#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
GUSB	2990	broad.mit.edu	37	7	65426002	65426002	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr7:65426002C>G	ENST00000304895.4	-	12	1968	c.1838G>C	c.(1837-1839)aGa>aCa	p.R613T	GUSB_ENST00000421103.1_Missense_Mutation_p.R467T|GUSB_ENST00000345660.6_Missense_Mutation_p.R562T	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	613					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						TTTTGGTTGTCTCTGCCGAGT	0.448																																						ENST00000304895.4																			0				breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						c.(1837-1839)aGa>aCa		glucuronidase, beta							241.0	230.0	234.0					7																	65426002		2203	4300	6503	SO:0001583	missense	2990				glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding	g.chr7:65426002C>G	M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.1838G>C	7.37:g.65426002C>G	ENSP00000302728:p.Arg613Thr					GUSB_ENST00000345660.6_Missense_Mutation_p.R562T|GUSB_ENST00000421103.1_Missense_Mutation_p.R467T	p.R613T	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN			12	1968	-			613					B4E1F6|E9PCV0|Q549U0|Q96CL9	Missense_Mutation	SNP	ENST00000304895.4	37	c.1838G>C	CCDS5530.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605979	0.87157	.	.	ENSG00000169919	ENST00000304895;ENST00000421103;ENST00000345660	D;D;D	0.97114	-4.25;-4.25;-4.25	5.77	5.77	0.91146	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 2, TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.99099	0.9690	H	0.97186	3.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99211	1.0876	10	0.87932	D	0	.	18.9768	0.92740	0.0:1.0:0.0:0.0	.	467;613	E9PCV0;P08236	.;BGLR_HUMAN	T	613;467;562	ENSP00000302728:R613T;ENSP00000391390:R467T;ENSP00000340734:R562T	ENSP00000302728:R613T	R	-	2	0	GUSB	65063437	1.000000	0.71417	0.993000	0.49108	0.768000	0.43524	7.807000	0.86032	2.735000	0.93741	0.655000	0.94253	AGA		0.448	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251637.3	NM_000181		27	198	0	0	0	1	0	27	198				
BARD1	580	broad.mit.edu	37	2	215617235	215617235	+	Missense_Mutation	SNP	C	C	A	rs370771157		TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr2:215617235C>A	ENST00000260947.4	-	7	1747	c.1613G>T	c.(1612-1614)aGt>aTt	p.S538I	BARD1_ENST00000449967.2_Missense_Mutation_p.S394I	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	538					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CGATTTCATACTTTCATCATC	0.373									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000260947.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(1612-1614)aGt>aTt		BRCA1 associated RING domain 1							121.0	115.0	117.0					2																	215617235		2203	4300	6503	SO:0001583	missense	580	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215617235C>A		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.1613G>T	2.37:g.215617235C>A	ENSP00000260947:p.Ser538Ile					BARD1_ENST00000449967.2_Missense_Mutation_p.S394I	p.S538I	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	7	1747	-		Renal(323;0.0243)	538					F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	37	c.1613G>T	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	C	3.430	-0.116383	0.06881	.	.	ENSG00000138376	ENST00000260947;ENST00000449967;ENST00000421162	T;T;D	0.85556	-0.77;-0.12;-2.0	4.64	0.734	0.18294	Ankyrin repeat-containing domain (1);	0.483859	0.22269	N	0.062285	T	0.67692	0.2920	N	0.08118	0	0.09310	N	1	B;B	0.18013	0.01;0.025	B;B	0.21151	0.033;0.001	T	0.58819	-0.7569	10	0.46703	T	0.11	-8.5167	8.1596	0.31190	0.0:0.0752:0.2651:0.6596	.	394;538	E7EUI3;Q99728	.;BARD1_HUMAN	I	538;394;87	ENSP00000260947:S538I;ENSP00000406752:S394I;ENSP00000392245:S87I	ENSP00000260947:S538I	S	-	2	0	BARD1	215325480	0.993000	0.37304	0.385000	0.26158	0.023000	0.10783	1.918000	0.40006	0.288000	0.22398	-0.501000	0.04562	AGT		0.373	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		7	74	1	0	1.12685e-05	1	1.22545e-05	7	74				
FGD6	55785	broad.mit.edu	37	12	95604446	95604446	+	Missense_Mutation	SNP	C	C	A	rs146520684		TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr12:95604446C>A	ENST00000343958.4	-	2	837	c.614G>T	c.(613-615)aGc>aTc	p.S205I	FGD6_ENST00000546711.1_Missense_Mutation_p.S205I|FGD6_ENST00000549499.1_Missense_Mutation_p.S205I|FGD6_ENST00000550368.1_5'Flank	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	205					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CATTTCTGGGCTGTCTGTGGG	0.418																																						ENST00000343958.4																			0				breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(613-615)aGc>aTc		FYVE, RhoGEF and PH domain containing 6							102.0	96.0	98.0					12																	95604446		2203	4300	6503	SO:0001583	missense	55785				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:95604446C>A	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.614G>T	12.37:g.95604446C>A	ENSP00000344446:p.Ser205Ile					FGD6_ENST00000549499.1_Missense_Mutation_p.S205I|FGD6_ENST00000546711.1_Missense_Mutation_p.S205I	p.S205I	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN			2	837	-			205					Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	c.614G>T	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	C	2.722	-0.266373	0.05754	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.68025	-0.2;-0.3;-0.22	5.99	-5.2	0.02823	.	0.931910	0.09038	N	0.857753	T	0.54143	0.1840	L	0.50333	1.59	0.09310	N	1	P	0.34780	0.468	B	0.30646	0.118	T	0.51553	-0.8691	10	0.62326	D	0.03	-0.9651	10.4948	0.44770	0.0:0.5039:0.1027:0.3934	.	205	Q6ZV73	FGD6_HUMAN	I	205	ENSP00000344446:S205I;ENSP00000450342:S205I;ENSP00000449005:S205I	ENSP00000344446:S205I	S	-	2	0	FGD6	94128577	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.293000	0.02770	-0.715000	0.04968	-1.267000	0.01435	AGC		0.418	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		7	85	1	0	2.7689e-08	1	3.16966e-08	7	85				
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	lincRNA	SNP	C	C	G	rs199933143		TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284																																						ENST00000369381.2																			0																																																			101927209							g.chr1:142713773C>G																													1.37:g.142713773C>G														0	832	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			3	64	0	0	0	1	0	3	64				
KCNH7	90134	broad.mit.edu	37	2	163360993	163360993	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr2:163360993A>G	ENST00000332142.5	-	6	1187	c.1088T>C	c.(1087-1089)gTt>gCt	p.V363A	KCNH7_ENST00000328032.4_Missense_Mutation_p.V356A|KCNH7_ENST00000477019.1_5'UTR	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	363					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TCGATCTTTAACCTTGGGTGC	0.373																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(1087-1089)gTt>gCt		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						191.0	187.0	188.0					2																	163360993		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163360993A>G	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1088T>C	2.37:g.163360993A>G	ENSP00000331727:p.Val363Ala					KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.V356A	p.V363A	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			6	1187	-			363					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.1088T>C	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	A	18.12	3.552911	0.65425	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.96073	-3.9;-3.9	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.93015	0.7777	L	0.49350	1.555	0.80722	D	1	B;P	0.37824	0.165;0.609	B;B	0.37780	0.09;0.258	D	0.91708	0.5379	10	0.16420	T	0.52	.	15.9153	0.79512	1.0:0.0:0.0:0.0	.	356;363	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	A	363;356	ENSP00000331727:V363A;ENSP00000333781:V356A	ENSP00000333781:V356A	V	-	2	0	KCNH7	163069239	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.261000	0.95576	2.213000	0.71641	0.477000	0.44152	GTT		0.373	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		17	130	0	0	0	1	0	17	130				
TRPV2	51393	broad.mit.edu	37	17	16336965	16336965	+	Silent	SNP	C	C	T	rs574911734	byFrequency	TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr17:16336965C>T	ENST00000338560.7	+	13	2466	c.2067C>T	c.(2065-2067)acC>acT	p.T689T	TRPV2_ENST00000577397.1_Silent_p.T259T	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	689					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TGATGCTGACCGTTGGCACTA	0.587													C|||	2	0.000399361	0.0	0.0	5008	,	,		20887	0.002		0.0	False		,,,				2504	0.0					ENST00000338560.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(2065-2067)acC>acT		transient receptor potential cation channel, subfamily V, member 2							144.0	124.0	131.0					17																	16336965		2203	4300	6503	SO:0001819	synonymous_variant	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16336965C>T	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.2067C>T	17.37:g.16336965C>T						TRPV2_ENST00000577397.1_Silent_p.T259T	p.T689T	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	13	2466	+			689					A6NML2|A8K0Z0|Q9Y670	Silent	SNP	ENST00000338560.7	37	c.2067C>T	CCDS32576.1																																																																																				0.587	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		32	90	0	0	0	1	0	32	90				
CCDC84	338657	broad.mit.edu	37	11	118881943	118881943	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr11:118881943A>G	ENST00000334418.1	+	5	519	c.463A>G	c.(463-465)Atc>Gtc	p.I155V	CCDC84_ENST00000580556.1_3'UTR	NM_198489.1	NP_940891.1	Q86UT8	CCD84_HUMAN	coiled-coil domain containing 84	155										breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		GGCAGCTCAGATCCGTGAGGT	0.562																																						ENST00000334418.1																			0				breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5						c.(463-465)Atc>Gtc		coiled-coil domain containing 84							122.0	97.0	105.0					11																	118881943		2200	4295	6495	SO:0001583	missense	338657							g.chr11:118881943A>G	AB094093	CCDS8405.1	11q23.3	2006-03-13			ENSG00000186166	ENSG00000186166			30460	protein-coding gene	gene with protein product							Standard	NM_198489		Approved	DLNB14	uc001pul.3	Q86UT8	OTTHUMG00000166348	ENST00000334418.1:c.463A>G	11.37:g.118881943A>G	ENSP00000334767:p.Ile155Val					CCDC84_ENST00000580556.1_3'UTR	p.I155V	NM_198489.1	NP_940891.1	Q86UT8	CCD84_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)	5	519	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)	155						Missense_Mutation	SNP	ENST00000334418.1	37	c.463A>G	CCDS8405.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.252923	0.80135	.	.	ENSG00000186166	ENST00000334418	T	0.46063	0.88	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.61702	0.2368	M	0.61703	1.905	0.43399	D	0.995529	D	0.62365	0.991	D	0.72625	0.978	T	0.65121	-0.6245	10	0.87932	D	0	-17.5893	15.0704	0.72030	1.0:0.0:0.0:0.0	.	155	Q86UT8	CCD84_HUMAN	V	155	ENSP00000334767:I155V	ENSP00000334767:I155V	I	+	1	0	CCDC84	118387153	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.380000	0.79704	2.225000	0.72522	0.460000	0.39030	ATC		0.562	CCDC84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389315.1	NM_198489		7	52	0	0	0	1	0	7	52				
TXNDC9	10190	broad.mit.edu	37	2	99944026	99944026	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr2:99944026A>T	ENST00000264255.3	-	3	535	c.280T>A	c.(280-282)Tgc>Agc	p.C94S	TXNDC9_ENST00000434323.1_Missense_Mutation_p.C94S|TXNDC9_ENST00000409434.1_Missense_Mutation_p.C94S	NM_005783.3	NP_005774.2	O14530	TXND9_HUMAN	thioredoxin domain containing 9	94	Thioredoxin.				cell redox homeostasis (GO:0045454)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)				lung(1)	1						TAGAAATGGCAAACCACATTT	0.378																																						ENST00000264255.3																			0				lung(1)	1						c.(280-282)Tgc>Agc		thioredoxin domain containing 9							151.0	137.0	142.0					2																	99944026		2203	4300	6503	SO:0001583	missense	10190				cell redox homeostasis		protein binding	g.chr2:99944026A>T	BC005968	CCDS2044.1	2q11.2	2008-02-05			ENSG00000115514	ENSG00000115514			24110	protein-coding gene	gene with protein product		612564				12477932	Standard	NM_005783		Approved	APACD	uc002szz.3	O14530	OTTHUMG00000130641	ENST00000264255.3:c.280T>A	2.37:g.99944026A>T	ENSP00000264255:p.Cys94Ser					TXNDC9_ENST00000409434.1_Missense_Mutation_p.C94S	p.C94S	NM_005783.3	NP_005774.2	O14530	TXND9_HUMAN			3	535	-			94			Thioredoxin.		B2R9G8|D3DVI4|Q53HG4|Q53RV8|Q6NSF5|Q8TB70|Q9BRU6	Missense_Mutation	SNP	ENST00000264255.3	37	c.280T>A	CCDS2044.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.713980	0.89112	.	.	ENSG00000115514	ENST00000540776;ENST00000264255;ENST00000409434;ENST00000409705	T;T;T	0.14022	2.54;2.54;2.54	5.38	5.38	0.77491	Thioredoxin domain (1);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.48390	0.1497	M	0.94021	3.485	0.80722	D	1	D;D	0.71674	0.992;0.998	D;D	0.72338	0.944;0.977	T	0.62918	-0.6752	9	.	.	.	-8.6979	15.682	0.77376	1.0:0.0:0.0:0.0	.	111;94	B7Z7A4;O14530	.;TXND9_HUMAN	S	111;94;94;94	ENSP00000264255:C94S;ENSP00000387275:C94S;ENSP00000386889:C94S	.	C	-	1	0	TXNDC9	99310458	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.890000	0.92477	2.167000	0.68274	0.374000	0.22700	TGC		0.378	TXNDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253129.1	NM_005783		5	41	0	0	0	1	0	5	41				
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)cGt>cAt	Other conserved DNA damage response genes	tumor protein p53							67.0	58.0	61.0					17																	7577120		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577120C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H	p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	950	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.818G>A	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		8	16	0	0	0	1	0	8	16				
PTPRE	5791	broad.mit.edu	37	10	129877893	129877893	+	Silent	SNP	A	A	C	rs17854594		TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr10:129877893A>C	ENST00000254667.3	+	20	2241	c.1962A>C	c.(1960-1962)ggA>ggC	p.G654G	PTPRE_ENST00000306042.5_Silent_p.G596G|PTPRE_ENST00000419012.2_Silent_p.G654G	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	654	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	AAGCCGAGGGACTTTTAGATG	0.448																																					Colon(52;977 1184 20575 41685)	ENST00000254667.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(1960-1962)ggA>ggC		protein tyrosine phosphatase, receptor type, E							104.0	102.0	102.0					10																	129877893		2203	4300	6503	SO:0001819	synonymous_variant	5791				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr10:129877893A>C	AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.1962A>C	10.37:g.129877893A>C						PTPRE_ENST00000419012.2_Silent_p.G654G|PTPRE_ENST00000306042.5_Silent_p.G596G	p.G654G	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN			20	2241	+		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)	654			Tyrosine-protein phosphatase 2.		Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Silent	SNP	ENST00000254667.3	37	c.1962A>C	CCDS7657.1																																																																																				0.448	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			5	46	0	0	0	1	0	5	46				
OR10K2	391107	broad.mit.edu	37	1	158389942	158389942	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr1:158389942A>G	ENST00000314902.2	-	1	714	c.715T>C	c.(715-717)Tct>Cct	p.S239P		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					ACACAGGTAGAAAAAGCTTTG	0.473																																						ENST00000314902.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(715-717)Tct>Cct		olfactory receptor, family 10, subfamily K, member 2							136.0	134.0	135.0					1																	158389942		2203	4300	6503	SO:0001583	missense	391107				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158389942A>G	AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"""GPCR / Class A : Olfactory receptors"""	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.715T>C	1.37:g.158389942A>G	ENSP00000324251:p.Ser239Pro						p.S239P	NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN			1	714	-	all_hematologic(112;0.0378)		239						Missense_Mutation	SNP	ENST00000314902.2	37	c.715T>C	CCDS30896.1	.	.	.	.	.	.	.	.	.	.	a	9.272	1.045931	0.19748	.	.	ENSG00000180708	ENST00000314902	T	0.00309	8.16	4.06	1.59	0.23543	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	D	0.000539	T	0.00384	0.0012	H	0.95470	3.675	0.09310	N	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.41858	-0.9485	10	0.87932	D	0	.	6.127	0.20184	0.7468:0.1625:0.0907:0.0	.	239	Q6IF99	O10K2_HUMAN	P	239	ENSP00000324251:S239P	ENSP00000324251:S239P	S	-	1	0	OR10K2	156656566	0.991000	0.36638	0.646000	0.29493	0.015000	0.08874	2.765000	0.47621	0.194000	0.20326	0.378000	0.23410	TCT		0.473	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051854.1	NM_001004476		6	85	0	0	0	1	0	6	85				
MMP15	4324	broad.mit.edu	37	16	58071493	58071493	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr16:58071493G>C	ENST00000219271.3	+	2	1065	c.280G>C	c.(280-282)Gtc>Ctc	p.V94L		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	94					cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	CGGGATCCCAGTCACCGGTGT	0.627																																						ENST00000219271.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(280-282)Gtc>Ctc		matrix metallopeptidase 15 (membrane-inserted)							80.0	70.0	73.0					16																	58071493		2198	4300	6498	SO:0001583	missense	4324				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:58071493G>C	Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"""matrix metalloproteinase 15 (membrane-inserted)"""			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.280G>C	16.37:g.58071493G>C	ENSP00000219271:p.Val94Leu						p.V94L	NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN			2	1065	+			94					A0A2U6|Q14111	Missense_Mutation	SNP	ENST00000219271.3	37	c.280G>C	CCDS10792.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.764449	0.49574	.	.	ENSG00000102996	ENST00000219271	T	0.46819	0.86	4.05	3.08	0.35506	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.072732	0.53938	D	0.000046	T	0.53753	0.1816	M	0.84433	2.695	0.45239	D	0.998242	B	0.24920	0.114	B	0.31686	0.134	T	0.58896	-0.7555	10	0.59425	D	0.04	.	11.4102	0.49921	0.0933:0.0:0.9067:0.0	.	94	P51511	MMP15_HUMAN	L	94	ENSP00000219271:V94L	ENSP00000219271:V94L	V	+	1	0	MMP15	56628994	1.000000	0.71417	0.284000	0.24805	0.385000	0.30292	6.660000	0.74417	1.023000	0.39654	0.462000	0.41574	GTC		0.627	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257342.1	NM_002428		8	93	0	0	0	1	0	8	93				
