#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MCTP2	55784	broad.mit.edu	37	15	95013613	95013613	+	Silent	SNP	G	G	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr15:95013613G>A	ENST00000357742.4	+	20	2412	c.2412G>A	c.(2410-2412)ctG>ctA	p.L804L	MCTP2_ENST00000451018.3_Silent_p.L749L	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	804					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GTTTGATTCTGGCAGCAGCCA	0.418																																						ENST00000357742.4																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49						c.(2410-2412)ctG>ctA		multiple C2 domains, transmembrane 2							194.0	185.0	188.0					15																	95013613		2197	4298	6495	SO:0001819	synonymous_variant	55784				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr15:95013613G>A	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.2412G>A	15.37:g.95013613G>A						MCTP2_ENST00000451018.3_Silent_p.L749L	p.L804L	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		20	2412	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		804					A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Silent	SNP	ENST00000357742.4	37	c.2412G>A	CCDS32338.1																																																																																				0.418	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		4	171	0	0	0	0.001168	0	4	171				
AGK	55750	broad.mit.edu	37	7	141351367	141351367	+	Silent	SNP	G	G	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr7:141351367G>A	ENST00000355413.4	+	15	1349	c.1089G>A	c.(1087-1089)acG>acA	p.T363T	AGK_ENST00000535825.1_3'UTR|RP5-894A10.2_ENST00000467537.1_RNA|AGK_ENST00000473247.1_Silent_p.T335T	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	363					ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					TGGAGGGCACGGAGTGTCTCC	0.552																																						ENST00000355413.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17						c.(1087-1089)acG>acA		acylglycerol kinase							108.0	85.0	93.0					7																	141351367		2203	4300	6503	SO:0001819	synonymous_variant	55750				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity	g.chr7:141351367G>A	BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"""multiple substrate lipid kinase"""	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.1089G>A	7.37:g.141351367G>A						AGK_ENST00000473247.1_Silent_p.T335T|AGK_ENST00000535825.1_3'UTR	p.T363T	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN			15	1349	+	Melanoma(164;0.0171)		363					Q75KN1|Q96GC3|Q9NP48	Silent	SNP	ENST00000355413.4	37	c.1089G>A	CCDS5865.1																																																																																				0.552	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348969.1	NM_018238		5	78	0	0	0	0.001168	0	5	78				
MYH10	4628	broad.mit.edu	37	17	8409745	8409745	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr17:8409745C>T	ENST00000269243.4	-	25	3322	c.3184G>A	c.(3184-3186)Ggg>Agg	p.G1062R	MYH10_ENST00000360416.3_Missense_Mutation_p.G1093R|MYH10_ENST00000396239.1_Missense_Mutation_p.G1083R|MYH10_ENST00000379980.4_Missense_Mutation_p.G1078R	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1062					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GTCGTCTCCCCGTCGAGTTTT	0.527																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(3277-3279)Ggg>Agg		myosin, heavy chain 10, non-muscle							142.0	122.0	129.0					17																	8409745		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8409745C>T	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.3184G>A	17.37:g.8409745C>T	ENSP00000269243:p.Gly1062Arg					MYH10_ENST00000379980.4_Missense_Mutation_p.G1078R|MYH10_ENST00000269243.4_Missense_Mutation_p.G1062R|MYH10_ENST00000396239.1_Missense_Mutation_p.G1083R	p.G1093R	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			27	3415	-			1062					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.3277G>A	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668570	0.88348	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.93811	-3.29;-3.29;-3.29;-3.29	4.87	4.87	0.63330	.	0.106902	0.64402	D	0.000006	D	0.96485	0.8853	M	0.85777	2.775	0.54753	D	0.999988	P;P;P	0.49696	0.927;0.791;0.927	P;P;P	0.58210	0.689;0.835;0.689	D	0.97021	0.9743	10	0.87932	D	0	.	18.5613	0.91101	0.0:1.0:0.0:0.0	.	1071;1093;1062	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	R	1062;1093;1083;1078	ENSP00000269243:G1062R;ENSP00000353590:G1093R;ENSP00000379539:G1083R;ENSP00000369315:G1078R	ENSP00000269243:G1062R	G	-	1	0	MYH10	8350470	0.997000	0.39634	0.227000	0.23927	0.563000	0.35712	5.867000	0.69597	2.672000	0.90937	0.563000	0.77884	GGG		0.527	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			24	69	0	0	0	0.004656	0	24	69				
ACR	49	broad.mit.edu	37	22	51178322	51178322	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr22:51178322G>A	ENST00000216139.5	+	3	522	c.482G>A	c.(481-483)gGc>gAc	p.G161D	AC002056.5_ENST00000532913.1_RNA|ACR_ENST00000529621.1_Missense_Mutation_p.G161D|AC000036.4_ENST00000449652.1_RNA	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	161	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acrosome matrix dispersal (GO:0002077)|acrosome reaction (GO:0007340)|activation of adenylate cyclase activity (GO:0007190)|binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|response to steroid hormone (GO:0048545)|single fertilization (GO:0007338)	acrosomal matrix (GO:0043159)|extracellular region (GO:0005576)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|protein complex (GO:0043234)	amidase activity (GO:0004040)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|drug binding (GO:0008144)|fucose binding (GO:0042806)|mannose binding (GO:0005537)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		ATTGGGCCGGGCTGCCTGCCC	0.567																																						ENST00000216139.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7						c.(481-483)gGc>gAc		acrosin							63.0	70.0	68.0					22																	51178322		2203	4300	6503	SO:0001583	missense	49				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding	g.chr22:51178322G>A	CR456366	CCDS14101.1	22q13.33	2012-10-23	2012-10-23		ENSG00000100312	ENSG00000100312	3.4.21.10		126	protein-coding gene	gene with protein product	"""preproacrosin"", ""acrosin light and heavy chain prepropeptide"""	102480				2298447, 12398221	Standard	NM_001097		Approved		uc003bnh.4	P10323	OTTHUMG00000150155	ENST00000216139.5:c.482G>A	22.37:g.51178322G>A	ENSP00000216139:p.Gly161Asp					ACR_ENST00000529621.1_Missense_Mutation_p.G161D	p.G161D	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)	3	522	+		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	161			Peptidase S1.		Q6ICK2	Missense_Mutation	SNP	ENST00000216139.5	37	c.482G>A	CCDS14101.1	.	.	.	.	.	.	.	.	.	.	g	17.39	3.378366	0.61735	.	.	ENSG00000100312	ENST00000216139;ENST00000529621	T;D	0.92858	0.28;-3.12	4.52	0.904	0.19302	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.408062	0.18094	N	0.151898	D	0.91626	0.7354	N	0.19112	0.55	0.23720	N	0.997023	D;D	0.89917	0.997;1.0	D;D	0.91635	0.995;0.999	D	0.85534	0.1211	10	0.54805	T	0.06	-9.7265	13.7399	0.62840	0.0:0.6254:0.3746:0.0	.	161;161	E9PLV5;P10323	.;ACRO_HUMAN	D	161	ENSP00000216139:G161D;ENSP00000435120:G161D	ENSP00000216139:G161D	G	+	2	0	ACR	49525188	0.055000	0.20627	0.722000	0.30670	0.934000	0.57294	0.017000	0.13399	0.607000	0.29982	0.455000	0.32223	GGC		0.567	ACR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000316605.2	NM_001097		18	104	0	0	0	0.012319	0	18	104				
CNTLN	54875	broad.mit.edu	37	9	17273768	17273768	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr9:17273768T>C	ENST00000380647.3	+	6	971	c.887T>C	c.(886-888)gTt>gCt	p.V296A	CNTLN_ENST00000262360.5_Missense_Mutation_p.V296A|CNTLN_ENST00000425824.1_Missense_Mutation_p.V296A|CNTLN_ENST00000380641.4_Missense_Mutation_p.V296A			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	296					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AGGAAAGAAGTTGAAGTATCA	0.308																																						ENST00000380647.3																			0				breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(886-888)gTt>gCt		centlein, centrosomal protein							97.0	98.0	98.0					9																	17273768		1821	4073	5894	SO:0001583	missense	54875					centriole|membrane	two-component sensor activity	g.chr9:17273768T>C	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.887T>C	9.37:g.17273768T>C	ENSP00000370021:p.Val296Ala					CNTLN_ENST00000380641.4_Missense_Mutation_p.V296A|CNTLN_ENST00000425824.1_Missense_Mutation_p.V296A|CNTLN_ENST00000262360.5_Missense_Mutation_p.V296A	p.V296A			Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	6	971	+			296					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	c.887T>C	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	T	13.21	2.169822	0.38315	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360;ENST00000380641	T;T;T;T	0.10763	2.84;2.84;3.35;2.84	4.48	4.48	0.54585	.	.	.	.	.	T	0.06781	0.0173	N	0.08118	0	0.23611	N	0.9973	B;B;B	0.18741	0.003;0.003;0.03	B;B;B	0.18561	0.006;0.006;0.022	T	0.31194	-0.9952	9	0.39692	T	0.17	.	12.3066	0.54906	0.0:0.0:0.0:1.0	.	296;296;296	C9J1F9;Q9NXG0-2;Q9NXG0-3	.;.;.	A	296	ENSP00000370021:V296A;ENSP00000392798:V296A;ENSP00000262360:V296A;ENSP00000370015:V296A	ENSP00000262360:V296A	V	+	2	0	CNTLN	17263768	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	4.348000	0.59379	1.788000	0.52465	0.254000	0.18369	GTT		0.308	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		14	83	0	0	0	0.002450	0	14	83				
TMPRSS9	360200	broad.mit.edu	37	19	2421893	2421893	+	Silent	SNP	C	C	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr19:2421893C>T	ENST00000332578.3	+	13	2094	c.2094C>T	c.(2092-2094)ggC>ggT	p.G698G		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	698	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGCCCCTGGCGTGTTTTATC	0.617																																						ENST00000332578.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2092-2094)ggC>ggT		transmembrane protease, serine 9							61.0	65.0	63.0					19																	2421893		2203	4300	6503	SO:0001819	synonymous_variant	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2421893C>T	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.2094C>T	19.37:g.2421893C>T							p.G698G	NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	13	2094	+			698			Peptidase S1 2.		Q6ZND6|Q7Z411	Silent	SNP	ENST00000332578.3	37	c.2094C>T	CCDS12088.1																																																																																				0.617	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		11	137	0	0	0	0.013537	0	11	137				
ROBO1	6091	broad.mit.edu	37	3	78685112	78685112	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr3:78685112G>A	ENST00000464233.1	-	23	3297	c.3184C>T	c.(3184-3186)Cgt>Tgt	p.R1062C	ROBO1_ENST00000467549.1_Intron|ROBO1_ENST00000495273.1_Missense_Mutation_p.R1017C|ROBO1_ENST00000436010.2_Missense_Mutation_p.R1023C	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1062					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTGACAAAACGCCCATCCTTC	0.468																																						ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(3067-3069)Cgt>Tgt		roundabout, axon guidance receptor, homolog 1 (Drosophila)							151.0	154.0	153.0					3																	78685112		2100	4224	6324	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78685112G>A	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.3184C>T	3.37:g.78685112G>A	ENSP00000420321:p.Arg1062Cys					ROBO1_ENST00000464233.1_Missense_Mutation_p.R1062C|ROBO1_ENST00000467549.1_Intron|ROBO1_ENST00000495273.1_Missense_Mutation_p.R1017C	p.R1023C			Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	21	4064	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	1062					B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.3067C>T	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936108	0.52972	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000398414	T;T;T	0.61980	0.09;0.06;0.12	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.71375	0.3332	L	0.44542	1.39	0.80722	D	1	D;D;B;D	0.89917	1.0;0.996;0.092;0.999	D;P;B;D	0.83275	0.996;0.786;0.019;0.921	T	0.68644	-0.5354	9	.	.	.	.	13.1478	0.59472	0.0:0.0:0.7365:0.2635	.	1026;1062;1017;1023	Q9Y6N7-3;Q9Y6N7;B2RXI1;Q9Y6N7-4	.;ROBO1_HUMAN;.;.	C	1023;1017;1062;1017;1066	ENSP00000406043:R1023C;ENSP00000420321:R1062C;ENSP00000420637:R1017C	.	R	-	1	0	ROBO1	78767802	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	4.581000	0.60949	2.765000	0.95021	0.650000	0.86243	CGT		0.468	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		6	116	0	0	0	0.001168	0	6	116				
INPP5D	3635	broad.mit.edu	37	2	233925310	233925310	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr2:233925310C>T	ENST00000359570.5	+	1	122	c.122C>T	c.(121-123)gCg>gTg	p.A41V	INPP5D_ENST00000538935.1_Missense_Mutation_p.A41V			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	41	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CGGGCATACGCGCTCTGCGTG	0.612																																					NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			0				central_nervous_system(1)|ovary(1)	2						c.(121-123)gCg>gTg		inositol polyphosphate-5-phosphatase, 145kDa							47.0	52.0	50.0					2																	233925310		2078	4202	6280	SO:0001583	missense	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:233925310C>T	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.122C>T	2.37:g.233925310C>T	ENSP00000352575:p.Ala41Val					INPP5D_ENST00000538935.1_Missense_Mutation_p.A41V	p.A41V			Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	1	122	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	41			SH2.		O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37	c.122C>T		.	.	.	.	.	.	.	.	.	.	C	27.8	4.861212	0.91433	.	.	ENSG00000168918	ENST00000422935;ENST00000451407;ENST00000359570;ENST00000538935	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	4.83	3.93	0.45458	SH2 motif (4);	0.179904	0.48286	D	0.000189	D	0.92789	0.7707	.	.	.	0.48236	D	0.999614	D;D	0.89917	0.999;1.0	D;D	0.67103	0.915;0.949	D	0.93471	0.6819	9	0.87932	D	0	.	14.3637	0.66789	0.1492:0.8508:0.0:0.0	.	41;41	Q92835-2;Q92835	.;SHIP1_HUMAN	V	41	ENSP00000409018:A41V;ENSP00000415253:A41V;ENSP00000352575:A41V;ENSP00000441010:A41V	ENSP00000352575:A41V	A	+	2	0	INPP5D	233633554	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	7.130000	0.77235	1.015000	0.39444	0.485000	0.47835	GCG		0.612	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		12	51	0	0	0	0.010729	0	12	51				
FAM214A	56204	broad.mit.edu	37	15	52901525	52901525	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr15:52901525T>G	ENST00000261844.7	-	6	1738	c.1586A>C	c.(1585-1587)aAt>aCt	p.N529T	FAM214A_ENST00000546305.2_Missense_Mutation_p.N536T	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	529																	CTTCAACAAATTTTTGTCTTC	0.383																																						ENST00000261844.7																			0											c.(1585-1587)aAt>aCt		family with sequence similarity 214, member A							77.0	74.0	75.0					15																	52901525		1835	4100	5935	SO:0001583	missense	56204							g.chr15:52901525T>G	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.1586A>C	15.37:g.52901525T>G	ENSP00000261844:p.Asn529Thr					FAM214A_ENST00000546305.2_Missense_Mutation_p.N536T	p.N529T	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN			6	1738	-			529					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	ENST00000261844.7	37	c.1586A>C	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	T	6.094	0.385595	0.11524	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.28895	1.59;1.59	6.17	3.7	0.42460	.	0.513373	0.23354	N	0.049095	T	0.21186	0.0510	L	0.29908	0.895	0.09310	N	0.999999	B;B	0.12630	0.006;0.003	B;B	0.12156	0.007;0.003	T	0.16335	-1.0406	10	0.09843	T	0.71	.	14.2781	0.66194	0.0:0.0:0.252:0.748	.	536;529	F5H8G0;Q32MH5	.;K1370_HUMAN	T	529;529;528;536	ENSP00000261844:N529T;ENSP00000443598:N536T	ENSP00000261844:N529T	N	-	2	0	KIAA1370	50688817	0.986000	0.35501	0.305000	0.25099	0.996000	0.88848	1.771000	0.38542	1.134000	0.42165	0.533000	0.62120	AAT		0.383	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		31	85	0	0	0	0.007291	0	31	85				
MAST4	375449	broad.mit.edu	37	5	66458987	66458987	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr5:66458987C>T	ENST00000403625.2	+	29	4275	c.3980C>T	c.(3979-3981)tCc>tTc	p.S1327F	MAST4_ENST00000261569.7_Missense_Mutation_p.S1133F|MAST4_ENST00000405643.1_Missense_Mutation_p.S1148F|MAST4_ENST00000404260.3_Missense_Mutation_p.S1330F|MAST4_ENST00000403666.1_Missense_Mutation_p.S1138F	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1330	Ser-rich.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		ACTAATTCCTCCCAGAGCAGC	0.552																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(3988-3990)tCc>tTc		microtubule associated serine/threonine kinase family member 4							108.0	117.0	114.0					5																	66458987		1934	4118	6052	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66458987C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.3980C>T	5.37:g.66458987C>T	ENSP00000385727:p.Ser1327Phe					MAST4_ENST00000403625.2_Missense_Mutation_p.S1327F|MAST4_ENST00000405643.1_Missense_Mutation_p.S1148F|MAST4_ENST00000403666.1_Missense_Mutation_p.S1138F|MAST4_ENST00000261569.7_Missense_Mutation_p.S1133F	p.S1330F			O15021	MAST4_HUMAN		Lung(70;0.011)	29	4297	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	1330			Ser-rich.		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.3989C>T	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.629424	0.87660	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.74	5.74	0.90152	.	0.056550	0.64402	D	0.000001	T	0.70842	0.3270	M	0.85373	2.75	0.52099	D	0.999941	D;D	0.89917	0.999;1.0	D;D	0.83275	0.994;0.996	T	0.74250	-0.3726	10	0.72032	D	0.01	-11.0371	19.9853	0.97342	0.0:1.0:0.0:0.0	.	1330;1138	O15021;O15021-3	MAST4_HUMAN;.	F	1330;1327;1138;1148;1148;1133	ENSP00000385048:S1330F;ENSP00000385727:S1327F;ENSP00000384313:S1138F;ENSP00000384099:S1148F;ENSP00000261569:S1133F	ENSP00000261569:S1133F	S	+	2	0	MAST4	66494743	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.776000	0.85560	2.741000	0.93983	0.549000	0.68633	TCC		0.552	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			12	222	0	0	0	0.001855	0	12	222				
RYR2	6262	broad.mit.edu	37	1	237711848	237711848	+	Silent	SNP	G	G	A	rs566157997		TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr1:237711848G>A	ENST00000366574.2	+	26	3341	c.3024G>A	c.(3022-3024)gcG>gcA	p.A1008A	RYR2_ENST00000542537.1_Silent_p.A992A|RYR2_ENST00000360064.6_Silent_p.A1006A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1008	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGTGTGGGCGCGGGATCGAA	0.473													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19199	0.0		0.0	False		,,,				2504	0.0					ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(3022-3024)gcG>gcA		ryanodine receptor 2 (cardiac)							62.0	59.0	60.0					1																	237711848		1930	4146	6076	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237711848G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3024G>A	1.37:g.237711848G>A						RYR2_ENST00000542537.1_Silent_p.A992A|RYR2_ENST00000360064.6_Silent_p.A1006A	p.A1008A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		26	3341	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1008			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.3024G>A	CCDS55691.1																																																																																				0.473	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		12	41	0	0	0	0.010729	0	12	41				
