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.G235V(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		CACAGAGTCCCCATGCTTGTG	0.577																																						ENST00000256649.4																			2	Substitution - Missense(2)	p.G235V(2)	prostate(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23						c.(703-705)gGg>gTg		tripartite motif containing 45							61.0	60.0	60.0					1																	117661174		2203	4300	6503	SO:0001583	missense	80263					cytoplasm|nucleus	zinc ion binding	g.chr1:117661174C>A		CCDS893.1, CCDS44200.1	1p13.1	2011-04-20	2011-01-25		ENSG00000134253	ENSG00000134253		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19018	protein-coding gene	gene with protein product		609318	"""tripartite motif-containing 45"""			15351693	Standard	NM_025188		Approved	FLJ13181, RNF99	uc001egz.2	Q9H8W5	OTTHUMG00000012119	ENST00000256649.4:c.704G>T	1.37:g.117661174C>A	ENSP00000256649:p.Gly235Val		Somatic				TRIM45_ENST00000369464.3_Missense_Mutation_p.G235V|TRIM45_ENST00000369461.3_Missense_Mutation_p.G178V	p.G235V	NM_025188.3	NP_079464.2	WXS	Illumina GAIIx	Phase_I	Q9H8W5	TRI45_HUMAN		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)	2	1230	-	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)	235					Q53GN0|Q5T2K4|Q5T2K5|Q8IYV6	Missense_Mutation	SNP	ENST00000256649.4	37	c.704G>T	CCDS893.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225435	0.79576	.	.	ENSG00000134253	ENST00000256649;ENST00000369464;ENST00000369461	D;D;D	0.83419	-1.72;-1.72;-1.72	5.32	5.32	0.75619	.	0.051432	0.85682	D	0.000000	D	0.88209	0.6375	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.69307	0.963;0.919	D	0.88061	0.2794	10	0.59425	D	0.04	-33.0414	18.1728	0.89752	0.0:1.0:0.0:0.0	.	235;235	Q9H8W5-2;Q9H8W5	.;TRI45_HUMAN	V	235;235;178	ENSP00000256649:G235V;ENSP00000358476:G235V;ENSP00000358473:G178V	ENSP00000256649:G235V	G	-	2	0	TRIM45	117462697	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	7.053000	0.76641	2.771000	0.95319	0.655000	0.94253	GGG		0.577	TRIM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033503.1	NM_025188		4	148	4	148	---	---	---	---
RGS5	8490	broad.mit.edu	37	1	163122355	163122355	+	Silent	SNP	C	C	T	rs150796534		TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr1:163122355C>T	ENST00000313961.5	-	4	646	c.369G>A	c.(367-369)acG>acA	p.T123T	RGS5_ENST00000534288.1_5'Flank|RGS5_ENST00000367903.3_Silent_p.T143T|RGS5_ENST00000530507.1_Silent_p.T123T|RGS5_ENST00000527988.1_Silent_p.T15T	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	123	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.T123T(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			TAGGAGCCTCCGTTTGAATGA	0.473																																						ENST00000313961.5																			1	Substitution - coding silent(1)	p.T123T(1)	prostate(1)	autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(367-369)acG>acA		regulator of G-protein signaling 5		C	,	0,4406		0,0,2203	229.0	238.0	235.0		45,369	-11.0	0.0	1	dbSNP_134	235	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	RGS5	NM_001195303.1,NM_003617.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	15/74,123/182	163122355	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8490				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:163122355C>T	AF030108	CCDS1244.1, CCDS55652.1, CCDS58041.1	1q23.1	2008-02-05	2007-08-14		ENSG00000143248	ENSG00000143248		"""Regulators of G-protein signaling"""	10001	protein-coding gene	gene with protein product		603276	"""regulator of G-protein signalling 5"""			9747037	Standard	NM_003617		Approved		uc021pdt.1	O15539	OTTHUMG00000034441	ENST00000313961.5:c.369G>A	1.37:g.163122355C>T			Somatic				RGS5_ENST00000527988.1_Silent_p.T15T|RGS5_ENST00000530507.1_Silent_p.T123T|RGS5_ENST00000367903.3_Silent_p.T143T	p.T123T	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	WXS	Illumina GAIIx	Phase_I	O15539	RGS5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.187)		4	646	-			123			RGS.		E9PMP5|Q53XA9|Q599J0	Silent	SNP	ENST00000313961.5	37	c.369G>A	CCDS1244.1																																																																																				0.473	RGS5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083264.1	NM_003617		126	555	126	555	---	---	---	---
KYNU	8942	broad.mit.edu	37	2	143712411	143712411	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr2:143712411G>T	ENST00000264170.4	+	5	664	c.406G>T	c.(406-408)Gct>Tct	p.A136S	KYNU_ENST00000375773.2_Missense_Mutation_p.A136S|KYNU_ENST00000409512.1_Missense_Mutation_p.A136S	NM_003937.2	NP_003928.1			kynureninase									p.A136S(2)		large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		CCTAATGAATGCTTTGACTGT	0.284																																						ENST00000264170.4																			2	Substitution - Missense(2)	p.A136S(2)	prostate(2)	large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36						c.(406-408)Gct>Tct		kynureninase	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						104.0	112.0	109.0					2																	143712411		2203	4298	6501	SO:0001583	missense	8942				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	g.chr2:143712411G>T	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.406G>T	2.37:g.143712411G>T	ENSP00000264170:p.Ala136Ser		Somatic				KYNU_ENST00000375773.2_Missense_Mutation_p.A136S|KYNU_ENST00000409512.1_Missense_Mutation_p.A136S	p.A136S	NM_003937.2	NP_003928.1	WXS	Illumina GAIIx	Phase_I	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	5	664	+			136						Missense_Mutation	SNP	ENST00000264170.4	37	c.406G>T	CCDS2183.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.536050	0.27475	.	.	ENSG00000115919	ENST00000264170;ENST00000375773;ENST00000409512	T;T;T	0.40756	1.02;1.02;1.02	5.72	4.84	0.62591	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.287493	0.38548	N	0.001660	T	0.13543	0.0328	N	0.00427	-1.505	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.002;0.005	T	0.17077	-1.0381	10	0.09338	T	0.73	-6.1858	15.0444	0.71816	0.0683:0.0:0.9317:0.0	.	136;136	Q16719;Q9BVW3	KYNU_HUMAN;.	S	136	ENSP00000264170:A136S;ENSP00000364928:A136S;ENSP00000386731:A136S	ENSP00000264170:A136S	A	+	1	0	KYNU	143428881	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.189000	0.77747	1.555000	0.49500	0.650000	0.86243	GCT		0.284	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998		4	144	4	144	---	---	---	---
USP37	57695	broad.mit.edu	37	2	219353102	219353102	+	Silent	SNP	G	G	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr2:219353102G>T	ENST00000258399.3	-	15	1927	c.1515C>A	c.(1513-1515)ctC>ctA	p.L505L	USP37_ENST00000454775.1_Silent_p.L505L|USP37_ENST00000415516.1_Silent_p.L433L|USP37_ENST00000418019.1_Silent_p.L505L|USP37_ENST00000475553.1_5'Flank	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	505	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)	p.L505L(2)		NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GGTCAATAGAGAGGTCATTAA	0.338																																						ENST00000258399.3																			2	Substitution - coding silent(2)	p.L505L(2)	prostate(2)	NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35						c.(1513-1515)ctC>ctA		ubiquitin specific peptidase 37							118.0	123.0	121.0					2																	219353102		2203	4299	6502	SO:0001819	synonymous_variant	57695				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:219353102G>T	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.1515C>A	2.37:g.219353102G>T			Somatic				USP37_ENST00000418019.1_Silent_p.L505L|USP37_ENST00000415516.1_Silent_p.L433L|USP37_ENST00000454775.1_Silent_p.L505L	p.L505L	NM_020935.2	NP_065986	WXS	Illumina GAIIx	Phase_I	Q86T82	UBP37_HUMAN		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)	15	1927	-		Renal(207;0.0915)	505					A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Silent	SNP	ENST00000258399.3	37	c.1515C>A	CCDS2418.1																																																																																				0.338	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935		22	151	22	151	---	---	---	---
DZIP3	9666	broad.mit.edu	37	3	108347996	108347996	+	Silent	SNP	A	A	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr3:108347996A>G	ENST00000361582.3	+	8	899	c.669A>G	c.(667-669)gaA>gaG	p.E223E	DZIP3_ENST00000463306.1_Silent_p.E223E	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	223					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E223E(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						ATCCTACAGAAGATGAAGATT	0.289																																						ENST00000361582.3																			1	Substitution - coding silent(1)	p.E223E(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.(667-669)gaA>gaG		DAZ interacting zinc finger protein 3							86.0	91.0	89.0					3																	108347996		2203	4300	6503	SO:0001819	synonymous_variant	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108347996A>G	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.669A>G	3.37:g.108347996A>G			Somatic				DZIP3_ENST00000463306.1_Silent_p.E223E	p.E223E	NM_014648.3	NP_055463.1	WXS	Illumina GAIIx	Phase_I	Q86Y13	DZIP3_HUMAN			8	899	+			223					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Silent	SNP	ENST00000361582.3	37	c.669A>G	CCDS2952.1																																																																																				0.289	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		15	168	15	168	---	---	---	---