FAM218A	152756	broad.mit.edu	37	4	165878636	165878636	+	Silent	SNP	A	A	G			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr4:165878636A>G	ENST00000513876.2	+	1	537	c.462A>G	c.(460-462)tcA>tcG	p.S154S	TRIM61_ENST00000329314.5_Intron	NM_153027.1	NP_694572.1	Q96MZ4	F218A_HUMAN	family with sequence similarity 218, member A	154																	CGCTGGGCTCACCTGTCCTAT	0.498																																						ENST00000513876.2																			0											c.(460-462)tcA>tcG		family with sequence similarity 218, member A							45.0	46.0	46.0					4																	165878636		2203	4300	6503	SO:0001819	synonymous_variant	152756							g.chr4:165878636A>G	AK056221	CCDS3807.1	4q32.3	2012-03-01	2012-03-01	2012-03-01	ENSG00000250486	ENSG00000250486			26466	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 39"""	C4orf39		12477932	Standard	NM_153027		Approved	FLJ31659	uc003iqx.1	Q96MZ4	OTTHUMG00000161252	ENST00000513876.2:c.462A>G	4.37:g.165878636A>G						TRIM61_ENST00000329314.5_Intron	p.S154S	NM_153027.1	NP_694572.1	Q96MZ4	CD039_HUMAN			1	537	+			154						Silent	SNP	ENST00000513876.2	37	c.462A>G	CCDS3807.1																																																																																				0.498	FAM218A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364308.1	NM_153027		7	39	0	0	0	1	0	7	39				
LRRC45	201255	broad.mit.edu	37	17	79985312	79985312	+	Silent	SNP	G	G	A			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr17:79985312G>A	ENST00000306688.3	+	7	1167	c.825G>A	c.(823-825)aaG>aaA	p.K275K		NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	275						centrosome (GO:0005813)				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			AGATGGCCAAGAGCAGCAGGT	0.617																																						ENST00000306688.3																			0				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(823-825)aaG>aaA		leucine rich repeat containing 45							66.0	73.0	70.0					17																	79985312		2203	4300	6503	SO:0001819	synonymous_variant	201255					centrosome		g.chr17:79985312G>A	BC014109	CCDS11797.1	17q25.3	2005-08-09				ENSG00000169683			28302	protein-coding gene	gene with protein product						12477932	Standard	NM_144999		Approved	MGC20806	uc002kde.3	Q96CN5		ENST00000306688.3:c.825G>A	17.37:g.79985312G>A							p.K275K	NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		7	1167	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		275						Silent	SNP	ENST00000306688.3	37	c.825G>A	CCDS11797.1																																																																																				0.617	LRRC45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442058.1	NM_144999		12	90	0	0	0	1	0	12	90				
CHRNG	1146	broad.mit.edu	37	2	233409224	233409224	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr2:233409224C>T	ENST00000389494.3	+	10	1204	c.1183C>T	c.(1183-1185)Cgc>Tgc	p.R395C	CHRNG_ENST00000389492.3_Missense_Mutation_p.R343C	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	395					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	CTGCCTGCCTCGCAGTGAACT	0.657																																						ENST00000389494.3																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22						c.(1183-1185)Cgc>Tgc		cholinergic receptor, nicotinic, gamma (muscle)							62.0	62.0	62.0					2																	233409224		2203	4300	6503	SO:0001583	missense	1146				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity	g.chr2:233409224C>T	X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1967	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, gamma (muscle)"""	100730	"""cholinergic receptor, nicotinic, gamma"""	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.1183C>T	2.37:g.233409224C>T	ENSP00000374145:p.Arg395Cys					CHRNG_ENST00000389492.3_Missense_Mutation_p.R343C	p.R395C	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	10	1204	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	395					B3KWM8|Q14DU4|Q53RG2	Missense_Mutation	SNP	ENST00000389494.3	37	c.1183C>T	CCDS33400.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.835814	0.50951	.	.	ENSG00000196811	ENST00000389494;ENST00000541596;ENST00000389492	D;D	0.85171	-1.95;-1.95	5.21	3.0	0.34707	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.36972	U	0.002312	D	0.84151	0.5409	M	0.70903	2.155	0.54753	D	0.999983	B;P	0.43973	0.228;0.823	B;B	0.44085	0.056;0.44	D	0.84395	0.0557	10	0.72032	D	0.01	.	9.254	0.37573	0.2578:0.6608:0.0:0.0814	.	343;395	Q14DU4;P07510	.;ACHG_HUMAN	C	395;395;343	ENSP00000374145:R395C;ENSP00000374143:R343C	ENSP00000374143:R343C	R	+	1	0	CHRNG	233117468	0.988000	0.35896	0.995000	0.50966	0.987000	0.75469	2.867000	0.48428	1.143000	0.42306	0.462000	0.41574	CGC		0.657	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330743.1	NM_005199		12	108	0	0	0	1	0	12	108				
TRIM38	10475	broad.mit.edu	37	6	25983471	25983471	+	Silent	SNP	C	C	T			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr6:25983471C>T	ENST00000357085.3	+	8	1430	c.954C>T	c.(952-954)taC>taT	p.Y318Y	TRIM38_ENST00000349458.3_Silent_p.Y318Y|U91328.21_ENST00000608931.1_RNA	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	318	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of defense response to virus (GO:0050687)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						CTCGTGGATACACCCAGGAGA	0.463																																						ENST00000357085.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						c.(952-954)taC>taT		tripartite motif containing 38							102.0	98.0	99.0					6																	25983471		2203	4300	6503	SO:0001819	synonymous_variant	10475				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding	g.chr6:25983471C>T	U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10059	protein-coding gene	gene with protein product			"""ring finger protein 15"", ""tripartite motif-containing 38"""	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.954C>T	6.37:g.25983471C>T						TRIM38_ENST00000349458.3_Silent_p.Y318Y	p.Y318Y	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN			8	1430	+			318			B30.2/SPRY.		B2R862	Silent	SNP	ENST00000357085.3	37	c.954C>T	CCDS4568.1																																																																																				0.463	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040076.2			9	54	0	0	0	1	0	9	54				
RECK	8434	broad.mit.edu	37	9	36058859	36058859	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr9:36058859T>G	ENST00000377966.3	+	3	761	c.195T>G	c.(193-195)caT>caG	p.H65Q	RECK_ENST00000479053.1_3'UTR	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	65	5 X Knot repeats.				blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GACTAAAACATCTGTTGCAGC	0.328																																						ENST00000377966.3																			0				cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32						c.(193-195)caT>caG		reversion-inducing-cysteine-rich protein with kazal motifs							74.0	77.0	76.0					9																	36058859		2203	4300	6503	SO:0001583	missense	8434					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	g.chr9:36058859T>G	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.195T>G	9.37:g.36058859T>G	ENSP00000367202:p.His65Gln					RECK_ENST00000479053.1_3'UTR	p.H65Q	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)		3	761	+			65			5 X Knot repeats.		B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	ENST00000377966.3	37	c.195T>G	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.534422	0.45073	.	.	ENSG00000122707	ENST00000377966	T	0.41065	1.01	5.75	3.1	0.35709	.	0.000000	0.85682	D	0.000000	T	0.40886	0.1135	N	0.14661	0.345	0.35723	D	0.817307	D;B;D	0.65815	0.995;0.399;0.96	D;B;D	0.72982	0.979;0.114;0.962	T	0.49634	-0.8919	10	0.46703	T	0.11	-17.531	6.9231	0.24399	0.0:0.2699:0.0:0.7301	.	65;65;65	B2RCE6;O95980;Q6P9E2	.;RECK_HUMAN;.	Q	65	ENSP00000367202:H65Q	ENSP00000367202:H65Q	H	+	3	2	RECK	36048859	0.884000	0.30299	1.000000	0.80357	0.978000	0.69477	-0.275000	0.08525	1.021000	0.39600	0.402000	0.26972	CAT		0.328	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			7	45	0	0	0	1	0	7	45				
PFKFB3	5209	broad.mit.edu	37	10	6265929	6265929	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr10:6265929C>T	ENST00000379775.4	+	12	1552	c.1222C>T	c.(1222-1224)Ccc>Tcc	p.P408S	PFKFB3_ENST00000360521.2_Missense_Mutation_p.P408S|PFKFB3_ENST00000317350.4_Missense_Mutation_p.P408S|PFKFB3_ENST00000379782.3_Missense_Mutation_p.P408S|PFKFB3_ENST00000379785.1_Missense_Mutation_p.P408S|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000540253.1_Missense_Mutation_p.P422S|PFKFB3_ENST00000379789.4_Missense_Mutation_p.P388S	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	408	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						AGAGGAGATGCCCTACCTGAA	0.562																																						ENST00000379775.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						c.(1222-1224)Ccc>Tcc		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3							163.0	146.0	152.0					10																	6265929		2203	4300	6503	SO:0001583	missense	5209				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chr10:6265929C>T		CCDS7078.1, CCDS44353.1, CCDS60479.1	10p15.1	2008-05-14			ENSG00000170525	ENSG00000170525			8874	protein-coding gene	gene with protein product		605319				9146922, 10072580	Standard	NM_004566		Approved		uc001ije.3	Q16875	OTTHUMG00000017621	ENST00000379775.4:c.1222C>T	10.37:g.6265929C>T	ENSP00000369100:p.Pro408Ser					PFKFB3_ENST00000360521.2_Missense_Mutation_p.P408S|PFKFB3_ENST00000540253.1_Missense_Mutation_p.P422S|PFKFB3_ENST00000317350.4_Missense_Mutation_p.P408S|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000379785.1_Missense_Mutation_p.P408S|PFKFB3_ENST00000379782.3_Missense_Mutation_p.P408S|PFKFB3_ENST00000379789.4_Missense_Mutation_p.P388S	p.P408S	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN			12	1552	+			408			Fructose-2,6-bisphosphatase.		B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Missense_Mutation	SNP	ENST00000379775.4	37	c.1222C>T	CCDS7078.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.6|21.6	4.173188|4.173188	0.78452|0.78452	.|.	.|.	ENSG00000170525|ENSG00000170525	ENST00000450232|ENST00000379789;ENST00000379784;ENST00000540253;ENST00000379781;ENST00000317350;ENST00000379785;ENST00000379782;ENST00000360521;ENST00000379775;ENST00000358499;ENST00000444592	.|.	.|.	.|.	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85004|0.85004	0.5598|0.5598	M|M	0.89095|0.89095	3.005|3.005	0.80722|0.80722	D|D	1|1	.|D;D;D;P	.|0.89917	.|0.992;0.992;1.0;0.921	.|P;P;D;B	.|0.77557	.|0.584;0.531;0.99;0.17	D|D	0.88172|0.88172	0.2865|0.2865	5|9	.|0.87932	.|D	.|0	-51.2692|-51.2692	18.5469|18.5469	0.91050|0.91050	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|422;408;408;388	.|B7Z955;Q16875-2;Q16875;Q5VX15	.|.;.;F263_HUMAN;.	V|S	88|388;134;422;2;408;408;408;408;408;408;2	.|.	.|ENSP00000369105:P408S	A|P	+|+	2|1	0|0	PFKFB3|PFKFB3	6305935|6305935	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	5.902000|5.902000	0.69869|0.69869	2.376000|2.376000	0.81061|0.81061	0.655000|0.655000	0.94253|0.94253	GCC|CCC		0.562	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046647.1			4	164	0	0	0	1	0	4	164				
STAR	6770	broad.mit.edu	37	8	38006158	38006158	+	Splice_Site	SNP	C	C	T			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr8:38006158C>T	ENST00000276449.4	-	2	625		c.e2+1		RP11-90P5.2_ENST00000520598.1_RNA	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein						bile acid biosynthetic process (GO:0006699)|biphenyl metabolic process (GO:0018879)|brain development (GO:0007420)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth hormone stimulus (GO:0071378)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-alpha (GO:0035457)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to luteinizing hormone stimulus (GO:0071373)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cholesterol metabolic process (GO:0008203)|circadian sleep/wake cycle, REM sleep (GO:0042747)|dibenzo-p-dioxin metabolic process (GO:0018894)|diterpenoid metabolic process (GO:0016101)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|glucocorticoid metabolic process (GO:0008211)|insecticide metabolic process (GO:0017143)|intracellular cholesterol transport (GO:0032367)|male gonad development (GO:0008584)|negative regulation of neuron apoptotic process (GO:0043524)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of gene expression (GO:0010628)|positive regulation of neurogenesis (GO:0050769)|progesterone biosynthetic process (GO:0006701)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of steroid biosynthetic process (GO:0050810)|response to activity (GO:0014823)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to hydrogen peroxide (GO:0042542)|response to ionizing radiation (GO:0010212)|response to lead ion (GO:0010288)|response to leptin (GO:0044321)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytosol (GO:0005829)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	cholesterol binding (GO:0015485)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		TCAGCACTTACCGAGTAGAGA	0.637																																						ENST00000276449.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						c.e2+1		steroidogenic acute regulatory protein							41.0	43.0	42.0					8																	38006158		2203	4300	6503	SO:0001630	splice_region_variant	6770				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity	g.chr8:38006158C>T	BC010550	CCDS6102.1	8p11.2	2011-09-13	2007-05-15		ENSG00000147465	ENSG00000147465		"""StAR-related lipid transfer (START) domain containing"""	11359	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 1"""	600617	"""steroidogenic acute regulator"""			7761400	Standard	NM_000349		Approved	StAR, STARD1	uc003xkv.1	P49675	OTTHUMG00000164058	ENST00000276449.4:c.178+1G>A	8.37:g.38006158C>T								NM_000349.2	NP_000340.2	P49675	STAR_HUMAN		READ - Rectum adenocarcinoma(644;0.188)	2	625	-	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)						Q16396	Splice_Site	SNP	ENST00000276449.4	37		CCDS6102.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414462	0.62511	.	.	ENSG00000147465	ENST00000276449;ENST00000522050	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5117	0.95144	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	STAR	38125315	1.000000	0.71417	0.998000	0.56505	0.488000	0.33401	7.015000	0.76387	2.687000	0.91594	0.462000	0.41574	.		0.637	STAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376990.2	NM_000349	Intron	8	52	0	0	0	1	0	8	52				
DHX33	56919	broad.mit.edu	37	17	5347733	5347733	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr17:5347733C>G	ENST00000225296.3	-	12	2116	c.1916G>C	c.(1915-1917)gGc>gCc	p.G639A	DHX33_ENST00000433302.3_Missense_Mutation_p.G415A	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	639					positive regulation of transcription from RNA polymerase I promoter (GO:0045943)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|rDNA binding (GO:0000182)			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GGCATAGGTGCCATCTGGCTG	0.622																																						ENST00000225296.3																			0				breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1915-1917)gGc>gCc		DEAH (Asp-Glu-Ala-His) box polypeptide 33							102.0	88.0	93.0					17																	5347733		2203	4300	6503	SO:0001583	missense	56919					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr17:5347733C>G	AL359945	CCDS11072.1	17p13	2003-06-13	2003-06-13	2003-06-13	ENSG00000005100	ENSG00000005100		"""DEAH-boxes"""	16718	protein-coding gene	gene with protein product		614405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33"""	DDX33			Standard	NM_020162		Approved	FLJ21972, DKFZp762F2011	uc002gca.3	Q9H6R0	OTTHUMG00000102041	ENST00000225296.3:c.1916G>C	17.37:g.5347733C>G	ENSP00000225296:p.Gly639Ala					DHX33_ENST00000433302.3_Missense_Mutation_p.G415A	p.G639A	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN			12	2116	-			639					B4DHF9|Q4G149|Q5CZ73|Q9H5M9	Missense_Mutation	SNP	ENST00000225296.3	37	c.1916G>C	CCDS11072.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275204	0.80580	.	.	ENSG00000005100	ENST00000225296;ENST00000433302	T;T	0.14391	3.88;2.51	4.45	4.45	0.53987	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.42675	0.1213	M	0.86097	2.795	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.97110	1.0;0.973	T	0.49263	-0.8958	10	0.66056	D	0.02	.	16.5971	0.84799	0.0:1.0:0.0:0.0	.	415;639	Q05BE5;Q9H6R0	.;DHX33_HUMAN	A	639;415	ENSP00000225296:G639A;ENSP00000413779:G415A	ENSP00000225296:G639A	G	-	2	0	DHX33	5288457	1.000000	0.71417	0.134000	0.22075	0.882000	0.50991	7.199000	0.77831	2.467000	0.83353	0.561000	0.74099	GGC		0.622	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219826.2	NM_020162		10	60	0	0	0	1	0	10	60				
CNTRL	11064	broad.mit.edu	37	9	123914807	123914807	+	Silent	SNP	A	A	G			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr9:123914807A>G	ENST00000373855.1	+	26	4268	c.4008A>G	c.(4006-4008)aaA>aaG	p.K1336K	CNTRL_ENST00000373850.1_Silent_p.K784K|CNTRL_ENST00000373847.1_Silent_p.K784K|CNTRL_ENST00000238341.5_Silent_p.K1336K|CNTRL_ENST00000373845.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	1336					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AGCATTTAAAATCAAAGAAGC	0.398																																						ENST00000373855.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(4006-4008)aaA>aaG		centriolin							95.0	100.0	98.0					9																	123914807		2203	4300	6503	SO:0001819	synonymous_variant	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123914807A>G	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.4008A>G	9.37:g.123914807A>G						CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373850.1_Silent_p.K784K|CNTRL_ENST00000373847.1_Silent_p.K784K|CNTRL_ENST00000238341.5_Silent_p.K1336K	p.K1336K			Q7Z7A1	CNTRL_HUMAN			26	4268	+			1336					A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Silent	SNP	ENST00000373855.1	37	c.4008A>G	CCDS35118.1																																																																																				0.398	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		7	105	0	0	0	1	0	7	105				