TRIO	7204	broad.mit.edu	37	5	14363859	14363859	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr5:14363859T>G	ENST00000344204.4	+	14	2434	c.2410T>G	c.(2410-2412)Tct>Gct	p.S804A	TRIO_ENST00000509967.2_Missense_Mutation_p.S755A|TRIO_ENST00000537187.1_Missense_Mutation_p.S804A	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	804					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGACCTCGAGTCTTGGAATGA	0.438																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(2410-2412)Tct>Gct		trio Rho guanine nucleotide exchange factor							110.0	108.0	108.0					5																	14363859		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14363859T>G	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.2410T>G	5.37:g.14363859T>G	ENSP00000339299:p.Ser804Ala					TRIO_ENST00000509967.2_Missense_Mutation_p.S755A|TRIO_ENST00000537187.1_Missense_Mutation_p.S804A	p.S804A	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			14	2434	+	Lung NSC(4;0.000742)		804					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.2410T>G	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	T	7.185	0.590403	0.13812	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.42131	0.98;0.98;0.98	5.03	5.03	0.67393	.	0.119414	0.64402	D	0.000014	T	0.13372	0.0324	N	0.00707	-1.245	0.50632	D	0.999888	B;B;B	0.27416	0.002;0.178;0.012	B;B;B	0.24155	0.005;0.051;0.005	T	0.29822	-0.9999	10	0.05721	T	0.95	.	14.7897	0.69830	0.0:0.0:0.0:1.0	.	755;804;804	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	A	804;804;755;491	ENSP00000339299:S804A;ENSP00000446348:S804A;ENSP00000445592:S755A	ENSP00000339299:S804A	S	+	1	0	TRIO	14416859	1.000000	0.71417	0.999000	0.59377	0.910000	0.53928	4.017000	0.57167	1.908000	0.55244	0.533000	0.62120	TCT		0.438	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		6	85	0	0	0	0.001168	0	6	85				
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158|rs71318762	byFrequency	TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1				BMS1 pseudogene 20																		GCTGCCACATAAGTTGTCCTT	0.303													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		8984	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			0							g.chr22:22663087A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663087A>G								NR_027293.1						0	526	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.303	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	39	0	0	0	0.004672	0	3	39				
PAPSS2	9060	broad.mit.edu	37	10	89505689	89505689	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr10:89505689G>A	ENST00000361175.4	+	12	2176	c.1807G>A	c.(1807-1809)Gtc>Atc	p.V603I	PAPSS2_ENST00000427144.2_Missense_Mutation_p.V607I|PAPSS2_ENST00000456849.1_Missense_Mutation_p.V608I	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	603					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		AGCATGGAAGGTCCTGACAGA	0.463																																						ENST00000361175.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20						c.(1807-1809)Gtc>Atc		3'-phosphoadenosine 5'-phosphosulfate synthase 2							80.0	88.0	85.0					10																	89505689		2203	4300	6503	SO:0001583	missense	9060				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity	g.chr10:89505689G>A	AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.1807G>A	10.37:g.89505689G>A	ENSP00000354436:p.Val603Ile					PAPSS2_ENST00000456849.1_Missense_Mutation_p.V608I|PAPSS2_ENST00000427144.2_Missense_Mutation_p.V607I	p.V603I	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)	12	2176	+		Melanoma(5;0.019)|Colorectal(252;0.123)	603					Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Missense_Mutation	SNP	ENST00000361175.4	37	c.1807G>A	CCDS7385.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.264004	0.59431	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.30714	1.52;1.52;1.52	5.95	5.05	0.67936	Sulphate adenylyltransferase (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.051225	0.85682	N	0.000000	T	0.24967	0.0606	N	0.19112	0.55	0.80722	D	1	B;P	0.45902	0.023;0.868	B;P	0.46339	0.153;0.513	T	0.02603	-1.1135	10	0.14252	T	0.57	-25.4065	14.9077	0.70733	0.0681:0.0:0.9319:0.0	.	603;608	O95340;O95340-2	PAPS2_HUMAN;.	I	603;608;607;607	ENSP00000354436:V603I;ENSP00000406157:V608I;ENSP00000397123:V607I	ENSP00000354436:V603I	V	+	1	0	PAPSS2	89495669	1.000000	0.71417	0.973000	0.42090	0.995000	0.86356	5.473000	0.66774	1.530000	0.49136	0.655000	0.94253	GTC		0.463	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1			7	100	0	0	0	0.006214	0	7	100				
SS18	6760	broad.mit.edu	37	18	23612376	23612376	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr18:23612376T>G	ENST00000415083.2	-	10	1272	c.1217A>C	c.(1216-1218)tAt>tCt	p.Y406S	SS18_ENST00000539849.1_Missense_Mutation_p.Y324S|SS18_ENST00000269137.7_Missense_Mutation_p.Y375S|SS18_ENST00000545952.1_Missense_Mutation_p.Y323S|SS18_ENST00000542743.1_Missense_Mutation_p.Y323S|SS18_ENST00000542420.2_Missense_Mutation_p.Y383S	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	406	Gln-rich.				cell morphogenesis (GO:0000902)|ephrin receptor signaling pathway (GO:0048013)|intracellular signal transduction (GO:0035556)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					GTCATATCCATAAGGCCTCTG	0.453			T	"""SSX1,  SSX2"""	synovial sarcoma																																	ENST00000415083.2				Dom	yes		18	18q11.2	6760	T	"""synovial sarcoma translocation, chromosome 18"""			M	"""SSX1,  SSX2"""		synovial sarcoma	SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	0				endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19						c.(1216-1218)tAt>tCt		synovial sarcoma translocation, chromosome 18							212.0	190.0	197.0					18																	23612376		2203	4300	6503	SO:0001583	missense	6760				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	g.chr18:23612376T>G	X79201	CCDS32807.1, CCDS54183.1	18q11.2	2008-07-28				ENSG00000141380			11340	protein-coding gene	gene with protein product		600192		SSXT		8152806, 7951320, 16484776	Standard	XM_005258334		Approved	SYT	uc002kvm.3	Q15532		ENST00000415083.2:c.1217A>C	18.37:g.23612376T>G	ENSP00000414516:p.Tyr406Ser					SS18_ENST00000545952.1_Missense_Mutation_p.Y323S|SS18_ENST00000542743.1_Missense_Mutation_p.Y323S|SS18_ENST00000539849.1_Missense_Mutation_p.Y324S|SS18_ENST00000542420.2_Missense_Mutation_p.Y383S|SS18_ENST00000269137.7_Missense_Mutation_p.Y375S	p.Y406S	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN			10	1272	-	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)		406			Gln-rich.		B0YJ95|Q16404|Q4VAX1|Q9BXC6	Missense_Mutation	SNP	ENST00000415083.2	37	c.1217A>C	CCDS32807.1	.	.	.	.	.	.	.	.	.	.	T	17.25	3.342808	0.61073	.	.	ENSG00000141380	ENST00000415083;ENST00000269138;ENST00000269137;ENST00000542420;ENST00000542743;ENST00000539849;ENST00000545952;ENST00000539244	T;T;T;T;T	0.46063	0.88;1.0;0.99;0.97;0.99	5.01	5.01	0.66863	.	0.056198	0.64402	D	0.000001	T	0.37210	0.0995	L	0.46157	1.445	0.58432	D	0.999999	B;B;B	0.30482	0.18;0.281;0.281	B;B;B	0.22753	0.041;0.041;0.041	T	0.34329	-0.9833	10	0.87932	D	0	-5.8679	15.0182	0.71605	0.0:0.0:0.0:1.0	.	323;375;406	B4E2J6;Q4VAX0;Q15532	.;.;SSXT_HUMAN	S	409;406;375;383;323;324;323;121	ENSP00000269137:Y375S;ENSP00000438066:Y383S;ENSP00000444551:Y323S;ENSP00000444647:Y324S;ENSP00000443097:Y323S	ENSP00000269137:Y375S	Y	-	2	0	SS18	21866374	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.655000	0.83696	2.014000	0.59158	0.383000	0.25322	TAT		0.453	SS18-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446226.1			6	196	0	0	0	0.001984	0	6	196				
RXRG	6258	broad.mit.edu	37	1	165370515	165370515	+	Silent	SNP	C	C	T	rs149087358		TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr1:165370515C>T	ENST00000359842.5	-	10	1679	c.1377G>A	c.(1375-1377)ccG>ccA	p.P459P		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	459	Ligand-binding. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	TGATCTGCAGCGGGGTCTCCA	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13329	0.0		0.0	False		,,,				2504	0.0					ENST00000359842.5																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38						c.(1375-1377)ccG>ccA		retinoid X receptor, gamma	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	C		3,4403	6.2+/-15.9	0,3,2200	80.0	79.0	80.0		1377	-8.8	0.9	1	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RXRG	NM_006917.4		0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308		459/464	165370515	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	6258				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr1:165370515C>T	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.1377G>A	1.37:g.165370515C>T							p.P459P	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN			10	1679	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		459			Ligand-binding (By similarity).		A6NIP1|Q6IBU7	Silent	SNP	ENST00000359842.5	37	c.1377G>A	CCDS1248.1																																																																																				0.607	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917		22	94	0	0	0	0.003330	0	22	94				
KIF21B	23046	broad.mit.edu	37	1	200972744	200972744	+	Silent	SNP	C	C	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr1:200972744C>T	ENST00000422435.2	-	8	1498	c.1182G>A	c.(1180-1182)cgG>cgA	p.R394R	KIF21B_ENST00000360529.5_Silent_p.R394R|KIF21B_ENST00000461742.2_Silent_p.R394R|KIF21B_ENST00000332129.2_Silent_p.R394R	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	394					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R394R(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCATCTGCAGCCGAGCAATCT	0.562																																						ENST00000332129.2																			1	Substitution - coding silent(1)	p.R394R(1)	endometrium(1)	autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(1180-1182)cgG>cgA		kinesin family member 21B							142.0	111.0	122.0					1																	200972744		2203	4300	6503	SO:0001819	synonymous_variant	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200972744C>T	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.1182G>A	1.37:g.200972744C>T						KIF21B_ENST00000461742.2_Silent_p.R394R|KIF21B_ENST00000422435.2_Silent_p.R394R|KIF21B_ENST00000360529.5_Silent_p.R394R	p.R394R	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			8	1498	-			394					B2RP62|B7ZMI0|Q5T4J3	Silent	SNP	ENST00000422435.2	37	c.1182G>A	CCDS58056.1																																																																																				0.562	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		18	69	0	0	0	0.007413	0	18	69				
USP36	57602	broad.mit.edu	37	17	76803039	76803039	+	Splice_Site	SNP	A	A	C			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr17:76803039A>C	ENST00000542802.3	-	14	2529		c.e14+1		USP36_ENST00000312010.6_Splice_Site|USP36_ENST00000449938.2_Splice_Site|USP36_ENST00000588467.1_5'Flank			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36						protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CCACACACCCACCTTCTTGGC	0.567																																						ENST00000312010.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34						c.e14+1		ubiquitin specific peptidase 36							106.0	96.0	99.0					17																	76803039		2203	4300	6503	SO:0001630	splice_region_variant	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76803039A>C	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.2085+1T>G	17.37:g.76803039A>C						USP36_ENST00000449938.2_Splice_Site|USP36_ENST00000542802.2_Splice_Site		NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		14	2410	-								Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Splice_Site	SNP	ENST00000542802.3	37		CCDS32755.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.521070	0.85495	.	.	ENSG00000055483	ENST00000312010;ENST00000449938;ENST00000542802	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3163	0.60409	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP36	74314634	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.248000	0.89832	1.974000	0.57490	0.533000	0.62120	.		0.567	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090	Intron	8	90	0	0	0	0.006214	0	8	90				
KIF1B	23095	broad.mit.edu	37	1	10342413	10342413	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr1:10342413A>G	ENST00000377086.1	+	15	1458	c.1256A>G	c.(1255-1257)tAc>tGc	p.Y419C	KIF1B_ENST00000377083.1_Intron|KIF1B_ENST00000377081.1_Missense_Mutation_p.Y419C|KIF1B_ENST00000377093.4_Intron|KIF1B_ENST00000263934.6_Intron			O60333	KIF1B_HUMAN	kinesin family member 1B	419					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AAGCATAGATACTTGCTAGCC	0.453																																						ENST00000377086.1																			0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(1255-1257)tAc>tGc		kinesin family member 1B							76.0	72.0	73.0					1																	10342413		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10342413A>G	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.1256A>G	1.37:g.10342413A>G	ENSP00000366290:p.Tyr419Cys					KIF1B_ENST00000377093.4_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Missense_Mutation_p.Y419C|KIF1B_ENST00000377083.1_Intron	p.Y419C			O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	15	1458	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	419					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.1256A>G		.	.	.	.	.	.	.	.	.	.	A	13.79	2.343140	0.41498	.	.	ENSG00000054523	ENST00000355249;ENST00000377086;ENST00000377081	T;T	0.71817	-0.6;-0.6	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.80144	0.4569	.	.	.	0.51233	D	0.999919	P;D;D	0.69078	0.943;0.997;0.997	P;P;P	0.56865	0.525;0.808;0.808	T	0.82010	-0.0669	9	0.54805	T	0.06	.	15.7585	0.78058	1.0:0.0:0.0:0.0	.	405;419;419	Q4R9M9;Q4VXC4;O60333	.;.;KIF1B_HUMAN	C	419	ENSP00000366290:Y419C;ENSP00000366284:Y419C	ENSP00000347392:Y419C	Y	+	2	0	KIF1B	10265000	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.522000	0.81844	2.191000	0.70037	0.529000	0.55759	TAC		0.453	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			13	37	0	0	0	0.002450	0	13	37				
NT5C2	22978	broad.mit.edu	37	10	104866420	104866420	+	Silent	SNP	A	A	C	rs146517994		TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr10:104866420A>C	ENST00000404739.3	-	3	242	c.219T>G	c.(217-219)acT>acG	p.T73T	NT5C2_ENST00000343289.5_Silent_p.T73T|NT5C2_ENST00000369857.4_Intron|NT5C2_ENST00000423468.2_Silent_p.T44T			P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	73					cell death (GO:0008219)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|nucleobase-containing small molecule metabolic process (GO:0055086)|phosphorylation (GO:0016310)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleoside phosphotransferase activity (GO:0050146)|nucleotide binding (GO:0000166)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	ATCTCTCCACAGTAAGCTCAA	0.388																																						ENST00000343289.5																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16						c.(217-219)acT>acG		5'-nucleotidase, cytosolic II	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)						149.0	150.0	150.0					10																	104866420		2203	4300	6503	SO:0001819	synonymous_variant	22978				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding	g.chr10:104866420A>C	D38524	CCDS7544.1	10q24.32	2014-03-03	2002-04-18	2002-04-19	ENSG00000076685	ENSG00000076685			8022	protein-coding gene	gene with protein product	"""purine 5' nucleotidase"""	600417	"""5'-nucleotidase (purine), cytosolic type B"""	NT5B		7999131, 24482476	Standard	NM_012229		Approved	PNT5, GMP, cN-II, SPG65	uc001kwq.3	P49902	OTTHUMG00000018981	ENST00000404739.3:c.219T>G	10.37:g.104866420A>C						NT5C2_ENST00000404739.3_Silent_p.T73T|NT5C2_ENST00000423468.2_Silent_p.T44T|NT5C2_ENST00000369857.4_Intron	p.T73T	NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	P49902	5NTC_HUMAN		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	4	306	-		all_hematologic(284;0.176)|Colorectal(252;0.178)	73					B7Z382|D3DR91|Q5JUV5	Silent	SNP	ENST00000404739.3	37	c.219T>G	CCDS7544.1																																																																																				0.388	NT5C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050121.1	NM_012229		5	164	0	0	0	0.001168	0	5	164				
ESYT2	57488	broad.mit.edu	37	7	158534551	158534551	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr7:158534551G>C	ENST00000251527.5	-	17	1977	c.1912C>G	c.(1912-1914)Cac>Gac	p.H638D	ESYT2_ENST00000435514.2_Missense_Mutation_p.H73D	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	666			S -> G (in dbSNP:rs2305473). {ECO:0000269|PubMed:14702039}.		endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						GAGTGTTGGTGGTCTGGAGGC	0.478																																						ENST00000251527.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						c.(1912-1914)Cac>Gac		extended synaptotagmin-like protein 2							73.0	81.0	78.0					7																	158534551		2198	4295	6493	SO:0001583	missense	57488					integral to membrane|plasma membrane		g.chr7:158534551G>C	AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"""Synaptotagmins"""	22211	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member B"""	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.1912C>G	7.37:g.158534551G>C	ENSP00000251527:p.His638Asp					ESYT2_ENST00000435514.2_Missense_Mutation_p.H73D	p.H638D	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN			17	1977	-			666		S -> G (in dbSNP:rs2305473).			A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Missense_Mutation	SNP	ENST00000251527.5	37	c.1912C>G	CCDS34791.1	.	.	.	.	.	.	.	.	.	.	G	1.164	-0.642951	0.03531	.	.	ENSG00000117868	ENST00000251527;ENST00000421679;ENST00000275418;ENST00000435514;ENST00000377650;ENST00000429474	T;T;T	0.22743	1.94;1.94;1.94	5.75	1.79	0.24919	C2 calcium/lipid-binding domain, CaLB (1);	0.562630	0.20891	N	0.083833	T	0.15392	0.0371	L	0.55481	1.735	0.35696	D	0.815191	B;B	0.22851	0.076;0.025	B;B	0.23574	0.047;0.045	T	0.14839	-1.0458	10	0.12103	T	0.63	-12.6164	4.7828	0.13210	0.3438:0.148:0.5082:0.0	.	638;666	A0FGR8-2;A0FGR8	.;ESYT2_HUMAN	D	638;687;629;73;73;462	ENSP00000251527:H638D;ENSP00000275418:H629D;ENSP00000411488:H73D	ENSP00000251527:H638D	H	-	1	0	ESYT2	158227312	1.000000	0.71417	0.990000	0.47175	0.123000	0.20343	1.791000	0.38744	0.306000	0.22856	-0.142000	0.14014	CAC		0.478	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322647.1	NM_020728		26	98	0	0	0	0.007291	0	26	98				