PACRGL	133015	broad.mit.edu	37	4	20714532	20714532	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr4:20714532T>A	ENST00000503585.1	+	6	879	c.488T>A	c.(487-489)cTa>cAa	p.L163Q	PACRGL_ENST00000360916.5_Missense_Mutation_p.L163Q|PACRGL_ENST00000295290.8_Missense_Mutation_p.L163Q|PACRGL_ENST00000513459.1_Missense_Mutation_p.L110Q|PACRGL_ENST00000507634.1_Missense_Mutation_p.L163Q|PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000502374.1_Missense_Mutation_p.L110Q|PACRGL_ENST00000538990.1_Intron|PACRGL_ENST00000444671.2_Intron	NM_001258345.1	NP_001245274.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	163								p.L163Q(1)		endometrium(2)|lung(7)|prostate(1)	10						ATTCCTGTGCTAAAGGCAGCT	0.333																																						ENST00000360916.5																			1	Substitution - Missense(1)	p.L163Q(1)	prostate(1)	endometrium(2)|lung(7)|prostate(1)	10						c.(487-489)cTa>cAa		PARK2 co-regulated-like							146.0	155.0	152.0					4																	20714532		2203	4299	6502	SO:0001583	missense	133015						binding	g.chr4:20714532T>A	AK098692	CCDS3427.1, CCDS47034.1, CCDS58895.1, CCDS58896.1	4p15.31	2008-10-02	2008-10-02	2008-10-02	ENSG00000163138	ENSG00000163138			28442	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 28"""	C4orf28		12477932	Standard	NM_145048		Approved	MGC29898	uc010iek.3	Q8N7B6	OTTHUMG00000128550	ENST00000503585.1:c.488T>A	4.37:g.20714532T>A	ENSP00000423881:p.Leu163Gln		Somatic				PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000503585.1_Missense_Mutation_p.L163Q|PACRGL_ENST00000444671.2_Intron|PACRGL_ENST00000538990.1_Intron|PACRGL_ENST00000295290.8_Missense_Mutation_p.L163Q|PACRGL_ENST00000502374.1_Missense_Mutation_p.L110Q|PACRGL_ENST00000513459.1_Missense_Mutation_p.L110Q|PACRGL_ENST00000507634.1_Missense_Mutation_p.L163Q	p.L163Q	NM_145048.3	NP_659485.1	WXS	Illumina GAIIx	Phase_I	Q8N7B6	PACRL_HUMAN			6	879	+			163					B2RDB9|B4DFF8|B4DMN7|Q8TBA8	Missense_Mutation	SNP	ENST00000503585.1	37	c.488T>A	CCDS58895.1	.	.	.	.	.	.	.	.	.	.	T	19.85	3.903424	0.72754	.	.	ENSG00000163138	ENST00000510051;ENST00000503585;ENST00000360916;ENST00000295290;ENST00000513861;ENST00000502374;ENST00000513590;ENST00000507634;ENST00000513459;ENST00000511089	T;T;T;T;T;T;T;T;T;T	0.78003	2.68;-1.14;2.68;2.68;0.59;2.68;2.68;2.68;2.68;2.68	5.9	5.9	0.94986	Armadillo-like helical (1);Armadillo-type fold (1);	0.097541	0.42682	D	0.000665	D	0.88669	0.6499	M	0.80422	2.495	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.87578	0.996;0.998;0.997;0.946;0.994	D	0.90038	0.4140	10	0.87932	D	0	-6.1423	16.3275	0.82990	0.0:0.0:0.0:1.0	.	110;163;211;110;163	B4DFF8;Q8N7B6;D6R9N9;D6RGK2;Q8N7B6-2	.;PACRL_HUMAN;.;.;.	Q	211;163;163;163;110;110;163;163;110;110	ENSP00000423499:L211Q;ENSP00000423881:L163Q;ENSP00000354171:L163Q;ENSP00000295290:L163Q;ENSP00000422394:L110Q;ENSP00000425461:L110Q;ENSP00000422425:L163Q;ENSP00000425938:L163Q;ENSP00000426286:L110Q;ENSP00000421687:L110Q	ENSP00000295290:L163Q	L	+	2	0	PACRGL	20323630	0.996000	0.38824	0.950000	0.38849	0.783000	0.44284	6.134000	0.71689	2.266000	0.75297	0.528000	0.53228	CTA		0.333	PACRGL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360321.2	NM_145048		57	362	57	362	---	---	---	---
PRSS48	345062	broad.mit.edu	37	4	152212529	152212529	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr4:152212529G>A	ENST00000455694.2	+	5	913	c.911G>A	c.(910-912)gGc>gAc	p.G304D	SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Missense_Mutation_p.G161D	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	304						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.G304D(1)|p.G313D(1)		kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						CACAGAGTAGGCACTGTAGCT	0.502																																						ENST00000455694.2																			2	Substitution - Missense(2)	p.G304D(1)|p.G313D(1)	prostate(2)	kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						c.(910-912)gGc>gAc		protease, serine, 48							124.0	111.0	115.0					4																	152212529		1966	4163	6129	SO:0001583	missense	345062				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr4:152212529G>A	BN000134	CCDS47145.1	4q31.3	2010-05-07			ENSG00000189099	ENSG00000189099		"""Serine peptidases / Serine peptidases"""	24635	protein-coding gene	gene with protein product						12838346	Standard	NM_183375		Approved	ESSPL	uc011cif.2	Q7RTY5	OTTHUMG00000161673	ENST00000455694.2:c.911G>A	4.37:g.152212529G>A	ENSP00000401328:p.Gly304Asp		Somatic				SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Missense_Mutation_p.G161D	p.G304D	NM_183375.2	NP_899231.2	WXS	Illumina GAIIx	Phase_I	Q7RTY5	PRS48_HUMAN			5	913	+			304					Q08E82|Q0VAD4	Missense_Mutation	SNP	ENST00000455694.2	37	c.911G>A	CCDS47145.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.36|11.36	1.616648|1.616648	0.28801|0.28801	.|.	.|.	ENSG00000189099|ENSG00000189099	ENST00000530477|ENST00000455694;ENST00000441586	.|D;D	.|0.91011	.|-2.33;-2.77	3.7|3.7	-2.74|-2.74	0.05932|0.05932	.|.	.|.	.|.	.|.	.|.	T|T	0.75874|0.75874	0.3909|0.3909	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B	.|0.14012	.|0.009;0.005	.|B;B	.|0.14578	.|0.011;0.005	T|T	0.61540|0.61540	-0.7042|-0.7042	5|9	.|0.51188	.|T	.|0.08	.|.	3.1671|3.1671	0.06539|0.06539	0.41:0.0:0.2804:0.3096|0.41:0.0:0.2804:0.3096	.|.	.|161;304	.|Q7RTY5-3;Q7RTY5	.|.;PRS48_HUMAN	T|D	283|304;161	.|ENSP00000401328:G304D;ENSP00000401420:G161D	.|ENSP00000401420:G161D	A|G	+|+	1|2	0|0	PRSS48|PRSS48	152431979|152431979	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.606000|0.606000	0.37113|0.37113	0.299000|0.299000	0.19138|0.19138	-0.699000|-0.699000	0.05077|0.05077	0.313000|0.313000	0.20887|0.20887	GCA|GGC		0.502	PRSS48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365685.3	NM_183375		5	141	5	141	---	---	---	---
MCC	4163	broad.mit.edu	37	5	112418689	112418689	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr5:112418689G>C	ENST00000302475.4	-	9	1645	c.1082C>G	c.(1081-1083)gCt>gGt	p.A361G	MCC_ENST00000515367.2_Missense_Mutation_p.A298G|MCC_ENST00000408903.3_Missense_Mutation_p.A551G|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	361					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.A361G(1)|p.A551G(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CAGGTGTTCAGCCACACTGCT	0.418																																						ENST00000302475.4																			2	Substitution - Missense(2)	p.A361G(1)|p.A551G(1)	prostate(2)	endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1081-1083)gCt>gGt		mutated in colorectal cancers							126.0	121.0	123.0					5																	112418689		2202	4300	6502	SO:0001583	missense	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112418689G>C		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.1082C>G	5.37:g.112418689G>C	ENSP00000305617:p.Ala361Gly		Somatic				MCC_ENST00000408903.3_Missense_Mutation_p.A551G|MCC_ENST00000515367.2_Missense_Mutation_p.A298G|MCC_ENST00000514701.3_5'UTR	p.A361G	NM_002387.2	NP_002378	WXS	Illumina GAIIx	Phase_I	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	9	1645	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	361					D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	c.1082C>G	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.411895	0.62511	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.44083	2.08;2.08;0.93	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.53722	0.1814	L	0.32530	0.975	0.58432	D	0.999999	D;P;D;D	0.61697	0.984;0.643;0.99;0.984	D;P;D;D	0.73380	0.935;0.745;0.98;0.935	T	0.45175	-0.9279	10	0.26408	T	0.33	-13.0772	18.7709	0.91892	0.0:0.0:1.0:0.0	.	361;323;551;361	B7Z6G0;B3KTX0;P23508-2;P23508	.;.;.;CRCM_HUMAN	G	361;298;551	ENSP00000305617:A361G;ENSP00000421615:A298G;ENSP00000386227:A551G	ENSP00000305617:A361G	A	-	2	0	MCC	112446588	1.000000	0.71417	0.946000	0.38457	0.277000	0.26821	7.786000	0.85741	2.497000	0.84241	0.563000	0.77884	GCT		0.418	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		26	102	26	102	---	---	---	---
PCDHA13	56136	broad.mit.edu	37	5	140262046	140262046	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr5:140262046C>T	ENST00000289272.2	+	1	193	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R65W|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	65	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R65W(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCCTGTTCCGGGTGGCGTC	0.617																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			1	Substitution - Missense(1)	p.R65W(1)	prostate(1)	NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(193-195)Cgg>Tgg									45.0	54.0	51.0					5																	140262046		2201	4273	6474	SO:0001583	missense	56136							g.chr5:140262046C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.193C>T	5.37:g.140262046C>T	ENSP00000289272:p.Arg65Trp		Somatic				PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R65W	p.R65W	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	193	+								O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.193C>T	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410128	0.62399	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.38887	1.11;1.11	5.54	4.65	0.58169	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.77909	0.4201	H	0.99026	4.405	0.33047	D	0.532257	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.999;0.997	D	0.88784	0.3273	9	0.87932	D	0	.	12.9014	0.58126	0.3051:0.6949:0.0:0.0	.	65;65;65	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	W	65	ENSP00000386821:R65W;ENSP00000289272:R65W	ENSP00000289272:R65W	R	+	1	2	PCDHA13	140242230	0.987000	0.35691	1.000000	0.80357	0.784000	0.44337	3.891000	0.56227	1.286000	0.44565	0.556000	0.70494	CGG		0.617	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		9	265	9	265	---	---	---	---