OLFM2	93145	broad.mit.edu	37	19	9965152	9965152	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr19:9965152G>A	ENST00000264833.4	-	6	1260	c.1075C>T	c.(1075-1077)Cgg>Tgg	p.R359W	OLFM2_ENST00000590841.1_Missense_Mutation_p.R281W|AC008752.3_ENST00000582439.1_RNA	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	359	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TCCCAGGACCGCATGACCTCG	0.657																																						ENST00000264833.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						c.(1075-1077)Cgg>Tgg		olfactomedin 2							78.0	72.0	74.0					19																	9965152		2203	4300	6503	SO:0001583	missense	93145					extracellular region		g.chr19:9965152G>A	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"""noelin 2"""						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.1075C>T	19.37:g.9965152G>A	ENSP00000264833:p.Arg359Trp					OLFM2_ENST00000590841.1_Missense_Mutation_p.R281W	p.R359W	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN			6	1260	-			359			Olfactomedin-like.		Q6IMJ3|Q96FC2	Missense_Mutation	SNP	ENST00000264833.4	37	c.1075C>T	CCDS12221.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.904703	0.72868	.	.	ENSG00000105088	ENST00000264833	D	0.89343	-2.5	4.36	2.12	0.27331	Olfactomedin-like (3);	0.070231	0.64402	D	0.000018	D	0.89192	0.6645	L	0.46157	1.445	0.36614	D	0.875373	D	0.76494	0.999	P	0.58970	0.849	D	0.87952	0.2724	9	.	.	.	.	9.9887	0.41856	0.0:0.0:0.4414:0.5586	.	359	O95897	NOE2_HUMAN	W	359	ENSP00000264833:R359W	.	R	-	1	2	OLFM2	9826152	0.972000	0.33761	0.952000	0.39060	0.980000	0.70556	1.249000	0.32839	0.401000	0.25424	0.561000	0.74099	CGG		0.657	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1			4	116	0	0	0	1	0	4	116				
RUNX2	860	broad.mit.edu	37	6	45459744	45459744	+	Missense_Mutation	SNP	G	G	A	rs376891808		TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr6:45459744G>A	ENST00000371438.1	+	5	1110	c.752G>A	c.(751-753)cGc>cAc	p.R251H	RUNX2_ENST00000465038.2_Missense_Mutation_p.R251H|RUNX2_ENST00000576263.1_Missense_Mutation_p.R251H|RUNX2_ENST00000352853.5_Missense_Mutation_p.R319H|RUNX2_ENST00000371436.6_Missense_Mutation_p.R251H|RUNX2_ENST00000371432.3_Missense_Mutation_p.R237H|RUNX2_ENST00000359524.5_Missense_Mutation_p.R237H|RUNX2_ENST00000541979.1_Missense_Mutation_p.R319H	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	251	Pro/Ser/Thr-rich.|Required for interaction with FOXO1. {ECO:0000250}.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GATTTAGGGCGCATTCCTCAT	0.473																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(751-753)cGc>cAc		runt-related transcription factor 2		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	429.0	333.0	365.0		752,752,710	6.0	1.0	6		365	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	RUNX2	NM_001015051.3,NM_001024630.3,NM_004348.3	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	251/500,251/522,237/508	45459744	1,13005	2203	4300	6503	SO:0001583	missense	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45459744G>A	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.752G>A	6.37:g.45459744G>A	ENSP00000360493:p.Arg251His					RUNX2_ENST00000359524.5_Missense_Mutation_p.R237H|RUNX2_ENST00000576263.1_Missense_Mutation_p.R251H|RUNX2_ENST00000541979.1_Missense_Mutation_p.R319H|RUNX2_ENST00000371436.6_Missense_Mutation_p.R251H|RUNX2_ENST00000371432.3_Missense_Mutation_p.R237H|RUNX2_ENST00000465038.2_Missense_Mutation_p.R251H|RUNX2_ENST00000352853.5_Missense_Mutation_p.R319H	p.R251H	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			5	1110	+			251			Pro/Ser/Thr-rich.		O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	c.752G>A	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914917	0.92178	0.0	1.16E-4	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	D;D;D;D;D;D;D	0.97066	-4.22;-4.23;-4.23;-4.22;-4.22;-4.22;-4.22	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.97736	0.9257	L	0.49640	1.575	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.939	D;D;P	0.83275	0.996;0.978;0.572	D	0.96883	0.9647	10	0.41790	T	0.15	-8.9331	20.5666	0.99351	0.0:0.0:1.0:0.0	.	319;251;237	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	H	251;319;319;251;251;237;237	ENSP00000420707:R251H;ENSP00000319087:R319H;ENSP00000446290:R319H;ENSP00000360493:R251H;ENSP00000360491:R251H;ENSP00000352514:R237H;ENSP00000360486:R237H	ENSP00000319087:R319H	R	+	2	0	RUNX2	45567722	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.076000	0.94009	2.854000	0.98071	0.655000	0.94253	CGC		0.473	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		4	156	0	0	0	1	0	4	156				
RPS6KA1	6195	broad.mit.edu	37	1	26887589	26887589	+	Silent	SNP	G	G	T			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr1:26887589G>T	ENST00000374168.2	+	16	1549	c.1395G>T	c.(1393-1395)cgG>cgT	p.R465R	RPS6KA1_ENST00000526792.1_Silent_p.R373R|RPS6KA1_ENST00000531382.1_Silent_p.R474R|RPS6KA1_ENST00000374166.4_Silent_p.R454R|RPS6KA1_ENST00000530003.1_Silent_p.R449R|RPS6KA1_ENST00000374162.2_Silent_p.R373R	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	465	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		TTCTTCTGCGGTATGGCCAGC	0.527																																						ENST00000374168.2																			0				lung(1)	1						c.(1393-1395)cgG>cgT		ribosomal protein S6 kinase, 90kDa, polypeptide 1							77.0	77.0	77.0					1																	26887589		2203	4300	6503	SO:0001819	synonymous_variant	6195				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:26887589G>T	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1395G>T	1.37:g.26887589G>T						RPS6KA1_ENST00000374166.4_Silent_p.R454R|RPS6KA1_ENST00000526792.1_Silent_p.R373R|RPS6KA1_ENST00000374162.2_Silent_p.R373R|RPS6KA1_ENST00000531382.1_Silent_p.R474R|RPS6KA1_ENST00000530003.1_Silent_p.R449R	p.R465R	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	16	1549	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	465			Protein kinase 2.		A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Silent	SNP	ENST00000374168.2	37	c.1395G>T	CCDS284.1																																																																																				0.527	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		4	48	1	0	0.00909568	1	0.00942053	4	48				
FASN	2194	broad.mit.edu	37	17	80040889	80040889	+	Missense_Mutation	SNP	C	C	T	rs139792253		TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr17:80040889C>T	ENST00000306749.2	-	33	5886	c.5668G>A	c.(5668-5670)Gct>Act	p.A1890T	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1890	Beta-ketoacyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	AGACCACCAGCGATGATGTAG	0.632																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(5668-5670)Gct>Act		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	C	THR/ALA	1,4401	2.1+/-5.4	0,1,2200	93.0	82.0	86.0		5668	-4.2	0.0	17	dbSNP_134	86	1,8597	1.2+/-3.3	0,1,4298	no	missense	FASN	NM_004104.4	58	0,2,6498	TT,TC,CC		0.0116,0.0227,0.0154	benign	1890/2512	80040889	2,12998	2201	4299	6500	SO:0001583	missense	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80040889C>T	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.5668G>A	17.37:g.80040889C>T	ENSP00000304592:p.Ala1890Thr					FASN_ENST00000579758.1_5'UTR	p.A1890T	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		33	5886	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		1890			Beta-ketoacyl reductase (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	c.5668G>A	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	C	0.119	-1.128166	0.01770	2.27E-4	1.16E-4	ENSG00000169710	ENST00000306749	T	0.20069	2.1	4.62	-4.22	0.03800	Polyketide synthase/Fatty acid synthase, KR (1);NAD(P)-binding domain (1);	0.557201	0.18829	N	0.130039	T	0.04048	0.0113	N	0.00569	-1.365	0.26278	N	0.978325	B	0.02656	0.0	B	0.04013	0.001	T	0.35919	-0.9769	10	0.02654	T	1	-2.3156	13.0192	0.58775	0.0:0.1428:0.0:0.8572	.	1890	P49327	FAS_HUMAN	T	1890	ENSP00000304592:A1890T	ENSP00000304592:A1890T	A	-	1	0	FASN	77634178	0.999000	0.42202	0.000000	0.03702	0.002000	0.02628	0.528000	0.23002	-0.766000	0.04639	0.555000	0.69702	GCT		0.632	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		5	61	0	0	0	1	0	5	61				
MYZAP	100820829	broad.mit.edu	37	15	57913834	57913834	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr15:57913834A>T	ENST00000267853.5	+	4	441	c.347A>T	c.(346-348)aAg>aTg	p.K116M	GCOM1_ENST00000380560.2_Intron|GCOM1_ENST00000380561.2_Intron|GCOM1_ENST00000574161.1_Missense_Mutation_p.K116M|GCOM1_ENST00000572390.1_Missense_Mutation_p.K116M|GCOM1_ENST00000380569.2_Missense_Mutation_p.K116M|GCOM1_ENST00000380568.3_Missense_Mutation_p.K116M|POLR2M_ENST00000380563.2_Intron|MYZAP_ENST00000380565.4_Missense_Mutation_p.K116M|GCOM1_ENST00000587652.1_Missense_Mutation_p.K116M|GCOM1_ENST00000396180.1_Intron			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	116					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|I band (GO:0031674)											AAGGTGAGAAAGCGAATGTAT	0.403																																						ENST00000574161.1																			0				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						c.(346-348)aAg>aTg									141.0	133.0	135.0					15																	57913834		2192	4292	6484	SO:0001583	missense	145781				intracellular signal transduction	extrinsic to internal side of plasma membrane|I band		g.chr15:57913834A>T	FJ970029		15q21.3	2012-10-05			ENSG00000263155	ENSG00000263155			43444	protein-coding gene	gene with protein product	"""myocardium-enriched zonula adherens protein"""	614071				20093627, 21992629, 22160502	Standard	NM_001018100		Approved	MYOZAP, Gup, Gup1, GCOM1		P0CAP1	OTTHUMG00000132453	ENST00000267853.5:c.347A>T	15.37:g.57913834A>T	ENSP00000267853:p.Lys116Met					GCOM1_ENST00000380561.2_Intron|GCOM1_ENST00000380568.3_Missense_Mutation_p.K116M|GCOM1_ENST00000396180.1_Intron|MYZAP_ENST00000380565.4_Missense_Mutation_p.K116M|POLR2M_ENST00000380563.2_Intron|GCOM1_ENST00000587652.1_Missense_Mutation_p.K116M|GCOM1_ENST00000380560.2_Intron|GCOM1_ENST00000380569.2_Missense_Mutation_p.K116M|MYZAP_ENST00000267853.5_Missense_Mutation_p.K116M|GCOM1_ENST00000572390.1_Missense_Mutation_p.K116M	p.K116M	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN			4	466	+			116					D2E9U7|Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5	Missense_Mutation	SNP	ENST00000267853.5	37	c.347A>T	CCDS10162.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.316945	0.81469	.	.	ENSG00000137878	ENST00000380569;ENST00000267853;ENST00000380565;ENST00000380568	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.66	4.54	0.55810	.	0.104145	0.64402	D	0.000001	T	0.51466	0.1676	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.65815	0.988;0.988;0.995;0.989	P;P;P;P	0.58454	0.753;0.837;0.823;0.839	T	0.52109	-0.8619	10	0.62326	D	0.03	-32.8422	10.7514	0.46211	0.9244:0.0:0.0756:0.0	.	116;116;116;116	P0CAP1-2;P0CAP1-11;P0CAP1-4;P0CAP1	.;.;.;GCOM1_HUMAN	M	116	ENSP00000369943:K116M;ENSP00000267853:K116M;ENSP00000369939:K116M;ENSP00000369942:K116M	ENSP00000267853:K116M	K	+	2	0	GCOM1	55701126	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.347000	0.52200	1.091000	0.41335	0.523000	0.50628	AAG		0.403	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255716.2	NM_001018100		10	80	0	0	0	1	0	10	80				
FEZF1	389549	broad.mit.edu	37	7	121942264	121942264	+	Silent	SNP	G	G	A			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr7:121942264G>A	ENST00000442488.2	-	4	1282	c.1215C>T	c.(1213-1215)tgC>tgT	p.C405C	FEZF1_ENST00000427185.2_Silent_p.C355C|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Silent_p.C401C|FEZF1-AS1_ENST00000437317.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	405					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						AACCCTTGCCGCACGTGGGGC	0.572																																						ENST00000442488.2																			0				breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						c.(1213-1215)tgC>tgT		FEZ family zinc finger 1							174.0	145.0	155.0					7																	121942264		2203	4300	6503	SO:0001819	synonymous_variant	389549				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:121942264G>A	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.1215C>T	7.37:g.121942264G>A						FEZF1_ENST00000427185.2_Silent_p.C355C|FEZF1_ENST00000331178.4_Silent_p.C401C	p.C405C	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN			4	1282	-			405					A0PJY3|A4D0W3|B4DUP9|B7ZM98	Silent	SNP	ENST00000442488.2	37	c.1215C>T	CCDS34741.2																																																																																				0.572	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		4	123	0	0	0	1	0	4	123				
STRADB	55437	broad.mit.edu	37	2	202337801	202337801	+	Splice_Site	SNP	T	T	A			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr2:202337801T>A	ENST00000194530.3	+	5	680		c.e5+2		STRADB_ENST00000392249.2_Splice_Site	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta						activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cell morphogenesis (GO:0000902)|insulin receptor signaling pathway (GO:0008286)|JNK cascade (GO:0007254)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						GCTTTACAGGTAACAATATGA	0.368																																						ENST00000194530.3																			0				breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						c.e5+2		STE20-related kinase adaptor beta							68.0	67.0	68.0					2																	202337801		2203	4300	6503	SO:0001630	splice_region_variant	55437				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity	g.chr2:202337801T>A	AB038950	CCDS2348.1, CCDS56161.1	2q33.1	2010-09-30	2008-09-15	2008-09-15	ENSG00000082146	ENSG00000082146			13205	protein-coding gene	gene with protein product		607333	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2"""	ALS2CR2		11161814, 14511394	Standard	NM_018571		Approved	CALS-21, PAPK, ILPIPA, ILPIP	uc002uyd.4	Q9C0K7	OTTHUMG00000132831	ENST00000194530.3:c.315+2T>A	2.37:g.202337801T>A						STRADB_ENST00000392249.2_Splice_Site		NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN			5	680	+								Q5BKY7|Q9P1L0	Splice_Site	SNP	ENST00000194530.3	37		CCDS2348.1	.	.	.	.	.	.	.	.	.	.	T	17.79	3.475517	0.63737	.	.	ENSG00000082146	ENST00000458269;ENST00000194530;ENST00000539670;ENST00000392249	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.238	0.73447	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	STRADB	202046046	1.000000	0.71417	0.965000	0.40720	0.801000	0.45260	5.966000	0.70395	2.043000	0.60533	0.460000	0.39030	.		0.368	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256297.1	NM_018571	Intron	10	77	0	0	0	1	0	10	77				
C9orf84	158401	broad.mit.edu	37	9	114520394	114520394	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr9:114520394C>A	ENST00000318737.4	-	5	614	c.486G>T	c.(484-486)gaG>gaT	p.E162D	C9orf84_ENST00000374283.5_Missense_Mutation_p.E226D|C9orf84_ENST00000374287.3_Missense_Mutation_p.E162D|C9orf84_ENST00000394777.4_Missense_Mutation_p.E123D|C9orf84_ENST00000394779.3_Missense_Mutation_p.E123D	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	162										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTTCTAGTTTCTCTTGACAAA	0.269																																						ENST00000394779.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(367-369)gaG>gaT		chromosome 9 open reading frame 84							38.0	40.0	39.0					9																	114520394		2189	4275	6464	SO:0001583	missense	158401							g.chr9:114520394C>A	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.486G>T	9.37:g.114520394C>A	ENSP00000322108:p.Glu162Asp					C9orf84_ENST00000374283.5_Missense_Mutation_p.E226D|C9orf84_ENST00000374287.3_Missense_Mutation_p.E162D|C9orf84_ENST00000394777.4_Missense_Mutation_p.E123D|C9orf84_ENST00000318737.4_Missense_Mutation_p.E162D	p.E123D	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN			3	613	-			162					A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	c.369G>T	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	C	11.29	1.593736	0.28445	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000374287;ENST00000318737;ENST00000374283	T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73	5.1	0.541	0.17168	.	0.292405	0.24222	N	0.040431	T	0.32285	0.0824	L	0.29908	0.895	0.09310	N	1	B;B;P;P	0.46142	0.033;0.033;0.873;0.763	B;B;P;B	0.44811	0.04;0.04;0.461;0.288	T	0.14896	-1.0456	10	0.52906	T	0.07	2.2262	3.481	0.07602	0.0:0.4423:0.1953:0.3623	.	123;226;162;123	A6PVK7;Q5VXU9-2;Q5VXU9;A2A2V3	.;.;CI084_HUMAN;.	D	123;123;162;162;226	ENSP00000378259:E123D;ENSP00000378257:E123D;ENSP00000363405:E162D;ENSP00000322108:E162D;ENSP00000363401:E226D	ENSP00000322108:E162D	E	-	3	2	C9orf84	113560215	0.223000	0.23663	0.037000	0.18230	0.377000	0.30045	0.071000	0.14594	0.262000	0.21774	0.591000	0.81541	GAG		0.269	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		5	16	1	0	0.0215528	1	0.0220599	5	16				
LCE1F	353137	broad.mit.edu	37	1	152748927	152748927	+	Missense_Mutation	SNP	C	C	A	rs202168792|rs554010131	byFrequency	TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr1:152748927C>A	ENST00000334371.2	+	1	80	c.80C>A	c.(79-81)cCg>cAg	p.P27Q		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	27	Pro-rich.				keratinization (GO:0031424)					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			tgccccacaccgaagtgcccc	0.657																																						ENST00000334371.2																			0				kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(79-81)cCg>cAg		late cornified envelope 1F							58.0	61.0	60.0					1																	152748927		2203	4300	6503	SO:0001583	missense	353137				keratinization			g.chr1:152748927C>A		CCDS1023.1	1q21.3	2008-02-05			ENSG00000240386	ENSG00000240386		"""Late cornified envelopes"""	29467	protein-coding gene	gene with protein product		612608				11698679	Standard	NM_178354		Approved	LEP6	uc010pdv.2	Q5T754	OTTHUMG00000012403	ENST00000334371.2:c.80C>A	1.37:g.152748927C>A	ENSP00000334187:p.Pro27Gln						p.P27Q	NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		1	80	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		27			Pro-rich.			Missense_Mutation	SNP	ENST00000334371.2	37	c.80C>A	CCDS1023.1	.	.	.	.	.	.	.	.	.	.	C	1.262	-0.615668	0.03663	.	.	ENSG00000240386	ENST00000334371	T	0.05199	3.48	4.56	3.64	0.41730	.	0.000000	0.34986	N	0.003530	T	0.12774	0.0310	M	0.86268	2.805	0.09310	N	1	D	0.63046	0.992	P	0.61592	0.891	T	0.03017	-1.1082	10	0.87932	D	0	.	10.8549	0.46794	0.0:0.8097:0.1903:0.0	.	27	Q5T754	LCE1F_HUMAN	Q	27	ENSP00000334187:P27Q	ENSP00000334187:P27Q	P	+	2	0	LCE1F	151015551	0.338000	0.24775	0.049000	0.19019	0.010000	0.07245	3.191000	0.50981	1.257000	0.44085	0.557000	0.71058	CCG		0.657	LCE1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034523.2	NM_178354		11	86	1	0	1.58986e-06	1	1.77331e-06	11	86				