LUC7L	55692	broad.mit.edu	37	16	242931	242931	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr16:242931G>C	ENST00000293872.8	-	7	881	c.771C>G	c.(769-771)agC>agG	p.S257R	LUC7L_ENST00000397783.1_Missense_Mutation_p.S257R|LUC7L_ENST00000337351.4_Missense_Mutation_p.S257R|LUC7L_ENST00000397780.1_Missense_Mutation_p.S204R	NM_201412.1	NP_958815.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	257	Arg/Ser-rich.				mRNA splice site selection (GO:0006376)|negative regulation of striated muscle tissue development (GO:0045843)	U1 snRNP (GO:0005685)	identical protein binding (GO:0042802)|mRNA binding (GO:0003729)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				CTCACCTCCTGCTCAGACGCT	0.552																																						ENST00000337351.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11						c.(769-771)agC>agG		LUC7-like (S. cerevisiae)							224.0	196.0	205.0					16																	242931		2203	4300	6503	SO:0001583	missense	55692						metal ion binding	g.chr16:242931G>C	AY005111	CCDS10401.1, CCDS32348.1	16p13.3	2010-01-25	2001-11-28		ENSG00000007392	ENSG00000007392			6723	protein-coding gene	gene with protein product		607782	"""LUC7 (S. cerevisiae)-like"""				Standard	NM_201412		Approved	LUC7B1, hLuc7B1, Luc7	uc002cgc.1	Q9NQ29	OTTHUMG00000060730	ENST00000293872.8:c.771C>G	16.37:g.242931G>C	ENSP00000293872:p.Ser257Arg					LUC7L_ENST00000397780.1_Missense_Mutation_p.S204R|LUC7L_ENST00000397783.1_Missense_Mutation_p.S257R|LUC7L_ENST00000293872.8_Missense_Mutation_p.S257R	p.S257R	NM_018032.3	NP_060502.1	Q9NQ29	LUC7L_HUMAN			7	894	-		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)	257			Arg/Ser-rich.		B8ZZ13|Q96S32|Q9NPH4	Missense_Mutation	SNP	ENST00000293872.8	37	c.771C>G	CCDS32348.1	.	.	.	.	.	.	.	.	.	.	G	4.090	0.014667	0.07959	.	.	ENSG00000007392	ENST00000337351;ENST00000293872;ENST00000397783;ENST00000429378;ENST00000397780;ENST00000430864	T;T;T;T	0.45668	0.89;0.89;0.97;3.62	5.13	0.907	0.19321	.	0.308092	0.41001	D	0.000969	T	0.15782	0.0380	N	0.03608	-0.345	0.24468	N	0.994406	B	0.02656	0.0	B	0.01281	0.0	T	0.29027	-1.0025	10	0.08599	T	0.76	.	9.7812	0.40649	0.3051:0.0:0.6949:0.0	.	257	Q9NQ29	LUC7L_HUMAN	R	257;257;257;56;204;171	ENSP00000337507:S257R;ENSP00000380885:S257R;ENSP00000413033:S56R;ENSP00000380882:S204R	ENSP00000293872:S257R	S	-	3	2	LUC7L	182932	0.998000	0.40836	1.000000	0.80357	0.962000	0.63368	0.204000	0.17335	0.277000	0.22141	0.462000	0.41574	AGC		0.552	LUC7L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134239.1			16	229	0	0	0	0.004990	0	16	229				
LMTK2	22853	broad.mit.edu	37	7	97823753	97823753	+	Missense_Mutation	SNP	G	G	T	rs373561525		TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr7:97823753G>T	ENST00000297293.5	+	11	4269	c.3976G>T	c.(3976-3978)Gac>Tac	p.D1326Y		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1326					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CAGCAACGAGGACGGAAGGCA	0.622																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(3976-3978)Gac>Tac		lemur tyrosine kinase 2							105.0	100.0	102.0					7																	97823753		2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97823753G>T	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.3976G>T	7.37:g.97823753G>T	ENSP00000297293:p.Asp1326Tyr						p.D1326Y	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			11	4269	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		1326					A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.3976G>T	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798275	0.70567	.	.	ENSG00000164715	ENST00000297293	T	0.80824	-1.42	6.08	5.19	0.71726	.	0.222398	0.53938	D	0.000052	D	0.87038	0.6078	M	0.72118	2.19	0.44254	D	0.997105	D	0.76494	0.999	P	0.60173	0.87	D	0.87772	0.2606	10	0.72032	D	0.01	.	14.7973	0.69886	0.0696:0.0:0.9304:0.0	.	1326	Q8IWU2	LMTK2_HUMAN	Y	1326	ENSP00000297293:D1326Y	ENSP00000297293:D1326Y	D	+	1	0	LMTK2	97661689	1.000000	0.71417	0.923000	0.36655	0.617000	0.37484	4.128000	0.57951	2.894000	0.99253	0.655000	0.94253	GAC		0.622	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		29	89	1	0	2.24059e-21	0.006320	5.62754e-21	29	89				
HOXD4	3233	broad.mit.edu	37	2	177017450	177017450	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr2:177017450G>A	ENST00000306324.3	+	2	960	c.548G>A	c.(547-549)cGt>cAt	p.R183H	HOXD3_ENST00000468418.3_5'UTR|MIR10B_ENST00000385011.1_RNA	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	183					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		ACAAGGCGCCGTCGGATTGAA	0.527																																						ENST00000306324.3																			0				kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(547-549)cGt>cAt		homeobox D4							73.0	76.0	75.0					2																	177017450		2203	4300	6503	SO:0001583	missense	3233					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177017450G>A		CCDS2269.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170166	ENSG00000170166		"""Homeoboxes / ANTP class : HOXL subclass"""	5138	protein-coding gene	gene with protein product		142981	"""homeo box D4"""	HOX4B, HOX4		1973146, 1358459	Standard	NM_014621		Approved		uc002uks.3	P09016	OTTHUMG00000132515	ENST00000306324.3:c.548G>A	2.37:g.177017450G>A	ENSP00000302548:p.Arg183His					HOXD3_ENST00000468418.3_5'UTR	p.R183H	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)	2	960	+			183					B2R9R3|Q96AU0	Missense_Mutation	SNP	ENST00000306324.3	37	c.548G>A	CCDS2269.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043444	0.75732	.	.	ENSG00000170166	ENST00000306324	D	0.96168	-3.93	5.38	5.38	0.77491	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98482	0.9494	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99525	1.0959	10	0.87932	D	0	.	19.1342	0.93420	0.0:0.0:1.0:0.0	.	183	P09016	HXD4_HUMAN	H	183	ENSP00000302548:R183H	ENSP00000302548:R183H	R	+	2	0	HOXD4	176725696	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.859000	0.99545	2.516000	0.84829	0.643000	0.83706	CGT		0.527	HOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255697.2			6	71	0	0	0	0.001168	0	6	71				
PHACTR1	221692	broad.mit.edu	37	6	13228134	13228134	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr6:13228134G>A	ENST00000379350.1	+	8	1202	c.1073G>A	c.(1072-1074)gGc>gAc	p.G358D	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Missense_Mutation_p.G358D|PHACTR1_ENST00000457702.2_Missense_Mutation_p.G213D			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	358					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GGACCTATGGGCCTTCCAGAA	0.483																																						ENST00000379350.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(1072-1074)gGc>gAc		phosphatase and actin regulator 1							165.0	166.0	166.0					6																	13228134		1940	4141	6081	SO:0001583	missense	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13228134G>A	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.1073G>A	6.37:g.13228134G>A	ENSP00000368655:p.Gly358Asp					PHACTR1_ENST00000332995.7_Missense_Mutation_p.G358D|PHACTR1_ENST00000457702.2_Missense_Mutation_p.G213D|PHACTR1_ENST00000379345.2_Intron	p.G358D			Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		8	1202	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	358					A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379350.1	37	c.1073G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.225531|4.225531	0.79576|0.79576	.|.	.|.	ENSG00000112137|ENSG00000112137	ENST00000415087|ENST00000379350;ENST00000332995;ENST00000432934;ENST00000457702	.|T;T;T	.|0.33654	.|1.4;1.44;1.48	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.218683	.|0.48767	.|D	.|0.000173	T|T	0.38214|0.38214	0.1032|0.1032	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;0.999	.|D;D;D	.|0.97110	.|1.0;0.922;0.964	T|T	0.41787|0.41787	-0.9489|-0.9489	5|10	.|0.62326	.|D	.|0.03	-20.4581|-20.4581	19.5705|19.5705	0.95413|0.95413	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|427;358;358	.|E7ESR5;Q9C0D0;Q9C0D0-2	.|.;PHAR1_HUMAN;.	T|D	193|358;358;427;213	.|ENSP00000368655:G358D;ENSP00000329880:G358D;ENSP00000397669:G213D	.|ENSP00000329880:G358D	A|G	+|+	1|2	0|0	PHACTR1|PHACTR1	13336113|13336113	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.666000|4.666000	0.61554|0.61554	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCC|GGC		0.483	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		18	160	0	0	0	0.007413	0	18	160				
SP8	221833	broad.mit.edu	37	7	20824912	20824912	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr7:20824912T>C	ENST00000361443.4	-	3	707	c.470A>G	c.(469-471)cAc>cGc	p.H157R	SP8_ENST00000418710.2_Missense_Mutation_p.H175R	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	157					dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						CACCGGCTGGTGGGAGCCGTC	0.706																																						ENST00000361443.4																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(469-471)cAc>cGc		Sp8 transcription factor							4.0	5.0	5.0					7																	20824912		1553	3089	4642	SO:0001583	missense	221833				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:20824912T>C		CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.470A>G	7.37:g.20824912T>C	ENSP00000354482:p.His157Arg					SP8_ENST00000418710.2_Missense_Mutation_p.H175R	p.H157R	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN			3	707	-			157					Q7Z615|Q7Z616|Q96MJ1	Missense_Mutation	SNP	ENST00000361443.4	37	c.470A>G	CCDS5372.1	.	.	.	.	.	.	.	.	.	.	T	15.61	2.884050	0.51908	.	.	ENSG00000164651	ENST00000297210;ENST00000418710;ENST00000361443	T;T	0.11277	2.79;2.79	3.26	3.26	0.37387	.	0.130609	0.50627	U	0.000104	T	0.11452	0.0279	L	0.53249	1.67	0.54753	D	0.999982	P;P	0.41524	0.753;0.753	B;B	0.40009	0.316;0.316	T	0.15521	-1.0434	10	0.22109	T	0.4	.	11.4081	0.49911	0.0:0.0:0.0:1.0	.	157;157	Q7Z615;Q8IXZ3	.;SP8_HUMAN	R	133;175;157	ENSP00000408792:H175R;ENSP00000354482:H157R	ENSP00000297210:H133R	H	-	2	0	SP8	20791437	1.000000	0.71417	0.996000	0.52242	0.965000	0.64279	1.592000	0.36676	1.355000	0.45865	0.260000	0.18958	CAC		0.706	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326904.2			4	7	0	0	0	0.009096	0	4	7				
COL6A1	1291	broad.mit.edu	37	21	47423618	47423618	+	Silent	SNP	C	C	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr21:47423618C>T	ENST00000361866.3	+	35	2892	c.2778C>T	c.(2776-2778)ttC>ttT	p.F926F	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	926	C-terminal globular domain.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		TGACCCGCTTCTACCGCGAGG	0.642																																						ENST00000361866.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(2776-2778)ttC>ttT		collagen, type VI, alpha 1	Palifermin(DB00039)						33.0	27.0	30.0					21																	47423618		2202	4299	6501	SO:0001819	synonymous_variant	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47423618C>T	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.2778C>T	21.37:g.47423618C>T						COL6A1_ENST00000498614.1_3'UTR	p.F926F	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	35	2892	+	all_hematologic(128;0.24)		926			C-terminal globular domain.|VWFA 3.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Silent	SNP	ENST00000361866.3	37	c.2778C>T	CCDS13727.1																																																																																				0.642	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		7	27	0	0	0	0.001984	0	7	27				
ZNF594	84622	broad.mit.edu	37	17	5085657	5085657	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr17:5085657G>A	ENST00000399604.4	-	1	2035	c.1895C>T	c.(1894-1896)tCt>tTt	p.S632F	ZNF594_ENST00000575779.1_Missense_Mutation_p.S632F			Q96JF6	ZN594_HUMAN	zinc finger protein 594	632					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						ACCCCTAAAAGATTTCCCACA	0.398																																						ENST00000399604.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(1894-1896)tCt>tTt		zinc finger protein 594							129.0	137.0	134.0					17																	5085657		2109	4270	6379	SO:0001583	missense	84622				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:5085657G>A	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.1895C>T	17.37:g.5085657G>A	ENSP00000382513:p.Ser632Phe					ZNF594_ENST00000575779.1_Missense_Mutation_p.S632F	p.S632F			Q96JF6	ZN594_HUMAN			1	2035	-			632					Q6RFS0	Missense_Mutation	SNP	ENST00000399604.4	37	c.1895C>T	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	g	10.14	1.268606	0.23136	.	.	ENSG00000180626	ENST00000399604;ENST00000389222	T	0.36520	1.25	1.41	1.41	0.22369	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48572	0.1507	M	0.64630	1.985	0.09310	N	1	D	0.71674	0.998	D	0.63597	0.916	T	0.24225	-1.0166	9	0.62326	D	0.03	.	5.5765	0.17227	0.0:0.3527:0.6473:0.0	.	632	Q96JF6	ZN594_HUMAN	F	632;227	ENSP00000382513:S632F	ENSP00000373874:S227F	S	-	2	0	ZNF594	5026381	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.178000	0.09782	0.776000	0.33473	0.393000	0.25936	TCT		0.398	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		11	174	0	0	0	0.010729	0	11	174				
SPOP	8405	broad.mit.edu	37	17	47696424	47696424	+	Missense_Mutation	SNP	G	G	T	rs193921065		TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr17:47696424G>T	ENST00000393328.2	-	6	764	c.399C>A	c.(397-399)ttC>ttA	p.F133L	SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000393331.3_Missense_Mutation_p.F133L	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F133L(7)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TGAATTTCTTGAATCCCCAGT	0.448										Prostate(2;0.17)																												ENST00000393331.3																			7	Substitution - Missense(7)	p.F133L(7)	prostate(7)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)ttC>ttA		speckle-type POZ protein							118.0	120.0	119.0					17																	47696424		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696424G>T	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.399C>A	17.37:g.47696424G>T	ENSP00000377001:p.Phe133Leu	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000393328.2_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L	p.F133L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	869	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.399C>A	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981900	0.74474	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.41	4.33	0.51752	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	M	0.80847	2.515	0.80722	D	1	P	0.52692	0.955	P	0.55087	0.768	T	0.62732	-0.6792	10	0.44086	T	0.13	-9.6576	13.4952	0.61421	0.0813:0.0:0.9187:0.0	.	133	O43791	SPOP_HUMAN	L	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133L;ENSP00000377004:F133L;ENSP00000240327:F133L;ENSP00000425905:F133L;ENSP00000420908:F133L;ENSP00000426986:F133L;ENSP00000420960:F133L;ENSP00000426262:F133L;ENSP00000424119:F133L	ENSP00000240327:F133L	F	-	3	2	SPOP	45051423	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.591000	0.36665	1.345000	0.45676	0.563000	0.77884	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		27	117	1	0	5.61819e-17	0.005443	1.37901e-16	27	117				
CTNNA3	29119	broad.mit.edu	37	10	67680276	67680276	+	Nonsense_Mutation	SNP	G	G	A	rs202196166		TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr10:67680276G>A	ENST00000433211.2	-	18	2674	c.2500C>T	c.(2500-2502)Cga>Tga	p.R834*	CTNNA3_ENST00000373744.4_Nonsense_Mutation_p.R834*|CTNNA3_ENST00000373735.1_5'UTR	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.R834*(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CTCTGGATTCGGATGATCTTG	0.463																																						ENST00000433211.1																			2	Substitution - Nonsense(2)	p.R834*(2)	endometrium(2)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						c.(2500-2502)Cga>Tga		catenin (cadherin-associated protein), alpha 3							94.0	90.0	91.0					10																	67680276		2203	4300	6503	SO:0001587	stop_gained	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:67680276G>A	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.2500C>T	10.37:g.67680276G>A	ENSP00000389714:p.Arg834*					CTNNA3_ENST00000373735.1_Nonsense_Mutation_p.R173*|CTNNA3_ENST00000373744.4_Nonsense_Mutation_p.R834*	p.R834*	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN			18	2674	-			834						Nonsense_Mutation	SNP	ENST00000433211.2	37	c.2500C>T	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	G	40	8.073432	0.98640	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000373735	.	.	.	5.88	3.89	0.44902	.	0.325448	0.22238	N	0.062738	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.2647	8.1478	0.31121	0.0:0.1272:0.5851:0.2877	.	.	.	.	X	834;834;173	.	ENSP00000362840:R173X	R	-	1	2	CTNNA3	67350282	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.916000	0.75776	1.511000	0.48818	-0.148000	0.13756	CGA		0.463	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		25	108	0	0	0	0.005443	0	25	108				
PHTF1	10745	broad.mit.edu	37	1	114254647	114254647	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr1:114254647C>T	ENST00000369604.1	-	9	1355	c.872G>A	c.(871-873)cGt>cAt	p.R291H	PHTF1_ENST00000357783.2_Missense_Mutation_p.R291H|PHTF1_ENST00000369598.1_Missense_Mutation_p.R246H|PHTF1_ENST00000369596.2_Missense_Mutation_p.R238H|PHTF1_ENST00000369600.1_Missense_Mutation_p.R238H|PHTF1_ENST00000393357.2_Missense_Mutation_p.R291H|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000447664.2_3'UTR			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	291					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACACTCCTACGCAATAATAT	0.413																																						ENST00000369604.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(871-873)cGt>cAt		putative homeodomain transcription factor 1							130.0	127.0	128.0					1																	114254647		2203	4300	6503	SO:0001583	missense	10745					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:114254647C>T	AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.872G>A	1.37:g.114254647C>T	ENSP00000358617:p.Arg291His					PHTF1_ENST00000369596.2_Missense_Mutation_p.R238H|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000357783.2_Missense_Mutation_p.R291H|PHTF1_ENST00000393357.2_Missense_Mutation_p.R291H|PHTF1_ENST00000369598.1_Missense_Mutation_p.R246H|PHTF1_ENST00000447664.2_3'UTR|PHTF1_ENST00000369600.1_Missense_Mutation_p.R238H	p.R291H			Q9UMS5	PHTF1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	1355	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	291					Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Missense_Mutation	SNP	ENST00000369604.1	37	c.872G>A	CCDS861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.30|17.30	3.353537|3.353537	0.61293|0.61293	.|.	.|.	ENSG00000116793|ENSG00000116793	ENST00000369597;ENST00000393357;ENST00000369596;ENST00000369598;ENST00000369600;ENST00000369604;ENST00000357783|ENST00000412670	.|.	.|.	.|.	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	0.277859|.	0.38548|.	N|.	0.001643|.	T|T	0.40272|0.40272	0.1110|0.1110	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	B;D;B|.	0.63046|.	0.074;0.992;0.231|.	B;P;B|.	0.47786|.	0.008;0.557;0.018|.	T|T	0.30179|0.30179	-0.9987|-0.9987	9|5	0.72032|.	D|.	0.01|.	-14.2617|-14.2617	15.0834|15.0834	0.72133|0.72133	0.0:0.8587:0.1413:0.0|0.0:0.8587:0.1413:0.0	.|.	291;46;291|.	Q9UMS5;Q5TCR1;Q9UMS5-2|.	PHTF1_HUMAN;.;.|.	H|I	246;291;238;246;238;291;291|47	.|.	ENSP00000350428:R291H|.	R|V	-|-	2|1	0|0	PHTF1|PHTF1	114056170|114056170	0.956000|0.956000	0.32656|0.32656	0.893000|0.893000	0.35052|0.35052	0.457000|0.457000	0.32468|0.32468	2.059000|2.059000	0.41384|0.41384	2.627000|2.627000	0.88993|0.88993	0.460000|0.460000	0.39030|0.39030	CGT|GTA		0.413	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032666.1	NM_006608		22	63	0	0	0	0.016522	0	22	63				
MME	4311	broad.mit.edu	37	3	154861330	154861330	+	Silent	SNP	A	A	G			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr3:154861330A>G	ENST00000460393.1	+	13	1407	c.1287A>G	c.(1285-1287)gaA>gaG	p.E429E	MME_ENST00000492661.1_Silent_p.E429E|MME_ENST00000493237.1_Silent_p.E429E|MME_ENST00000360490.2_Silent_p.E429E|MME_ENST00000462745.1_Silent_p.E429E	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	429					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	TTTATGTGGAAGCAGCATTTG	0.413																																						ENST00000460393.1																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(1285-1287)gaA>gaG		membrane metallo-endopeptidase	Candoxatril(DB00616)						211.0	207.0	209.0					3																	154861330		2203	4300	6503	SO:0001819	synonymous_variant	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154861330A>G		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1287A>G	3.37:g.154861330A>G						MME_ENST00000492661.1_Silent_p.E429E|MME_ENST00000493237.1_Silent_p.E429E|MME_ENST00000360490.2_Silent_p.E429E|MME_ENST00000462745.1_Silent_p.E429E	p.E429E	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		13	1407	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	429					A8K6U6|D3DNJ9|Q3MIX4	Silent	SNP	ENST00000460393.1	37	c.1287A>G	CCDS3172.1																																																																																				0.413	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		20	91	0	0	0	0.010504	0	20	91				