ZSCAN31	64288	broad.mit.edu	37	6	28294582	28294583	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr6:28294582_28294583GA>TT	ENST00000414429.1	-	8	1484_1485	c.581_582TC>AA	c.(580-582)aTC>aAA	p.I194K	ZSCAN31_ENST00000439158.1_Missense_Mutation_p.I194K|ZSCAN31_ENST00000481934.1_5'Flank|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.I194K|ZSCAN31_ENST00000446474.1_Missense_Mutation_p.I35K|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.I194K			Q96LW9	ZSC31_HUMAN	zinc finger and SCAN domain containing 31	194					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I194I(1)|p.I194N(1)									TTTCTTTTAAGATTTCTTGCTT	0.361																																						ENST00000414429.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.I194I(1)|p.I194N(1)	prostate(2)								c.(580-582)atC>atA|c.(580-582)aTc>aAc		zinc finger and SCAN domain containing 31																																				SO:0001583	missense	64288							g.chr6:28294582G>T|g.chr6:28294583A>T		CCDS4649.1, CCDS59001.1	6p	2013-01-09	2013-01-08	2013-01-08	ENSG00000235109	ENSG00000235109		"""-"", ""Zinc fingers, C2H2-type"""	14097	protein-coding gene	gene with protein product		610794	"""zinc finger protein 310 pseudogene"", ""zinc finger protein 323"""	ZNF310P, ZNF323			Standard	NM_001135216		Approved		uc003nla.3	Q96LW9	OTTHUMG00000014518	ENST00000414429.1:c.581_582delinsTT	6.37:g.28294582_28294583delinsTT	ENSP00000390076:p.Ile194Lys		Somatic				ZSCAN31_ENST00000396838.2_Silent_p.I194I|ZSCAN31_ENST00000446474.1_Silent_p.I35I|ZSCAN31_ENST00000439158.1_Silent_p.I194I|ZSCAN31_ENST00000344279.6_Silent_p.I194I|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.I194N|ZSCAN31_ENST00000446474.1_Missense_Mutation_p.I35N|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.I194N|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.I194N	p.I194I|p.I194N			WXS	Illumina GAIIx	Phase_I					8	1485|1484	-								Q6P178|Q8WWS5	Silent|Missense_Mutation	SNP	ENST00000414429.1	37	c.582C>A|c.581T>A	CCDS4649.1																																																																																				0.361	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346804.1	NM_030899		16	173|172	16	172	---	---	---	---
PRPH2	5961	broad.mit.edu	37	6	42689807	42689807	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr6:42689807G>T	ENST00000230381.5	-	1	505	c.266C>A	c.(265-267)gCc>gAc	p.A89D		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	89					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.A89D(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			GGCATACTTGGCTGGGTCCAG	0.537																																						ENST00000230381.5																			1	Substitution - Missense(1)	p.A89D(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(265-267)gCc>gAc		peripherin 2 (retinal degeneration, slow)							72.0	63.0	66.0					6																	42689807		2203	4300	6503	SO:0001583	missense	5961				cell adhesion|visual perception	integral to membrane		g.chr6:42689807G>T		CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"""Tetraspanins"""	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"""retinal degeneration, slow (retinitis pigmentosa 7)"", ""retinal degeneration, slow"""	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.266C>A	6.37:g.42689807G>T	ENSP00000230381:p.Ala89Asp		Somatic					p.A89D	NM_000322.4	NP_000313.2	WXS	Illumina GAIIx	Phase_I	P23942	PRPH2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)		1	505	-	Colorectal(47;0.196)		89					Q5TFH5|Q6DK65	Missense_Mutation	SNP	ENST00000230381.5	37	c.266C>A	CCDS4871.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190746	0.38707	.	.	ENSG00000112619	ENST00000230381	T	0.03358	3.96	5.81	2.97	0.34412	.	0.450454	0.27539	N	0.018914	T	0.03783	0.0107	M	0.68593	2.085	0.36629	D	0.876193	B	0.23316	0.083	B	0.41946	0.371	T	0.08411	-1.0723	10	0.48119	T	0.1	.	8.7417	0.34560	0.0664:0.0:0.5485:0.3851	.	89	P23942	PRPH2_HUMAN	D	89	ENSP00000230381:A89D	ENSP00000230381:A89D	A	-	2	0	PRPH2	42797785	1.000000	0.71417	0.957000	0.39632	0.862000	0.49288	4.471000	0.60182	0.794000	0.33899	0.655000	0.94253	GCC		0.537	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1	NM_000322		17	106	17	106	---	---	---	---
ICK	22858	broad.mit.edu	37	6	52897365	52897365	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr6:52897365T>G	ENST00000350082.5	-	4	590	c.244A>C	c.(244-246)Atg>Ctg	p.M82L	ICK_ENST00000356971.3_Missense_Mutation_p.M82L	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	82	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				intracellular signal transduction (GO:0035556)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.M82L(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TTTTCCTTCATGTACTCGAAG	0.323																																						ENST00000356971.3																			1	Substitution - Missense(1)	p.M82L(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31						c.(244-246)Atg>Ctg		intestinal cell (MAK-like) kinase							56.0	59.0	58.0					6																	52897365		2201	4293	6494	SO:0001583	missense	22858				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding	g.chr6:52897365T>G	AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144			21219	protein-coding gene	gene with protein product		612325				12103360	Standard	NM_014920		Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.244A>C	6.37:g.52897365T>G	ENSP00000263043:p.Met82Leu		Somatic				ICK_ENST00000350082.5_Missense_Mutation_p.M82L	p.M82L	NM_016513.4	NP_057597.2	WXS	Illumina GAIIx	Phase_I	Q9UPZ9	ICK_HUMAN			5	733	-	Lung NSC(77;0.103)		82			Protein kinase.		A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	Missense_Mutation	SNP	ENST00000350082.5	37	c.244A>C	CCDS4949.1	.	.	.	.	.	.	.	.	.	.	T	19.99	3.928445	0.73327	.	.	ENSG00000112144	ENST00000350082;ENST00000356971	T;T	0.64260	-0.09;-0.09	5.56	5.56	0.83823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.038677	0.85682	N	0.000000	T	0.34774	0.0909	N	0.12663	0.25	0.80722	D	1	B;B	0.27192	0.002;0.171	B;B	0.35688	0.015;0.208	T	0.33929	-0.9849	10	0.27082	T	0.32	-21.3714	16.0537	0.80779	0.0:0.0:0.0:1.0	.	82;82	Q9UPZ9-2;Q9UPZ9	.;ICK_HUMAN	L	82	ENSP00000263043:M82L;ENSP00000349458:M82L	ENSP00000263043:M82L	M	-	1	0	ICK	53005324	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.934000	0.87649	2.250000	0.74265	0.529000	0.55759	ATG		0.323	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040952.1	NM_016513		16	68	16	68	---	---	---	---
CFAP69	79846	broad.mit.edu	37	7	89906575	89906575	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr7:89906575A>G	ENST00000389297.4	+	11	1333	c.1082A>G	c.(1081-1083)tAt>tGt	p.Y361C	C7orf63_ENST00000316089.8_Missense_Mutation_p.Y361C|C7orf63_ENST00000497910.1_Missense_Mutation_p.Y343C	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		361								p.Y361C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TCTAATTCCTATGAAGATTTT	0.299																																						ENST00000389297.4																			1	Substitution - Missense(1)	p.Y361C(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						c.(1081-1083)tAt>tGt		chromosome 7 open reading frame 63							33.0	34.0	34.0					7																	89906575		1786	4026	5812	SO:0001583	missense	79846						binding	g.chr7:89906575A>G																												ENST00000389297.4:c.1082A>G	7.37:g.89906575A>G	ENSP00000373948:p.Tyr361Cys		Somatic				C7orf63_ENST00000497910.1_Missense_Mutation_p.Y343C|C7orf63_ENST00000316089.8_Missense_Mutation_p.Y361C	p.Y361C	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	WXS	Illumina GAIIx	Phase_I	A5D8W1	CG063_HUMAN			11	1333	+			361					A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	37	c.1082A>G	CCDS43613.2	.	.	.	.	.	.	.	.	.	.	A	22.0	4.224317	0.79576	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910	T;T;T	0.48522	0.81;0.81;0.82	6.03	6.03	0.97812	Armadillo-type fold (1);	0.377800	0.29473	N	0.012053	T	0.65238	0.2672	M	0.72118	2.19	0.46044	D	0.998834	D;D;D	0.69078	0.997;0.994;0.985	P;P;P	0.59424	0.857;0.847;0.77	T	0.66795	-0.5833	10	0.52906	T	0.07	-7.4339	16.5582	0.84512	1.0:0.0:0.0:0.0	.	343;361;361	A5D8W1-5;A5D8W1;A5D8W1-2	.;CG063_HUMAN;.	C	361;361;343	ENSP00000373948:Y361C;ENSP00000321753:Y361C;ENSP00000419549:Y343C	ENSP00000321753:Y361C	Y	+	2	0	C7orf63	89744511	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.773000	0.68898	2.308000	0.77769	0.533000	0.62120	TAT		0.299	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			5	90	5	90	---	---	---	---
PTPRZ1	5803	broad.mit.edu	37	7	121652283	121652283	+	Silent	SNP	G	G	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr7:121652283G>A	ENST00000393386.2	+	12	3594	c.3183G>A	c.(3181-3183)gaG>gaA	p.E1061E	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1061					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E1061E(3)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CTTTCAATGAGATGGTTTACC	0.348																																						ENST00000393386.2																			3	Substitution - coding silent(3)	p.E1061E(3)	prostate(3)	NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(3181-3183)gaG>gaA		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							108.0	111.0	110.0					7																	121652283		2203	4300	6503	SO:0001819	synonymous_variant	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121652283G>A	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.3183G>A	7.37:g.121652283G>A			Somatic				PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	p.E1061E	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	WXS	Illumina GAIIx	Phase_I	P23471	PTPRZ_HUMAN			12	3594	+			1061					A4D0W5|C9JFM0|O76043|Q9UDR6	Silent	SNP	ENST00000393386.2	37	c.3183G>A	CCDS34740.1																																																																																				0.348	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		32	195	32	195	---	---	---	---