KIAA0195	9772	broad.mit.edu	37	17	73484066	73484066	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr17:73484066C>T	ENST00000314256.7	+	6	857	c.463C>T	c.(463-465)Ctc>Ttc	p.L155F	KIAA0195_ENST00000375248.5_Missense_Mutation_p.L165F|KIAA0195_ENST00000579208.1_Intron|KIAA0195_ENST00000583795.1_3'UTR	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	155						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTATCCAGACCTCCACATGCC	0.587																																						ENST00000314256.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42						c.(463-465)Ctc>Ttc		KIAA0195							118.0	93.0	102.0					17																	73484066		2203	4300	6503	SO:0001583	missense	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73484066C>T		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.463C>T	17.37:g.73484066C>T	ENSP00000313885:p.Leu155Phe					KIAA0195_ENST00000579208.1_Intron|KIAA0195_ENST00000583795.1_3'UTR|KIAA0195_ENST00000375248.5_Missense_Mutation_p.L165F	p.L155F	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		6	857	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		155					O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	37	c.463C>T	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.445463	0.84101	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	T;T	0.53423	0.62;0.62	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000001	T	0.62804	0.2458	M	0.74647	2.275	0.80722	D	1	D;P	0.53312	0.959;0.935	P;P	0.56042	0.79;0.642	T	0.66654	-0.5869	10	0.56958	D	0.05	-29.389	14.5184	0.67835	0.0:0.8525:0.1475:0.0	.	165;155	C9JL75;Q12767	.;K0195_HUMAN	F	155;165	ENSP00000313885:L155F;ENSP00000364397:L165F	ENSP00000313885:L155F	L	+	1	0	KIAA0195	70995661	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.652000	0.67959	2.351000	0.79841	0.561000	0.74099	CTC		0.587	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		6	67	0	0	0	1	0	6	67				
LARP1B	55132	broad.mit.edu	37	4	129043120	129043120	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr4:129043120A>C	ENST00000326639.6	+	11	1512	c.1301A>C	c.(1300-1302)aAt>aCt	p.N434T	LARP1B_ENST00000441387.1_Missense_Mutation_p.N434T|LARP1B_ENST00000427266.1_Missense_Mutation_p.N434T|LARP1B_ENST00000512292.1_Missense_Mutation_p.N434T|LARP1B_ENST00000264584.5_Missense_Mutation_p.N387T|LARP1B_ENST00000354456.3_5'UTR	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	434						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						TGGTCTGATAATGATTCAGAT	0.333																																						ENST00000326639.6																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						c.(1300-1302)aAt>aCt		La ribonucleoprotein domain family, member 1B							74.0	73.0	73.0					4																	129043120		2203	4300	6503	SO:0001583	missense	55132						RNA binding	g.chr4:129043120A>C		CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"""La ribonucleoprotein domain containing"""	24704	protein-coding gene	gene with protein product			"""La ribonucleoprotein domain family, member 2"""	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.1301A>C	4.37:g.129043120A>C	ENSP00000321997:p.Asn434Thr					LARP1B_ENST00000512292.1_Missense_Mutation_p.N434T|LARP1B_ENST00000427266.1_Missense_Mutation_p.N434T|LARP1B_ENST00000264584.5_Missense_Mutation_p.N387T|LARP1B_ENST00000441387.1_Missense_Mutation_p.N434T|LARP1B_ENST00000354456.3_5'UTR	p.N434T	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN			11	1512	+			434					Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	ENST00000326639.6	37	c.1301A>C	CCDS3738.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.00|16.00	2.998237|2.998237	0.54147|0.54147	.|.	.|.	ENSG00000138709|ENSG00000138709	ENST00000326639;ENST00000512292;ENST00000508819;ENST00000264584;ENST00000441387;ENST00000427266|ENST00000507377	T;T;T;T;T;T|.	0.28895|.	2.0;1.59;1.59;1.99;2.0;1.59|.	4.71|4.71	3.51|3.51	0.40186|0.40186	.|.	0.348024|.	0.29995|.	N|.	0.010664|.	T|.	0.37598|.	0.1009|.	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	B;B;B|.	0.34161|.	0.439;0.215;0.4|.	B;B;B|.	0.30855|.	0.109;0.101;0.121|.	T|.	0.10132|.	-1.0643|.	10|.	0.72032|.	D|.	0.01|.	.|.	4.8347|4.8347	0.13458|0.13458	0.6896:0.1888:0.1216:0.0|0.6896:0.1888:0.1216:0.0	.|.	387;434;434|.	D6RJB0;Q659C4;G3XAJ5|.	.;LAR1B_HUMAN;.|.	T|Y	434;434;387;387;434;434|402	ENSP00000321997:N434T;ENSP00000422850:N434T;ENSP00000427281:N387T;ENSP00000264584:N387T;ENSP00000396521:N434T;ENSP00000403586:N434T|.	ENSP00000264584:N387T|.	N|X	+|+	2|3	0|2	LARP1B|LARP1B	129262570|129262570	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.964000|0.964000	0.63967|0.63967	3.192000|3.192000	0.50989|0.50989	0.808000|0.808000	0.34231|0.34231	-0.449000|-0.449000	0.05564|0.05564	AAT|TAA		0.333	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078		9	51	0	0	0	1	0	9	51				
STRA6	64220	broad.mit.edu	37	15	74474544	74474544	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr15:74474544A>T	ENST00000323940.5	-	16	1723	c.1478T>A	c.(1477-1479)gTc>gAc	p.V493D	STRA6_ENST00000395105.4_Missense_Mutation_p.V493D|STRA6_ENST00000574439.1_5'UTR|RP11-665J16.1_ENST00000561647.1_RNA|STRA6_ENST00000416286.3_Missense_Mutation_p.V485D|STRA6_ENST00000423167.2_Missense_Mutation_p.V484D|STRA6_ENST00000574278.1_Missense_Mutation_p.V508D|STRA6_ENST00000535552.1_Missense_Mutation_p.V530D|STRA6_ENST00000563965.1_Missense_Mutation_p.V532D|STRA6_ENST00000449139.2_Missense_Mutation_p.V493D	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	493					adrenal gland development (GO:0030325)|alveolar primary septum development (GO:0061143)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|cognition (GO:0050890)|developmental growth (GO:0048589)|diaphragm development (GO:0060539)|digestive tract morphogenesis (GO:0048546)|ductus arteriosus closure (GO:0097070)|ear development (GO:0043583)|embryonic camera-type eye formation (GO:0060900)|embryonic digestive tract development (GO:0048566)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|feeding behavior (GO:0007631)|female genitalia development (GO:0030540)|head development (GO:0060322)|head morphogenesis (GO:0060323)|heart development (GO:0007507)|kidney development (GO:0001822)|learning (GO:0007612)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung vasculature development (GO:0060426)|neuromuscular process (GO:0050905)|nose morphogenesis (GO:0043585)|paramesonephric duct development (GO:0061205)|phototransduction, visible light (GO:0007603)|positive regulation of behavior (GO:0048520)|positive regulation of JAK-STAT cascade (GO:0046427)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol transport (GO:0034633)|smooth muscle tissue development (GO:0048745)|uterus morphogenesis (GO:0061038)|ventricular septum development (GO:0003281)|vitamin A import (GO:0071939)|vocal learning (GO:0042297)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	receptor activity (GO:0004872)|vitamin transporter activity (GO:0051183)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						CTCCAGGAAGACCCAATGGGC	0.622																																						ENST00000323940.5																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						c.(1477-1479)gTc>gAc		stimulated by retinoic acid 6							73.0	66.0	69.0					15																	74474544		2198	4297	6495	SO:0001583	missense	64220				adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity	g.chr15:74474544A>T	AF352728	CCDS10261.1, CCDS45301.1, CCDS45302.1, CCDS55973.1, CCDS55974.1, CCDS58387.1	15q24.1	2014-07-14	2012-12-07		ENSG00000137868	ENSG00000137868			30650	protein-coding gene	gene with protein product	"""retinol binding protein 4 receptor"""	610745	"""stimulated by retinoic acid gene 6 homolog (mouse)"", ""stimulated by retinoic acid 6 homolog (mouse)"""			17255476, 17273977	Standard	NM_022369		Approved	FLJ12541	uc002axj.3	Q9BX79	OTTHUMG00000138998	ENST00000323940.5:c.1478T>A	15.37:g.74474544A>T	ENSP00000326085:p.Val493Asp					STRA6_ENST00000423167.2_Missense_Mutation_p.V484D|STRA6_ENST00000416286.3_Missense_Mutation_p.V485D|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000563965.1_Missense_Mutation_p.V532D|STRA6_ENST00000574278.1_Missense_Mutation_p.V508D|STRA6_ENST00000535552.1_Missense_Mutation_p.V530D|STRA6_ENST00000395105.4_Missense_Mutation_p.V493D|STRA6_ENST00000449139.2_Missense_Mutation_p.V493D	p.V493D	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN			16	1723	-			493					A8K7F1|B7Z5M9|B7Z862|D3DW54|F5GYI8|I3L1G8|Q6PJF8|Q71RB9|Q7L9G1|Q7Z3U9|Q8TB21|Q9BX78|Q9H9U8	Missense_Mutation	SNP	ENST00000323940.5	37	c.1478T>A	CCDS10261.1	.	.	.	.	.	.	.	.	.	.	A	14.81	2.647349	0.47258	.	.	ENSG00000137868	ENST00000395105;ENST00000323940;ENST00000416286;ENST00000545137;ENST00000449139;ENST00000423167;ENST00000535552;ENST00000536129	D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53	4.54	-2.37	0.06643	.	0.753768	0.12232	N	0.487345	T	0.72252	0.3437	L	0.51422	1.61	0.31712	N	0.639361	P;P;P;P;P;P	0.49559	0.787;0.787;0.666;0.666;0.787;0.925	B;B;B;B;B;B	0.44108	0.441;0.441;0.279;0.261;0.441;0.387	T	0.70831	-0.4765	10	0.66056	D	0.02	-16.955	5.6733	0.17735	0.4349:0.0:0.407:0.1582	.	530;531;484;493;532;302	F5GYI8;B7Z5G7;Q9BX79-3;Q9BX79;Q9BX79-4;B3KRT6	.;.;.;STRA6_HUMAN;.;.	D	493;493;425;302;532;484;530;383	ENSP00000378537:V493D;ENSP00000326085:V493D;ENSP00000413012:V484D;ENSP00000440238:V530D	ENSP00000326085:V493D	V	-	2	0	STRA6	72261597	0.106000	0.21978	0.981000	0.43875	0.938000	0.57974	0.200000	0.17257	-0.445000	0.07159	0.260000	0.18958	GTC		0.622	STRA6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272891.1			8	72	0	0	0	1	0	8	72				
NEUROG2	63973	broad.mit.edu	37	4	113436581	113436581	+	Silent	SNP	T	T	C			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr4:113436581T>C	ENST00000313341.3	-	2	377	c.51A>G	c.(49-51)ttA>ttG	p.L17L	RP11-402J6.1_ENST00000506057.1_RNA|RP11-402J6.1_ENST00000504009.1_RNA	NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	17					axon guidance (GO:0007411)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		CGAGCAGCACTAACACGTCCT	0.602																																						ENST00000313341.3																			0				central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12						c.(49-51)ttA>ttG		neurogenin 2							45.0	40.0	41.0					4																	113436581		2138	4145	6283	SO:0001819	synonymous_variant	63973				positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding	g.chr4:113436581T>C	AF303002	CCDS3698.1	4q25	2013-05-21			ENSG00000178403	ENSG00000178403		"""Basic helix-loop-helix proteins"""	13805	protein-coding gene	gene with protein product		606624					Standard	NM_024019		Approved	Atoh4, Math4A, ngn-2, bHLHa8, NGN2	uc003ias.3	Q9H2A3	OTTHUMG00000132907	ENST00000313341.3:c.51A>G	4.37:g.113436581T>C						RP11-402J6.1_ENST00000506057.1_RNA	p.L17L	NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00168)	2	377	-		Ovarian(17;0.156)	17					Q8N416	Silent	SNP	ENST00000313341.3	37	c.51A>G	CCDS3698.1																																																																																				0.602	NEUROG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256414.1	NM_024019		11	36	0	0	0	1	0	11	36				
NCOA3	8202	broad.mit.edu	37	20	46252789	46252789	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr20:46252789A>T	ENST00000371998.3	+	4	409	c.218A>T	c.(217-219)aAg>aTg	p.K73M	NCOA3_ENST00000341724.6_Missense_Mutation_p.K73M|NCOA3_ENST00000372004.3_Missense_Mutation_p.K73M|NCOA3_ENST00000371997.3_Missense_Mutation_p.K73M			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	73	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GCGATTTTAAAGGAAACAGTA	0.358																																						ENST00000372004.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(217-219)aAg>aTg		nuclear receptor coactivator 3							75.0	73.0	74.0					20																	46252789		2203	4300	6503	SO:0001583	missense	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46252789A>T	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.218A>T	20.37:g.46252789A>T	ENSP00000361066:p.Lys73Met					NCOA3_ENST00000371997.3_Missense_Mutation_p.K73M|NCOA3_ENST00000371998.3_Missense_Mutation_p.K73M|NCOA3_ENST00000341724.6_Missense_Mutation_p.K73M	p.K73M	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			4	434	+			73			Helix-loop-helix motif.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	c.218A>T	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.532258	0.85812	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.03094	4.08;4.22;4.22;4.05	6.17	6.17	0.99709	Helix-loop-helix DNA-binding (4);	0.000000	0.85682	D	0.000000	T	0.13884	0.0336	L	0.43152	1.355	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.997;0.984;0.984;0.993;0.984	T	0.00256	-1.1873	10	0.87932	D	0	-36.6174	16.8222	0.85835	1.0:0.0:0.0:0.0	.	73;77;73;73;73	Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;NCOA3_HUMAN	M	73	ENSP00000342123:K73M;ENSP00000361073:K73M;ENSP00000361066:K73M;ENSP00000361065:K73M	ENSP00000345671:K73M	K	+	2	0	NCOA3	45686196	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.303000	0.72794	2.371000	0.80710	0.533000	0.62120	AAG		0.358	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		6	45	0	0	0	1	0	6	45				
TGOLN2	10618	broad.mit.edu	37	2	85553654	85553654	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr2:85553654T>C	ENST00000409232.3	-	2	1262	c.1201A>G	c.(1201-1203)Atc>Gtc	p.I401V	TGOLN2_ENST00000409015.1_Missense_Mutation_p.I401V|TGOLN2_ENST00000377386.3_Missense_Mutation_p.I401V|TGOLN2_ENST00000444342.2_Missense_Mutation_p.I401V|TGOLN2_ENST00000282120.2_Missense_Mutation_p.I245V|TGOLN2_ENST00000398263.2_Missense_Mutation_p.I343V			O43493	TGON2_HUMAN	trans-golgi network protein 2	401						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											TGATGAGCGATATAGAGGACA	0.562																																						ENST00000377386.3																			0											c.(1201-1203)Atc>Gtc		trans-golgi network protein 2							67.0	68.0	68.0					2																	85553654		1935	4142	6077	SO:0001583	missense	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85553654T>C	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"""trans-Golgi network protein (46, 48, 51kD isoforms)"""	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.1201A>G	2.37:g.85553654T>C	ENSP00000386443:p.Ile401Val					TGOLN2_ENST00000282120.2_Missense_Mutation_p.I245V|TGOLN2_ENST00000409232.3_Missense_Mutation_p.I401V|TGOLN2_ENST00000444342.2_Missense_Mutation_p.I401V|TGOLN2_ENST00000409015.1_Missense_Mutation_p.I401V|TGOLN2_ENST00000398263.2_Missense_Mutation_p.I343V	p.I401V			O43493	TGON2_HUMAN			2	1663	-			401					B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Missense_Mutation	SNP	ENST00000409232.3	37	c.1201A>G	CCDS56126.1	.	.	.	.	.	.	.	.	.	.	T	14.68	2.606729	0.46527	.	.	ENSG00000152291	ENST00000377386;ENST00000282120;ENST00000398263;ENST00000409232;ENST00000409015;ENST00000444342	T;T;T;T;T;T	0.15017	2.48;2.66;2.51;2.52;2.46;2.47	4.68	3.53	0.40419	.	.	.	.	.	T	0.20659	0.0497	L	0.46157	1.445	0.30367	N	0.783226	P;P;P;P	0.48230	0.763;0.907;0.763;0.884	B;B;B;P	0.49708	0.355;0.364;0.355;0.62	T	0.08973	-1.0696	9	0.49607	T	0.09	-13.8647	6.0554	0.19809	0.0:0.1985:0.0:0.8015	.	401;401;343;401	O43493;O43493-5;O43493-4;O43493-2	TGON2_HUMAN;.;.;.	V	401;245;343;401;401;401	ENSP00000366603:I401V;ENSP00000282120:I245V;ENSP00000381312:I343V;ENSP00000386443:I401V;ENSP00000387035:I401V;ENSP00000391190:I401V	ENSP00000282120:I245V	I	-	1	0	TGOLN2	85407165	1.000000	0.71417	0.993000	0.49108	0.739000	0.42172	0.681000	0.25320	0.831000	0.34780	0.533000	0.62120	ATC		0.562	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		14	76	0	0	0	1	0	14	76				
SNX22	79856	broad.mit.edu	37	15	64446598	64446598	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr15:64446598A>G	ENST00000325881.4	+	7	532	c.473A>G	c.(472-474)aAc>aGc	p.N158S	PPIB_ENST00000558492.1_5'Flank	NM_024798.2	NP_079074.2	Q96L94	SNX22_HUMAN	sorting nexin 22	158					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			large_intestine(3)|lung(1)|urinary_tract(2)	6						TCGCTGCCCAACGTGGTGGTG	0.597											OREG0023180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000325881.4																			0				large_intestine(3)|lung(1)|urinary_tract(2)	6						c.(472-474)aAc>aGc		sorting nexin 22							103.0	99.0	100.0					15																	64446598		2203	4300	6503	SO:0001583	missense	79856				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr15:64446598A>G	AK024014	CCDS10190.1	15q22.1	2010-01-15			ENSG00000157734	ENSG00000157734		"""Sorting nexins"""	16315	protein-coding gene	gene with protein product						12461558, 17400918	Standard	NR_073534		Approved	FLJ13952	uc002anc.1	Q96L94	OTTHUMG00000132965	ENST00000325881.4:c.473A>G	15.37:g.64446598A>G	ENSP00000323435:p.Asn158Ser		OREG0023180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1076		p.N158S	NM_024798.2	NP_079074.2	Q96L94	SNX22_HUMAN			7	532	+			158					Q8WUS9|Q9H844	Missense_Mutation	SNP	ENST00000325881.4	37	c.473A>G	CCDS10190.1	.	.	.	.	.	.	.	.	.	.	A	10.77	1.443077	0.25987	.	.	ENSG00000157734	ENST00000325881	T	0.79141	-1.24	5.43	1.54	0.23209	.	0.439409	0.26769	N	0.022584	T	0.65281	0.2676	L	0.39397	1.21	0.09310	N	0.999997	B	0.15473	0.013	B	0.08055	0.003	T	0.55392	-0.8148	10	0.52906	T	0.07	-26.0103	7.1651	0.25685	0.6856:0.0:0.3144:0.0	.	158	Q96L94	SNX22_HUMAN	S	158	ENSP00000323435:N158S	ENSP00000323435:N158S	N	+	2	0	SNX22	62233651	0.001000	0.12720	0.027000	0.17364	0.454000	0.32378	1.390000	0.34464	0.005000	0.14708	0.402000	0.26972	AAC		0.597	SNX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256524.2	NM_024798		4	153	0	0	0	1	0	4	153				
CFH	3075	broad.mit.edu	37	1	196659265	196659265	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr1:196659265C>G	ENST00000359637.2	+	8	1102	c.1040C>G	c.(1039-1041)tCt>tGt	p.S347C	CFH_ENST00000367429.4_Missense_Mutation_p.S411C|CFH_ENST00000439155.2_Missense_Mutation_p.S411C			P08603	CFAH_HUMAN	complement factor H	411	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CAGGGTAAATCTATAGACGTT	0.393																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(1231-1233)tCt>tGt		complement factor H							79.0	72.0	75.0					1																	196659265		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196659265C>G	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.1040C>G	1.37:g.196659265C>G	ENSP00000352658:p.Ser347Cys					CFH_ENST00000359637.2_Missense_Mutation_p.S347C|CFH_ENST00000439155.2_Missense_Mutation_p.S411C	p.S411C	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			9	1472	+			411			Sushi 7.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37	c.1232C>G		.	.	.	.	.	.	.	.	.	.	C	13.90	2.374388	0.42105	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.67523	-0.27;-0.27;-0.27	4.69	3.77	0.43336	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.80994	0.4731	M	0.82517	2.595	0.09310	N	1	D;D;D;D	0.76494	0.999;0.999;0.995;0.976	D;D;P;P	0.70716	0.97;0.94;0.905;0.799	T	0.70022	-0.4986	9	0.72032	D	0.01	.	10.4887	0.44737	0.193:0.807:0.0:0.0	.	347;411;411;411	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	C	411;411;411;347	ENSP00000356399:S411C;ENSP00000402656:S411C;ENSP00000352658:S347C	ENSP00000352658:S347C	S	+	2	0	CFH	194925888	0.000000	0.05858	0.005000	0.12908	0.002000	0.02628	0.879000	0.28146	1.569000	0.49696	0.655000	0.94253	TCT		0.393	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		4	40	0	0	0	1	0	4	40				