OBSCN	84033	broad.mit.edu	37	1	228433202	228433202	+	Silent	SNP	G	G	C	rs374351944		TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr1:228433202G>C	ENST00000422127.1	+	12	3614	c.3570G>C	c.(3568-3570)gtG>gtC	p.V1190V	OBSCN_ENST00000284548.11_Silent_p.V1190V|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Silent_p.V1282V	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1190	Ig-like 12.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTGTGAGGTGGCCCAGCCCC	0.607																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(3844-3846)gtG>gtC		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							82.0	82.0	82.0					1																	228433202		2096	4202	6298	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228433202G>C	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.3570G>C	1.37:g.228433202G>C						OBSCN_ENST00000422127.1_Silent_p.V1190V|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.V1190V	p.V1282V	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			13	3920	+		Prostate(94;0.0405)	261			Ig-like 13.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.3846G>C	CCDS58065.1																																																																																				0.607	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		11	71	0	0	0	0.001855	0	11	71				
CADM1	23705	broad.mit.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr11:115080343G>T	ENST00000452722.3	-	8	1049	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_ENST00000537140.1_Intron|CADM1_ENST00000537058.1_Silent_p.T343T|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000542447.2_Intron	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.T343T(5)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggtggtggtggttgttgtgg	0.433																																						ENST00000537058.1																			5	Substitution - coding silent(5)	p.T343T(5)	kidney(3)|lung(2)	cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(1027-1029)acC>acA		cell adhesion molecule 1							45.0	50.0	49.0					11																	115080343		2201	4296	6497	SO:0001819	synonymous_variant	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115080343G>T	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1029C>A	11.37:g.115080343G>T						CADM1_ENST00000536727.1_Intron|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000542447.2_Intron	p.T343T			Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	8	1049	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	343	PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).					Silent	SNP	ENST00000452722.3	37	c.1029C>A	CCDS8373.1																																																																																				0.433	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		6	56	1	0	0.00116845	0.001168	0.00274331	6	56				
ARFGEF1	10565	broad.mit.edu	37	8	68178397	68178397	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr8:68178397G>C	ENST00000262215.3	-	14	2356	c.1967C>G	c.(1966-1968)cCt>cGt	p.P656R	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.P110R	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	656					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)	p.P656H(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TATTGTCTCAGGGTGTTTGAT	0.373																																						ENST00000262215.3																			1	Substitution - Missense(1)	p.P656H(1)	endometrium(1)	breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(1966-1968)cCt>cGt		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							133.0	123.0	127.0					8																	68178397		2202	4300	6502	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68178397G>C	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.1967C>G	8.37:g.68178397G>C	ENSP00000262215:p.Pro656Arg					ARFGEF1_ENST00000520381.1_Missense_Mutation_p.P110R	p.P656R	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		14	2356	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	656					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.1967C>G	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.501326	0.44455	.	.	ENSG00000066777	ENST00000520381;ENST00000262215	T;T	0.20200	2.96;2.09	5.83	5.83	0.93111	Armadillo-type fold (1);	0.106577	0.64402	D	0.000003	T	0.16981	0.0408	N	0.20766	0.605	0.80722	D	1	B;B	0.25850	0.136;0.0	B;B	0.26094	0.066;0.002	T	0.08953	-1.0697	10	0.18710	T	0.47	.	20.1099	0.97909	0.0:0.0:1.0:0.0	.	656;110	Q9Y6D6;E5RIF2	BIG1_HUMAN;.	R	110;656	ENSP00000428429:P110R;ENSP00000262215:P656R	ENSP00000262215:P656R	P	-	2	0	ARFGEF1	68340951	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.771000	0.98977	2.753000	0.94483	0.585000	0.79938	CCT		0.373	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		9	42	0	0	0	0.006214	0	9	42				
LASP1	3927	broad.mit.edu	37	17	37074903	37074903	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr17:37074903G>T	ENST00000318008.6	+	7	989	c.658G>T	c.(658-660)Gag>Tag	p.E220*	RP1-56K13.3_ENST00000580121.1_RNA|LASP1_ENST00000433206.2_Nonsense_Mutation_p.E164*|LASP1_ENST00000435347.3_Nonsense_Mutation_p.E220*	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN	LIM and SH3 protein 1	220	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.			E -> A (in Ref. 4; AAH12460). {ECO:0000305}.	ion transport (GO:0006811)|positive regulation of signal transduction (GO:0009967)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	ion transmembrane transporter activity (GO:0015075)|SH3/SH2 adaptor activity (GO:0005070)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						CGACGAGGACGAGGTCTCCTT	0.662			T	MLL	AML																																	ENST00000318008.6				Dom	yes		17	17q11-q21.3	3927	T	LIM and SH3 protein 1			L	MLL		AML		0				breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						c.(658-660)Gag>Tag		LIM and SH3 protein 1							117.0	102.0	107.0					17																	37074903		2203	4300	6503	SO:0001587	stop_gained	3927					cortical actin cytoskeleton	ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding	g.chr17:37074903G>T		CCDS11331.1, CCDS62164.1	17q11-q21.3	2008-07-18			ENSG00000002834	ENSG00000002834			6513	protein-coding gene	gene with protein product		602920				7490069	Standard	NM_006148		Approved	MLN50, Lasp-1	uc010cvq.3	Q14847	OTTHUMG00000133182	ENST00000318008.6:c.658G>T	17.37:g.37074903G>T	ENSP00000325240:p.Glu220*					LASP1_ENST00000435347.3_Nonsense_Mutation_p.E220*|LASP1_ENST00000433206.2_Nonsense_Mutation_p.E164*	p.E220*	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN			7	989	+			220	E -> A (in Ref. 2; AAH12460).		SH3.		B4DGQ0|Q96ED2|Q96IG0	Nonsense_Mutation	SNP	ENST00000318008.6	37	c.658G>T	CCDS11331.1	.	.	.	.	.	.	.	.	.	.	G	38	7.066394	0.98040	.	.	ENSG00000002834	ENST00000318008;ENST00000433206;ENST00000435347	.	.	.	5.39	5.39	0.77823	.	0.847374	0.10729	N	0.640835	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.7153	0.88335	0.0:0.0:1.0:0.0	.	.	.	.	X	220;164;220	.	ENSP00000325240:E220X	E	+	1	0	LASP1	34328429	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.779000	0.99018	2.540000	0.85666	0.462000	0.41574	GAG		0.662	LASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256890.3	NM_006148		5	135	1	0	0.00116845	0.001168	0.00274331	5	135				
FAM135B	51059	broad.mit.edu	37	8	139180230	139180230	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr8:139180230G>A	ENST00000395297.1	-	12	1336	c.1166C>T	c.(1165-1167)cCc>cTc	p.P389L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	389										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGGCAGCGGGGGCATGCTAGT	0.602										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(1165-1167)cCc>cTc		family with sequence similarity 135, member B							112.0	120.0	117.0					8																	139180230		2108	4227	6335	SO:0001583	missense	51059							g.chr8:139180230G>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1166C>T	8.37:g.139180230G>A	ENSP00000378710:p.Pro389Leu	HNSCC(54;0.14)					p.P389L	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		12	1336	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		389					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.1166C>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	24.5	4.543226	0.86022	.	.	ENSG00000147724	ENST00000395297	D	0.93547	-3.24	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.96978	0.9013	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97157	0.9835	10	0.87932	D	0	-22.3234	18.6786	0.91539	0.0:0.0:1.0:0.0	.	389	Q49AJ0	F135B_HUMAN	L	389	ENSP00000378710:P389L	ENSP00000276737:P389L	P	-	2	0	FAM135B	139249412	1.000000	0.71417	1.000000	0.80357	0.478000	0.33099	8.684000	0.91242	2.824000	0.97209	0.655000	0.94253	CCC		0.602	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		27	111	0	0	0	0.005443	0	27	111				
C16orf89	146556	broad.mit.edu	37	16	5094359	5094359	+	3'UTR	SNP	C	C	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr16:5094359C>T	ENST00000315997.5	-	0	1635				C16orf89_ENST00000350219.4_3'UTR|ALG1_ENST00000588623.1_Intron|RP11-165E7.1_ENST00000588778.1_RNA|C16orf89_ENST00000422873.1_Missense_Mutation_p.S397N|C16orf89_ENST00000472572.3_Missense_Mutation_p.S359N|C16orf89_ENST00000474471.3_3'UTR	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89							cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						TCAGCGGCTGCTTGGTGGTGG	0.602																																						ENST00000422873.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						c.(1189-1191)aGc>aAc		chromosome 16 open reading frame 89							61.0	71.0	68.0					16																	5094359		2089	4209	6298	SO:0001624	3_prime_UTR_variant	146556					extracellular region		g.chr16:5094359C>T		CCDS42116.1, CCDS45404.1, CCDS42116.2, CCDS45404.2	16p13.3	2011-12-12			ENSG00000153446	ENSG00000153446			28687	protein-coding gene	gene with protein product						12975309, 20578903	Standard	NM_001098514		Approved	MGC45438	uc010bud.3	Q6UX73	OTTHUMG00000159314	ENST00000315997.5:c.*225G>A	16.37:g.5094359C>T						C16orf89_ENST00000474471.3_3'UTR|C16orf89_ENST00000472572.3_Missense_Mutation_p.S359N|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000350219.4_3'UTR|C16orf89_ENST00000315997.5_3'UTR	p.S397N	NM_001098514.2	NP_001091984.2	Q6UX73	CP089_HUMAN			8	1277	-			0					B4DUM5|Q8N2I3|Q8N4T1	Missense_Mutation	SNP	ENST00000315997.5	37	c.1190G>A	CCDS42116.2	.	.	.	.	.	.	.	.	.	.	C	8.512	0.866771	0.17250	.	.	ENSG00000153446	ENST00000472572;ENST00000422873	T;T	0.34472	1.46;1.36	4.0	-1.39	0.08997	.	.	.	.	.	T	0.12902	0.0313	N	0.04508	-0.205	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.33727	-0.9857	9	0.02654	T	1	.	8.0503	0.30575	0.0:0.6293:0.0:0.3707	.	397	G3V0F0	.	N	359;397	ENSP00000420566:S359N;ENSP00000390402:S397N	ENSP00000390402:S397N	S	-	2	0	C16orf89	5034360	0.000000	0.05858	0.000000	0.03702	0.129000	0.20672	-1.935000	0.01550	-0.484000	0.06763	0.448000	0.29417	AGC		0.602	C16orf89-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354524.1	NM_152459		9	111	0	0	0	0.004482	0	9	111				
RP11-156P1.3	0	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072		TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr17:45128671T>G	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							GCTCACAAAATAAGTTCCAGG	0.323																																						ENST00000575173.1																			0																																																			0							g.chr17:45128671T>G																													17.37:g.45128671T>G														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.323	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			3	88	0	0	0	0.004672	0	3	88				
CCSER1	401145	broad.mit.edu	37	4	91229733	91229733	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr4:91229733A>C	ENST00000509176.1	+	2	586	c.298A>C	c.(298-300)Atg>Ctg	p.M100L	CCSER1_ENST00000432775.2_Missense_Mutation_p.M100L|CCSER1_ENST00000333691.8_Missense_Mutation_p.M100L	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	100																	TCACAGCAATATGCAGAAACT	0.408																																						ENST00000509176.1																			0											c.(298-300)Atg>Ctg		coiled-coil serine-rich protein 1							107.0	99.0	102.0					4																	91229733		1877	4112	5989	SO:0001583	missense	401145							g.chr4:91229733A>C		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.298A>C	4.37:g.91229733A>C	ENSP00000425040:p.Met100Leu					CCSER1_ENST00000432775.2_Missense_Mutation_p.M100L|CCSER1_ENST00000333691.8_Missense_Mutation_p.M100L	p.M100L	NM_001145065.1	NP_001138537.1					2	586	+								Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	c.298A>C	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	A	5.629	0.300712	0.10678	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.39787	1.61;1.06;1.61	5.18	-0.519	0.11939	.	0.894192	0.10087	N	0.717668	T	0.21427	0.0516	N	0.25647	0.755	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.29212	-1.0019	10	0.06757	T	0.87	-2.0694	4.2399	0.10643	0.3561:0.0:0.1718:0.4721	.	100;100;100	Q9C0I3-2;Q9C0I3;E7EUW0	.;F190A_HUMAN;.	L	100	ENSP00000425040:M100L;ENSP00000389283:M100L;ENSP00000329482:M100L	ENSP00000329482:M100L	M	+	1	0	FAM190A	91448756	0.998000	0.40836	0.100000	0.21137	0.994000	0.84299	1.369000	0.34227	0.121000	0.18284	0.533000	0.62120	ATG		0.408	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		5	85	0	0	0	0.001168	0	5	85				
COL22A1	169044	broad.mit.edu	37	8	139890294	139890294	+	Silent	SNP	G	G	A	rs371320801		TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr8:139890294G>A	ENST00000303045.6	-	3	803	c.357C>T	c.(355-357)gaC>gaT	p.D119D	COL22A1_ENST00000435777.1_Silent_p.D119D	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	119	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGCGGAGCGCGTCTCCCGTGT	0.706										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(355-357)gaC>gaT		collagen, type XXII, alpha 1		G		0,4364		0,0,2182	20.0	22.0	21.0		357	-1.4	1.0	8		21	1,8505		0,1,4252	no	coding-synonymous	COL22A1	NM_152888.1		0,1,6434	AA,AG,GG		0.0118,0.0,0.0078		119/1627	139890294	1,12869	2182	4253	6435	SO:0001819	synonymous_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139890294G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.357C>T	8.37:g.139890294G>A		HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Silent_p.D119D	p.D119D	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		3	803	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		119			VWFA.		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	c.357C>T	CCDS6376.1																																																																																				0.706	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		4	17	0	0	0	0.009096	0	4	17				
MAGEL2	54551	broad.mit.edu	37	15	23890498	23890498	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr15:23890498G>A	ENST00000532292.1	-	1	677	c.583C>T	c.(583-585)Cct>Tct	p.P195S		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	78					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AGAGAGGCAGGCTGAAACTGG	0.582																																						ENST00000532292.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(583-585)Cct>Tct		MAGE-like 2							68.0	74.0	72.0					15																	23890498		2023	4192	6215	SO:0001583	missense	54551							g.chr15:23890498G>A	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.583C>T	15.37:g.23890498G>A	ENSP00000433433:p.Pro195Ser						p.P195S	NM_019066.4	NP_061939.3				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	677	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Missense_Mutation	SNP	ENST00000532292.1	37	c.583C>T																																																																																					0.582	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		8	89	0	0	0	0.004482	0	8	89				
OR9G4	283189	broad.mit.edu	37	11	56510819	56510819	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr11:56510819T>G	ENST00000302957.3	-	1	468	c.469A>C	c.(469-471)Act>Cct	p.T157P		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ACAAGCCCAGTACAGAGGGCG	0.463																																						ENST00000302957.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(469-471)Act>Cct		olfactory receptor, family 9, subfamily G, member 4							94.0	98.0	97.0					11																	56510819		2201	4296	6497	SO:0001583	missense	283189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56510819T>G	BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"""GPCR / Class A : Olfactory receptors"""	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.469A>C	11.37:g.56510819T>G	ENSP00000307515:p.Thr157Pro						p.T157P	NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN			1	468	-			157					Q6IF62|Q96RA9	Missense_Mutation	SNP	ENST00000302957.3	37	c.469A>C	CCDS31537.1	.	.	.	.	.	.	.	.	.	.	T	12.10	1.835132	0.32421	.	.	ENSG00000172457	ENST00000302957	T	0.37915	1.17	5.07	-0.207	0.13189	GPCR, rhodopsin-like superfamily (1);	1.013840	0.07926	N	0.976716	T	0.34890	0.0913	M	0.62209	1.925	0.09310	N	1	P	0.50819	0.939	P	0.46629	0.522	T	0.24297	-1.0164	10	0.40728	T	0.16	-3.7997	1.6291	0.02729	0.1325:0.2954:0.1368:0.4353	.	157	Q8NGQ1	OR9G4_HUMAN	P	157	ENSP00000307515:T157P	ENSP00000307515:T157P	T	-	1	0	OR9G4	56267395	0.000000	0.05858	0.002000	0.10522	0.639000	0.38242	-0.638000	0.05452	0.046000	0.15833	-0.304000	0.09214	ACT		0.463	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284		7	147	0	0	0	0.001984	0	7	147				
AGK	55750	broad.mit.edu	37	7	141351367	141351367	+	Silent	SNP	G	G	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr7:141351367G>A	ENST00000355413.4	+	15	1349	c.1089G>A	c.(1087-1089)acG>acA	p.T363T	AGK_ENST00000535825.1_3'UTR|RP5-894A10.2_ENST00000467537.1_RNA|AGK_ENST00000473247.1_Silent_p.T335T	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	363					ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					TGGAGGGCACGGAGTGTCTCC	0.552																																						ENST00000355413.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17						c.(1087-1089)acG>acA		acylglycerol kinase							108.0	85.0	93.0					7																	141351367		2203	4300	6503	SO:0001819	synonymous_variant	55750				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity	g.chr7:141351367G>A	BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"""multiple substrate lipid kinase"""	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.1089G>A	7.37:g.141351367G>A						AGK_ENST00000535825.1_3'UTR|AGK_ENST00000473247.1_Silent_p.T335T	p.T363T	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN			15	1349	+	Melanoma(164;0.0171)		363					Q75KN1|Q96GC3|Q9NP48	Silent	SNP	ENST00000355413.4	37	c.1089G>A	CCDS5865.1																																																																																				0.552	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348969.1	NM_018238		5	78	0	0	0	0.001168	0	5	78				