SLC39A14	23516	broad.mit.edu	37	8	22265850	22265850	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr8:22265850G>A	ENST00000381237.1	+	3	417	c.298G>A	c.(298-300)Gcc>Acc	p.A100T	SLC39A14_ENST00000289952.5_Missense_Mutation_p.A100T|SLC39A14_ENST00000359741.5_Missense_Mutation_p.A100T|SLC39A14_ENST00000240095.6_Missense_Mutation_p.A100T	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	100					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ferrous iron transmembrane transporter activity (GO:0015093)|zinc ion transmembrane transporter activity (GO:0005385)	p.A100T(1)		NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		CCTCTTCACTGCCCACAATTT	0.587																																						ENST00000359741.5																			1	Substitution - Missense(1)	p.A100T(1)	prostate(1)	NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12						c.(298-300)Gcc>Acc		solute carrier family 39 (zinc transporter), member 14							79.0	78.0	78.0					8																	22265850		2203	4300	6503	SO:0001583	missense	23516					endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity	g.chr8:22265850G>A	D31887	CCDS6030.1, CCDS47822.1, CCDS47823.1	8p21.2	2013-05-22			ENSG00000104635	ENSG00000104635		"""Solute carriers"""	20858	protein-coding gene	gene with protein product		608736	"""solute carrier family 39 (metal ion transporter), member 14"""			12659941	Standard	NM_015359		Approved	KIAA0062, NET34, ZIP14	uc011kzh.2	Q15043	OTTHUMG00000097791	ENST00000381237.1:c.298G>A	8.37:g.22265850G>A	ENSP00000370635:p.Ala100Thr		Somatic				SLC39A14_ENST00000289952.5_Missense_Mutation_p.A100T|SLC39A14_ENST00000240095.6_Missense_Mutation_p.A100T|SLC39A14_ENST00000381237.1_Missense_Mutation_p.A100T	p.A100T	NM_015359.4	NP_056174.2	WXS	Illumina GAIIx	Phase_I	Q15043	S39AE_HUMAN		Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)	3	473	+			100					A6NH98|B4DIW3|B6EU88|D3DSR4|Q6ZME8|Q96BB3	Missense_Mutation	SNP	ENST00000381237.1	37	c.298G>A	CCDS47823.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.449622	0.43531	.	.	ENSG00000104635	ENST00000359741;ENST00000240095;ENST00000381237;ENST00000289952;ENST00000519960;ENST00000522881;ENST00000517552	T;T;T;T;T;T;T	0.66995	-0.22;-0.24;-0.22;-0.22;0.85;0.85;0.87	5.62	5.62	0.85841	.	0.190805	0.46758	D	0.000270	T	0.63698	0.2533	M	0.72118	2.19	0.37473	D	0.915699	B;B;B	0.16603	0.018;0.002;0.004	B;B;B	0.15052	0.012;0.005;0.009	T	0.61603	-0.7029	10	0.21540	T	0.41	-30.4146	12.5263	0.56087	0.08:0.0:0.92:0.0	.	100;100;100	Q15043-2;Q15043;B6EU88	.;S39AE_HUMAN;.	T	100	ENSP00000352779:A100T;ENSP00000240095:A100T;ENSP00000370635:A100T;ENSP00000289952:A100T;ENSP00000430629:A100T;ENSP00000429328:A100T;ENSP00000430564:A100T	ENSP00000240095:A100T	A	+	1	0	SLC39A14	22321795	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	3.052000	0.49893	2.648000	0.89879	0.561000	0.74099	GCC		0.587	SLC39A14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215039.2	XM_046677		5	146	5	146	---	---	---	---
KAT6A	7994	broad.mit.edu	37	8	41800403	41800403	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr8:41800403A>C	ENST00000396930.3	-	15	2887	c.2344T>G	c.(2344-2346)Tcc>Gcc	p.S782A	KAT6A_ENST00000485568.1_Missense_Mutation_p.S782A|KAT6A_ENST00000406337.1_Missense_Mutation_p.S782A|KAT6A_ENST00000265713.2_Missense_Mutation_p.S782A	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	782	Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S782A(2)									ACAGAGTTGGACACTATGACT	0.488																																						ENST00000396930.3																			2	Substitution - Missense(2)	p.S782A(2)	prostate(2)								c.(2344-2346)Tcc>Gcc		K(lysine) acetyltransferase 6A							133.0	128.0	130.0					8																	41800403		2203	4300	6503	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41800403A>C	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.2344T>G	8.37:g.41800403A>C	ENSP00000380136:p.Ser782Ala		Somatic				KAT6A_ENST00000265713.2_Missense_Mutation_p.S782A|KAT6A_ENST00000406337.1_Missense_Mutation_p.S782A|KAT6A_ENST00000485568.1_Missense_Mutation_p.S782A	p.S782A	NM_001099412.1	NP_001092882.1	WXS	Illumina GAIIx	Phase_I	Q92794	MYST3_HUMAN			15	2887	-			782			Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.		Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.2344T>G	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	A	13.87	2.365599	0.41902	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721;ENST00000485568	T;T;T;D	0.83992	0.25;0.25;0.25;-1.79	6.04	6.04	0.98038	.	0.149428	0.48286	D	0.000194	T	0.76435	0.3987	L	0.41124	1.26	0.30155	N	0.802717	B;B	0.26195	0.028;0.144	B;B	0.21546	0.016;0.035	T	0.75039	-0.3458	10	0.59425	D	0.04	-9.2936	11.6303	0.51171	0.8674:0.0:0.0:0.1326	.	782;782	A5PLL3;Q92794	.;KAT6A_HUMAN	A	782;782;782;362;782	ENSP00000265713:S782A;ENSP00000385888:S782A;ENSP00000380136:S782A;ENSP00000430606:S782A	ENSP00000265713:S782A	S	-	1	0	KAT6A	41919560	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.416000	0.59815	2.317000	0.78254	0.459000	0.35465	TCC		0.488	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		14	213	14	213	---	---	---	---
TJP2	9414	broad.mit.edu	37	9	71841089	71841089	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr9:71841089A>G	ENST00000377245.4	+	7	1416	c.1208A>G	c.(1207-1209)gAa>gGa	p.E403G	TJP2_ENST00000453658.2_Missense_Mutation_p.E380G|TJP2_ENST00000265384.7_Missense_Mutation_p.E403G|TJP2_ENST00000539225.1_Missense_Mutation_p.E434G|TJP2_ENST00000535702.1_Missense_Mutation_p.E407G|TJP2_ENST00000348208.4_Missense_Mutation_p.E403G	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	403					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)	p.E403G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						TCAGAAATAGAAGGTAAAGGA	0.433																																						ENST00000377245.4																			1	Substitution - Missense(1)	p.E403G(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						c.(1207-1209)gAa>gGa		tight junction protein 2							52.0	50.0	51.0					9																	71841089		2203	4300	6503	SO:0001583	missense	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71841089A>G	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.1208A>G	9.37:g.71841089A>G	ENSP00000366453:p.Glu403Gly		Somatic				TJP2_ENST00000539225.1_Missense_Mutation_p.E434G|TJP2_ENST00000453658.2_Missense_Mutation_p.E380G|TJP2_ENST00000265384.7_Missense_Mutation_p.E403G|TJP2_ENST00000535702.1_Missense_Mutation_p.E407G|TJP2_ENST00000348208.4_Missense_Mutation_p.E403G	p.E403G	NM_004817.3	NP_004808.2	WXS	Illumina GAIIx	Phase_I	Q9UDY2	ZO2_HUMAN			7	1416	+			403					A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	c.1208A>G	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	A	18.75	3.691601	0.68271	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.10288	2.91;2.92;2.91;2.89;2.91;2.97	5.89	5.89	0.94794	.	0.188760	0.51477	D	0.000092	T	0.10165	0.0249	L	0.38531	1.155	0.58432	D	0.999993	B;B;B;B;B	0.15930	0.003;0.009;0.01;0.001;0.015	B;B;B;B;B	0.15052	0.01;0.012;0.009;0.003;0.009	T	0.07693	-1.0759	10	0.49607	T	0.09	.	10.6203	0.45476	0.9287:0.0:0.0713:0.0	.	434;407;403;403;403	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	G	380;403;403;403;407;434	ENSP00000392178:E380G;ENSP00000366453:E403G;ENSP00000345893:E403G;ENSP00000265384:E403G;ENSP00000442090:E407G;ENSP00000438262:E434G	ENSP00000265384:E403G	E	+	2	0	TJP2	71030909	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.134000	0.77268	2.257000	0.74773	0.460000	0.39030	GAA		0.433	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		11	53	11	53	---	---	---	---
ZBTB34	403341	broad.mit.edu	37	9	129642273	129642273	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr9:129642273C>T	ENST00000373452.2	+	1	647	c.583C>T	c.(583-585)Cag>Tag	p.Q195*	ZBTB34_ENST00000319119.4_Nonsense_Mutation_p.Q199*			Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	195					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q199*(1)|p.Q195*(1)		endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						CAGCCGCTTACAGGAGGAGGG	0.582																																						ENST00000319119.4																			2	Substitution - Nonsense(2)	p.Q199*(1)|p.Q195*(1)	prostate(2)	endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						c.(595-597)Cag>Tag		zinc finger and BTB domain containing 34							43.0	48.0	46.0					9																	129642273		1954	4128	6082	SO:0001587	stop_gained	403341				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:129642273C>T	DQ227306	CCDS48023.1	9q33.3	2013-01-08			ENSG00000177125	ENSG00000177125		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31446	protein-coding gene	gene with protein product		611692				16718364	Standard	NM_001099270		Approved	KIAA1993, MGC24652, ZNF918	uc004bqm.4	Q8NCN2	OTTHUMG00000020694	ENST00000373452.2:c.583C>T	9.37:g.129642273C>T	ENSP00000362551:p.Gln195*		Somatic				ZBTB34_ENST00000373452.2_Nonsense_Mutation_p.Q195*	p.Q199*	NM_001099270.1	NP_001092740.1	WXS	Illumina GAIIx	Phase_I	Q8NCN2	ZBT34_HUMAN			2	680	+			195					Q38IA7|Q5VYE9	Nonsense_Mutation	SNP	ENST00000373452.2	37	c.595C>T	CCDS48023.1	.	.	.	.	.	.	.	.	.	.	C	37	6.278606	0.97435	.	.	ENSG00000177125	ENST00000319119;ENST00000373452	.	.	.	5.54	5.54	0.83059	.	0.193001	0.45126	D	0.000394	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	19.8339	0.96646	0.0:1.0:0.0:0.0	.	.	.	.	X	199;195	.	ENSP00000317534:Q199X	Q	+	1	0	ZBTB34	128682094	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	5.251000	0.65438	2.751000	0.94390	0.655000	0.94253	CAG		0.582	ZBTB34-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001099270		16	83	16	83	---	---	---	---