SNRNP200	23020	broad.mit.edu	37	2	96953193	96953193	+	Silent	SNP	C	C	T			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr2:96953193C>T	ENST00000323853.5	-	26	3545	c.3468G>A	c.(3466-3468)ctG>ctA	p.L1156L	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1156	SEC63 1.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CATTATGATTCAGGTCGTACA	0.517																																						ENST00000323853.5																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						c.(3466-3468)ctG>ctA		small nuclear ribonucleoprotein 200kDa (U5)							214.0	192.0	200.0					2																	96953193		2203	4300	6503	SO:0001819	synonymous_variant	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96953193C>T	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.3468G>A	2.37:g.96953193C>T						SNRNP200_ENST00000349783.5_Intron	p.L1156L	NM_014014.4	NP_054733.2	O75643	U520_HUMAN			26	3545	-			1156			SEC63 1.		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	ENST00000323853.5	37	c.3468G>A	CCDS2020.1																																																																																				0.517	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		16	134	0	0	0	1	0	16	134				
MPP5	64398	broad.mit.edu	37	14	67745984	67745984	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr14:67745984C>G	ENST00000261681.4	+	3	758	c.97C>G	c.(97-99)Cga>Gga	p.R33G	MPP5_ENST00000555925.1_5'UTR|MPP5_ENST00000556345.1_Missense_Mutation_p.R33G	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	33	Interaction with PARD6B. {ECO:0000250}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		TCAGAAGCACCGAGAGATGGC	0.478																																						ENST00000261681.4																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18						c.(97-99)Cga>Gga		membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)							95.0	86.0	89.0					14																	67745984		2203	4300	6503	SO:0001583	missense	64398				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding	g.chr14:67745984C>G	AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"""stardust"""	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.97C>G	14.37:g.67745984C>G	ENSP00000261681:p.Arg33Gly					MPP5_ENST00000555925.1_5'UTR|MPP5_ENST00000556345.1_Missense_Mutation_p.R33G	p.R33G	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN		all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)	3	758	+			33			Interaction with PARD6B (By similarity).		A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Missense_Mutation	SNP	ENST00000261681.4	37	c.97C>G	CCDS9779.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.239107	0.58995	.	.	ENSG00000072415	ENST00000261681;ENST00000556345	T	0.11604	2.76	5.79	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.26666	0.0652	L	0.48642	1.525	0.80722	D	1	D;D	0.67145	0.993;0.996	D;D	0.76575	0.982;0.988	T	0.01051	-1.1468	10	0.72032	D	0.01	.	14.602	0.68447	0.4161:0.5839:0.0:0.0	.	33;33	Q8N3R9;G3V2B0	MPP5_HUMAN;.	G	33	ENSP00000261681:R33G	ENSP00000261681:R33G	R	+	1	2	MPP5	66815737	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.360000	0.34125	1.423000	0.47198	0.655000	0.94253	CGA		0.478	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412498.1	NM_022474		4	56	0	0	0	1	0	4	56				
C6orf89	221477	broad.mit.edu	37	6	36870018	36870018	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr6:36870018A>T	ENST00000480824.2	+	4	505	c.211A>T	c.(211-213)Atc>Ttc	p.I71F	C6orf89_ENST00000355190.3_Missense_Mutation_p.I78F|C6orf89_ENST00000510325.2_Intron|C6orf89_ENST00000373685.1_Missense_Mutation_p.I71F|C6orf89_ENST00000359359.2_5'UTR			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	71					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						CTTGGGATTAATCTTGCTCAC	0.428																																						ENST00000480824.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						c.(211-213)Atc>Ttc		chromosome 6 open reading frame 89							154.0	140.0	145.0					6																	36870018		2203	4300	6503	SO:0001583	missense	221477					integral to membrane		g.chr6:36870018A>T	AK058086	CCDS4827.1, CCDS69100.1, CCDS75444.1	6p21.31	2013-03-14			ENSG00000198663	ENSG00000198663			21114	protein-coding gene	gene with protein product	"""bombesin receptor activated protein"""					21857995, 23460338	Standard	NM_152734		Approved	FLJ25357, BRAP	uc003omw.3	Q6UWU4	OTTHUMG00000014613	ENST00000480824.2:c.211A>T	6.37:g.36870018A>T	ENSP00000475947:p.Ile71Phe					C6orf89_ENST00000373685.1_Missense_Mutation_p.I71F|C6orf89_ENST00000355190.3_Missense_Mutation_p.I78F|C6orf89_ENST00000359359.2_5'UTR|C6orf89_ENST00000510325.2_Intron	p.I71F			Q6UWU4	CF089_HUMAN			4	505	+			71					B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	ENST00000480824.2	37	c.211A>T		.	.	.	.	.	.	.	.	.	.	A	20.7	4.028588	0.75390	.	.	ENSG00000198663	ENST00000355190;ENST00000373685;ENST00000416621;ENST00000540072	T;T	0.30714	1.52;1.52	5.72	4.57	0.56435	.	0.315443	0.31760	N	0.007107	T	0.17238	0.0414	L	0.44542	1.39	0.80722	D	1	D;D	0.53462	0.96;0.96	P;P	0.51229	0.663;0.663	T	0.05954	-1.0854	10	0.24483	T	0.36	-13.9268	6.3835	0.21548	0.7739:0.0:0.2261:0.0	.	71;78	Q6UWU4;Q6UWU4-2	CF089_HUMAN;.	F	78;71;78;77	ENSP00000347322:I78F;ENSP00000362789:I71F	ENSP00000347322:I78F	I	+	1	0	C6orf89	36977996	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.745000	0.38278	1.008000	0.39264	0.482000	0.46254	ATC		0.428	C6orf89-004	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000040387.2	NM_152734		11	91	0	0	0	1	0	11	91				
TRGV2	6974	broad.mit.edu	37	7	38402656	38402656	+	RNA	SNP	G	G	T			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr7:38402656G>T	ENST00000426402.2	-	0	352									T cell receptor gamma variable 2																		TCCTGGTGTAGGTACCAGTGG	0.498																																						ENST00000426402.2																			0																				103.0	96.0	98.0					7																	38402656		1941	4156	6097			6974							g.chr7:38402656G>T	M13429		7p14	2012-02-07			ENSG00000233306	ENSG00000233306		"""T cell receptors / TRG locus"""	12287	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V2"""			TCRGV2		2938743, 2969332	Standard	NG_001336		Approved	VIS2			OTTHUMG00000155105		7.37:g.38402656G>T														0	352	-									RNA	SNP	ENST00000426402.2	37																																																																																						0.498	TRGV2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338419.4	NG_001336		12	71	1	0	9.31168e-06	1	1.02546e-05	12	71				
CCDC101	112869	broad.mit.edu	37	16	28596281	28596281	+	Silent	SNP	C	C	T			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr16:28596281C>T	ENST00000317058.3	+	3	310	c.123C>T	c.(121-123)acC>acT	p.T41T		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	41					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|SAGA-type complex (GO:0070461)	methylated histone binding (GO:0035064)			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						TCCAGAAGACCCATGAGCGGA	0.542																																						ENST00000317058.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(121-123)acC>acT		coiled-coil domain containing 101							77.0	68.0	71.0					16																	28596281		2197	4300	6497	SO:0001819	synonymous_variant	112869				establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding	g.chr16:28596281C>T	AK057008	CCDS10635.1	16p11.2	2010-08-03			ENSG00000176476	ENSG00000176476			25156	protein-coding gene	gene with protein product	"""SAGA-associated factor 29 homolog (yeast)"""	613374				17334388	Standard	NM_138414		Approved	FLJ32446, SGF29	uc002dqf.3	Q96ES7	OTTHUMG00000131763	ENST00000317058.3:c.123C>T	16.37:g.28596281C>T							p.T41T	NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN			3	310	+			41					Q96MF5	Silent	SNP	ENST00000317058.3	37	c.123C>T	CCDS10635.1																																																																																				0.542	CCDC101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254691.1	NM_138414		7	61	0	0	0	1	0	7	61				
MTMR14	64419	broad.mit.edu	37	3	9695337	9695337	+	Silent	SNP	G	G	T			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr3:9695337G>T	ENST00000296003.4	+	2	314	c.192G>T	c.(190-192)ctG>ctT	p.L64L	MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000351233.5_Silent_p.L64L|MTMR14_ENST00000353332.5_Silent_p.L64L	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	64					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					GTCTGGAGCTGTTTGGCCGAG	0.507																																						ENST00000296003.4																			0				breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21						c.(190-192)ctG>ctT		myotubularin related protein 14							159.0	153.0	155.0					3																	9695337		1973	4166	6139	SO:0001819	synonymous_variant	64419					perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chr3:9695337G>T	BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	26190	protein-coding gene	gene with protein product	"""egg-derived tyrosine phosphatase homolog (Drosophila)"""	611089	"""chromosome 3 open reading frame 29"""	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.192G>T	3.37:g.9695337G>T						MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000351233.5_Silent_p.L64L|MTMR14_ENST00000353332.5_Silent_p.L64L	p.L64L	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN			2	314	+	Medulloblastoma(99;0.227)		64					Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Silent	SNP	ENST00000296003.4	37	c.192G>T	CCDS43043.1																																																																																				0.507	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1	NM_022485		29	103	1	0	8.88839e-20	1	1.04499e-19	29	103				
KIAA0232	9778	broad.mit.edu	37	4	6878388	6878388	+	Splice_Site	SNP	A	A	T			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr4:6878388A>T	ENST00000307659.5	+	9	4367	c.3912A>T	c.(3910-3912)gaA>gaT	p.E1304D	KIAA0232_ENST00000425103.1_Splice_Site_p.E1304D	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1304							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						ATGATTAAGAATGTTACACAA	0.363																																						ENST00000307659.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						c.e9-1		KIAA0232							123.0	113.0	116.0					4																	6878388		1853	4089	5942	SO:0001630	splice_region_variant	9778						ATP binding	g.chr4:6878388A>T	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.3911-1A>T	4.37:g.6878388A>T						KIAA0232_ENST00000425103.1_Splice_Site_p.E1304_splice	p.E1304_splice	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN			9	4367	+			1304					A7E2D2	Splice_Site	SNP	ENST00000307659.5	37	c.3910_splice	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	A	19.16	3.773206	0.69992	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	4.98	1.1	0.20463	.	0.000000	0.56097	D	0.000021	T	0.32102	0.0818	N	0.24115	0.695	0.35567	D	0.80512	B	0.13594	0.008	B	0.14578	0.011	T	0.15350	-1.0440	9	0.52906	T	0.07	.	4.7165	0.12898	0.5641:0.1603:0.2756:0.0	.	1304	Q92628	K0232_HUMAN	D	1304	.	ENSP00000303928:E1304D	E	+	3	2	KIAA0232	6929289	0.997000	0.39634	1.000000	0.80357	0.990000	0.78478	0.223000	0.17719	0.365000	0.24400	0.402000	0.26972	GAA		0.363	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743	Missense_Mutation	5	46	0	0	0	1	0	5	46				
PHF3	23469	broad.mit.edu	37	6	64394926	64394926	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr6:64394926A>G	ENST00000262043.3	+	4	1643	c.1303A>G	c.(1303-1305)Atc>Gtc	p.I435V	PHF3_ENST00000509330.1_Missense_Mutation_p.I435V|PHF3_ENST00000393387.1_Missense_Mutation_p.I435V			Q92576	PHF3_HUMAN	PHD finger protein 3	435					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GGAAAGTAATATCTTGGAAAA	0.368																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(1303-1305)Atc>Gtc		PHD finger protein 3							89.0	97.0	94.0					6																	64394926		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64394926A>G	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.1303A>G	6.37:g.64394926A>G	ENSP00000262043:p.Ile435Val					PHF3_ENST00000509330.1_Missense_Mutation_p.I435V|PHF3_ENST00000393387.1_Missense_Mutation_p.I435V	p.I435V			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		4	1643	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		435					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.1303A>G	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	A	0.898	-0.723227	0.03158	.	.	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387	T;T;T;T;T;T	0.47528	2.15;1.8;2.18;1.82;0.84;2.18	5.72	-1.42	0.08913	.	0.965399	0.08431	N	0.946881	T	0.11580	0.0282	N	0.19112	0.55	0.22787	N	0.998739	B;B	0.23377	0.001;0.084	B;B	0.20184	0.004;0.028	T	0.31613	-0.9937	10	0.29301	T	0.29	-1.2397	7.3682	0.26785	0.6235:0.1104:0.2661:0.0	.	435;435	Q92576;D6R9X2	PHF3_HUMAN;.	V	249;347;435;388;435;435	ENSP00000424694:I249V;ENSP00000425227:I347V;ENSP00000262043:I435V;ENSP00000424078:I388V;ENSP00000422841:I435V;ENSP00000377048:I435V	ENSP00000262043:I435V	I	+	1	0	PHF3	64452885	0.429000	0.25530	0.217000	0.23759	0.402000	0.30811	0.093000	0.15086	-0.121000	0.11787	-0.347000	0.07816	ATC		0.368	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			12	114	0	0	0	1	0	12	114				
PCDHGC5	56097	broad.mit.edu	37	5	140871023	140871023	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr5:140871023C>T	ENST00000252087.1	+	1	2216	c.2216C>T	c.(2215-2217)cCg>cTg	p.P739L	PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	739					homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACCCTCCCCGGACTTCTAT	0.632																																						ENST00000252087.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(2215-2217)cCg>cTg									50.0	53.0	52.0					5																	140871023		2203	4300	6503	SO:0001583	missense	56097				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140871023C>T	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.2216C>T	5.37:g.140871023C>T	ENSP00000252087:p.Pro739Leu					PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC3_ENST00000308177.3_Intron	p.P739L	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2216	+			739					Q9Y5C2	Missense_Mutation	SNP	ENST00000252087.1	37	c.2216C>T	CCDS4263.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.443642	0.25987	.	.	ENSG00000240764	ENST00000252087	T	0.48522	0.81	4.93	1.16	0.20824	.	0.578007	0.14288	N	0.329113	T	0.32436	0.0829	L	0.39898	1.24	0.23150	N	0.998215	B;B	0.11235	0.004;0.0	B;B	0.01281	0.0;0.0	T	0.19811	-1.0294	10	0.23891	T	0.37	.	5.4912	0.16777	0.1809:0.3457:0.4734:0.0	.	739;739	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	L	739	ENSP00000252087:P739L	ENSP00000252087:P739L	P	+	2	0	PCDHGC5	140851207	0.130000	0.22417	0.956000	0.39512	0.623000	0.37688	0.956000	0.29202	0.017000	0.15025	-1.227000	0.01581	CCG		0.632	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929		7	80	0	0	0	1	0	7	80				
MCOLN3	55283	broad.mit.edu	37	1	85506782	85506782	+	Silent	SNP	G	G	A			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr1:85506782G>A	ENST00000370589.2	-	3	359	c.307C>T	c.(307-309)Cta>Tta	p.L103L	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Intron|MCOLN3_ENST00000370587.1_Silent_p.L103L	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	103					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TATCCTTTTAGGAAAAGGTGT	0.368																																						ENST00000370587.1																			0				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34						c.(307-309)Cta>Tta		mucolipin 3							198.0	176.0	184.0					1																	85506782		2203	4300	6503	SO:0001819	synonymous_variant	55283					integral to membrane	ion channel activity	g.chr1:85506782G>A	AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.307C>T	1.37:g.85506782G>A						WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000370589.2_Silent_p.L103L|MCOLN3_ENST00000341115.4_Intron	p.L103L			Q8TDD5	MCLN3_HUMAN		all cancers(265;0.00957)|Epithelial(280;0.0254)	4	683	-			103					Q5T4H5|Q5T4H6|Q9NV09	Silent	SNP	ENST00000370589.2	37	c.307C>T	CCDS701.1																																																																																				0.368	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298		4	72	0	0	0	1	0	4	72				
YIPF7	285525	broad.mit.edu	37	4	44638032	44638032	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr4:44638032C>T	ENST00000332990.5	-	3	275	c.259G>A	c.(259-261)Gca>Aca	p.A87T	YIPF7_ENST00000415895.4_Missense_Mutation_p.A63T	NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	87						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						AATTGTCCTGCGTAACCCGAT	0.403																																						ENST00000332990.5																			0				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						c.(259-261)Gca>Aca		Yip1 domain family, member 7							94.0	93.0	93.0					4																	44638032		1916	4142	6058	SO:0001583	missense	285525					endoplasmic reticulum membrane|integral to membrane		g.chr4:44638032C>T	AK096895	CCDS54766.1	4p13	2008-08-07			ENSG00000177752	ENSG00000177752		"""Yip1 domain family"""	26825	protein-coding gene	gene with protein product							Standard	NM_182592		Approved	FLJ39576, FinGER9	uc021xnx.1	Q8N8F6	OTTHUMG00000160467	ENST00000332990.5:c.259G>A	4.37:g.44638032C>T	ENSP00000332772:p.Ala87Thr						p.A87T	NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN			3	275	-			87					Q3SY21|Q3SY22	Missense_Mutation	SNP	ENST00000332990.5	37	c.259G>A	CCDS54766.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.664|2.664	-0.279058|-0.279058	0.05642|0.05642	.|.	.|.	ENSG00000177752|ENSG00000177752	ENST00000332990|ENST00000415895	T|.	0.29142|.	1.58|.	5.02|5.02	-9.86|-9.86	0.00473|0.00473	.|.	1.125310|.	0.06891|.	N|.	0.804209|.	T|T	0.05364|0.05364	0.0142|0.0142	N|N	0.00554|0.00554	-1.385|-1.385	0.09310|0.09310	N|N	1|1	B;B|.	0.06786|.	0.0;0.001|.	B;B|.	0.06405|.	0.0;0.002|.	T|T	0.23154|0.23154	-1.0196|-1.0196	10|5	0.10111|.	T|.	0.7|.	-5.4118|-5.4118	3.9111|3.9111	0.09204|0.09204	0.1463:0.1727:0.1455:0.5354|0.1463:0.1727:0.1455:0.5354	.|.	87;87|.	Q8N8F6-4;Q8N8F6|.	.;YIPF7_HUMAN|.	T|H	87|63	ENSP00000332772:A87T|.	ENSP00000332772:A87T|.	A|R	-|-	1|2	0|0	YIPF7|YIPF7	44332789|44332789	0.025000|0.025000	0.19082|0.19082	0.000000|0.000000	0.03702|0.03702	0.146000|0.146000	0.21551|0.21551	-0.487000|-0.487000	0.06505|0.06505	-2.000000|-2.000000	0.00965|0.00965	-0.809000|-0.809000	0.03173|0.03173	GCA|CGC		0.403	YIPF7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_182592		7	35	0	0	0	1	0	7	35				