MYH10	4628	broad.mit.edu	37	17	8409745	8409745	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr17:8409745C>T	ENST00000269243.4	-	25	3322	c.3184G>A	c.(3184-3186)Ggg>Agg	p.G1062R	MYH10_ENST00000360416.3_Missense_Mutation_p.G1093R|MYH10_ENST00000396239.1_Missense_Mutation_p.G1083R|MYH10_ENST00000379980.4_Missense_Mutation_p.G1078R	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1062					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GTCGTCTCCCCGTCGAGTTTT	0.527																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(3277-3279)Ggg>Agg		myosin, heavy chain 10, non-muscle							142.0	122.0	129.0					17																	8409745		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8409745C>T	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.3184G>A	17.37:g.8409745C>T	ENSP00000269243:p.Gly1062Arg					MYH10_ENST00000396239.1_Missense_Mutation_p.G1083R|MYH10_ENST00000269243.4_Missense_Mutation_p.G1062R|MYH10_ENST00000379980.4_Missense_Mutation_p.G1078R	p.G1093R	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			27	3415	-			1062					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.3277G>A	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668570	0.88348	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.93811	-3.29;-3.29;-3.29;-3.29	4.87	4.87	0.63330	.	0.106902	0.64402	D	0.000006	D	0.96485	0.8853	M	0.85777	2.775	0.54753	D	0.999988	P;P;P	0.49696	0.927;0.791;0.927	P;P;P	0.58210	0.689;0.835;0.689	D	0.97021	0.9743	10	0.87932	D	0	.	18.5613	0.91101	0.0:1.0:0.0:0.0	.	1071;1093;1062	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	R	1062;1093;1083;1078	ENSP00000269243:G1062R;ENSP00000353590:G1093R;ENSP00000379539:G1083R;ENSP00000369315:G1078R	ENSP00000269243:G1062R	G	-	1	0	MYH10	8350470	0.997000	0.39634	0.227000	0.23927	0.563000	0.35712	5.867000	0.69597	2.672000	0.90937	0.563000	0.77884	GGG		0.527	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			24	69	0	0	0	0.004656	0	24	69				
ACR	49	broad.mit.edu	37	22	51178322	51178322	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr22:51178322G>A	ENST00000216139.5	+	3	522	c.482G>A	c.(481-483)gGc>gAc	p.G161D	AC002056.5_ENST00000532913.1_RNA|ACR_ENST00000529621.1_Missense_Mutation_p.G161D|AC000036.4_ENST00000449652.1_RNA	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	161	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acrosome matrix dispersal (GO:0002077)|acrosome reaction (GO:0007340)|activation of adenylate cyclase activity (GO:0007190)|binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|response to steroid hormone (GO:0048545)|single fertilization (GO:0007338)	acrosomal matrix (GO:0043159)|extracellular region (GO:0005576)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|protein complex (GO:0043234)	amidase activity (GO:0004040)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|drug binding (GO:0008144)|fucose binding (GO:0042806)|mannose binding (GO:0005537)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		ATTGGGCCGGGCTGCCTGCCC	0.567																																						ENST00000216139.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7						c.(481-483)gGc>gAc		acrosin							63.0	70.0	68.0					22																	51178322		2203	4300	6503	SO:0001583	missense	49				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding	g.chr22:51178322G>A	CR456366	CCDS14101.1	22q13.33	2012-10-23	2012-10-23		ENSG00000100312	ENSG00000100312	3.4.21.10		126	protein-coding gene	gene with protein product	"""preproacrosin"", ""acrosin light and heavy chain prepropeptide"""	102480				2298447, 12398221	Standard	NM_001097		Approved		uc003bnh.4	P10323	OTTHUMG00000150155	ENST00000216139.5:c.482G>A	22.37:g.51178322G>A	ENSP00000216139:p.Gly161Asp					ACR_ENST00000529621.1_Missense_Mutation_p.G161D	p.G161D	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)	3	522	+		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	161			Peptidase S1.		Q6ICK2	Missense_Mutation	SNP	ENST00000216139.5	37	c.482G>A	CCDS14101.1	.	.	.	.	.	.	.	.	.	.	g	17.39	3.378366	0.61735	.	.	ENSG00000100312	ENST00000216139;ENST00000529621	T;D	0.92858	0.28;-3.12	4.52	0.904	0.19302	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.408062	0.18094	N	0.151898	D	0.91626	0.7354	N	0.19112	0.55	0.23720	N	0.997023	D;D	0.89917	0.997;1.0	D;D	0.91635	0.995;0.999	D	0.85534	0.1211	10	0.54805	T	0.06	-9.7265	13.7399	0.62840	0.0:0.6254:0.3746:0.0	.	161;161	E9PLV5;P10323	.;ACRO_HUMAN	D	161	ENSP00000216139:G161D;ENSP00000435120:G161D	ENSP00000216139:G161D	G	+	2	0	ACR	49525188	0.055000	0.20627	0.722000	0.30670	0.934000	0.57294	0.017000	0.13399	0.607000	0.29982	0.455000	0.32223	GGC		0.567	ACR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000316605.2	NM_001097		18	104	0	0	0	0.012319	0	18	104				
CNTLN	54875	broad.mit.edu	37	9	17273768	17273768	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr9:17273768T>C	ENST00000380647.3	+	6	971	c.887T>C	c.(886-888)gTt>gCt	p.V296A	CNTLN_ENST00000262360.5_Missense_Mutation_p.V296A|CNTLN_ENST00000425824.1_Missense_Mutation_p.V296A|CNTLN_ENST00000380641.4_Missense_Mutation_p.V296A			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	296					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AGGAAAGAAGTTGAAGTATCA	0.308																																						ENST00000380647.3																			0				breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(886-888)gTt>gCt		centlein, centrosomal protein							97.0	98.0	98.0					9																	17273768		1821	4073	5894	SO:0001583	missense	54875					centriole|membrane	two-component sensor activity	g.chr9:17273768T>C	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.887T>C	9.37:g.17273768T>C	ENSP00000370021:p.Val296Ala					CNTLN_ENST00000380641.4_Missense_Mutation_p.V296A|CNTLN_ENST00000262360.5_Missense_Mutation_p.V296A|CNTLN_ENST00000425824.1_Missense_Mutation_p.V296A	p.V296A			Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	6	971	+			296					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	c.887T>C	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	T	13.21	2.169822	0.38315	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360;ENST00000380641	T;T;T;T	0.10763	2.84;2.84;3.35;2.84	4.48	4.48	0.54585	.	.	.	.	.	T	0.06781	0.0173	N	0.08118	0	0.23611	N	0.9973	B;B;B	0.18741	0.003;0.003;0.03	B;B;B	0.18561	0.006;0.006;0.022	T	0.31194	-0.9952	9	0.39692	T	0.17	.	12.3066	0.54906	0.0:0.0:0.0:1.0	.	296;296;296	C9J1F9;Q9NXG0-2;Q9NXG0-3	.;.;.	A	296	ENSP00000370021:V296A;ENSP00000392798:V296A;ENSP00000262360:V296A;ENSP00000370015:V296A	ENSP00000262360:V296A	V	+	2	0	CNTLN	17263768	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	4.348000	0.59379	1.788000	0.52465	0.254000	0.18369	GTT		0.308	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		14	83	0	0	0	0.002450	0	14	83				
TMPRSS9	360200	broad.mit.edu	37	19	2421893	2421893	+	Silent	SNP	C	C	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr19:2421893C>T	ENST00000332578.3	+	13	2094	c.2094C>T	c.(2092-2094)ggC>ggT	p.G698G		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	698	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGCCCCTGGCGTGTTTTATC	0.617																																						ENST00000332578.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2092-2094)ggC>ggT		transmembrane protease, serine 9							61.0	65.0	63.0					19																	2421893		2203	4300	6503	SO:0001819	synonymous_variant	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2421893C>T	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.2094C>T	19.37:g.2421893C>T							p.G698G	NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	13	2094	+			698			Peptidase S1 2.		Q6ZND6|Q7Z411	Silent	SNP	ENST00000332578.3	37	c.2094C>T	CCDS12088.1																																																																																				0.617	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		11	137	0	0	0	0.013537	0	11	137				
ROBO1	6091	broad.mit.edu	37	3	78685112	78685112	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr3:78685112G>A	ENST00000464233.1	-	23	3297	c.3184C>T	c.(3184-3186)Cgt>Tgt	p.R1062C	ROBO1_ENST00000467549.1_Intron|ROBO1_ENST00000495273.1_Missense_Mutation_p.R1017C|ROBO1_ENST00000436010.2_Missense_Mutation_p.R1023C	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1062					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTGACAAAACGCCCATCCTTC	0.468																																						ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(3067-3069)Cgt>Tgt		roundabout, axon guidance receptor, homolog 1 (Drosophila)							151.0	154.0	153.0					3																	78685112		2100	4224	6324	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78685112G>A	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.3184C>T	3.37:g.78685112G>A	ENSP00000420321:p.Arg1062Cys					ROBO1_ENST00000464233.1_Missense_Mutation_p.R1062C|ROBO1_ENST00000467549.1_Intron|ROBO1_ENST00000495273.1_Missense_Mutation_p.R1017C	p.R1023C			Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	21	4064	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	1062					B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.3067C>T	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936108	0.52972	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000398414	T;T;T	0.61980	0.09;0.06;0.12	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.71375	0.3332	L	0.44542	1.39	0.80722	D	1	D;D;B;D	0.89917	1.0;0.996;0.092;0.999	D;P;B;D	0.83275	0.996;0.786;0.019;0.921	T	0.68644	-0.5354	9	.	.	.	.	13.1478	0.59472	0.0:0.0:0.7365:0.2635	.	1026;1062;1017;1023	Q9Y6N7-3;Q9Y6N7;B2RXI1;Q9Y6N7-4	.;ROBO1_HUMAN;.;.	C	1023;1017;1062;1017;1066	ENSP00000406043:R1023C;ENSP00000420321:R1062C;ENSP00000420637:R1017C	.	R	-	1	0	ROBO1	78767802	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	4.581000	0.60949	2.765000	0.95021	0.650000	0.86243	CGT		0.468	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		6	116	0	0	0	0.001168	0	6	116				
INPP5D	3635	broad.mit.edu	37	2	233925310	233925310	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr2:233925310C>T	ENST00000359570.5	+	1	122	c.122C>T	c.(121-123)gCg>gTg	p.A41V	INPP5D_ENST00000538935.1_Missense_Mutation_p.A41V			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	41	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CGGGCATACGCGCTCTGCGTG	0.612																																					NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			0				central_nervous_system(1)|ovary(1)	2						c.(121-123)gCg>gTg		inositol polyphosphate-5-phosphatase, 145kDa							47.0	52.0	50.0					2																	233925310		2078	4202	6280	SO:0001583	missense	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:233925310C>T	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.122C>T	2.37:g.233925310C>T	ENSP00000352575:p.Ala41Val					INPP5D_ENST00000538935.1_Missense_Mutation_p.A41V	p.A41V			Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	1	122	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	41			SH2.		O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37	c.122C>T		.	.	.	.	.	.	.	.	.	.	C	27.8	4.861212	0.91433	.	.	ENSG00000168918	ENST00000422935;ENST00000451407;ENST00000359570;ENST00000538935	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	4.83	3.93	0.45458	SH2 motif (4);	0.179904	0.48286	D	0.000189	D	0.92789	0.7707	.	.	.	0.48236	D	0.999614	D;D	0.89917	0.999;1.0	D;D	0.67103	0.915;0.949	D	0.93471	0.6819	9	0.87932	D	0	.	14.3637	0.66789	0.1492:0.8508:0.0:0.0	.	41;41	Q92835-2;Q92835	.;SHIP1_HUMAN	V	41	ENSP00000409018:A41V;ENSP00000415253:A41V;ENSP00000352575:A41V;ENSP00000441010:A41V	ENSP00000352575:A41V	A	+	2	0	INPP5D	233633554	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	7.130000	0.77235	1.015000	0.39444	0.485000	0.47835	GCG		0.612	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		12	51	0	0	0	0.010729	0	12	51				
FAM214A	56204	broad.mit.edu	37	15	52901525	52901525	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr15:52901525T>G	ENST00000261844.7	-	6	1738	c.1586A>C	c.(1585-1587)aAt>aCt	p.N529T	FAM214A_ENST00000546305.2_Missense_Mutation_p.N536T	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	529																	CTTCAACAAATTTTTGTCTTC	0.383																																						ENST00000261844.7																			0											c.(1585-1587)aAt>aCt		family with sequence similarity 214, member A							77.0	74.0	75.0					15																	52901525		1835	4100	5935	SO:0001583	missense	56204							g.chr15:52901525T>G	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.1586A>C	15.37:g.52901525T>G	ENSP00000261844:p.Asn529Thr					FAM214A_ENST00000546305.2_Missense_Mutation_p.N536T	p.N529T	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN			6	1738	-			529					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	ENST00000261844.7	37	c.1586A>C	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	T	6.094	0.385595	0.11524	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.28895	1.59;1.59	6.17	3.7	0.42460	.	0.513373	0.23354	N	0.049095	T	0.21186	0.0510	L	0.29908	0.895	0.09310	N	0.999999	B;B	0.12630	0.006;0.003	B;B	0.12156	0.007;0.003	T	0.16335	-1.0406	10	0.09843	T	0.71	.	14.2781	0.66194	0.0:0.0:0.252:0.748	.	536;529	F5H8G0;Q32MH5	.;K1370_HUMAN	T	529;529;528;536	ENSP00000261844:N529T;ENSP00000443598:N536T	ENSP00000261844:N529T	N	-	2	0	KIAA1370	50688817	0.986000	0.35501	0.305000	0.25099	0.996000	0.88848	1.771000	0.38542	1.134000	0.42165	0.533000	0.62120	AAT		0.383	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		31	85	0	0	0	0.007291	0	31	85				
MAST4	375449	broad.mit.edu	37	5	66458987	66458987	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr5:66458987C>T	ENST00000403625.2	+	29	4275	c.3980C>T	c.(3979-3981)tCc>tTc	p.S1327F	MAST4_ENST00000261569.7_Missense_Mutation_p.S1133F|MAST4_ENST00000405643.1_Missense_Mutation_p.S1148F|MAST4_ENST00000404260.3_Missense_Mutation_p.S1330F|MAST4_ENST00000403666.1_Missense_Mutation_p.S1138F	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1330	Ser-rich.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		ACTAATTCCTCCCAGAGCAGC	0.552																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(3988-3990)tCc>tTc		microtubule associated serine/threonine kinase family member 4							108.0	117.0	114.0					5																	66458987		1934	4118	6052	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66458987C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.3980C>T	5.37:g.66458987C>T	ENSP00000385727:p.Ser1327Phe					MAST4_ENST00000405643.1_Missense_Mutation_p.S1148F|MAST4_ENST00000403625.2_Missense_Mutation_p.S1327F|MAST4_ENST00000261569.7_Missense_Mutation_p.S1133F|MAST4_ENST00000403666.1_Missense_Mutation_p.S1138F	p.S1330F			O15021	MAST4_HUMAN		Lung(70;0.011)	29	4297	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	1330			Ser-rich.		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.3989C>T	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.629424	0.87660	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.74	5.74	0.90152	.	0.056550	0.64402	D	0.000001	T	0.70842	0.3270	M	0.85373	2.75	0.52099	D	0.999941	D;D	0.89917	0.999;1.0	D;D	0.83275	0.994;0.996	T	0.74250	-0.3726	10	0.72032	D	0.01	-11.0371	19.9853	0.97342	0.0:1.0:0.0:0.0	.	1330;1138	O15021;O15021-3	MAST4_HUMAN;.	F	1330;1327;1138;1148;1148;1133	ENSP00000385048:S1330F;ENSP00000385727:S1327F;ENSP00000384313:S1138F;ENSP00000384099:S1148F;ENSP00000261569:S1133F	ENSP00000261569:S1133F	S	+	2	0	MAST4	66494743	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.776000	0.85560	2.741000	0.93983	0.549000	0.68633	TCC		0.552	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			12	222	0	0	0	0.001855	0	12	222				
RYR2	6262	broad.mit.edu	37	1	237711848	237711848	+	Silent	SNP	G	G	A	rs566157997		TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr1:237711848G>A	ENST00000366574.2	+	26	3341	c.3024G>A	c.(3022-3024)gcG>gcA	p.A1008A	RYR2_ENST00000542537.1_Silent_p.A992A|RYR2_ENST00000360064.6_Silent_p.A1006A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1008	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGTGTGGGCGCGGGATCGAA	0.473													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19199	0.0		0.0	False		,,,				2504	0.0					ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(3022-3024)gcG>gcA		ryanodine receptor 2 (cardiac)							62.0	59.0	60.0					1																	237711848		1930	4146	6076	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237711848G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3024G>A	1.37:g.237711848G>A						RYR2_ENST00000360064.6_Silent_p.A1006A|RYR2_ENST00000542537.1_Silent_p.A992A	p.A1008A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		26	3341	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1008			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.3024G>A	CCDS55691.1																																																																																				0.473	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		12	41	0	0	0	0.010729	0	12	41				
TRIO	7204	broad.mit.edu	37	5	14363859	14363859	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr5:14363859T>G	ENST00000344204.4	+	14	2434	c.2410T>G	c.(2410-2412)Tct>Gct	p.S804A	TRIO_ENST00000509967.2_Missense_Mutation_p.S755A|TRIO_ENST00000537187.1_Missense_Mutation_p.S804A	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	804					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGACCTCGAGTCTTGGAATGA	0.438																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(2410-2412)Tct>Gct		trio Rho guanine nucleotide exchange factor							110.0	108.0	108.0					5																	14363859		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14363859T>G	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.2410T>G	5.37:g.14363859T>G	ENSP00000339299:p.Ser804Ala					TRIO_ENST00000537187.1_Missense_Mutation_p.S804A|TRIO_ENST00000509967.2_Missense_Mutation_p.S755A	p.S804A	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			14	2434	+	Lung NSC(4;0.000742)		804					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.2410T>G	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	T	7.185	0.590403	0.13812	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.42131	0.98;0.98;0.98	5.03	5.03	0.67393	.	0.119414	0.64402	D	0.000014	T	0.13372	0.0324	N	0.00707	-1.245	0.50632	D	0.999888	B;B;B	0.27416	0.002;0.178;0.012	B;B;B	0.24155	0.005;0.051;0.005	T	0.29822	-0.9999	10	0.05721	T	0.95	.	14.7897	0.69830	0.0:0.0:0.0:1.0	.	755;804;804	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	A	804;804;755;491	ENSP00000339299:S804A;ENSP00000446348:S804A;ENSP00000445592:S755A	ENSP00000339299:S804A	S	+	1	0	TRIO	14416859	1.000000	0.71417	0.999000	0.59377	0.910000	0.53928	4.017000	0.57167	1.908000	0.55244	0.533000	0.62120	TCT		0.438	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		6	85	0	0	0	0.001168	0	6	85				
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158|rs71318762	byFrequency	TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1				BMS1 pseudogene 20																		GCTGCCACATAAGTTGTCCTT	0.303													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		8984	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			0							g.chr22:22663087A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663087A>G								NR_027293.1						0	526	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.303	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	39	0	0	0	0.004672	0	3	39				