DHX32	55760	broad.mit.edu	37	10	127525312	127525312	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr10:127525312C>A	ENST00000284690.3	-	11	2666	c.2176G>T	c.(2176-2178)Gaa>Taa	p.E726*	BCCIP_ENST00000299130.3_Intron|DHX32_ENST00000284688.6_Nonsense_Mutation_p.E645*|BCCIP_ENST00000429863.2_Intron|DHX32_ENST00000368721.1_Nonsense_Mutation_p.E350*|BCCIP_ENST00000368759.5_Intron	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	726						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)	p.E726*(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ATTTGCTGTTCCTTATTCATT	0.473																																						ENST00000284690.3																			1	Substitution - Nonsense(1)	p.E726*(1)	prostate(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29						c.(2176-2178)Gaa>Taa		DEAH (Asp-Glu-Ala-His) box polypeptide 32							234.0	174.0	195.0					10																	127525312		2203	4300	6503	SO:0001587	stop_gained	55760					mitochondrion|nucleus	ATP binding|helicase activity	g.chr10:127525312C>A		CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"""DEAH-boxes"""	16717	protein-coding gene	gene with protein product		607960	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"""	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.2176G>T	10.37:g.127525312C>A	ENSP00000284690:p.Glu726*		Somatic				BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000368721.1_Nonsense_Mutation_p.E350*|BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000299130.3_Intron|DHX32_ENST00000284688.6_Nonsense_Mutation_p.E645*	p.E726*	NM_018180.2	NP_060650.2	WXS	Illumina GAIIx	Phase_I	Q7L7V1	DHX32_HUMAN			11	2666	-		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	726					A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Nonsense_Mutation	SNP	ENST00000284690.3	37	c.2176G>T	CCDS7652.1	.	.	.	.	.	.	.	.	.	.	C	39	7.439232	0.98286	.	.	ENSG00000089876	ENST00000368721;ENST00000284690;ENST00000284688	.	.	.	5.14	5.14	0.70334	.	0.386535	0.24488	N	0.038092	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.0484	14.1302	0.65247	0.0:0.9259:0.0:0.0741	.	.	.	.	X	350;726;645	.	ENSP00000284688:E645X	E	-	1	0	DHX32	127515302	0.998000	0.40836	0.831000	0.32960	0.230000	0.25150	1.322000	0.33689	2.680000	0.91292	0.563000	0.77884	GAA		0.473	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	NM_018180		11	90	11	90	---	---	---	---
OR5R1	219479	broad.mit.edu	37	11	56185673	56185673	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr11:56185673G>T	ENST00000312253.1	-	1	35	c.36C>A	c.(34-36)ttC>ttA	p.F12L		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F12L(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					CTTTCAGAATGAATACAGTGA	0.398																																						ENST00000312253.1																			1	Substitution - Missense(1)	p.F12L(1)	prostate(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(34-36)ttC>ttA		olfactory receptor, family 5, subfamily R, member 1							84.0	95.0	91.0					11																	56185673		2201	4295	6496	SO:0001583	missense	219479				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56185673G>T	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.36C>A	11.37:g.56185673G>T	ENSP00000308595:p.Phe12Leu		Somatic					p.F12L	NM_001004744.1	NP_001004744.1	WXS	Illumina GAIIx	Phase_I	Q8NH85	OR5R1_HUMAN			1	35	-	Esophageal squamous(21;0.00448)		12						Missense_Mutation	SNP	ENST00000312253.1	37	c.36C>A	CCDS31530.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.892618	0.33442	.	.	ENSG00000174942	ENST00000312253	T	0.04454	3.62	5.6	-1.65	0.08291	.	0.000000	0.34067	U	0.004298	T	0.08133	0.0203	M	0.79123	2.44	0.24039	N	0.996088	B	0.25667	0.131	B	0.27380	0.079	T	0.28744	-1.0034	10	0.87932	D	0	-21.0836	12.4531	0.55688	0.5064:0.0:0.4936:0.0	.	12	Q8NH85	OR5R1_HUMAN	L	12	ENSP00000308595:F12L	ENSP00000308595:F12L	F	-	3	2	OR5R1	55942249	0.177000	0.23109	0.973000	0.42090	0.290000	0.27261	-0.380000	0.07427	-0.173000	0.10761	0.297000	0.19635	TTC		0.398	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		6	235	6	235	---	---	---	---
HRASLS5	117245	broad.mit.edu	37	11	63235886	63235886	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr11:63235886A>T	ENST00000301790.4	-	4	586	c.427T>A	c.(427-429)Tat>Aat	p.Y143N	HRASLS5_ENST00000540857.1_Missense_Mutation_p.Y133N|HRASLS5_ENST00000539221.1_Missense_Mutation_p.Y143N			Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	143							transferase activity, transferring acyl groups (GO:0016746)	p.Y143N(1)		endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						CAGTGCTCATAGCCAATTCGA	0.418																																						ENST00000540857.1																			1	Substitution - Missense(1)	p.Y143N(1)	prostate(1)	endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						c.(397-399)Tat>Aat		HRAS-like suppressor family, member 5							144.0	140.0	141.0					11																	63235886		2201	4298	6499	SO:0001583	missense	117245							g.chr11:63235886A>T	AJ416558	CCDS8044.1, CCDS53646.1, CCDS53647.1	11q13.2	2006-08-16			ENSG00000168004	ENSG00000168004			24978	protein-coding gene	gene with protein product		611474					Standard	NM_001146729		Approved	HRLP5	uc001nwy.2	Q96KN8	OTTHUMG00000167806	ENST00000301790.4:c.427T>A	11.37:g.63235886A>T	ENSP00000301790:p.Tyr143Asn		Somatic				HRASLS5_ENST00000301790.4_Missense_Mutation_p.Y143N|HRASLS5_ENST00000539221.1_Missense_Mutation_p.Y143N	p.Y133N	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201|NP_473449.1	WXS	Illumina GAIIx	Phase_I	Q96KN8	HRSL5_HUMAN			4	529	-			143					B7X6T1|F5GZ87|F5H4Y9	Missense_Mutation	SNP	ENST00000301790.4	37	c.397T>A	CCDS8044.1	.	.	.	.	.	.	.	.	.	.	A	19.76	3.888169	0.72524	.	.	ENSG00000168004	ENST00000540857;ENST00000539221;ENST00000301790	T;T;T	0.35421	1.31;1.31;1.31	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.63920	0.2552	M	0.92026	3.265	0.40815	D	0.983454	D;P;P	0.67145	0.996;0.897;0.916	D;P;D	0.71184	0.972;0.898;0.938	T	0.71991	-0.4425	10	0.72032	D	0.01	-13.7223	10.2625	0.43436	1.0:0.0:0.0:0.0	.	143;133;143	F5GZ87;F5H4Y9;Q96KN8	.;.;HRSL5_HUMAN	N	133;143;143	ENSP00000444809:Y133N;ENSP00000443873:Y143N;ENSP00000301790:Y143N	ENSP00000301790:Y143N	Y	-	1	0	HRASLS5	62992462	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	2.511000	0.45476	2.192000	0.70111	0.459000	0.35465	TAT		0.418	HRASLS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396375.1	NM_054108		7	180	7	180	---	---	---	---
MMP12	4321	broad.mit.edu	37	11	102742648	102742648	+	RNA	SNP	C	C	A	rs370884462		TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr11:102742648C>A	ENST00000532855.1	-	0	481							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D129Y(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	TAGTCAACATCCTCACGGTTC	0.393																																						ENST00000532855.1																			1	Substitution - Missense(1)	p.D129Y(1)	prostate(1)	autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)	C	TYR/ASP	0,3846		0,0,1923	76.0	73.0	74.0		385	5.8	1.0	11		74	1,8283		0,1,4141	no	missense	MMP12	NM_002426.4	160	0,1,6064	AA,AC,CC		0.0121,0.0,0.0082	probably-damaging	129/471	102742648	1,12129	1923	4142	6065			4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102742648C>A	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102742648C>A			Somatic								WXS	Illumina GAIIx	Phase_I	P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	481	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	SNP	ENST00000532855.1	37																																																																																						0.393	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		10	44	10	44	---	---	---	---
HINFP	25988	broad.mit.edu	37	11	119002676	119002676	+	Silent	SNP	C	C	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr11:119002676C>G	ENST00000350777.2	+	5	723	c.660C>G	c.(658-660)cgC>cgG	p.R220R	HINFP_ENST00000527410.1_Silent_p.R220R|HINFP_ENST00000527354.1_3'UTR	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	220					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.R220R(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ACATCCGTCGCCAGACCTCAT	0.557																																						ENST00000350777.2																			2	Substitution - coding silent(2)	p.R220R(2)	prostate(2)	endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(658-660)cgC>cgG		histone H4 transcription factor							111.0	107.0	108.0					11																	119002676		2200	4295	6495	SO:0001819	synonymous_variant	25988				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:119002676C>G	AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"""Zinc fingers, C2H2-type"""	17850	protein-coding gene	gene with protein product	"""histone nuclear factor P"""	607099	"""MBD2-interacting zinc finger 1"", ""MBD2-interacting zinc finger"""	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.660C>G	11.37:g.119002676C>G			Somatic				HINFP_ENST00000527354.1_3'UTR|HINFP_ENST00000527410.1_Silent_p.R220R	p.R220R	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	WXS	Illumina GAIIx	Phase_I	Q9BQA5	HINFP_HUMAN			5	723	+			220					B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Silent	SNP	ENST00000350777.2	37	c.660C>G	CCDS8414.1																																																																																				0.557	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388201.2	NM_015517		21	120	21	120	---	---	---	---
MYH6	4624	broad.mit.edu	37	14	23862693	23862693	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr14:23862693T>C	ENST00000356287.3	-	22	2992	c.2963A>G	c.(2962-2964)gAt>gGt	p.D988G	MYH6_ENST00000405093.3_Missense_Mutation_p.D988G			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	988					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.D988G(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GATGATTTCATCCAGCCCAGC	0.527																																						ENST00000405093.3																			1	Substitution - Missense(1)	p.D988G(1)	prostate(1)	breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(2962-2964)gAt>gGt		myosin, heavy chain 6, cardiac muscle, alpha							187.0	180.0	183.0					14																	23862693		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23862693T>C	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.2963A>G	14.37:g.23862693T>C	ENSP00000348634:p.Asp988Gly		Somatic				MYH6_ENST00000356287.3_Missense_Mutation_p.D988G	p.D988G	NM_002471.3	NP_002462.2	WXS	Illumina GAIIx	Phase_I	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	23	3033	-	all_cancers(95;2.54e-05)		988					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.2963A>G	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	t	18.99	3.739146	0.69304	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.90133	-2.62;-2.62	5.12	5.12	0.69794	.	.	.	.	.	D	0.93874	0.8040	M	0.87547	2.89	0.80722	D	1	P	0.48089	0.905	P	0.50708	0.648	D	0.94690	0.7873	9	0.62326	D	0.03	.	15.2119	0.73230	0.0:0.0:0.0:1.0	.	988	P13533	MYH6_HUMAN	G	988	ENSP00000386041:D988G;ENSP00000348634:D988G	ENSP00000348634:D988G	D	-	2	0	MYH6	22932533	1.000000	0.71417	0.982000	0.44146	0.519000	0.34347	6.031000	0.70911	2.067000	0.61834	0.528000	0.53228	GAT		0.527	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			61	253	61	253	---	---	---	---