TIAM1	7074	broad.mit.edu	37	21	32617877	32617877	+	Missense_Mutation	SNP	G	G	A	rs146528832		TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr21:32617877G>A	ENST00000286827.3	-	7	1982	c.1511C>T	c.(1510-1512)gCg>gTg	p.A504V	TIAM1_ENST00000541036.1_Missense_Mutation_p.A504V|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	504	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTCAGGCACCGCCTGCACAAT	0.552																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(1510-1512)gCg>gTg		T-cell lymphoma invasion and metastasis 1		G	VAL/ALA	0,4406		0,0,2203	93.0	84.0	87.0		1511	5.3	1.0	21	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	missense	TIAM1	NM_003253.2	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	504/1592	32617877	1,13005	2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32617877G>A		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.1511C>T	21.37:g.32617877G>A	ENSP00000286827:p.Ala504Val					TIAM1_ENST00000541036.1_Missense_Mutation_p.A504V|TIAM1_ENST00000469412.1_5'UTR	p.A504V	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			7	1982	-			504			PH 1.		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.1511C>T	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392276	0.83011	0.0	1.16E-4	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.27256	1.68;1.68	5.33	5.33	0.75918	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.051402	0.85682	D	0.000000	T	0.47229	0.1434	L	0.48642	1.525	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.984;0.96	D;D;P;B	0.85130	0.992;0.997;0.512;0.212	T	0.37079	-0.9721	10	0.66056	D	0.02	.	19.2079	0.93742	0.0:0.0:1.0:0.0	.	504;504;345;504	F5GZ53;B7ZLR6;E9PD83;Q13009	.;.;.;TIAM1_HUMAN	V	504;345;504	ENSP00000286827:A504V;ENSP00000441570:A504V	ENSP00000286827:A504V	A	-	2	0	TIAM1	31539748	1.000000	0.71417	0.964000	0.40570	0.689000	0.40095	9.627000	0.98412	2.768000	0.95171	0.655000	0.94253	GCG		0.552	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		5	37	0	0	0	1	0	5	37				
ACOT12	134526	broad.mit.edu	37	5	80640726	80640726	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr5:80640726A>T	ENST00000307624.3	-	8	936	c.908T>A	c.(907-909)aTc>aAc	p.I303N	ACOT12_ENST00000508234.1_5'Flank	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	303					acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		AATGGGTTGGATTCTGGGAAA	0.478																																						ENST00000307624.3																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23						c.(907-909)aTc>aAc		acyl-CoA thioesterase 12							136.0	134.0	135.0					5																	80640726		2203	4300	6503	SO:0001583	missense	134526				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chr5:80640726A>T	AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	24436	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 15"""	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.908T>A	5.37:g.80640726A>T	ENSP00000303246:p.Ile303Asn						p.I303N	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)	8	936	-		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)	303					B3KVK9|Q5FWE9	Missense_Mutation	SNP	ENST00000307624.3	37	c.908T>A	CCDS4055.1	.	.	.	.	.	.	.	.	.	.	A	13.38	2.219661	0.39201	.	.	ENSG00000172497	ENST00000307624	T	0.31769	1.48	5.53	5.53	0.82687	.	0.207319	0.41500	D	0.000875	T	0.49762	0.1576	M	0.80746	2.51	0.80722	D	1	D	0.55605	0.972	P	0.52710	0.707	T	0.57195	-0.7853	10	0.72032	D	0.01	-2.544	14.635	0.68682	1.0:0.0:0.0:0.0	.	303	Q8WYK0	ACO12_HUMAN	N	303	ENSP00000303246:I303N	ENSP00000303246:I303N	I	-	2	0	ACOT12	80676482	1.000000	0.71417	0.413000	0.26509	0.089000	0.18198	7.606000	0.82863	2.115000	0.64714	0.459000	0.35465	ATC		0.478	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767		6	61	0	0	0	1	0	6	61				
PCDHGB1	56104	broad.mit.edu	37	5	140731367	140731367	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr5:140731367C>T	ENST00000523390.1	+	1	1540	c.1540C>T	c.(1540-1542)Cgc>Tgc	p.R514C	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	514	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCGCGCAGCGCGCCTTCGA	0.682																																						ENST00000523390.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16						c.(1540-1542)Cgc>Tgc									39.0	45.0	43.0					5																	140731367		2015	4186	6201	SO:0001583	missense	56104							g.chr5:140731367C>T	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1540C>T	5.37:g.140731367C>T	ENSP00000429273:p.Arg514Cys					PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.R514C	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1540	+								Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	c.1540C>T	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	17.36	3.370772	0.61624	.	.	ENSG00000254221	ENST00000523390	T	0.54675	0.56	5.49	5.49	0.81192	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.69450	0.3112	M	0.87038	2.855	0.39293	D	0.964766	D;P	0.55605	0.972;0.939	P;P	0.50136	0.54;0.632	T	0.76908	-0.2785	9	0.59425	D	0.04	.	19.3497	0.94378	0.0:1.0:0.0:0.0	.	514;514	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	C	514	ENSP00000429273:R514C	ENSP00000429273:R514C	R	+	1	0	PCDHGB1	140711551	0.000000	0.05858	1.000000	0.80357	0.993000	0.82548	0.035000	0.13797	2.740000	0.93945	0.563000	0.77884	CGC		0.682	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		11	88	0	0	0	1	0	11	88				
ZNF367	195828	broad.mit.edu	37	9	99157147	99157147	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr9:99157147G>A	ENST00000375256.4	-	3	945	c.649C>T	c.(649-651)Cgt>Tgt	p.R217C		NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	217					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				GTGTGAAGACGCTGATGTGTT	0.388																																						ENST00000375256.4																			0				cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12						c.(649-651)Cgt>Tgt		zinc finger protein 367							98.0	89.0	92.0					9																	99157147		2203	4300	6503	SO:0001583	missense	195828				regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:99157147G>A	AK091289	CCDS6718.1	9q22	2008-05-02			ENSG00000165244	ENSG00000165244		"""Zinc fingers, C2H2-type"""	18320	protein-coding gene	gene with protein product		610160					Standard	NM_153695		Approved	FLJ33970	uc004awf.3	Q7RTV3	OTTHUMG00000020295	ENST00000375256.4:c.649C>T	9.37:g.99157147G>A	ENSP00000364405:p.Arg217Cys						p.R217C	NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN			3	945	-		Acute lymphoblastic leukemia(62;0.0167)	217					Q6Q7C8	Missense_Mutation	SNP	ENST00000375256.4	37	c.649C>T	CCDS6718.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574807	0.86542	.	.	ENSG00000165244	ENST00000375256	T	0.25749	1.78	5.1	5.1	0.69264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.52741	0.1753	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.55490	-0.8133	10	0.87932	D	0	-10.4563	18.7044	0.91632	0.0:0.0:1.0:0.0	.	217;217	Q7RTV3-2;Q7RTV3	.;ZN367_HUMAN	C	217	ENSP00000364405:R217C	ENSP00000364405:R217C	R	-	1	0	ZNF367	98196968	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.315000	0.78998	2.653000	0.90120	0.650000	0.86243	CGT		0.388	ZNF367-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053266.1			16	39	0	0	0	1	0	16	39				
CACNA1E	777	broad.mit.edu	37	1	181701953	181701953	+	Missense_Mutation	SNP	C	C	T	rs370013304		TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr1:181701953C>T	ENST00000367573.2	+	20	2731	c.2731C>T	c.(2731-2733)Cgg>Tgg	p.R911W	CACNA1E_ENST00000357570.5_Missense_Mutation_p.R862W|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R892W|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R892W|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R843W|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R911W|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R518W	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	911					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTTTGAGGACCGGGCCAGGCA	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		17451	0.001		0.0	False		,,,				2504	0.0					ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(2674-2676)Cgg>Tgg		calcium channel, voltage-dependent, R type, alpha 1E subunit		C	TRP/ARG,TRP/ARG,TRP/ARG	1,4251		0,1,2125	43.0	51.0	48.0		2731,2731,2674	3.2	1.0	1		48	0,8470		0,0,4235	no	missense,missense,missense	CACNA1E	NM_000721.3,NM_001205293.1,NM_001205294.1	101,101,101	0,1,6360	TT,TC,CC		0.0,0.0235,0.0079	probably-damaging,probably-damaging,probably-damaging	911/2271,911/2314,892/2252	181701953	1,12721	2126	4235	6361	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181701953C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.2731C>T	1.37:g.181701953C>T	ENSP00000356545:p.Arg911Trp					CACNA1E_ENST00000367573.2_Missense_Mutation_p.R911W|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R843W|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R862W|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R518W|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R911W|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R892W	p.R892W	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			19	2839	+			911					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.2674C>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.324127	0.60634	2.35E-4	0.0	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96685	-4.01;-4.02;-4.02;-4.02;-4.09;-4.03;-4.02	4.13	3.21	0.36854	.	1.199420	0.05924	N	0.633964	D	0.91560	0.7334	N	0.08118	0	0.38757	D	0.954241	D;D;D	0.60575	0.987;0.988;0.987	P;B;P	0.44561	0.453;0.353;0.453	D	0.86162	0.1594	10	0.87932	D	0	.	8.6755	0.34176	0.2943:0.5622:0.1436:0.0	.	892;911;911	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	W	911;892;862;843;518;892;911	ENSP00000356542:R911W;ENSP00000434814:R892W;ENSP00000350183:R862W;ENSP00000351101:R843W;ENSP00000356539:R518W;ENSP00000353222:R892W;ENSP00000356545:R911W	ENSP00000350183:R862W	R	+	1	2	CACNA1E	179968576	0.003000	0.15002	1.000000	0.80357	0.916000	0.54674	-0.023000	0.12456	1.308000	0.44962	-0.324000	0.08512	CGG		0.672	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		11	106	0	0	0	1	0	11	106				
MUC16	94025	broad.mit.edu	37	19	9091432	9091432	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr19:9091432G>T	ENST00000397910.4	-	1	586	c.383C>A	c.(382-384)tCc>tAc	p.S128Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	128	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTCCTTGGGGAACTCAATCC	0.502																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(382-384)tCc>tAc		mucin 16, cell surface associated							103.0	102.0	102.0					19																	9091432		1962	4161	6123	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9091432G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.383C>A	19.37:g.9091432G>T	ENSP00000381008:p.Ser128Tyr						p.S128Y	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	586	-			128			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.383C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.593	-0.083108	0.07141	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	0.91	-0.403	0.12400	.	.	.	.	.	T	0.02083	0.0065	N	0.08118	0	.	.	.	D	0.58268	0.982	P	0.47786	0.557	T	0.46484	-0.9188	8	0.87932	D	0	.	3.8476	0.08942	0.0:0.0:0.5797:0.4203	.	128	B5ME49	.	Y	128	ENSP00000381008:S128Y	ENSP00000381008:S128Y	S	-	2	0	MUC16	8952432	0.000000	0.05858	0.000000	0.03702	0.519000	0.34347	-0.532000	0.06164	-0.078000	0.12730	0.313000	0.20887	TCC		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		9	86	1	0	0.335167	1	0.335167	9	86				
CD40LG	959	broad.mit.edu	37	X	135741436	135741436	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chrX:135741436A>C	ENST00000370629.2	+	5	704	c.648A>C	c.(646-648)aaA>aaC	p.K216N	CD40LG_ENST00000370628.2_Missense_Mutation_p.K195N	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	216					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|immunoglobulin secretion (GO:0048305)|inflammatory response (GO:0006954)|isotype switching (GO:0045190)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of interleukin-12 production (GO:0032735)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CD40 receptor binding (GO:0005174)			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)					GTTCCGCCAAACCTTGCGGGC	0.493									Immune Deficiency with Hyper-IgM																													ENST00000370629.2																			0				endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26						c.(646-648)aaA>aaC		CD40 ligand	Atorvastatin(DB01076)						228.0	214.0	218.0					X																	135741436		2203	4300	6503	SO:0001583	missense	959	Immune Deficiency with Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding	g.chrX:135741436A>C	X67878	CCDS14659.1	Xq26	2014-09-17	2008-08-01	2005-01-14	ENSG00000102245	ENSG00000102245		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11935	protein-coding gene	gene with protein product	"""CD40 antigen ligand"", ""tumor necrosis factor (ligand) superfamily member 5"", ""T-B cell-activating molecule"", ""TNF-related activation protein"", ""hyper-IgM syndrome"""	300386	"""tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome)"""	HIGM1, IMD3, TNFSF5		1427881, 7678782	Standard	NM_000074		Approved	CD40L, TRAP, gp39, hCD40L, CD154	uc004faa.3	P29965	OTTHUMG00000022512	ENST00000370629.2:c.648A>C	X.37:g.135741436A>C	ENSP00000359663:p.Lys216Asn					CD40LG_ENST00000370628.2_Missense_Mutation_p.K195N	p.K216N	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN			5	704	+	Acute lymphoblastic leukemia(192;0.000127)		216						Missense_Mutation	SNP	ENST00000370629.2	37	c.648A>C	CCDS14659.1	.	.	.	.	.	.	.	.	.	.	A	7.014	0.557400	0.13436	.	.	ENSG00000102245	ENST00000370629;ENST00000370628	D;D	0.94758	-3.51;-3.51	5.47	1.45	0.22620	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.415688	0.26623	N	0.023347	D	0.87838	0.6278	N	0.16790	0.44	0.09310	N	1	D;B	0.54207	0.965;0.053	P;B	0.46076	0.503;0.026	T	0.81371	-0.0963	10	0.54805	T	0.06	-7.049	5.3332	0.15944	0.6075:0.1363:0.2562:0.0	.	195;216	Q3L8U2;P29965	.;CD40L_HUMAN	N	216;195	ENSP00000359663:K216N;ENSP00000359662:K195N	ENSP00000359662:K195N	K	+	3	2	CD40LG	135569102	0.000000	0.05858	0.076000	0.20297	0.199000	0.23934	-0.078000	0.11375	-0.091000	0.12440	0.486000	0.48141	AAA		0.493	CD40LG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058501.1	NM_000074		33	168	0	0	0	1	0	33	168				
TMPRSS9	360200	broad.mit.edu	37	19	2422072	2422072	+	Missense_Mutation	SNP	C	C	T	rs138523679		TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr19:2422072C>T	ENST00000332578.3	+	13	2273	c.2273C>T	c.(2272-2274)aCg>aTg	p.T758M		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	758					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)		AGCCCCAGGACGACAGCTGGC	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15124	0.0		0.0	False		,,,				2504	0.0					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.(2272-2274)aCg>aTg		transmembrane protease, serine 9		C	MET/THR	7,4399	12.9+/-30.5	0,7,2196	68.0	65.0	66.0		2273	2.0	0.0	19	dbSNP_134	66	0,8600		0,0,4300	yes	missense	TMPRSS9	NM_182973.1	81	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	benign	758/1060	2422072	7,12999	2203	4300	6503	SO:0001583	missense	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2422072C>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.2273C>T	19.37:g.2422072C>T	ENSP00000330264:p.Thr758Met						p.T758M	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	2273	+			758					Q6ZND6|Q7Z411	Missense_Mutation	SNP	ENST00000332578.3	37	c.2273C>T	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	C	8.576	0.881241	0.17467	0.001589	0.0	ENSG00000178297	ENST00000332578	D	0.89050	-2.46	4.2	1.97	0.26223	.	0.403584	0.20966	N	0.082463	T	0.78020	0.4218	N	0.19112	0.55	0.09310	N	1	B	0.24882	0.113	B	0.18871	0.023	T	0.65524	-0.6147	10	0.42905	T	0.14	.	8.0667	0.30665	0.0:0.7486:0.1595:0.0919	.	758	Q7Z410	TMPS9_HUMAN	M	758	ENSP00000330264:T758M	ENSP00000330264:T758M	T	+	2	0	TMPRSS9	2373072	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	1.291000	0.33330	0.223000	0.20920	-0.424000	0.05967	ACG		0.657	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		9	76	0	0	0	1	0	9	76				
SNX10	29887	broad.mit.edu	37	7	26404670	26404670	+	Silent	SNP	A	A	G			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr7:26404670A>G	ENST00000338523.4	+	5	403	c.216A>G	c.(214-216)caA>caG	p.Q72Q	SNX10_ENST00000409838.1_5'UTR|SNX10_ENST00000396376.1_Silent_p.Q72Q|SNX10_ENST00000409367.1_Silent_p.Q32Q|SNX10_ENST00000446848.2_Silent_p.Q98Q	NM_001199835.1|NM_013322.2	NP_001186764.1|NP_037454.2	Q9Y5X0	SNX10_HUMAN	sorting nexin 10	72	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.|Required for the interaction with ATP6V1D.				cilium assembly (GO:0042384)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|osteoclast differentiation (GO:0030316)|protein localization to centrosome (GO:0071539)|protein localization to cilium (GO:0061512)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extrinsic component of endosome membrane (GO:0031313)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|ATPase binding (GO:0051117)			endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	6						TCCTAAGACAACTGCCAGAAC	0.393											OREG0017908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000338523.4																			0				endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	6						c.(214-216)caA>caG		sorting nexin 10							54.0	56.0	55.0					7																	26404670		2203	4300	6503	SO:0001819	synonymous_variant	29887				cell communication|endosome organization|protein transport	extrinsic to endosome membrane	1-phosphatidylinositol binding	g.chr7:26404670A>G	AF121860	CCDS5399.1, CCDS56470.1	7p15.2	2008-05-22			ENSG00000086300	ENSG00000086300		"""Sorting nexins"""	14974	protein-coding gene	gene with protein product		614780				17012226	Standard	NM_013322		Approved		uc010kuu.3	Q9Y5X0	OTTHUMG00000023650	ENST00000338523.4:c.216A>G	7.37:g.26404670A>G			OREG0017908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	786	SNX10_ENST00000446848.2_Silent_p.Q98Q|SNX10_ENST00000396376.1_Silent_p.Q72Q|SNX10_ENST00000409838.1_5'UTR|SNX10_ENST00000409367.1_Silent_p.Q32Q	p.Q72Q	NM_001199835.1|NM_013322.2	NP_001186764.1|NP_037454.2	Q9Y5X0	SNX10_HUMAN			5	403	+			72			PX.		E9PFH5|Q8IYT5	Silent	SNP	ENST00000338523.4	37	c.216A>G	CCDS5399.1																																																																																				0.393	SNX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214120.1			3	49	0	0	0	1	0	3	49				