PAPSS2	9060	broad.mit.edu	37	10	89505689	89505689	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr10:89505689G>A	ENST00000361175.4	+	12	2176	c.1807G>A	c.(1807-1809)Gtc>Atc	p.V603I	PAPSS2_ENST00000427144.2_Missense_Mutation_p.V607I|PAPSS2_ENST00000456849.1_Missense_Mutation_p.V608I	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	603					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		AGCATGGAAGGTCCTGACAGA	0.463																																						ENST00000361175.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20						c.(1807-1809)Gtc>Atc		3'-phosphoadenosine 5'-phosphosulfate synthase 2							80.0	88.0	85.0					10																	89505689		2203	4300	6503	SO:0001583	missense	9060				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity	g.chr10:89505689G>A	AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.1807G>A	10.37:g.89505689G>A	ENSP00000354436:p.Val603Ile					PAPSS2_ENST00000427144.2_Missense_Mutation_p.V607I|PAPSS2_ENST00000456849.1_Missense_Mutation_p.V608I	p.V603I	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)	12	2176	+		Melanoma(5;0.019)|Colorectal(252;0.123)	603					Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Missense_Mutation	SNP	ENST00000361175.4	37	c.1807G>A	CCDS7385.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.264004	0.59431	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.30714	1.52;1.52;1.52	5.95	5.05	0.67936	Sulphate adenylyltransferase (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.051225	0.85682	N	0.000000	T	0.24967	0.0606	N	0.19112	0.55	0.80722	D	1	B;P	0.45902	0.023;0.868	B;P	0.46339	0.153;0.513	T	0.02603	-1.1135	10	0.14252	T	0.57	-25.4065	14.9077	0.70733	0.0681:0.0:0.9319:0.0	.	603;608	O95340;O95340-2	PAPS2_HUMAN;.	I	603;608;607;607	ENSP00000354436:V603I;ENSP00000406157:V608I;ENSP00000397123:V607I	ENSP00000354436:V603I	V	+	1	0	PAPSS2	89495669	1.000000	0.71417	0.973000	0.42090	0.995000	0.86356	5.473000	0.66774	1.530000	0.49136	0.655000	0.94253	GTC		0.463	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1			7	100	0	0	0	0.006214	0	7	100				
SS18	6760	broad.mit.edu	37	18	23612376	23612376	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr18:23612376T>G	ENST00000415083.2	-	10	1272	c.1217A>C	c.(1216-1218)tAt>tCt	p.Y406S	SS18_ENST00000539849.1_Missense_Mutation_p.Y324S|SS18_ENST00000269137.7_Missense_Mutation_p.Y375S|SS18_ENST00000545952.1_Missense_Mutation_p.Y323S|SS18_ENST00000542743.1_Missense_Mutation_p.Y323S|SS18_ENST00000542420.2_Missense_Mutation_p.Y383S	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	406	Gln-rich.				cell morphogenesis (GO:0000902)|ephrin receptor signaling pathway (GO:0048013)|intracellular signal transduction (GO:0035556)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					GTCATATCCATAAGGCCTCTG	0.453			T	"""SSX1,  SSX2"""	synovial sarcoma																																	ENST00000415083.2				Dom	yes		18	18q11.2	6760	T	"""synovial sarcoma translocation, chromosome 18"""			M	"""SSX1,  SSX2"""		synovial sarcoma	SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	0				endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19						c.(1216-1218)tAt>tCt		synovial sarcoma translocation, chromosome 18							212.0	190.0	197.0					18																	23612376		2203	4300	6503	SO:0001583	missense	6760				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	g.chr18:23612376T>G	X79201	CCDS32807.1, CCDS54183.1	18q11.2	2008-07-28				ENSG00000141380			11340	protein-coding gene	gene with protein product		600192		SSXT		8152806, 7951320, 16484776	Standard	XM_005258334		Approved	SYT	uc002kvm.3	Q15532		ENST00000415083.2:c.1217A>C	18.37:g.23612376T>G	ENSP00000414516:p.Tyr406Ser					SS18_ENST00000545952.1_Missense_Mutation_p.Y323S|SS18_ENST00000542420.2_Missense_Mutation_p.Y383S|SS18_ENST00000542743.1_Missense_Mutation_p.Y323S|SS18_ENST00000269137.7_Missense_Mutation_p.Y375S|SS18_ENST00000539849.1_Missense_Mutation_p.Y324S	p.Y406S	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN			10	1272	-	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)		406			Gln-rich.		B0YJ95|Q16404|Q4VAX1|Q9BXC6	Missense_Mutation	SNP	ENST00000415083.2	37	c.1217A>C	CCDS32807.1	.	.	.	.	.	.	.	.	.	.	T	17.25	3.342808	0.61073	.	.	ENSG00000141380	ENST00000415083;ENST00000269138;ENST00000269137;ENST00000542420;ENST00000542743;ENST00000539849;ENST00000545952;ENST00000539244	T;T;T;T;T	0.46063	0.88;1.0;0.99;0.97;0.99	5.01	5.01	0.66863	.	0.056198	0.64402	D	0.000001	T	0.37210	0.0995	L	0.46157	1.445	0.58432	D	0.999999	B;B;B	0.30482	0.18;0.281;0.281	B;B;B	0.22753	0.041;0.041;0.041	T	0.34329	-0.9833	10	0.87932	D	0	-5.8679	15.0182	0.71605	0.0:0.0:0.0:1.0	.	323;375;406	B4E2J6;Q4VAX0;Q15532	.;.;SSXT_HUMAN	S	409;406;375;383;323;324;323;121	ENSP00000269137:Y375S;ENSP00000438066:Y383S;ENSP00000444551:Y323S;ENSP00000444647:Y324S;ENSP00000443097:Y323S	ENSP00000269137:Y375S	Y	-	2	0	SS18	21866374	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.655000	0.83696	2.014000	0.59158	0.383000	0.25322	TAT		0.453	SS18-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446226.1			6	196	0	0	0	0.001984	0	6	196				
RXRG	6258	broad.mit.edu	37	1	165370515	165370515	+	Silent	SNP	C	C	T	rs149087358		TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr1:165370515C>T	ENST00000359842.5	-	10	1679	c.1377G>A	c.(1375-1377)ccG>ccA	p.P459P		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	459	Ligand-binding. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	TGATCTGCAGCGGGGTCTCCA	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13329	0.0		0.0	False		,,,				2504	0.0					ENST00000359842.5																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38						c.(1375-1377)ccG>ccA		retinoid X receptor, gamma	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	C		3,4403	6.2+/-15.9	0,3,2200	80.0	79.0	80.0		1377	-8.8	0.9	1	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RXRG	NM_006917.4		0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308		459/464	165370515	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	6258				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr1:165370515C>T	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.1377G>A	1.37:g.165370515C>T							p.P459P	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN			10	1679	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		459			Ligand-binding (By similarity).		A6NIP1|Q6IBU7	Silent	SNP	ENST00000359842.5	37	c.1377G>A	CCDS1248.1																																																																																				0.607	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917		22	94	0	0	0	0.003330	0	22	94				
KIF21B	23046	broad.mit.edu	37	1	200972744	200972744	+	Silent	SNP	C	C	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr1:200972744C>T	ENST00000422435.2	-	8	1498	c.1182G>A	c.(1180-1182)cgG>cgA	p.R394R	KIF21B_ENST00000360529.5_Silent_p.R394R|KIF21B_ENST00000461742.2_Silent_p.R394R|KIF21B_ENST00000332129.2_Silent_p.R394R	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	394					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R394R(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCATCTGCAGCCGAGCAATCT	0.562																																						ENST00000332129.2																			1	Substitution - coding silent(1)	p.R394R(1)	endometrium(1)	autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(1180-1182)cgG>cgA		kinesin family member 21B							142.0	111.0	122.0					1																	200972744		2203	4300	6503	SO:0001819	synonymous_variant	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200972744C>T	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.1182G>A	1.37:g.200972744C>T						KIF21B_ENST00000461742.2_Silent_p.R394R|KIF21B_ENST00000360529.5_Silent_p.R394R|KIF21B_ENST00000422435.2_Silent_p.R394R	p.R394R	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			8	1498	-			394					B2RP62|B7ZMI0|Q5T4J3	Silent	SNP	ENST00000422435.2	37	c.1182G>A	CCDS58056.1																																																																																				0.562	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		18	69	0	0	0	0.007413	0	18	69				
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			4	74	0	0	0	0.009096	0	4	74				
USP36	57602	broad.mit.edu	37	17	76803039	76803039	+	Splice_Site	SNP	A	A	C			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr17:76803039A>C	ENST00000542802.3	-	14	2529		c.e14+1		USP36_ENST00000312010.6_Splice_Site|USP36_ENST00000449938.2_Splice_Site|USP36_ENST00000588467.1_5'Flank			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36						protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CCACACACCCACCTTCTTGGC	0.567																																						ENST00000312010.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34						c.e14+1		ubiquitin specific peptidase 36							106.0	96.0	99.0					17																	76803039		2203	4300	6503	SO:0001630	splice_region_variant	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76803039A>C	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.2085+1T>G	17.37:g.76803039A>C						USP36_ENST00000542802.2_Splice_Site|USP36_ENST00000449938.2_Splice_Site		NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		14	2410	-								Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Splice_Site	SNP	ENST00000542802.3	37		CCDS32755.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.521070	0.85495	.	.	ENSG00000055483	ENST00000312010;ENST00000449938;ENST00000542802	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3163	0.60409	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP36	74314634	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.248000	0.89832	1.974000	0.57490	0.533000	0.62120	.		0.567	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090	Intron	8	90	0	0	0	0.006214	0	8	90				
KIF1B	23095	broad.mit.edu	37	1	10342413	10342413	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr1:10342413A>G	ENST00000377086.1	+	15	1458	c.1256A>G	c.(1255-1257)tAc>tGc	p.Y419C	KIF1B_ENST00000377083.1_Intron|KIF1B_ENST00000377081.1_Missense_Mutation_p.Y419C|KIF1B_ENST00000377093.4_Intron|KIF1B_ENST00000263934.6_Intron			O60333	KIF1B_HUMAN	kinesin family member 1B	419					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AAGCATAGATACTTGCTAGCC	0.453																																						ENST00000377086.1																			0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(1255-1257)tAc>tGc		kinesin family member 1B							76.0	72.0	73.0					1																	10342413		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10342413A>G	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.1256A>G	1.37:g.10342413A>G	ENSP00000366290:p.Tyr419Cys					KIF1B_ENST00000377081.1_Missense_Mutation_p.Y419C|KIF1B_ENST00000377083.1_Intron|KIF1B_ENST00000377093.4_Intron|KIF1B_ENST00000263934.6_Intron	p.Y419C			O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	15	1458	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	419					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.1256A>G		.	.	.	.	.	.	.	.	.	.	A	13.79	2.343140	0.41498	.	.	ENSG00000054523	ENST00000355249;ENST00000377086;ENST00000377081	T;T	0.71817	-0.6;-0.6	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.80144	0.4569	.	.	.	0.51233	D	0.999919	P;D;D	0.69078	0.943;0.997;0.997	P;P;P	0.56865	0.525;0.808;0.808	T	0.82010	-0.0669	9	0.54805	T	0.06	.	15.7585	0.78058	1.0:0.0:0.0:0.0	.	405;419;419	Q4R9M9;Q4VXC4;O60333	.;.;KIF1B_HUMAN	C	419	ENSP00000366290:Y419C;ENSP00000366284:Y419C	ENSP00000347392:Y419C	Y	+	2	0	KIF1B	10265000	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.522000	0.81844	2.191000	0.70037	0.529000	0.55759	TAC		0.453	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			13	37	0	0	0	0.002450	0	13	37				
NT5C2	22978	broad.mit.edu	37	10	104866420	104866420	+	Silent	SNP	A	A	C	rs146517994		TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr10:104866420A>C	ENST00000404739.3	-	3	242	c.219T>G	c.(217-219)acT>acG	p.T73T	NT5C2_ENST00000343289.5_Silent_p.T73T|NT5C2_ENST00000369857.4_Intron|NT5C2_ENST00000423468.2_Silent_p.T44T			P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	73					cell death (GO:0008219)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|nucleobase-containing small molecule metabolic process (GO:0055086)|phosphorylation (GO:0016310)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleoside phosphotransferase activity (GO:0050146)|nucleotide binding (GO:0000166)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	ATCTCTCCACAGTAAGCTCAA	0.388																																						ENST00000343289.5																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16						c.(217-219)acT>acG		5'-nucleotidase, cytosolic II	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)						149.0	150.0	150.0					10																	104866420		2203	4300	6503	SO:0001819	synonymous_variant	22978				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding	g.chr10:104866420A>C	D38524	CCDS7544.1	10q24.32	2014-03-03	2002-04-18	2002-04-19	ENSG00000076685	ENSG00000076685			8022	protein-coding gene	gene with protein product	"""purine 5' nucleotidase"""	600417	"""5'-nucleotidase (purine), cytosolic type B"""	NT5B		7999131, 24482476	Standard	NM_012229		Approved	PNT5, GMP, cN-II, SPG65	uc001kwq.3	P49902	OTTHUMG00000018981	ENST00000404739.3:c.219T>G	10.37:g.104866420A>C						NT5C2_ENST00000423468.2_Silent_p.T44T|NT5C2_ENST00000369857.4_Intron|NT5C2_ENST00000404739.3_Silent_p.T73T	p.T73T	NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	P49902	5NTC_HUMAN		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	4	306	-		all_hematologic(284;0.176)|Colorectal(252;0.178)	73					B7Z382|D3DR91|Q5JUV5	Silent	SNP	ENST00000404739.3	37	c.219T>G	CCDS7544.1																																																																																				0.388	NT5C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050121.1	NM_012229		5	164	0	0	0	0.001168	0	5	164				
LUC7L	55692	broad.mit.edu	37	16	242931	242931	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr16:242931G>C	ENST00000293872.8	-	7	881	c.771C>G	c.(769-771)agC>agG	p.S257R	LUC7L_ENST00000397783.1_Missense_Mutation_p.S257R|LUC7L_ENST00000337351.4_Missense_Mutation_p.S257R|LUC7L_ENST00000397780.1_Missense_Mutation_p.S204R	NM_201412.1	NP_958815.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	257	Arg/Ser-rich.				mRNA splice site selection (GO:0006376)|negative regulation of striated muscle tissue development (GO:0045843)	U1 snRNP (GO:0005685)	identical protein binding (GO:0042802)|mRNA binding (GO:0003729)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				CTCACCTCCTGCTCAGACGCT	0.552																																						ENST00000337351.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11						c.(769-771)agC>agG		LUC7-like (S. cerevisiae)							224.0	196.0	205.0					16																	242931		2203	4300	6503	SO:0001583	missense	55692						metal ion binding	g.chr16:242931G>C	AY005111	CCDS10401.1, CCDS32348.1	16p13.3	2010-01-25	2001-11-28		ENSG00000007392	ENSG00000007392			6723	protein-coding gene	gene with protein product		607782	"""LUC7 (S. cerevisiae)-like"""				Standard	NM_201412		Approved	LUC7B1, hLuc7B1, Luc7	uc002cgc.1	Q9NQ29	OTTHUMG00000060730	ENST00000293872.8:c.771C>G	16.37:g.242931G>C	ENSP00000293872:p.Ser257Arg					LUC7L_ENST00000293872.8_Missense_Mutation_p.S257R|LUC7L_ENST00000397783.1_Missense_Mutation_p.S257R|LUC7L_ENST00000397780.1_Missense_Mutation_p.S204R	p.S257R	NM_018032.3	NP_060502.1	Q9NQ29	LUC7L_HUMAN			7	894	-		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)	257			Arg/Ser-rich.		B8ZZ13|Q96S32|Q9NPH4	Missense_Mutation	SNP	ENST00000293872.8	37	c.771C>G	CCDS32348.1	.	.	.	.	.	.	.	.	.	.	G	4.090	0.014667	0.07959	.	.	ENSG00000007392	ENST00000337351;ENST00000293872;ENST00000397783;ENST00000429378;ENST00000397780;ENST00000430864	T;T;T;T	0.45668	0.89;0.89;0.97;3.62	5.13	0.907	0.19321	.	0.308092	0.41001	D	0.000969	T	0.15782	0.0380	N	0.03608	-0.345	0.24468	N	0.994406	B	0.02656	0.0	B	0.01281	0.0	T	0.29027	-1.0025	10	0.08599	T	0.76	.	9.7812	0.40649	0.3051:0.0:0.6949:0.0	.	257	Q9NQ29	LUC7L_HUMAN	R	257;257;257;56;204;171	ENSP00000337507:S257R;ENSP00000380885:S257R;ENSP00000413033:S56R;ENSP00000380882:S204R	ENSP00000293872:S257R	S	-	3	2	LUC7L	182932	0.998000	0.40836	1.000000	0.80357	0.962000	0.63368	0.204000	0.17335	0.277000	0.22141	0.462000	0.41574	AGC		0.552	LUC7L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134239.1			16	229	0	0	0	0.004990	0	16	229				
LMTK2	22853	broad.mit.edu	37	7	97823753	97823753	+	Missense_Mutation	SNP	G	G	T	rs373561525		TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr7:97823753G>T	ENST00000297293.5	+	11	4269	c.3976G>T	c.(3976-3978)Gac>Tac	p.D1326Y		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1326					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CAGCAACGAGGACGGAAGGCA	0.622																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(3976-3978)Gac>Tac		lemur tyrosine kinase 2							105.0	100.0	102.0					7																	97823753		2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97823753G>T	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.3976G>T	7.37:g.97823753G>T	ENSP00000297293:p.Asp1326Tyr						p.D1326Y	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			11	4269	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		1326					A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.3976G>T	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798275	0.70567	.	.	ENSG00000164715	ENST00000297293	T	0.80824	-1.42	6.08	5.19	0.71726	.	0.222398	0.53938	D	0.000052	D	0.87038	0.6078	M	0.72118	2.19	0.44254	D	0.997105	D	0.76494	0.999	P	0.60173	0.87	D	0.87772	0.2606	10	0.72032	D	0.01	.	14.7973	0.69886	0.0696:0.0:0.9304:0.0	.	1326	Q8IWU2	LMTK2_HUMAN	Y	1326	ENSP00000297293:D1326Y	ENSP00000297293:D1326Y	D	+	1	0	LMTK2	97661689	1.000000	0.71417	0.923000	0.36655	0.617000	0.37484	4.128000	0.57951	2.894000	0.99253	0.655000	0.94253	GAC		0.622	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		29	89	1	0	2.24059e-21	0.006320	4.76722e-21	29	89				
ESYT2	57488	broad.mit.edu	37	7	158534551	158534551	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr7:158534551G>C	ENST00000251527.5	-	17	1977	c.1912C>G	c.(1912-1914)Cac>Gac	p.H638D	ESYT2_ENST00000435514.2_Missense_Mutation_p.H73D	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	666			S -> G (in dbSNP:rs2305473). {ECO:0000269|PubMed:14702039}.		endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						GAGTGTTGGTGGTCTGGAGGC	0.478																																						ENST00000251527.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						c.(1912-1914)Cac>Gac		extended synaptotagmin-like protein 2							73.0	81.0	78.0					7																	158534551		2198	4295	6493	SO:0001583	missense	57488					integral to membrane|plasma membrane		g.chr7:158534551G>C	AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"""Synaptotagmins"""	22211	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member B"""	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.1912C>G	7.37:g.158534551G>C	ENSP00000251527:p.His638Asp					ESYT2_ENST00000435514.2_Missense_Mutation_p.H73D	p.H638D	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN			17	1977	-			666		S -> G (in dbSNP:rs2305473).			A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Missense_Mutation	SNP	ENST00000251527.5	37	c.1912C>G	CCDS34791.1	.	.	.	.	.	.	.	.	.	.	G	1.164	-0.642951	0.03531	.	.	ENSG00000117868	ENST00000251527;ENST00000421679;ENST00000275418;ENST00000435514;ENST00000377650;ENST00000429474	T;T;T	0.22743	1.94;1.94;1.94	5.75	1.79	0.24919	C2 calcium/lipid-binding domain, CaLB (1);	0.562630	0.20891	N	0.083833	T	0.15392	0.0371	L	0.55481	1.735	0.35696	D	0.815191	B;B	0.22851	0.076;0.025	B;B	0.23574	0.047;0.045	T	0.14839	-1.0458	10	0.12103	T	0.63	-12.6164	4.7828	0.13210	0.3438:0.148:0.5082:0.0	.	638;666	A0FGR8-2;A0FGR8	.;ESYT2_HUMAN	D	638;687;629;73;73;462	ENSP00000251527:H638D;ENSP00000275418:H629D;ENSP00000411488:H73D	ENSP00000251527:H638D	H	-	1	0	ESYT2	158227312	1.000000	0.71417	0.990000	0.47175	0.123000	0.20343	1.791000	0.38744	0.306000	0.22856	-0.142000	0.14014	CAC		0.478	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322647.1	NM_020728		26	98	0	0	0	0.007291	0	26	98				