C14orf178	283579	broad.mit.edu	37	14	78227450	78227450	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr14:78227450A>G	ENST00000355883.3	+	1	274	c.65A>G	c.(64-66)cAa>cGa	p.Q22R	SNW1_ENST00000555761.1_Intron|SNW1_ENST00000554775.1_Intron|C14orf178_ENST00000439131.2_5'UTR|C14orf178_ENST00000557011.1_Missense_Mutation_p.Q22R|C14orf178_ENST00000556047.1_Missense_Mutation_p.Q22R|SNW1_ENST00000261531.7_Intron	NM_174943.3	NP_777603.1	Q8N769	CN178_HUMAN	chromosome 14 open reading frame 178	22								p.Q22R(1)|p.?(1)		large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		CCCAATCAACAACCCACCTGG	0.587																																						ENST00000355883.3																			2	Substitution - Missense(1)|Unknown(1)	p.Q22R(1)|p.?(1)	prostate(2)	large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5						c.(64-66)cAa>cGa		chromosome 14 open reading frame 178							93.0	82.0	85.0					14																	78227450		2203	4300	6503	SO:0001583	missense	283579							g.chr14:78227450A>G	AK098842	CCDS9868.1, CCDS53906.1	14q24.3	2012-03-13			ENSG00000197734	ENSG00000197734			26385	protein-coding gene	gene with protein product						12477932	Standard	NM_001173978		Approved	FLJ25976	uc021rwv.1	Q8N769	OTTHUMG00000171528	ENST00000355883.3:c.65A>G	14.37:g.78227450A>G	ENSP00000348145:p.Gln22Arg		Somatic				C14orf178_ENST00000439131.2_5'UTR|SNW1_ENST00000261531.7_Intron|C14orf178_ENST00000556047.1_Missense_Mutation_p.Q22R|C14orf178_ENST00000557011.1_Missense_Mutation_p.Q22R|SNW1_ENST00000555761.1_Intron|SNW1_ENST00000554775.1_Intron	p.Q22R	NM_174943.3	NP_777603.1	WXS	Illumina GAIIx	Phase_I	Q8N769	CN178_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)	1	274	+			22					Q2HIX2|Q3KNR7	Missense_Mutation	SNP	ENST00000355883.3	37	c.65A>G	CCDS9868.1	.	.	.	.	.	.	.	.	.	.	A	17.10	3.303423	0.60195	.	.	ENSG00000197734	ENST00000355883;ENST00000557011;ENST00000556047	T;T	0.61040	1.41;0.14	5.31	5.31	0.75309	.	.	.	.	.	T	0.51890	0.1701	N	0.17631	0.505	0.80722	D	1	D	0.61697	0.99	P	0.57911	0.829	T	0.45175	-0.9279	9	0.08837	T	0.75	.	11.5788	0.50879	1.0:0.0:0.0:0.0	.	22	Q8N769	CN178_HUMAN	R	22	ENSP00000348145:Q22R;ENSP00000451531:Q22R	ENSP00000348145:Q22R	Q	+	2	0	C14orf178	77297203	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.607000	0.36836	2.234000	0.73211	0.402000	0.26972	CAA		0.587	C14orf178-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413920.1	NM_174943		19	98	19	98	---	---	---	---
CKB	1152	broad.mit.edu	37	14	103986922	103986922	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr14:103986922C>A	ENST00000348956.2	-	6	1018	c.661G>T	c.(661-663)Gac>Tac	p.D221Y		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	221	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular chloride ion homeostasis (GO:0030644)|cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)	p.D221Y(1)		lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	GTCTTATTGTCATTGTGCCTG	0.597																																					Esophageal Squamous(186;2492 2823 49929 50127)	ENST00000348956.2																			1	Substitution - Missense(1)	p.D221Y(1)	prostate(1)	lung(2)|prostate(1)	3						c.(661-663)Gac>Tac		creatine kinase, brain	Creatine(DB00148)						61.0	48.0	53.0					14																	103986922		2198	4300	6498	SO:0001583	missense	1152				creatine metabolic process	cytosol	ATP binding|creatine kinase activity	g.chr14:103986922C>A		CCDS9981.1	14q32.32	2012-10-02			ENSG00000166165	ENSG00000166165	2.7.3.2		1991	protein-coding gene	gene with protein product		123280		CKBB			Standard	NM_001823		Approved		uc001ynf.2	P12277	OTTHUMG00000171786	ENST00000348956.2:c.661G>T	14.37:g.103986922C>A	ENSP00000299198:p.Asp221Tyr		Somatic					p.D221Y	NM_001823.4	NP_001814.2	WXS	Illumina GAIIx	Phase_I	P12277	KCRB_HUMAN	Epithelial(46;0.14)		6	1018	-		Melanoma(154;0.155)	221			Phosphagen kinase C-terminal.		A8K236|B2R5R4|Q2LE07|Q6FG40|Q9UC66	Missense_Mutation	SNP	ENST00000348956.2	37	c.661G>T	CCDS9981.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.733631	0.89482	.	.	ENSG00000166165	ENST00000348956;ENST00000428256;ENST00000553610	T;T	0.25579	1.79;1.79	4.6	4.6	0.57074	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.62159	0.2405	M	0.93328	3.405	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.74203	-0.3741	10	0.56958	D	0.05	-3.3675	17.4506	0.87591	0.0:1.0:0.0:0.0	.	221	P12277	KCRB_HUMAN	Y	221;186;30	ENSP00000299198:D221Y;ENSP00000451426:D30Y	ENSP00000299198:D221Y	D	-	1	0	CKB	103056675	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.326000	0.79133	2.103000	0.63969	0.448000	0.29417	GAC		0.597	CKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415111.1			3	33	3	33	---	---	---	---
JAG2	3714	broad.mit.edu	37	14	105622204	105622204	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr14:105622204C>T	ENST00000331782.3	-	4	1001	c.598G>A	c.(598-600)Gag>Aag	p.E200K	JAG2_ENST00000347004.2_Missense_Mutation_p.E200K|RP11-44N21.4_ENST00000548203.1_RNA	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	200	DSL. {ECO:0000255|PROSITE- ProRule:PRU00377}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)	p.E200K(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TAGTAGTTCTCGTCGCAGCGC	0.627																																						ENST00000331782.3																			2	Substitution - Missense(2)	p.E200K(2)	prostate(2)	breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(598-600)Gag>Aag		jagged 2							78.0	54.0	62.0					14																	105622204		2197	4298	6495	SO:0001583	missense	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105622204C>T	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.598G>A	14.37:g.105622204C>T	ENSP00000328169:p.Glu200Lys		Somatic				RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Missense_Mutation_p.E200K	p.E200K	NM_002226.4	NP_002217.3	WXS	Illumina GAIIx	Phase_I	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	4	1001	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	200			DSL.		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	37	c.598G>A	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.783382	0.90282	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	T;D	0.96011	-0.66;-3.88	4.18	4.18	0.49190	Delta/Serrate/lag-2 (DSL) protein (3);	0.203298	0.41001	U	0.000975	D	0.96188	0.8757	M	0.77820	2.39	0.50632	D	0.999883	D;D	0.59357	0.982;0.985	P;P	0.51999	0.559;0.687	D	0.95605	0.8666	10	0.37606	T	0.19	.	15.476	0.75481	0.0:1.0:0.0:0.0	.	200;200	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	K	200	ENSP00000328169:E200K;ENSP00000328566:E200K	ENSP00000328169:E200K	E	-	1	0	JAG2	104693249	0.984000	0.35163	0.959000	0.39883	0.929000	0.56500	3.077000	0.50089	1.864000	0.54056	0.563000	0.77884	GAG		0.627	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			6	23	6	23	---	---	---	---
TMOD2	29767	broad.mit.edu	37	15	52058730	52058730	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr15:52058730A>G	ENST00000249700.4	+	2	313	c.92A>G	c.(91-93)cAg>cGg	p.Q31R	TMOD2_ENST00000435126.2_Missense_Mutation_p.Q31R|TMOD2_ENST00000539962.2_5'UTR	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	31					learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuron-neuron synaptic transmission (GO:0007270)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)	tropomyosin binding (GO:0005523)	p.Q31R(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		GAACTGAAACAGTTGGAAAAT	0.418																																						ENST00000249700.4																			1	Substitution - Missense(1)	p.Q31R(1)	prostate(1)	cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(91-93)cAg>cGg		tropomodulin 2 (neuronal)							146.0	135.0	138.0					15																	52058730		2195	4293	6488	SO:0001583	missense	29767				nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding	g.chr15:52058730A>G	AF177169	CCDS10144.1, CCDS45260.1	15q21.2	2008-05-14			ENSG00000128872	ENSG00000128872			11872	protein-coding gene	gene with protein product		602928				10662549	Standard	NM_014548		Approved	NTMOD	uc002abk.3	Q9NZR1	OTTHUMG00000131805	ENST00000249700.4:c.92A>G	15.37:g.52058730A>G	ENSP00000249700:p.Gln31Arg		Somatic				TMOD2_ENST00000539962.2_5'UTR|TMOD2_ENST00000435126.2_Missense_Mutation_p.Q31R	p.Q31R	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	WXS	Illumina GAIIx	Phase_I	Q9NZR1	TMOD2_HUMAN		all cancers(107;0.00435)	2	313	+			31					B4DEW6	Missense_Mutation	SNP	ENST00000249700.4	37	c.92A>G	CCDS10144.1	.	.	.	.	.	.	.	.	.	.	A	19.23	3.787879	0.70337	.	.	ENSG00000128872	ENST00000435126;ENST00000249700	T;T	0.34072	1.38;1.38	5.76	4.63	0.57726	.	0.122006	0.56097	N	0.000022	T	0.58061	0.2096	M	0.76002	2.32	0.44899	D	0.997915	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	T	0.58825	-0.7568	10	0.49607	T	0.09	-7.0087	11.5957	0.50972	0.9303:0.0:0.0697:0.0	.	31;31	Q9NZR1-2;Q9NZR1	.;TMOD2_HUMAN	R	31	ENSP00000404590:Q31R;ENSP00000249700:Q31R	ENSP00000249700:Q31R	Q	+	2	0	TMOD2	49846022	1.000000	0.71417	0.804000	0.32291	0.995000	0.86356	7.576000	0.82467	1.006000	0.39211	0.482000	0.46254	CAG		0.418	TMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254742.2			29	132	29	132	---	---	---	---