ADAMTS7	11173	broad.mit.edu	37	15	79051886	79051886	+	Silent	SNP	G	G	A			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr15:79051886G>A	ENST00000388820.4	-	24	5148	c.4938C>T	c.(4936-4938)tgC>tgT	p.C1646C		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1646	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.C1646C(4)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GCAGCGTCTCGCAGAACCCGA	0.701																																						ENST00000388820.4																			4	Substitution - coding silent(4)	p.C1646C(4)	prostate(2)|lung(1)|kidney(1)	NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(4936-4938)tgC>tgT		ADAM metallopeptidase with thrombospondin type 1 motif, 7							10.0	11.0	11.0					15																	79051886		2150	4223	6373	SO:0001819	synonymous_variant	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79051886G>A	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.4938C>T	15.37:g.79051886G>A							p.C1646C	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			24	5148	-			1646			PLAC.		Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	c.4938C>T	CCDS32303.1																																																																																				0.701	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		5	24	0	0	0	1	0	5	24				
MYO1B	4430	broad.mit.edu	37	2	192250758	192250758	+	Missense_Mutation	SNP	A	A	G	rs199738105		TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr2:192250758A>G	ENST00000392318.3	+	16	1749	c.1502A>G	c.(1501-1503)aAt>aGt	p.N501S	MYO1B_ENST00000304164.4_Missense_Mutation_p.N501S|MYO1B_ENST00000392316.1_Missense_Mutation_p.N501S|MYO1B_ENST00000339514.4_Missense_Mutation_p.N501S	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	501	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			CGGTTCCTCAATGACACGTCT	0.532																																						ENST00000392318.3																			0				NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55						c.(1501-1503)aAt>aGt		myosin IB		A	SER/ASN,SER/ASN,SER/ASN	0,4406		0,0,2203	213.0	195.0	201.0		1502,1502,1502	5.3	0.9	2		201	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	MYO1B	NM_001130158.1,NM_001161819.1,NM_012223.3	46,46,46	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign,benign,benign	501/1137,501/1137,501/1079	192250758	1,13005	2203	4300	6503	SO:0001583	missense	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192250758A>G	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.1502A>G	2.37:g.192250758A>G	ENSP00000376132:p.Asn501Ser					MYO1B_ENST00000339514.4_Missense_Mutation_p.N501S|MYO1B_ENST00000304164.4_Missense_Mutation_p.N501S|MYO1B_ENST00000392316.1_Missense_Mutation_p.N501S	p.N501S	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		16	1749	+			501			Myosin head-like.		O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	c.1502A>G	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	A	5.629	0.300794	0.10678	0.0	1.16E-4	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316	T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54	5.33	5.33	0.75918	Myosin head, motor domain (2);	0.050342	0.85682	D	0.000000	T	0.33206	0.0855	N	0.00399	-1.545	0.80722	D	1	B;B;B	0.13594	0.008;0.008;0.006	B;B;B	0.15052	0.012;0.012;0.005	T	0.45323	-0.9269	10	0.07325	T	0.83	.	11.5826	0.50900	0.851:0.149:0.0:0.0	.	501;501;501	B0I1S9;O43795;O43795-2	.;MYO1B_HUMAN;.	S	501	ENSP00000341903:N501S;ENSP00000376132:N501S;ENSP00000306382:N501S;ENSP00000376130:N501S	ENSP00000306382:N501S	N	+	2	0	MYO1B	191959003	0.997000	0.39634	0.922000	0.36590	0.819000	0.46315	3.761000	0.55242	2.148000	0.66965	0.472000	0.43445	AAT		0.532	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		22	254	0	0	0	1	0	22	254				
MMAB	326625	broad.mit.edu	37	12	109998858	109998858	+	Missense_Mutation	SNP	G	G	A	rs376128990		TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr12:109998858G>A	ENST00000545712.2	-	7	964	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	MMAB_ENST00000266839.5_Missense_Mutation_p.R100W|MMAB_ENST00000540016.1_Missense_Mutation_p.R139W	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	191			R -> W (in MMAB). {ECO:0000269|PubMed:12471062, ECO:0000269|PubMed:15781192}.		cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|cob(I)yrinic acid a,c-diamide adenosyltransferase activity (GO:0008817)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTCTCGGCCCGGCGGCACACG	0.657																																						ENST00000545712.2																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6	GRCh37	CM023191	MMAB	M		c.(571-573)Cgg>Tgg		methylmalonic aciduria (cobalamin deficiency) cblB type	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	G	TRP/ARG	0,4406		0,0,2203	36.0	38.0	38.0		571	3.0	1.0	12		38	1,8597	1.2+/-3.3	0,1,4298	no	missense	MMAB	NM_052845.3	101	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	191/251	109998858	1,13003	2203	4299	6502	SO:0001583	missense	326625				cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity	g.chr12:109998858G>A	AF550404	CCDS9131.1	12q24	2014-07-18	2005-07-11		ENSG00000139428	ENSG00000139428			19331	protein-coding gene	gene with protein product	"""ATP:cob(I)alamin adenosyltransferase"", ""cilia and flagella associated protein 23"""	607568	"""methylmalonic aciduria (cobalamin deficiency) type B"""			12471062, 12514191	Standard	NM_052845		Approved	cblB, CFAP23	uc001tou.3	Q96EY8	OTTHUMG00000169255	ENST00000545712.2:c.571C>T	12.37:g.109998858G>A	ENSP00000445920:p.Arg191Trp					MMAB_ENST00000266839.5_Missense_Mutation_p.R100W|MMAB_ENST00000540016.1_Missense_Mutation_p.R139W	p.R191W	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN			7	964	-			191		R -> W (in MMAB).			C5HU05|Q9BSH0	Missense_Mutation	SNP	ENST00000545712.2	37	c.571C>T	CCDS9131.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.048889	0.55110	0.0	1.16E-4	ENSG00000139428	ENST00000545712;ENST00000266839	D;D	0.97066	-4.23;-4.23	4.91	2.99	0.34606	Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase, PduO-type, N-terminal (2);Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase-like (2);Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase, EutT/PduO type (1);	0.125819	0.51477	D	0.000093	D	0.99045	0.9673	H	0.99286	4.5	0.49798	D	0.999824	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98370	1.0553	10	0.87932	D	0	-6.2684	11.5032	0.50450	0.0:0.0:0.5602:0.4398	.	100;191;191	B4DHP4;B2R6J3;Q96EY8	.;.;MMAB_HUMAN	W	191;100	ENSP00000445920:R191W;ENSP00000266839:R100W	ENSP00000266839:R100W	R	-	1	2	MMAB	108483241	1.000000	0.71417	1.000000	0.80357	0.576000	0.36127	1.702000	0.37836	1.286000	0.44565	-0.158000	0.13435	CGG		0.657	MMAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403128.2			8	48	0	0	0	1	0	8	48				
ATAD5	79915	broad.mit.edu	37	17	29219776	29219776	+	Silent	SNP	C	C	T	rs376240524		TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr17:29219776C>T	ENST00000321990.4	+	20	4788	c.4410C>T	c.(4408-4410)tcC>tcT	p.S1470S		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1470					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				ACATTTTTTCCCCATCTGAAG	0.328																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(4408-4410)tcC>tcT		ATPase family, AAA domain containing 5							152.0	150.0	151.0					17																	29219776		2203	4300	6503	SO:0001819	synonymous_variant	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29219776C>T		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.4410C>T	17.37:g.29219776C>T							p.S1470S	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			20	4788	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	1470					Q05DH0|Q69YR6|Q9H9I1	Silent	SNP	ENST00000321990.4	37	c.4410C>T	CCDS11260.1																																																																																				0.328	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		5	121	0	0	0	1	0	5	121				
OR4K5	79317	broad.mit.edu	37	14	20389008	20389008	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr14:20389008G>T	ENST00000315915.4	+	1	268	c.243G>T	c.(241-243)atG>atT	p.M81I		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M81I(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCCCTAAAATGATTGCAGATT	0.438																																						ENST00000315915.4																			1	Substitution - Missense(1)	p.M81I(1)	lung(1)	central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(241-243)atG>atT		olfactory receptor, family 4, subfamily K, member 5							283.0	304.0	297.0					14																	20389008		2203	4300	6503	SO:0001583	missense	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389008G>T	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.243G>T	14.37:g.20389008G>T	ENSP00000319511:p.Met81Ile						p.M81I	NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	268	+	all_cancers(95;0.00108)		81					Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	c.243G>T	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	15.88	2.964055	0.53507	.	.	ENSG00000176281	ENST00000315915	T	0.05513	3.43	4.31	4.31	0.51392	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000012	T	0.20129	0.0484	M	0.71871	2.18	0.09310	N	1	D	0.64830	0.994	P	0.60173	0.87	T	0.01436	-1.1355	10	0.72032	D	0.01	.	14.2937	0.66298	0.0:0.0:1.0:0.0	.	81	Q8NGD3	OR4K5_HUMAN	I	81	ENSP00000319511:M81I	ENSP00000319511:M81I	M	+	3	0	OR4K5	19458848	0.028000	0.19301	0.837000	0.33122	0.875000	0.50365	0.724000	0.25954	2.212000	0.71576	0.655000	0.94253	ATG		0.438	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		16	200	1	0	1.15088e-07	1	1.30034e-07	16	200				
CDKN2A	1029	broad.mit.edu	37	9	21968242	21968242	+	Splice_Site	SNP	C	C	T			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr9:21968242C>T	ENST00000304494.5	-	3	728		c.e3-1		RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Splice_Site|CDKN2A_ENST00000579755.1_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(6)|p.0(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCGGGGATGTCTGCAGAGGGC	0.542		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000579755.1		17																	1322	Whole gene deletion(1316)|Unknown(6)	p.0?(1315)|p.?(6)|p.0(1)	haematopoietic_and_lymphoid_tissue(277)|skin(166)|central_nervous_system(163)|lung(140)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(51)|oesophagus(48)|upper_aerodigestive_tract(47)|ovary(33)|breast(30)|kidney(29)|pancreas(29)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199						c.e3-1		cyclin-dependent kinase inhibitor 2A							94.0	95.0	95.0					9																	21968242		2203	4300	6503	SO:0001630	splice_region_variant	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21968242C>T	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.458-1G>A	9.37:g.21968242C>T		HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000498628.2_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000304494.5_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000578845.2_Splice_Site				P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	3	793	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)						A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Splice_Site	SNP	ENST00000304494.5	37		CCDS6510.1	.	.	.	.	.	.	.	.	.	.	C	9.858	1.195455	0.22037	.	.	ENSG00000147889	ENST00000304494	.	.	.	3.2	3.2	0.36748	.	.	.	.	.	.	.	.	.	.	.	0.50467	D	0.99987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1502	0.42788	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDKN2A	21958242	0.325000	0.24660	0.095000	0.20976	0.001000	0.01503	0.291000	0.18994	2.126000	0.65437	0.650000	0.86243	.		0.542	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077	Intron	7	38	0	0	0	1	0	7	38				
ZNF730	100129543	broad.mit.edu	37	19	23329013	23329013	+	Silent	SNP	T	T	A			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr19:23329013T>A	ENST00000597761.2	+	4	1366	c.1167T>A	c.(1165-1167)atT>atA	p.I389I		NM_001277403.1	NP_001264332.1	Q6ZMV8	ZN730_HUMAN	zinc finger protein 730	389					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						ATAAGATAATTCATACTGTAG	0.338																																						ENST00000597761.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						c.(1165-1167)atT>atA		zinc finger protein 730																																				SO:0001819	synonymous_variant	100129543							g.chr19:23329013T>A	AK131472	CCDS59371.1	19p12	2013-01-08			ENSG00000183850	ENSG00000183850		"""Zinc fingers, C2H2-type"", ""-"""	32470	protein-coding gene	gene with protein product							Standard	NM_001277403		Approved		uc031rkc.1	Q6ZMV8		ENST00000597761.2:c.1167T>A	19.37:g.23329013T>A							p.I389I	NM_001277403.1	NP_001264332.1					4	1366	+									Silent	SNP	ENST00000597761.2	37	c.1167T>A	CCDS59371.1																																																																																				0.338	ZNF730-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465737.2	XM_001719792		5	16	0	0	0	1	0	5	16				
GRXCR2	643226	broad.mit.edu	37	5	145252448	145252448	+	Silent	SNP	G	G	A	rs141618183	byFrequency	TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr5:145252448G>A	ENST00000377976.1	-	1	83	c.84C>T	c.(82-84)agC>agT	p.S28S		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	28						cell projection (GO:0042995)				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						ATACTCGACCGCTGTAGGAGG	0.468																																						ENST00000377976.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						c.(82-84)agC>agT		glutaredoxin, cysteine rich 2		G		3,4403	6.2+/-15.9	0,3,2200	141.0	139.0	140.0		84	-8.3	0.7	5	dbSNP_134	140	0,8600		0,0,4300	no	coding-synonymous	GRXCR2	NM_001080516.1		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		28/249	145252448	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	643226							g.chr5:145252448G>A		CCDS34263.1	5q32	2014-03-14			ENSG00000204928	ENSG00000204928			33862	protein-coding gene	gene with protein product		615762				24619944	Standard	NM_001080516		Approved	DFNB101	uc003lns.1	A6NFK2	OTTHUMG00000163417	ENST00000377976.1:c.84C>T	5.37:g.145252448G>A							p.S28S	NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN			1	83	-			28						Silent	SNP	ENST00000377976.1	37	c.84C>T	CCDS34263.1																																																																																				0.468	GRXCR2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373289.2			12	150	0	0	0	1	0	12	150				
PGM5	5239	broad.mit.edu	37	9	71098912	71098912	+	Missense_Mutation	SNP	C	C	T	rs200812025		TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr9:71098912C>T	ENST00000396396.1	+	9	1656	c.1427C>T	c.(1426-1428)aCg>aTg	p.T476M		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	476					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						GTGGCGAAGACGGATAGTTTT	0.502																																						ENST00000396396.1																			0				endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						c.(1426-1428)aCg>aTg		phosphoglucomutase 5		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	166.0	139.0	148.0		1427	5.8	1.0	9		148	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PGM5	NM_021965.3	81	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	476/568	71098912	2,13004	2203	4300	6503	SO:0001583	missense	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:71098912C>T	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1427C>T	9.37:g.71098912C>T	ENSP00000379678:p.Thr476Met						p.T476M	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN			9	1656	+			476					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	c.1427C>T	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096749	0.56075	2.27E-4	1.16E-4	ENSG00000154330	ENST00000396396	T	0.43294	0.95	5.75	5.75	0.90469	.	0.153716	0.64402	D	0.000018	T	0.32734	0.0839	N	0.24115	0.695	0.47737	D	0.999505	P	0.45634	0.863	B	0.40659	0.336	T	0.16453	-1.0402	10	0.66056	D	0.02	.	14.9509	0.71074	0.0:0.8565:0.1435:0.0	.	476	Q15124	PGM5_HUMAN	M	476	ENSP00000379678:T476M	ENSP00000379678:T476M	T	+	2	0	PGM5	70288732	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.874000	0.69652	2.716000	0.92895	0.655000	0.94253	ACG		0.502	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		12	111	0	0	0	1	0	12	111				
KIF1B	23095	broad.mit.edu	37	1	10435384	10435384	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr1:10435384G>T	ENST00000377086.1	+	48	5563	c.5361G>T	c.(5359-5361)atG>atT	p.M1787I	KIF1B_ENST00000377081.1_Missense_Mutation_p.M1787I|KIF1B_ENST00000263934.6_Missense_Mutation_p.M1741I			O60333	KIF1B_HUMAN	kinesin family member 1B	1787	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)		ACAAAGACATGAACGACTGGT	0.438																																						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.(5359-5361)atG>atT		kinesin family member 1B							124.0	114.0	118.0					1																	10435384		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.chr1:10435384G>T	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.5361G>T	1.37:g.10435384G>T	ENSP00000366290:p.Met1787Ile					KIF1B_ENST00000377081.1_Missense_Mutation_p.M1787I|KIF1B_ENST00000263934.6_Missense_Mutation_p.M1741I	p.M1787I			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)	48	5563	+	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)	1787			PH.		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.5361G>T		.	.	.	.	.	.	.	.	.	.	G	27.2	4.811118	0.90707	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.14266	2.52;2.52;2.52	5.38	5.38	0.77491	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.224253	0.52532	D	0.000079	T	0.33000	0.0848	L	0.50919	1.6	0.80722	D	1	P;D;D;D;P;P	0.62365	0.938;0.985;0.991;0.964;0.828;0.656	P;D;D;D;P;P	0.77004	0.791;0.977;0.989;0.989;0.542;0.584	T	0.00763	-1.1576	10	0.30078	T	0.28	.	19.1601	0.93527	0.0:0.0:1.0:0.0	.	1773;1747;1787;1761;1787;1741	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	I	1787;1741;1787;1787	ENSP00000263934:M1741I;ENSP00000366290:M1787I;ENSP00000366284:M1787I	ENSP00000263934:M1741I	M	+	3	0	KIF1B	10357971	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	9.864000	0.99589	2.520000	0.84964	0.585000	0.79938	ATG		0.438	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			8	99	1	0	2.17888e-05	1	2.34028e-05	8	99				