HOXD4	3233	broad.mit.edu	37	2	177017450	177017450	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr2:177017450G>A	ENST00000306324.3	+	2	960	c.548G>A	c.(547-549)cGt>cAt	p.R183H	HOXD3_ENST00000468418.3_5'UTR|MIR10B_ENST00000385011.1_RNA	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	183					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		ACAAGGCGCCGTCGGATTGAA	0.527																																						ENST00000306324.3																			0				kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(547-549)cGt>cAt		homeobox D4							73.0	76.0	75.0					2																	177017450		2203	4300	6503	SO:0001583	missense	3233					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177017450G>A		CCDS2269.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170166	ENSG00000170166		"""Homeoboxes / ANTP class : HOXL subclass"""	5138	protein-coding gene	gene with protein product		142981	"""homeo box D4"""	HOX4B, HOX4		1973146, 1358459	Standard	NM_014621		Approved		uc002uks.3	P09016	OTTHUMG00000132515	ENST00000306324.3:c.548G>A	2.37:g.177017450G>A	ENSP00000302548:p.Arg183His					HOXD3_ENST00000468418.3_5'UTR	p.R183H	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)	2	960	+			183					B2R9R3|Q96AU0	Missense_Mutation	SNP	ENST00000306324.3	37	c.548G>A	CCDS2269.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043444	0.75732	.	.	ENSG00000170166	ENST00000306324	D	0.96168	-3.93	5.38	5.38	0.77491	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98482	0.9494	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99525	1.0959	10	0.87932	D	0	.	19.1342	0.93420	0.0:0.0:1.0:0.0	.	183	P09016	HXD4_HUMAN	H	183	ENSP00000302548:R183H	ENSP00000302548:R183H	R	+	2	0	HOXD4	176725696	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.859000	0.99545	2.516000	0.84829	0.643000	0.83706	CGT		0.527	HOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255697.2			6	71	0	0	0	0.001168	0	6	71				
PHACTR1	221692	broad.mit.edu	37	6	13228134	13228134	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr6:13228134G>A	ENST00000379350.1	+	8	1202	c.1073G>A	c.(1072-1074)gGc>gAc	p.G358D	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Missense_Mutation_p.G358D|PHACTR1_ENST00000457702.2_Missense_Mutation_p.G213D			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	358					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GGACCTATGGGCCTTCCAGAA	0.483																																						ENST00000379350.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(1072-1074)gGc>gAc		phosphatase and actin regulator 1							165.0	166.0	166.0					6																	13228134		1940	4141	6081	SO:0001583	missense	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13228134G>A	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.1073G>A	6.37:g.13228134G>A	ENSP00000368655:p.Gly358Asp					PHACTR1_ENST00000457702.2_Missense_Mutation_p.G213D|PHACTR1_ENST00000332995.7_Missense_Mutation_p.G358D|PHACTR1_ENST00000379345.2_Intron	p.G358D			Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		8	1202	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	358					A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379350.1	37	c.1073G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.225531|4.225531	0.79576|0.79576	.|.	.|.	ENSG00000112137|ENSG00000112137	ENST00000415087|ENST00000379350;ENST00000332995;ENST00000432934;ENST00000457702	.|T;T;T	.|0.33654	.|1.4;1.44;1.48	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.218683	.|0.48767	.|D	.|0.000173	T|T	0.38214|0.38214	0.1032|0.1032	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;0.999	.|D;D;D	.|0.97110	.|1.0;0.922;0.964	T|T	0.41787|0.41787	-0.9489|-0.9489	5|10	.|0.62326	.|D	.|0.03	-20.4581|-20.4581	19.5705|19.5705	0.95413|0.95413	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|427;358;358	.|E7ESR5;Q9C0D0;Q9C0D0-2	.|.;PHAR1_HUMAN;.	T|D	193|358;358;427;213	.|ENSP00000368655:G358D;ENSP00000329880:G358D;ENSP00000397669:G213D	.|ENSP00000329880:G358D	A|G	+|+	1|2	0|0	PHACTR1|PHACTR1	13336113|13336113	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.666000|4.666000	0.61554|0.61554	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCC|GGC		0.483	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		18	160	0	0	0	0.007413	0	18	160				
SP8	221833	broad.mit.edu	37	7	20824912	20824912	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr7:20824912T>C	ENST00000361443.4	-	3	707	c.470A>G	c.(469-471)cAc>cGc	p.H157R	SP8_ENST00000418710.2_Missense_Mutation_p.H175R	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	157					dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						CACCGGCTGGTGGGAGCCGTC	0.706																																						ENST00000361443.4																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(469-471)cAc>cGc		Sp8 transcription factor							4.0	5.0	5.0					7																	20824912		1553	3089	4642	SO:0001583	missense	221833				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:20824912T>C		CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.470A>G	7.37:g.20824912T>C	ENSP00000354482:p.His157Arg					SP8_ENST00000418710.2_Missense_Mutation_p.H175R	p.H157R	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN			3	707	-			157					Q7Z615|Q7Z616|Q96MJ1	Missense_Mutation	SNP	ENST00000361443.4	37	c.470A>G	CCDS5372.1	.	.	.	.	.	.	.	.	.	.	T	15.61	2.884050	0.51908	.	.	ENSG00000164651	ENST00000297210;ENST00000418710;ENST00000361443	T;T	0.11277	2.79;2.79	3.26	3.26	0.37387	.	0.130609	0.50627	U	0.000104	T	0.11452	0.0279	L	0.53249	1.67	0.54753	D	0.999982	P;P	0.41524	0.753;0.753	B;B	0.40009	0.316;0.316	T	0.15521	-1.0434	10	0.22109	T	0.4	.	11.4081	0.49911	0.0:0.0:0.0:1.0	.	157;157	Q7Z615;Q8IXZ3	.;SP8_HUMAN	R	133;175;157	ENSP00000408792:H175R;ENSP00000354482:H157R	ENSP00000297210:H133R	H	-	2	0	SP8	20791437	1.000000	0.71417	0.996000	0.52242	0.965000	0.64279	1.592000	0.36676	1.355000	0.45865	0.260000	0.18958	CAC		0.706	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326904.2			4	7	0	0	0	0.009096	0	4	7				
BMS1P20	96610	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157|rs71318762	byFrequency	TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1				BMS1 pseudogene 20																		AGCTGCCACATAAGTTGTCCT	0.299													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		9186	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			0							g.chr22:22663086T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663086T>G								NR_027293.1						0	525	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.299	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	40	0	0	0	0.004672	0	3	40				
COL6A1	1291	broad.mit.edu	37	21	47423618	47423618	+	Silent	SNP	C	C	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr21:47423618C>T	ENST00000361866.3	+	35	2892	c.2778C>T	c.(2776-2778)ttC>ttT	p.F926F	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	926	C-terminal globular domain.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		TGACCCGCTTCTACCGCGAGG	0.642																																						ENST00000361866.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(2776-2778)ttC>ttT		collagen, type VI, alpha 1	Palifermin(DB00039)						33.0	27.0	30.0					21																	47423618		2202	4299	6501	SO:0001819	synonymous_variant	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47423618C>T	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.2778C>T	21.37:g.47423618C>T						COL6A1_ENST00000498614.1_3'UTR	p.F926F	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	35	2892	+	all_hematologic(128;0.24)		926			C-terminal globular domain.|VWFA 3.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Silent	SNP	ENST00000361866.3	37	c.2778C>T	CCDS13727.1																																																																																				0.642	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		7	27	0	0	0	0.001984	0	7	27				
ZNF594	84622	broad.mit.edu	37	17	5085657	5085657	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr17:5085657G>A	ENST00000399604.4	-	1	2035	c.1895C>T	c.(1894-1896)tCt>tTt	p.S632F	ZNF594_ENST00000575779.1_Missense_Mutation_p.S632F			Q96JF6	ZN594_HUMAN	zinc finger protein 594	632					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						ACCCCTAAAAGATTTCCCACA	0.398																																						ENST00000399604.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(1894-1896)tCt>tTt		zinc finger protein 594							129.0	137.0	134.0					17																	5085657		2109	4270	6379	SO:0001583	missense	84622				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:5085657G>A	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.1895C>T	17.37:g.5085657G>A	ENSP00000382513:p.Ser632Phe					ZNF594_ENST00000575779.1_Missense_Mutation_p.S632F	p.S632F			Q96JF6	ZN594_HUMAN			1	2035	-			632					Q6RFS0	Missense_Mutation	SNP	ENST00000399604.4	37	c.1895C>T	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	g	10.14	1.268606	0.23136	.	.	ENSG00000180626	ENST00000399604;ENST00000389222	T	0.36520	1.25	1.41	1.41	0.22369	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48572	0.1507	M	0.64630	1.985	0.09310	N	1	D	0.71674	0.998	D	0.63597	0.916	T	0.24225	-1.0166	9	0.62326	D	0.03	.	5.5765	0.17227	0.0:0.3527:0.6473:0.0	.	632	Q96JF6	ZN594_HUMAN	F	632;227	ENSP00000382513:S632F	ENSP00000373874:S227F	S	-	2	0	ZNF594	5026381	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.178000	0.09782	0.776000	0.33473	0.393000	0.25936	TCT		0.398	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		11	174	0	0	0	0.010729	0	11	174				
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529		TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677																																						ENST00000333822.4																			4	Substitution - Missense(4)	p.C95S(4)	endometrium(3)|kidney(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(283-285)Tgc>Agc		keratin associated protein 4-8							7.0	11.0	10.0					17																	39254054		685	1582	2267	SO:0001583	missense	728224					keratin filament		g.chr17:39254054A>T	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.283T>A	17.37:g.39254054A>T	ENSP00000328444:p.Cys95Ser						p.C95S	NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN			1	339	-			95			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.283T>A	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.755714	0.49362	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.02280	4.36	3.11	2.01	0.26516	.	0.000000	0.52532	U	0.000067	T	0.04497	0.0123	M	0.83223	2.63	0.25182	N	0.99019	B	0.21606	0.058	B	0.27887	0.084	T	0.21793	-1.0235	10	0.54805	T	0.06	.	6.3859	0.21559	0.8715:0.0:0.1285:0.0	.	95	Q9BYQ9	KRA48_HUMAN	S	95;80	ENSP00000328444:C95S	ENSP00000414561:C80S	C	-	1	0	KRTAP4-8	36507580	0.999000	0.42202	0.393000	0.26258	0.649000	0.38597	3.122000	0.50446	0.404000	0.25506	0.374000	0.22700	TGC		0.677	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		4	70	0	0	0	0.004482	0	4	70				
SPOP	8405	broad.mit.edu	37	17	47696424	47696424	+	Missense_Mutation	SNP	G	G	T	rs193921065		TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr17:47696424G>T	ENST00000393328.2	-	6	764	c.399C>A	c.(397-399)ttC>ttA	p.F133L	SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000393331.3_Missense_Mutation_p.F133L	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F133L(7)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TGAATTTCTTGAATCCCCAGT	0.448										Prostate(2;0.17)																												ENST00000393331.3																			7	Substitution - Missense(7)	p.F133L(7)	prostate(7)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)ttC>ttA		speckle-type POZ protein							118.0	120.0	119.0					17																	47696424		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696424G>T	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.399C>A	17.37:g.47696424G>T	ENSP00000377001:p.Phe133Leu	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000393328.2_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L	p.F133L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	869	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.399C>A	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981900	0.74474	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.41	4.33	0.51752	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	M	0.80847	2.515	0.80722	D	1	P	0.52692	0.955	P	0.55087	0.768	T	0.62732	-0.6792	10	0.44086	T	0.13	-9.6576	13.4952	0.61421	0.0813:0.0:0.9187:0.0	.	133	O43791	SPOP_HUMAN	L	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133L;ENSP00000377004:F133L;ENSP00000240327:F133L;ENSP00000425905:F133L;ENSP00000420908:F133L;ENSP00000426986:F133L;ENSP00000420960:F133L;ENSP00000426262:F133L;ENSP00000424119:F133L	ENSP00000240327:F133L	F	-	3	2	SPOP	45051423	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.591000	0.36665	1.345000	0.45676	0.563000	0.77884	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		27	117	1	0	5.61819e-17	0.005443	1.17046e-16	27	117				
CTNNA3	29119	broad.mit.edu	37	10	67680276	67680276	+	Nonsense_Mutation	SNP	G	G	A	rs202196166		TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr10:67680276G>A	ENST00000433211.2	-	18	2674	c.2500C>T	c.(2500-2502)Cga>Tga	p.R834*	CTNNA3_ENST00000373744.4_Nonsense_Mutation_p.R834*|CTNNA3_ENST00000373735.1_5'UTR	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.R834*(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CTCTGGATTCGGATGATCTTG	0.463																																						ENST00000433211.1																			2	Substitution - Nonsense(2)	p.R834*(2)	endometrium(2)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						c.(2500-2502)Cga>Tga		catenin (cadherin-associated protein), alpha 3							94.0	90.0	91.0					10																	67680276		2203	4300	6503	SO:0001587	stop_gained	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:67680276G>A	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.2500C>T	10.37:g.67680276G>A	ENSP00000389714:p.Arg834*					CTNNA3_ENST00000373744.4_Nonsense_Mutation_p.R834*|CTNNA3_ENST00000373735.1_Nonsense_Mutation_p.R173*	p.R834*	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN			18	2674	-			834						Nonsense_Mutation	SNP	ENST00000433211.2	37	c.2500C>T	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	G	40	8.073432	0.98640	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000373735	.	.	.	5.88	3.89	0.44902	.	0.325448	0.22238	N	0.062738	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.2647	8.1478	0.31121	0.0:0.1272:0.5851:0.2877	.	.	.	.	X	834;834;173	.	ENSP00000362840:R173X	R	-	1	2	CTNNA3	67350282	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.916000	0.75776	1.511000	0.48818	-0.148000	0.13756	CGA		0.463	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		25	108	0	0	0	0.005443	0	25	108				
PHTF1	10745	broad.mit.edu	37	1	114254647	114254647	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr1:114254647C>T	ENST00000369604.1	-	9	1355	c.872G>A	c.(871-873)cGt>cAt	p.R291H	PHTF1_ENST00000357783.2_Missense_Mutation_p.R291H|PHTF1_ENST00000369598.1_Missense_Mutation_p.R246H|PHTF1_ENST00000369596.2_Missense_Mutation_p.R238H|PHTF1_ENST00000369600.1_Missense_Mutation_p.R238H|PHTF1_ENST00000393357.2_Missense_Mutation_p.R291H|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000447664.2_3'UTR			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	291					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACACTCCTACGCAATAATAT	0.413																																						ENST00000369604.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(871-873)cGt>cAt		putative homeodomain transcription factor 1							130.0	127.0	128.0					1																	114254647		2203	4300	6503	SO:0001583	missense	10745					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:114254647C>T	AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.872G>A	1.37:g.114254647C>T	ENSP00000358617:p.Arg291His					PHTF1_ENST00000369598.1_Missense_Mutation_p.R246H|PHTF1_ENST00000369596.2_Missense_Mutation_p.R238H|PHTF1_ENST00000393357.2_Missense_Mutation_p.R291H|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000357783.2_Missense_Mutation_p.R291H|PHTF1_ENST00000447664.2_3'UTR|PHTF1_ENST00000369600.1_Missense_Mutation_p.R238H	p.R291H			Q9UMS5	PHTF1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	1355	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	291					Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Missense_Mutation	SNP	ENST00000369604.1	37	c.872G>A	CCDS861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.30|17.30	3.353537|3.353537	0.61293|0.61293	.|.	.|.	ENSG00000116793|ENSG00000116793	ENST00000369597;ENST00000393357;ENST00000369596;ENST00000369598;ENST00000369600;ENST00000369604;ENST00000357783|ENST00000412670	.|.	.|.	.|.	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	0.277859|.	0.38548|.	N|.	0.001643|.	T|T	0.40272|0.40272	0.1110|0.1110	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	B;D;B|.	0.63046|.	0.074;0.992;0.231|.	B;P;B|.	0.47786|.	0.008;0.557;0.018|.	T|T	0.30179|0.30179	-0.9987|-0.9987	9|5	0.72032|.	D|.	0.01|.	-14.2617|-14.2617	15.0834|15.0834	0.72133|0.72133	0.0:0.8587:0.1413:0.0|0.0:0.8587:0.1413:0.0	.|.	291;46;291|.	Q9UMS5;Q5TCR1;Q9UMS5-2|.	PHTF1_HUMAN;.;.|.	H|I	246;291;238;246;238;291;291|47	.|.	ENSP00000350428:R291H|.	R|V	-|-	2|1	0|0	PHTF1|PHTF1	114056170|114056170	0.956000|0.956000	0.32656|0.32656	0.893000|0.893000	0.35052|0.35052	0.457000|0.457000	0.32468|0.32468	2.059000|2.059000	0.41384|0.41384	2.627000|2.627000	0.88993|0.88993	0.460000|0.460000	0.39030|0.39030	CGT|GTA		0.413	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032666.1	NM_006608		22	63	0	0	0	0.016522	0	22	63				
MME	4311	broad.mit.edu	37	3	154861330	154861330	+	Silent	SNP	A	A	G			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr3:154861330A>G	ENST00000460393.1	+	13	1407	c.1287A>G	c.(1285-1287)gaA>gaG	p.E429E	MME_ENST00000492661.1_Silent_p.E429E|MME_ENST00000493237.1_Silent_p.E429E|MME_ENST00000360490.2_Silent_p.E429E|MME_ENST00000462745.1_Silent_p.E429E	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	429					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	TTTATGTGGAAGCAGCATTTG	0.413																																						ENST00000460393.1																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(1285-1287)gaA>gaG		membrane metallo-endopeptidase	Candoxatril(DB00616)						211.0	207.0	209.0					3																	154861330		2203	4300	6503	SO:0001819	synonymous_variant	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154861330A>G		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1287A>G	3.37:g.154861330A>G						MME_ENST00000493237.1_Silent_p.E429E|MME_ENST00000462745.1_Silent_p.E429E|MME_ENST00000492661.1_Silent_p.E429E|MME_ENST00000360490.2_Silent_p.E429E	p.E429E	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		13	1407	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	429					A8K6U6|D3DNJ9|Q3MIX4	Silent	SNP	ENST00000460393.1	37	c.1287A>G	CCDS3172.1																																																																																				0.413	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		20	91	0	0	0	0.010504	0	20	91				