ONECUT1	3175	broad.mit.edu	37	15	53081026	53081026	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr15:53081026C>A	ENST00000305901.5	-	1	1183	c.1056G>T	c.(1054-1056)aaG>aaT	p.K352N	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	352					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.K352N(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		CCTGCAGCCACTTCCACATCC	0.657																																						ENST00000305901.5																			1	Substitution - Missense(1)	p.K352N(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17						c.(1054-1056)aaG>aaT		one cut homeobox 1							43.0	46.0	45.0					15																	53081026		2194	4293	6487	SO:0001583	missense	3175				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr15:53081026C>A	U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"""Homeoboxes / CUT class"""	8138	protein-coding gene	gene with protein product		604164	"""one cut domain, family member 1"""	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.1056G>T	15.37:g.53081026C>A	ENSP00000302630:p.Lys352Asn		Somatic				ONECUT1_ENST00000561401.2_Intron	p.K352N	NM_004498.2	NP_004489.1	WXS	Illumina GAIIx	Phase_I	Q9UBC0	HNF6_HUMAN		all cancers(107;0.0708)	1	1183	-			352					B2RTV4|Q99744|Q9UMR6	Missense_Mutation	SNP	ENST00000305901.5	37	c.1056G>T	CCDS10150.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817246	0.32145	.	.	ENSG00000169856	ENST00000305901	T	0.43688	0.94	4.32	3.4	0.38934	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.055979	0.64402	N	0.000002	T	0.36026	0.0952	N	0.05306	-0.075	0.80722	D	1	D	0.53745	0.962	P	0.61328	0.887	T	0.16719	-1.0393	10	0.30078	T	0.28	-18.1963	10.9199	0.47158	0.0:0.9068:0.0:0.0932	.	352	Q9UBC0	HNF6_HUMAN	N	352	ENSP00000302630:K352N	ENSP00000302630:K352N	K	-	3	2	ONECUT1	50868318	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.978000	0.40598	1.018000	0.39521	0.514000	0.50259	AAG		0.657	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2			20	62	20	62	---	---	---	---
CLDN9	9080	broad.mit.edu	37	16	3063524	3063524	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr16:3063524G>C	ENST00000445369.2	+	1	1068	c.161G>C	c.(160-162)tGc>tCc	p.C54S		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	54					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.C54S(1)		endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						TGGATGTCCTGCGTGGTGCAG	0.657																																						ENST00000445369.2																			1	Substitution - Missense(1)	p.C54S(1)	prostate(1)	endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						c.(160-162)tGc>tCc		claudin 9							137.0	109.0	119.0					16																	3063524		2198	4300	6498	SO:0001583	missense	9080				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr16:3063524G>C	AJ130941	CCDS10487.1	16p13.3	2008-08-01			ENSG00000213937	ENSG00000213937		"""Claudins"""	2051	protein-coding gene	gene with protein product		615799				9441748, 18234789	Standard	NM_020982		Approved		uc010uwo.1	O95484	OTTHUMG00000129000	ENST00000445369.2:c.161G>C	16.37:g.3063524G>C	ENSP00000398017:p.Cys54Ser		Somatic					p.C54S	NM_020982.3	NP_066192.1	WXS	Illumina GAIIx	Phase_I	O95484	CLD9_HUMAN			1	1068	+			54						Missense_Mutation	SNP	ENST00000445369.2	37	c.161G>C	CCDS10487.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590527	0.86851	.	.	ENSG00000213937	ENST00000445369	D	0.98207	-4.79	4.88	4.88	0.63580	Claudin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99465	0.9810	H	0.99516	4.605	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.97860	1.0280	10	0.87932	D	0	.	15.5702	0.76330	0.0:0.0:1.0:0.0	.	54	O95484	CLD9_HUMAN	S	54	ENSP00000398017:C54S	ENSP00000398017:C54S	C	+	2	0	CLDN9	3003525	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	9.652000	0.98499	2.509000	0.84616	0.591000	0.81541	TGC		0.657	CLDN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250989.1	NM_020982		24	130	24	130	---	---	---	---
IL4R	3566	broad.mit.edu	37	16	27373986	27373986	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr16:27373986G>T	ENST00000395762.2	+	11	1572	c.1313G>T	c.(1312-1314)aGt>aTt	p.S438I	IL4R_ENST00000380922.3_Missense_Mutation_p.S423I|IL4R_ENST00000170630.2_Missense_Mutation_p.S438I|IL4R_ENST00000543915.2_Missense_Mutation_p.S438I	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	438	Required for IRS1 activation and IL4- induced cell growth.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)	p.S438I(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CCTTCGGGAAGTACGAGTGCT	0.612																																						ENST00000395762.2																			1	Substitution - Missense(1)	p.S438I(1)	prostate(1)	breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(1312-1314)aGt>aTt		interleukin 4 receptor							72.0	71.0	71.0					16																	27373986		2197	4300	6497	SO:0001583	missense	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27373986G>T	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1313G>T	16.37:g.27373986G>T	ENSP00000379111:p.Ser438Ile		Somatic				IL4R_ENST00000543915.2_Missense_Mutation_p.S438I|IL4R_ENST00000380922.3_Missense_Mutation_p.S423I|IL4R_ENST00000170630.2_Missense_Mutation_p.S438I	p.S438I	NM_000418.3	NP_000409.1	WXS	Illumina GAIIx	Phase_I	P24394	IL4RA_HUMAN			11	1572	+			438			Required for IRS1 activation and IL4- induced cell growth.		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	c.1313G>T	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	g	13.17	2.156207	0.38021	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.10573	2.86;2.86;2.86;2.86	5.31	1.05	0.20165	.	8.341870	0.00166	N	0.000002	T	0.12135	0.0295	L	0.46157	1.445	0.09310	N	1	P;P;P	0.49961	0.93;0.93;0.93	B;B;B	0.39068	0.289;0.289;0.289	T	0.36212	-0.9757	10	0.72032	D	0.01	-15.272	7.6017	0.28079	0.3741:0.0:0.6259:0.0	.	423;438;438	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	I	438;438;423;438	ENSP00000379111:S438I;ENSP00000441667:S438I;ENSP00000370309:S423I;ENSP00000170630:S438I	ENSP00000170630:S438I	S	+	2	0	IL4R	27281487	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.525000	0.06214	0.224000	0.20940	-0.140000	0.14226	AGT		0.612	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			35	141	35	141	---	---	---	---
PLCB4	5332	broad.mit.edu	37	20	9364889	9364889	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr20:9364889G>A	ENST00000378493.1	+	11	910	c.895G>A	c.(895-897)Gat>Aat	p.D299N	PLCB4_ENST00000278655.4_Missense_Mutation_p.D299N|PLCB4_ENST00000378501.2_Missense_Mutation_p.D299N|PLCB4_ENST00000334005.3_Missense_Mutation_p.D299N|PLCB4_ENST00000414679.2_Missense_Mutation_p.D299N|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.D299N			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	299					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.D299N(2)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TCTGATGTCAGATGAAAACGC	0.408																																						ENST00000378501.2																			2	Substitution - Missense(2)	p.D299N(2)	prostate(2)	NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(895-897)Gat>Aat		phospholipase C, beta 4							182.0	175.0	177.0					20																	9364889		2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9364889G>A		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.895G>A	20.37:g.9364889G>A	ENSP00000367754:p.Asp299Asn		Somatic				PLCB4_ENST00000334005.3_Missense_Mutation_p.D299N|PLCB4_ENST00000414679.2_Missense_Mutation_p.D299N|PLCB4_ENST00000378473.3_Missense_Mutation_p.D299N|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.D299N|PLCB4_ENST00000278655.4_Missense_Mutation_p.D299N	p.D299N	NM_000933.3	NP_000924.3	WXS	Illumina GAIIx	Phase_I	Q15147	PLCB4_HUMAN			11	910	+			299					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.895G>A	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	G	36	5.618949	0.96649	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	5.93	5.93	0.95920	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.72078	0.3416	M	0.78285	2.405	0.80722	D	1	D;D;D;D	0.89917	1.0;0.964;0.997;1.0	D;P;D;D	0.81914	0.995;0.879;0.992;0.992	T	0.73553	-0.3946	10	0.87932	D	0	.	20.3363	0.98740	0.0:0.0:1.0:0.0	.	299;146;299;299	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	N	299;299;299;299;299;135	ENSP00000334105:D299N;ENSP00000367734:D299N;ENSP00000278655:D299N;ENSP00000367754:D299N;ENSP00000367762:D299N;ENSP00000390616:D135N	ENSP00000278655:D299N	D	+	1	0	PLCB4	9312889	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.814000	0.96858	0.563000	0.77884	GAT		0.408	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			12	226	12	226	---	---	---	---
TRAPPC10	7109	broad.mit.edu	37	21	45523339	45523339	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr21:45523339A>G	ENST00000291574.4	+	23	3882	c.3707A>G	c.(3706-3708)aAc>aGc	p.N1236S		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1236					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)	p.N1236S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CAGGTCTTCAACTCCAGCTCG	0.622																																						ENST00000291574.4																			1	Substitution - Missense(1)	p.N1236S(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(3706-3708)aAc>aGc		trafficking protein particle complex 10							36.0	34.0	34.0					21																	45523339		2203	4300	6503	SO:0001583	missense	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45523339A>G	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.3707A>G	21.37:g.45523339A>G	ENSP00000291574:p.Asn1236Ser		Somatic					p.N1236S	NM_003274.4	NP_003265.3	WXS	Illumina GAIIx	Phase_I	P48553	TPC10_HUMAN			23	3882	+			1236					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	c.3707A>G	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	A	13.43	2.236036	0.39498	.	.	ENSG00000160218	ENST00000291574;ENST00000542855	T	0.26810	1.71	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.26882	0.0658	L	0.42245	1.32	0.53688	D	0.999974	P;P	0.47034	0.889;0.549	B;B	0.43658	0.426;0.27	T	0.02404	-1.1164	10	0.41790	T	0.15	.	14.835	0.70175	1.0:0.0:0.0:0.0	.	495;1236	B4DI17;P48553	.;TPC10_HUMAN	S	1236;367	ENSP00000291574:N1236S	ENSP00000291574:N1236S	N	+	2	0	TRAPPC10	44347767	1.000000	0.71417	0.975000	0.42487	0.464000	0.32679	6.915000	0.75770	1.959000	0.56917	0.533000	0.62120	AAC		0.622	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		7	39	7	39	---	---	---	---
GNB1L	54584	broad.mit.edu	37	22	19808139	19808139	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr22:19808139T>G	ENST00000329517.6	-	4	472	c.236A>C	c.(235-237)cAg>cCg	p.Q79P	GNB1L_ENST00000403325.1_Missense_Mutation_p.Q79P|GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000405009.1_Missense_Mutation_p.Q79P	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	79					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)		p.Q79P(1)		breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					CTGGCGCCCCTGGGGCAGCGT	0.657																																						ENST00000329517.6																			1	Substitution - Missense(1)	p.Q79P(1)	prostate(1)	breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12						c.(235-237)cAg>cCg		guanine nucleotide binding protein (G protein), beta polypeptide 1-like							28.0	33.0	32.0					22																	19808139		2203	4299	6502	SO:0001583	missense	54584				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular		g.chr22:19808139T>G	AF238328	CCDS13768.1	22q11.2	2013-05-21			ENSG00000185838	ENSG00000185838		"""WD repeat domain containing"""	4397	protein-coding gene	gene with protein product		610778				11072084	Standard	NM_053004		Approved	GY2, WDR14	uc002zqf.1	Q9BYB4	OTTHUMG00000150279	ENST00000329517.6:c.236A>C	22.37:g.19808139T>G	ENSP00000331313:p.Gln79Pro		Somatic				GNB1L_ENST00000405009.1_Missense_Mutation_p.Q79P|GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000403325.1_Missense_Mutation_p.Q79P	p.Q79P	NM_053004.2	NP_443730.1	WXS	Illumina GAIIx	Phase_I	Q9BYB4	GNB1L_HUMAN			4	472	-	Colorectal(54;0.0993)		79					Q9H2S2|Q9H4M4	Missense_Mutation	SNP	ENST00000329517.6	37	c.236A>C	CCDS13768.1	.	.	.	.	.	.	.	.	.	.	T	11.19	1.565522	0.27915	.	.	ENSG00000185838	ENST00000329517;ENST00000403325;ENST00000405009	T;T;T	0.37584	1.19;1.19;5.0	5.57	2.2	0.27929	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.771754	0.11573	U	0.550516	T	0.24353	0.0590	L	0.58101	1.795	0.19945	N	0.999946	P	0.47302	0.893	B	0.31290	0.127	T	0.38045	-0.9679	10	0.87932	D	0	-16.2102	1.8293	0.03127	0.1681:0.0893:0.1757:0.5669	.	79	Q9BYB4	GNB1L_HUMAN	P	79	ENSP00000331313:Q79P;ENSP00000385154:Q79P;ENSP00000384626:Q79P	ENSP00000331313:Q79P	Q	-	2	0	GNB1L	18188139	0.348000	0.24861	0.734000	0.30879	0.972000	0.66771	0.530000	0.23036	0.356000	0.24157	0.455000	0.32223	CAG		0.657	GNB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075202.1			5	68	5	68	---	---	---	---
TEX13B	56156	broad.mit.edu	37	X	107225170	107225170	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chrX:107225170A>G	ENST00000302917.1	-	2	280	c.188T>C	c.(187-189)gTc>gCc	p.V63A		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	63								p.V63A(2)		breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						GGCCTCTTTGACCTCGCTGGG	0.597																																						ENST00000302917.1																			2	Substitution - Missense(2)	p.V63A(2)	prostate(1)|lung(1)	breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(187-189)gTc>gCc		testis expressed 13B							88.0	83.0	85.0					X																	107225170		2199	4300	6499	SO:0001583	missense	56156							g.chrX:107225170A>G	AF285598	CCDS14534.1	Xq23	2008-02-05	2007-03-13		ENSG00000170925	ENSG00000170925			11736	protein-coding gene	gene with protein product		300313	"""testis expressed sequence 13B"""			11279525	Standard	NM_031273		Approved	TSGA5, TGC3B	uc004enn.1	Q9BXU2	OTTHUMG00000022174	ENST00000302917.1:c.188T>C	X.37:g.107225170A>G	ENSP00000303777:p.Val63Ala		Somatic					p.V63A	NM_031273.2	NP_112563.1	WXS	Illumina GAIIx	Phase_I	Q9BXU2	TX13B_HUMAN			2	280	-			63					Q5JYF6	Missense_Mutation	SNP	ENST00000302917.1	37	c.188T>C	CCDS14534.1	.	.	.	.	.	.	.	.	.	.	A	0.899	-0.722879	0.03158	.	.	ENSG00000170925	ENST00000302917	.	.	.	3.28	-0.343	0.12632	.	.	.	.	.	T	0.17831	0.0428	N	0.14661	0.345	0.09310	N	1	B	0.28713	0.22	B	0.25140	0.058	T	0.18999	-1.0319	8	0.33141	T	0.24	.	5.766	0.18227	0.5936:0.0:0.4064:0.0	.	63	Q9BXU2	TX13B_HUMAN	A	63	.	ENSP00000303777:V63A	V	-	2	0	TEX13B	107111826	0.723000	0.28027	0.027000	0.17364	0.013000	0.08279	0.127000	0.15790	-0.187000	0.10516	-0.404000	0.06349	GTC		0.597	TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057857.1			16	171	16	171	---	---	---	---
GPR50	9248	broad.mit.edu	37	X	150348254	150348254	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chrX:150348254G>A	ENST00000218316.3	+	2	268	c.199G>A	c.(199-201)Gtg>Atg	p.V67M	AF003625.3_ENST00000602313.1_lincRNA|GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	67					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)	p.V67M(3)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CAACATCTTCGTGGTCAGTCT	0.483																																						ENST00000218316.3																			3	Substitution - Missense(3)	p.V67M(3)	prostate(3)	breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38						c.(199-201)Gtg>Atg		G protein-coupled receptor 50							292.0	284.0	287.0					X																	150348254		2098	4207	6305	SO:0001583	missense	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150348254G>A	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.199G>A	X.37:g.150348254G>A	ENSP00000218316:p.Val67Met		Somatic					p.V67M	NM_004224.3	NP_004215.2	WXS	Illumina GAIIx	Phase_I	Q13585	MTR1L_HUMAN			2	268	+	Acute lymphoblastic leukemia(192;6.56e-05)		67					Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	c.199G>A	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.701596	0.48307	.	.	ENSG00000102195	ENST00000535473;ENST00000218316	T	0.35789	1.29	4.26	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.68805	0.3041	H	0.94385	3.53	0.47123	D	0.999324	D;D	0.89917	1.0;0.995	D;D	0.76071	0.987;0.956	T	0.78942	-0.2005	10	0.87932	D	0	-10.9547	13.559	0.61777	0.0:0.0:1.0:0.0	.	20;67	F5H1S3;Q13585	.;MTR1L_HUMAN	M	20;67	ENSP00000218316:V67M	ENSP00000218316:V67M	V	+	1	0	GPR50	150098912	1.000000	0.71417	0.853000	0.33588	0.299000	0.27559	9.311000	0.96282	1.850000	0.53721	0.523000	0.50628	GTG		0.483	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		16	437	16	437	---	---	---	---
MT-ATP6	4508	broad.mit.edu	37	M	8802	8802	+	Silent	SNP	T	T	C			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chrM:8802T>C	ENST00000361899.2	+	1	276	c.276T>C	c.(274-276)ttT>ttC	p.F92F	MT-ND4L_ENST00000361335.1_5'Flank|MT-ND3_ENST00000361227.2_5'Flank|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-ND4_ENST00000361381.2_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TR_ENST00000387439.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TG_ENST00000387429.1_RNA			P00846	ATP6_HUMAN	mitochondrially encoded ATP synthase 6	92					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(7)|kidney(8)|prostate(1)	18						CCTCACTCATTTACACCAACC	0.438																																						ENST00000361899.2																			0				breast(2)|endometrium(7)|kidney(8)|prostate(1)	18						c.(274-276)ttT>ttC		mitochondrially encoded ATP synthase 6																																				SO:0001819	synonymous_variant	4508							g.chrM:8802T>C			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198899	ENSG00000198899		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	7414	protein-coding gene	gene with protein product		516060	"""ATP synthase 6"", ""spicular retinitis pigmentosa with dementia, seizures, ataxia, proximal muscle weakness and sensory deficit"""	MTATP6, RP		7219534	Standard			Approved	ATP6, ATPase-6, Su6m		P00846		ENST00000361899.2:c.276T>C	M.37:g.8802T>C			Somatic					p.F92F			WXS	Illumina GAIIx	Phase_I					1	276	+								Q34772|Q5S8W5|Q5S9E7|Q5S9I6|Q5SA31|Q6RPB7|Q6VHC0|Q6VHE0|Q6WQF4|Q7YCC1|Q7YCF8|Q7YCG1|Q85KU8|Q85KX1|Q85L05|Q8HNQ4|Q8HNQ8|Q8WCX6|Q9B2U5|Q9B2Z2	Silent	SNP	ENST00000361899.2	37	c.276T>C																																																																																					0.438	MT-ATP6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024031		5	62	5	62	---	---	---	---
MT-ND5	4540	broad.mit.edu	37	M	13464	13464	+	Silent	SNP	C	C	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chrM:13464C>T	ENST00000361567.2	+	1	1128	c.1128C>T	c.(1126-1128)ggC>ggT	p.G376G	MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TR_ENST00000387439.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-TH_ENST00000387441.1_RNA|MT-CYB_ENST00000361789.2_5'Flank			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	376					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						CTCACCATTGGCAGCCTAGCA	0.448																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(1126-1128)ggC>ggT		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001819	synonymous_variant	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:13464C>T			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.1128C>T	M.37:g.13464C>T			Somatic					p.G376G			WXS	Illumina GAIIx	Phase_I	P03915	NU5M_HUMAN			1	1128	+			376					Q34773|Q8WCY3	Silent	SNP	ENST00000361567.2	37	c.1128C>T																																																																																					0.448	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		5	75	5	75	---	---	---	---