OBSCN	84033	broad.mit.edu	37	1	228433202	228433202	+	Silent	SNP	G	G	C	rs374351944		TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr1:228433202G>C	ENST00000422127.1	+	12	3614	c.3570G>C	c.(3568-3570)gtG>gtC	p.V1190V	OBSCN_ENST00000284548.11_Silent_p.V1190V|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Silent_p.V1282V	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1190	Ig-like 12.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTGTGAGGTGGCCCAGCCCC	0.607																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(3844-3846)gtG>gtC		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							82.0	82.0	82.0					1																	228433202		2096	4202	6298	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228433202G>C	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.3570G>C	1.37:g.228433202G>C						OBSCN_ENST00000422127.1_Silent_p.V1190V|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.V1190V	p.V1282V	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			13	3920	+		Prostate(94;0.0405)	261			Ig-like 13.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.3846G>C	CCDS58065.1																																																																																				0.607	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		11	71	0	0	0	0.001855	0	11	71				
CADM1	23705	broad.mit.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr11:115080343G>T	ENST00000452722.3	-	8	1049	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_ENST00000537140.1_Intron|CADM1_ENST00000537058.1_Silent_p.T343T|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000542447.2_Intron	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.T343T(5)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggtggtggtggttgttgtgg	0.433																																						ENST00000537058.1																			5	Substitution - coding silent(5)	p.T343T(5)	kidney(3)|lung(2)	cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(1027-1029)acC>acA		cell adhesion molecule 1							45.0	50.0	49.0					11																	115080343		2201	4296	6497	SO:0001819	synonymous_variant	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115080343G>T	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1029C>A	11.37:g.115080343G>T						CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000536727.1_Intron	p.T343T			Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	8	1049	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	343	PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).					Silent	SNP	ENST00000452722.3	37	c.1029C>A	CCDS8373.1																																																																																				0.433	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		6	56	1	0	0.00116845	0.001168	0.00233689	6	56				
ARFGEF1	10565	broad.mit.edu	37	8	68178397	68178397	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr8:68178397G>C	ENST00000262215.3	-	14	2356	c.1967C>G	c.(1966-1968)cCt>cGt	p.P656R	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.P110R	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	656					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)	p.P656H(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TATTGTCTCAGGGTGTTTGAT	0.373																																						ENST00000262215.3																			1	Substitution - Missense(1)	p.P656H(1)	endometrium(1)	breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(1966-1968)cCt>cGt		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							133.0	123.0	127.0					8																	68178397		2202	4300	6502	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68178397G>C	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.1967C>G	8.37:g.68178397G>C	ENSP00000262215:p.Pro656Arg					ARFGEF1_ENST00000520381.1_Missense_Mutation_p.P110R	p.P656R	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		14	2356	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	656					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.1967C>G	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.501326	0.44455	.	.	ENSG00000066777	ENST00000520381;ENST00000262215	T;T	0.20200	2.96;2.09	5.83	5.83	0.93111	Armadillo-type fold (1);	0.106577	0.64402	D	0.000003	T	0.16981	0.0408	N	0.20766	0.605	0.80722	D	1	B;B	0.25850	0.136;0.0	B;B	0.26094	0.066;0.002	T	0.08953	-1.0697	10	0.18710	T	0.47	.	20.1099	0.97909	0.0:0.0:1.0:0.0	.	656;110	Q9Y6D6;E5RIF2	BIG1_HUMAN;.	R	110;656	ENSP00000428429:P110R;ENSP00000262215:P656R	ENSP00000262215:P656R	P	-	2	0	ARFGEF1	68340951	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.771000	0.98977	2.753000	0.94483	0.585000	0.79938	CCT		0.373	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		9	42	0	0	0	0.006214	0	9	42				
LASP1	3927	broad.mit.edu	37	17	37074903	37074903	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr17:37074903G>T	ENST00000318008.6	+	7	989	c.658G>T	c.(658-660)Gag>Tag	p.E220*	RP1-56K13.3_ENST00000580121.1_RNA|LASP1_ENST00000433206.2_Nonsense_Mutation_p.E164*|LASP1_ENST00000435347.3_Nonsense_Mutation_p.E220*	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN	LIM and SH3 protein 1	220	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.			E -> A (in Ref. 4; AAH12460). {ECO:0000305}.	ion transport (GO:0006811)|positive regulation of signal transduction (GO:0009967)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	ion transmembrane transporter activity (GO:0015075)|SH3/SH2 adaptor activity (GO:0005070)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						CGACGAGGACGAGGTCTCCTT	0.662			T	MLL	AML																																	ENST00000318008.6				Dom	yes		17	17q11-q21.3	3927	T	LIM and SH3 protein 1			L	MLL		AML		0				breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						c.(658-660)Gag>Tag		LIM and SH3 protein 1							117.0	102.0	107.0					17																	37074903		2203	4300	6503	SO:0001587	stop_gained	3927					cortical actin cytoskeleton	ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding	g.chr17:37074903G>T		CCDS11331.1, CCDS62164.1	17q11-q21.3	2008-07-18			ENSG00000002834	ENSG00000002834			6513	protein-coding gene	gene with protein product		602920				7490069	Standard	NM_006148		Approved	MLN50, Lasp-1	uc010cvq.3	Q14847	OTTHUMG00000133182	ENST00000318008.6:c.658G>T	17.37:g.37074903G>T	ENSP00000325240:p.Glu220*					LASP1_ENST00000435347.3_Nonsense_Mutation_p.E220*|LASP1_ENST00000433206.2_Nonsense_Mutation_p.E164*	p.E220*	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN			7	989	+			220	E -> A (in Ref. 2; AAH12460).		SH3.		B4DGQ0|Q96ED2|Q96IG0	Nonsense_Mutation	SNP	ENST00000318008.6	37	c.658G>T	CCDS11331.1	.	.	.	.	.	.	.	.	.	.	G	38	7.066394	0.98040	.	.	ENSG00000002834	ENST00000318008;ENST00000433206;ENST00000435347	.	.	.	5.39	5.39	0.77823	.	0.847374	0.10729	N	0.640835	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.7153	0.88335	0.0:0.0:1.0:0.0	.	.	.	.	X	220;164;220	.	ENSP00000325240:E220X	E	+	1	0	LASP1	34328429	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.779000	0.99018	2.540000	0.85666	0.462000	0.41574	GAG		0.662	LASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256890.3	NM_006148		5	135	1	0	0.00116845	0.001168	0.00233689	5	135				
FAM135B	51059	broad.mit.edu	37	8	139180230	139180230	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr8:139180230G>A	ENST00000395297.1	-	12	1336	c.1166C>T	c.(1165-1167)cCc>cTc	p.P389L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	389										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGGCAGCGGGGGCATGCTAGT	0.602										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(1165-1167)cCc>cTc		family with sequence similarity 135, member B							112.0	120.0	117.0					8																	139180230		2108	4227	6335	SO:0001583	missense	51059							g.chr8:139180230G>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1166C>T	8.37:g.139180230G>A	ENSP00000378710:p.Pro389Leu	HNSCC(54;0.14)					p.P389L	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		12	1336	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		389					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.1166C>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	24.5	4.543226	0.86022	.	.	ENSG00000147724	ENST00000395297	D	0.93547	-3.24	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.96978	0.9013	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97157	0.9835	10	0.87932	D	0	-22.3234	18.6786	0.91539	0.0:0.0:1.0:0.0	.	389	Q49AJ0	F135B_HUMAN	L	389	ENSP00000378710:P389L	ENSP00000276737:P389L	P	-	2	0	FAM135B	139249412	1.000000	0.71417	1.000000	0.80357	0.478000	0.33099	8.684000	0.91242	2.824000	0.97209	0.655000	0.94253	CCC		0.602	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		27	111	0	0	0	0.005443	0	27	111				
C16orf89	146556	broad.mit.edu	37	16	5094359	5094359	+	3'UTR	SNP	C	C	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr16:5094359C>T	ENST00000315997.5	-	0	1635				C16orf89_ENST00000350219.4_3'UTR|ALG1_ENST00000588623.1_Intron|RP11-165E7.1_ENST00000588778.1_RNA|C16orf89_ENST00000422873.1_Missense_Mutation_p.S397N|C16orf89_ENST00000472572.3_Missense_Mutation_p.S359N|C16orf89_ENST00000474471.3_3'UTR	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89							cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						TCAGCGGCTGCTTGGTGGTGG	0.602																																						ENST00000422873.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						c.(1189-1191)aGc>aAc		chromosome 16 open reading frame 89							61.0	71.0	68.0					16																	5094359		2089	4209	6298	SO:0001624	3_prime_UTR_variant	146556					extracellular region		g.chr16:5094359C>T		CCDS42116.1, CCDS45404.1, CCDS42116.2, CCDS45404.2	16p13.3	2011-12-12			ENSG00000153446	ENSG00000153446			28687	protein-coding gene	gene with protein product						12975309, 20578903	Standard	NM_001098514		Approved	MGC45438	uc010bud.3	Q6UX73	OTTHUMG00000159314	ENST00000315997.5:c.*225G>A	16.37:g.5094359C>T						ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000472572.3_Missense_Mutation_p.S359N|C16orf89_ENST00000315997.5_3'UTR|C16orf89_ENST00000350219.4_3'UTR|C16orf89_ENST00000474471.3_3'UTR	p.S397N	NM_001098514.2	NP_001091984.2	Q6UX73	CP089_HUMAN			8	1277	-			0					B4DUM5|Q8N2I3|Q8N4T1	Missense_Mutation	SNP	ENST00000315997.5	37	c.1190G>A	CCDS42116.2	.	.	.	.	.	.	.	.	.	.	C	8.512	0.866771	0.17250	.	.	ENSG00000153446	ENST00000472572;ENST00000422873	T;T	0.34472	1.46;1.36	4.0	-1.39	0.08997	.	.	.	.	.	T	0.12902	0.0313	N	0.04508	-0.205	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.33727	-0.9857	9	0.02654	T	1	.	8.0503	0.30575	0.0:0.6293:0.0:0.3707	.	397	G3V0F0	.	N	359;397	ENSP00000420566:S359N;ENSP00000390402:S397N	ENSP00000390402:S397N	S	-	2	0	C16orf89	5034360	0.000000	0.05858	0.000000	0.03702	0.129000	0.20672	-1.935000	0.01550	-0.484000	0.06763	0.448000	0.29417	AGC		0.602	C16orf89-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354524.1	NM_152459		9	111	0	0	0	0.004482	0	9	111				
RP11-156P1.3	0	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072		TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr17:45128671T>G	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							GCTCACAAAATAAGTTCCAGG	0.323																																						ENST00000575173.1																			0																																																			0							g.chr17:45128671T>G																													17.37:g.45128671T>G														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.323	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			3	88	0	0	0	0.004672	0	3	88				
RP11-423O2.5	0	broad.mit.edu	37	1	142803552	142803552	+	lincRNA	SNP	T	T	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr1:142803552T>A	ENST00000423385.1	-	0	1413																											TCCTGATGAATCTGCAGTCAG	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803552T>A																													1.37:g.142803552T>A														0	1413	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			4	136	0	0	0	0.009096	0	4	136				
CCSER1	401145	broad.mit.edu	37	4	91229733	91229733	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr4:91229733A>C	ENST00000509176.1	+	2	586	c.298A>C	c.(298-300)Atg>Ctg	p.M100L	CCSER1_ENST00000432775.2_Missense_Mutation_p.M100L|CCSER1_ENST00000333691.8_Missense_Mutation_p.M100L	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	100																	TCACAGCAATATGCAGAAACT	0.408																																						ENST00000509176.1																			0											c.(298-300)Atg>Ctg		coiled-coil serine-rich protein 1							107.0	99.0	102.0					4																	91229733		1877	4112	5989	SO:0001583	missense	401145							g.chr4:91229733A>C		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.298A>C	4.37:g.91229733A>C	ENSP00000425040:p.Met100Leu					CCSER1_ENST00000333691.8_Missense_Mutation_p.M100L|CCSER1_ENST00000432775.2_Missense_Mutation_p.M100L	p.M100L	NM_001145065.1	NP_001138537.1					2	586	+								Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	c.298A>C	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	A	5.629	0.300712	0.10678	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.39787	1.61;1.06;1.61	5.18	-0.519	0.11939	.	0.894192	0.10087	N	0.717668	T	0.21427	0.0516	N	0.25647	0.755	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.29212	-1.0019	10	0.06757	T	0.87	-2.0694	4.2399	0.10643	0.3561:0.0:0.1718:0.4721	.	100;100;100	Q9C0I3-2;Q9C0I3;E7EUW0	.;F190A_HUMAN;.	L	100	ENSP00000425040:M100L;ENSP00000389283:M100L;ENSP00000329482:M100L	ENSP00000329482:M100L	M	+	1	0	FAM190A	91448756	0.998000	0.40836	0.100000	0.21137	0.994000	0.84299	1.369000	0.34227	0.121000	0.18284	0.533000	0.62120	ATG		0.408	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		5	85	0	0	0	0.001168	0	5	85				
COL22A1	169044	broad.mit.edu	37	8	139890294	139890294	+	Silent	SNP	G	G	A	rs371320801		TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr8:139890294G>A	ENST00000303045.6	-	3	803	c.357C>T	c.(355-357)gaC>gaT	p.D119D	COL22A1_ENST00000435777.1_Silent_p.D119D	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	119	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGCGGAGCGCGTCTCCCGTGT	0.706										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(355-357)gaC>gaT		collagen, type XXII, alpha 1		G		0,4364		0,0,2182	20.0	22.0	21.0		357	-1.4	1.0	8		21	1,8505		0,1,4252	no	coding-synonymous	COL22A1	NM_152888.1		0,1,6434	AA,AG,GG		0.0118,0.0,0.0078		119/1627	139890294	1,12869	2182	4253	6435	SO:0001819	synonymous_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139890294G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.357C>T	8.37:g.139890294G>A		HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Silent_p.D119D	p.D119D	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		3	803	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		119			VWFA.		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	c.357C>T	CCDS6376.1																																																																																				0.706	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		4	17	0	0	0	0.009096	0	4	17				
MAGEL2	54551	broad.mit.edu	37	15	23890498	23890498	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr15:23890498G>A	ENST00000532292.1	-	1	677	c.583C>T	c.(583-585)Cct>Tct	p.P195S		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	78					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AGAGAGGCAGGCTGAAACTGG	0.582																																						ENST00000532292.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(583-585)Cct>Tct		MAGE-like 2							68.0	74.0	72.0					15																	23890498		2023	4192	6215	SO:0001583	missense	54551							g.chr15:23890498G>A	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.583C>T	15.37:g.23890498G>A	ENSP00000433433:p.Pro195Ser						p.P195S	NM_019066.4	NP_061939.3				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	677	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Missense_Mutation	SNP	ENST00000532292.1	37	c.583C>T																																																																																					0.582	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		8	89	0	0	0	0.004482	0	8	89				
CAMK4	814	broad.mit.edu	37	5	110710553	110710554	+	Frame_Shift_Ins	INS	-	-	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr5:110710553_110710554insA	ENST00000282356.4	+	3	644_645	c.246_247insA	c.(247-249)aaafs	p.K83fs	CAMK4_ENST00000512453.1_Frame_Shift_Ins_p.K83fs	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	83	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TTTAGGTGGACAAAAAAATCGT	0.376																																						ENST00000282356.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30						c.(244-249)gaaaaafs		calcium/calmodulin-dependent protein kinase IV																																				SO:0001589	frameshift_variant	814				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:110710553_110710554insA	D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"""brain Ca++-calmodulin-dependent protein kinase type IV"", ""calcium/calmodulin-dependent protein kinase type IV catalytic chain"", ""CAM kinase IV"", ""CAM kinase- GR"""	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.253dupA	5.37:g.110710560_110710560dupA	ENSP00000282356:p.Lys83fs					CAMK4_ENST00000512453.1_Frame_Shift_Ins_p.EK82fs	p.EK82fs	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)	3	644_645	+		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)	82			Protein kinase.		D3DSZ7	Frame_Shift_Ins	INS	ENST00000282356.4	37	c.246_247insA	CCDS4103.1																																																																																				0.376	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744		15	51						15	51	---	---	---	---
CAMK4	814	broad.mit.edu	37	5	110710553	110710554	+	Frame_Shift_Ins	INS	-	-	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr5:110710553_110710554insA	ENST00000282356.4	+	3	644_645	c.246_247insA	c.(247-249)aaafs	p.K83fs	CAMK4_ENST00000512453.1_Frame_Shift_Ins_p.K83fs	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	83	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TTTAGGTGGACAAAAAAATCGT	0.376																																						ENST00000282356.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30						c.(244-249)gaaaaafs		calcium/calmodulin-dependent protein kinase IV																																				SO:0001589	frameshift_variant	814				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:110710553_110710554insA	D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"""brain Ca++-calmodulin-dependent protein kinase type IV"", ""calcium/calmodulin-dependent protein kinase type IV catalytic chain"", ""CAM kinase IV"", ""CAM kinase- GR"""	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.253dupA	5.37:g.110710560_110710560dupA	ENSP00000282356:p.Lys83fs					CAMK4_ENST00000512453.1_Frame_Shift_Ins_p.EK82fs	p.EK82fs	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)	3	644_645	+		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)	82			Protein kinase.		D3DSZ7	Frame_Shift_Ins	INS	ENST00000282356.4	37	c.246_247insA	CCDS4103.1																																																																																				0.376	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744		15	51						15	51	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11085863	11085864	+	RNA	INS	-	-	C			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr21:11085863_11085864insC	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		catcaccaccaccaccatcacc	0.579																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11085863_11085864insC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11085865_11085865dupC												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.579	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	6						4	6	---	---	---	---
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			4	4						4	4	---	---	---	---