BDKRB2	624	broad.mit.edu	37	14	96706870	96706870	+	Missense_Mutation	SNP	G	G	A	rs368495707		TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr14:96706870G>A	ENST00000306005.3	+	3	401	c.205G>A	c.(205-207)Gtg>Atg	p.V69M	BDKRB2_ENST00000554311.1_Missense_Mutation_p.V69M|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000539359.1_Missense_Mutation_p.V42M|BDKRB2_ENST00000542454.2_Missense_Mutation_p.V42M	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	69					arachidonic acid secretion (GO:0050482)|blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator (GO:1902239)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of vascular permeability (GO:0043114)|regulation of vasoconstriction (GO:0019229)|response to salt stress (GO:0009651)|smooth muscle contraction (GO:0006939)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|phosphatidylinositol phospholipase C activity (GO:0004435)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)	Icatibant(DB06196)	GGTGCTGTTCGTGCTGGCCAC	0.612																																						ENST00000542454.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24						c.(124-126)Gtg>Atg		bradykinin receptor B2		G	MET/VAL	0,4406		0,0,2203	100.0	104.0	102.0		205	-6.5	0.0	14		102	1,8599	1.2+/-3.3	0,1,4299	no	missense	BDKRB2	NM_000623.3	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	69/392	96706870	1,13005	2203	4300	6503	SO:0001583	missense	624				arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding	g.chr14:96706870G>A	S56772	CCDS9942.1	14q32.1-q32.2	2012-08-08				ENSG00000168398		"""GPCR / Class A : Bradykinin receptors"""	1030	protein-coding gene	gene with protein product		113503				7916737	Standard	NM_000623		Approved	BK-2	uc010avm.1	P30411		ENST00000306005.3:c.205G>A	14.37:g.96706870G>A	ENSP00000307713:p.Val69Met					BDKRB2_ENST00000539359.1_Missense_Mutation_p.V42M|BDKRB2_ENST00000554311.1_Missense_Mutation_p.V69M|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000306005.3_Missense_Mutation_p.V69M	p.V42M			P30411	BKRB2_HUMAN		COAD - Colon adenocarcinoma(157;0.226)	3	3212	+		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)	69						Missense_Mutation	SNP	ENST00000306005.3	37	c.124G>A	CCDS9942.1	.	.	.	.	.	.	.	.	.	.	G	7.372	0.627072	0.14257	0.0	1.16E-4	ENSG00000168398	ENST00000542454;ENST00000554311;ENST00000306005;ENST00000539359	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	4.68	-6.47	0.01902	.	0.504438	0.20359	N	0.093885	T	0.11879	0.0289	N	0.08118	0	0.09310	N	1	P	0.43857	0.819	B	0.32342	0.144	T	0.30060	-0.9991	10	0.87932	D	0	-2.0276	2.7356	0.05239	0.3901:0.2265:0.2929:0.0905	.	69	P30411	BKRB2_HUMAN	M	42;69;69;42	ENSP00000439459:V42M;ENSP00000450482:V69M;ENSP00000307713:V69M;ENSP00000438376:V42M	ENSP00000307713:V69M	V	+	1	0	BDKRB2	95776623	0.427000	0.25514	0.025000	0.17156	0.174000	0.22865	0.321000	0.19558	-1.372000	0.02137	0.561000	0.74099	GTG		0.612	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413294.1			23	140	0	0	0	1	0	23	140				
LRRC43	254050	broad.mit.edu	37	12	122677440	122677440	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr12:122677440A>T	ENST00000339777.4	+	7	1266	c.1238A>T	c.(1237-1239)gAg>gTg	p.E413V	LRRC43_ENST00000425921.1_Missense_Mutation_p.E228V	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	413	Glu-rich.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GGAGAGTCGGAGCTGTCTGTC	0.567																																						ENST00000339777.4																			0				NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1237-1239)gAg>gTg		leucine rich repeat containing 43							89.0	95.0	93.0					12																	122677440		2100	4245	6345	SO:0001583	missense	254050							g.chr12:122677440A>T	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1238A>T	12.37:g.122677440A>T	ENSP00000344233:p.Glu413Val					LRRC43_ENST00000425921.1_Missense_Mutation_p.E228V	p.E413V	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	7	1266	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		413			Glu-rich.		Q6ZVT9	Missense_Mutation	SNP	ENST00000339777.4	37	c.1238A>T	CCDS45001.1	.	.	.	.	.	.	.	.	.	.	A	12.36	1.913785	0.33815	.	.	ENSG00000158113	ENST00000339777;ENST00000289014;ENST00000425921	T;T	0.57752	0.38;0.81	4.82	1.02	0.19986	.	2.196060	0.02109	N	0.054638	T	0.45498	0.1345	L	0.48642	1.525	0.09310	N	1	P	0.36392	0.551	B	0.34779	0.189	T	0.36311	-0.9753	10	0.72032	D	0.01	-9.3247	3.4174	0.07381	0.5447:0.0:0.0977:0.3576	.	413	Q8N309	LRC43_HUMAN	V	413;284;228	ENSP00000344233:E413V;ENSP00000416628:E228V	ENSP00000289014:E284V	E	+	2	0	LRRC43	121243393	0.772000	0.28567	0.006000	0.13384	0.001000	0.01503	1.073000	0.30691	0.248000	0.21435	-0.336000	0.08194	GAG		0.567	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		9	48	0	0	0	1	0	9	48				
FZD1	8321	broad.mit.edu	37	7	90895444	90895444	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr7:90895444T>G	ENST00000287934.2	+	1	1662	c.1249T>G	c.(1249-1251)Tcc>Gcc	p.S417A		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	417					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CATGGCCAGCTCCATCTGGTG	0.602																																						ENST00000287934.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1249-1251)Tcc>Gcc		frizzled family receptor 1							92.0	86.0	88.0					7																	90895444		2203	4300	6503	SO:0001583	missense	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90895444T>G	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1249T>G	7.37:g.90895444T>G	ENSP00000287934:p.Ser417Ala						p.S417A	NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		1	1662	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		417					A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	ENST00000287934.2	37	c.1249T>G	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	T	19.31	3.802224	0.70682	.	.	ENSG00000157240	ENST00000287934	D	0.82619	-1.63	4.18	4.18	0.49190	GPCR, family 2-like (1);	0.000000	0.52532	D	0.000062	D	0.89746	0.6804	M	0.74258	2.255	0.52501	D	0.999954	D	0.69078	0.997	D	0.72075	0.976	D	0.90824	0.4711	10	0.66056	D	0.02	.	13.4011	0.60883	0.0:0.0:0.0:1.0	.	417	Q9UP38	FZD1_HUMAN	A	417	ENSP00000287934:S417A	ENSP00000287934:S417A	S	+	1	0	FZD1	90733380	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.806000	0.86020	1.748000	0.51833	0.334000	0.21626	TCC		0.602	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		8	63	0	0	0	1	0	8	63				
KIAA0556	23247	broad.mit.edu	37	16	27777718	27777718	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr16:27777718C>T	ENST00000261588.4	+	20	3917	c.3898C>T	c.(3898-3900)Cgc>Tgc	p.R1300C		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1300						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GGTCACGATCCGCCTGGACAG	0.582																																						ENST00000261588.4																			0				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(3898-3900)Cgc>Tgc		KIAA0556							101.0	88.0	92.0					16																	27777718		2197	4300	6497	SO:0001583	missense	23247							g.chr16:27777718C>T	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.3898C>T	16.37:g.27777718C>T	ENSP00000261588:p.Arg1300Cys						p.R1300C	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			20	3917	+			1300					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.3898C>T	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	C	9.197	1.027627	0.19512	.	.	ENSG00000047578	ENST00000261588	T	0.14766	2.48	5.44	3.15	0.36227	.	0.613822	0.17720	N	0.164266	T	0.10895	0.0266	L	0.40543	1.245	0.28991	N	0.888046	B	0.12630	0.006	B	0.09377	0.004	T	0.09509	-1.0671	10	0.36615	T	0.2	.	7.8926	0.29686	0.1335:0.707:0.0:0.1595	.	1300	O60303	K0556_HUMAN	C	1300	ENSP00000261588:R1300C	ENSP00000261588:R1300C	R	+	1	0	KIAA0556	27685219	0.233000	0.23772	0.985000	0.45067	0.418000	0.31294	0.195000	0.17155	1.307000	0.44944	-0.216000	0.12614	CGC		0.582	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		11	78	0	0	0	1	0	11	78				
GRK7	131890	broad.mit.edu	37	3	141535597	141535597	+	Missense_Mutation	SNP	C	C	T	rs374742928		TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr3:141535597C>T	ENST00000264952.2	+	4	1504	c.1367C>T	c.(1366-1368)aCg>aTg	p.T456M		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	456	AGC-kinase C-terminal.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						TTCTTTAAAACGATCAACTTT	0.423																																						ENST00000264952.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1366-1368)aCg>aTg		G protein-coupled receptor kinase 7		C	MET/THR	3,4403	8.1+/-20.4	0,3,2200	98.0	100.0	99.0		1367	5.4	1.0	3		99	0,8600		0,0,4300	no	missense	GRK7	NM_139209.2	81	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging	456/554	141535597	3,13003	2203	4300	6503	SO:0001583	missense	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141535597C>T		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.1367C>T	3.37:g.141535597C>T	ENSP00000264952:p.Thr456Met						p.T456M	NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN			4	1504	+			456			AGC-kinase C-terminal.			Missense_Mutation	SNP	ENST00000264952.2	37	c.1367C>T	CCDS3120.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747897	0.69533	6.81E-4	0.0	ENSG00000114124	ENST00000264952	T	0.25250	1.81	5.4	5.4	0.78164	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.436137	0.23766	N	0.044763	T	0.39436	0.1078	L	0.56769	1.78	0.32654	N	0.518982	D	0.76494	0.999	P	0.50490	0.642	T	0.51474	-0.8701	10	0.62326	D	0.03	-17.6844	19.1796	0.93617	0.0:1.0:0.0:0.0	.	456	Q8WTQ7	GRK7_HUMAN	M	456	ENSP00000264952:T456M	ENSP00000264952:T456M	T	+	2	0	GRK7	143018287	0.357000	0.24938	1.000000	0.80357	0.939000	0.58152	2.481000	0.45215	2.537000	0.85549	0.467000	0.42956	ACG		0.423	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		12	136	0	0	0	1	0	12	136				
HAUS6	54801	broad.mit.edu	37	9	19102605	19102605	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr9:19102605C>A	ENST00000380502.3	-	1	512	c.45G>T	c.(43-45)tgG>tgT	p.W15C		NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	15					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCAGATACATCCAGAGATGCT	0.637																																						ENST00000380502.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(43-45)tgG>tgT		HAUS augmin-like complex, subunit 6							28.0	29.0	29.0					9																	19102605		2203	4300	6503	SO:0001583	missense	54801				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		g.chr9:19102605C>A	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.45G>T	9.37:g.19102605C>A	ENSP00000369871:p.Trp15Cys						p.W15C	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN			1	512	-			15					B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	c.45G>T	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768035	0.69878	.	.	ENSG00000147874	ENST00000380502	T	0.46063	0.88	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.68311	0.2987	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71682	-0.4519	10	0.87932	D	0	-5.0903	18.3654	0.90389	0.0:1.0:0.0:0.0	.	15	Q7Z4H7	HAUS6_HUMAN	C	15	ENSP00000369871:W15C	ENSP00000369871:W15C	W	-	3	0	HAUS6	19092605	1.000000	0.71417	1.000000	0.80357	0.409000	0.31022	4.122000	0.57910	2.752000	0.94435	0.655000	0.94253	TGG		0.637	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		6	42	1	0	0.0293803	1	0.029722	6	42				
ABL1	25	broad.mit.edu	37	9	133755972	133755972	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr9:133755972G>T	ENST00000318560.5	+	10	1980	c.1599G>T	c.(1597-1599)agG>agT	p.R533S		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	533					actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	CCAAGACGAGGACCTCCAGGA	0.602			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"""T, Mis"""	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"""BCR, ETV6, NUP214"""		"""CML, ALL, T-ALL"""		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(1597-1599)agG>agT		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						80.0	68.0	72.0					9																	133755972		2203	4300	6503	SO:0001583	missense	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133755972G>T	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1599G>T	9.37:g.133755972G>T	ENSP00000323315:p.Arg533Ser						p.R533S	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	10	1980	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	533					A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	c.1599G>T	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.757558	0.89843	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.15139	2.45;2.45	5.87	-3.19	0.05171	.	0.000000	0.85682	D	0.000000	T	0.30324	0.0761	M	0.65975	2.015	0.58432	D	0.999999	D;D	0.55605	0.972;0.972	P;P	0.58331	0.837;0.771	T	0.10590	-1.0623	10	0.59425	D	0.04	.	14.452	0.67392	0.3589:0.0:0.6411:0.0	.	533;570	P00519;Q59FK4	ABL1_HUMAN;.	S	348;552;533	ENSP00000361423:R552S;ENSP00000323315:R533S	ENSP00000323315:R533S	R	+	3	2	ABL1	132745793	0.889000	0.30405	0.633000	0.29310	0.979000	0.70002	-0.066000	0.11598	-0.607000	0.05738	0.655000	0.94253	AGG		0.602	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		13	39	1	0	9.05144e-12	1	1.04997e-11	13	39				
GRIN2A	2903	broad.mit.edu	37	16	10032120	10032120	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr16:10032120C>T	ENST00000396573.2	-	4	1012	c.703G>A	c.(703-705)Gag>Aag	p.E235K	GRIN2A_ENST00000330684.3_Missense_Mutation_p.E235K|GRIN2A_ENST00000535259.1_Missense_Mutation_p.E78K|GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000396575.2_Missense_Mutation_p.E235K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.E235K|GRIN2A_ENST00000404927.2_Missense_Mutation_p.E235K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	235					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AGAACAGCCTCGTCTTTGGAA	0.507																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(703-705)Gag>Aag		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						93.0	83.0	86.0					16																	10032120		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:10032120C>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.703G>A	16.37:g.10032120C>T	ENSP00000379818:p.Glu235Lys					GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000562109.1_Missense_Mutation_p.E235K|GRIN2A_ENST00000535259.1_Missense_Mutation_p.E78K|GRIN2A_ENST00000404927.2_Missense_Mutation_p.E235K|GRIN2A_ENST00000396575.2_Missense_Mutation_p.E235K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.E235K	p.E235K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			4	1012	-			235					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.703G>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	c	31	5.104156	0.94245	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	D;D;D;D;D	0.94280	-3.39;-3.39;-3.39;-3.39;-3.39	5.2	5.2	0.72013	Extracellular ligand-binding receptor (1);	0.112015	0.64402	D	0.000007	D	0.96846	0.8970	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	0.993;0.999;1.0	P;D;D	0.85130	0.733;0.926;0.997	D	0.96739	0.9545	9	.	.	.	.	18.0961	0.89490	0.0:1.0:0.0:0.0	.	78;235;235	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	K	235;235;78;235;235	ENSP00000379818:E235K;ENSP00000385872:E235K;ENSP00000441572:E78K;ENSP00000332549:E235K;ENSP00000379820:E235K	.	E	-	1	0	GRIN2A	9939621	1.000000	0.71417	0.975000	0.42487	0.849000	0.48306	7.665000	0.83852	2.582000	0.87167	0.561000	0.74099	GAG		0.507	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			7	61	0	0	0	1	0	7	61				
MYO9A	4649	broad.mit.edu	37	15	72142383	72142383	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr15:72142383G>C	ENST00000356056.5	-	38	7179	c.6707C>G	c.(6706-6708)aCt>aGt	p.T2236S	MYO9A_ENST00000564571.1_Missense_Mutation_p.T2236S|MYO9A_ENST00000424560.1_Missense_Mutation_p.T2307S|MYO9A_ENST00000444904.1_Missense_Mutation_p.T2217S	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2236	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.|Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTACGTGGTAGTCTTACTGAT	0.468																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(6706-6708)aCt>aGt		myosin IXA							307.0	245.0	266.0					15																	72142383		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72142383G>C	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.6707C>G	15.37:g.72142383G>C	ENSP00000348349:p.Thr2236Ser					MYO9A_ENST00000424560.1_Missense_Mutation_p.T2307S|MYO9A_ENST00000564571.1_Missense_Mutation_p.T2236S|MYO9A_ENST00000444904.1_Missense_Mutation_p.T2217S	p.T2236S	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			38	7179	-			2236			Rho-GAP.|Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.6707C>G	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	32	5.109865	0.94292	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	T;T;T	0.40476	1.03;1.03;1.03	5.93	5.93	0.95920	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	.	.	.	.	T	0.54743	0.1877	N	0.26162	0.8	0.80722	D	1	D;D	0.89917	0.965;1.0	P;D	0.83275	0.595;0.996	T	0.49881	-0.8892	9	0.39692	T	0.17	.	20.3422	0.98769	0.0:0.0:1.0:0.0	.	2236;2000	B2RTY4;B2RTY4-5	MYO9A_HUMAN;.	S	2236;2307;2217	ENSP00000348349:T2236S;ENSP00000399162:T2307S;ENSP00000398250:T2217S	ENSP00000348349:T2236S	T	-	2	0	MYO9A	69929437	1.000000	0.71417	0.990000	0.47175	0.983000	0.72400	9.835000	0.99442	2.810000	0.96702	0.655000	0.94253	ACT		0.468	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		5	69	0	0	0	1	0	5	69				
MYLK	4638	broad.mit.edu	37	3	123451756	123451756	+	Silent	SNP	G	G	T			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr3:123451756G>T	ENST00000475616.1	-	8	1502	c.1503C>A	c.(1501-1503)acC>acA	p.T501T	MYLK_ENST00000360772.3_Silent_p.T501T|MYLK_ENST00000360304.3_Silent_p.T501T|MYLK_ENST00000359169.1_Silent_p.T501T|MYLK_ENST00000346322.5_Intron			Q15746	MYLK_HUMAN	myosin light chain kinase	501	Ig-like C2-type 3.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCACTTGGAGGGTCCAGCTAC	0.567																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(1501-1503)acC>acA		myosin light chain kinase							72.0	57.0	62.0					3																	123451756		2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123451756G>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.1503C>A	3.37:g.123451756G>T						MYLK_ENST00000475616.1_Silent_p.T501T|MYLK_ENST00000360304.3_Silent_p.T501T|MYLK_ENST00000359169.1_Silent_p.T501T|MYLK_ENST00000346322.5_Intron	p.T501T			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	12	1881	-		Lung NSC(201;0.0496)	501			Ig-like C2-type 3.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.1503C>A	CCDS46896.1																																																																																				0.567	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		17	44	1	0	0.000958276	1	0.00101671	17	44				
FOXC1	2296	broad.mit.edu	37	6	1611463	1611465	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr6:1611463_1611465delCAG	ENST00000380874.2	+	1	783_785	c.783_785delCAG	c.(781-786)gacagc>gac	p.S266del		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	266	Poly-Ser.				artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		AGAGCCCCGACAGCAGCAGCAGC	0.793																																					Pancreas(133;719 1821 3197 26645 35015)	ENST00000380874.2																			0				large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						c.(781-786)gac>ga		forkhead box C1				13,1211		4,5,603						1.5	1.0			2	36,3462		6,24,1719	no	coding	FOXC1	NM_001453.2		10,29,2322	A1A1,A1R,RR		1.0292,1.0621,1.0377				49,4673				SO:0001651	inframe_deletion	2296				anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr6:1611463_1611465delCAG	AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"""Forkhead boxes"""	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.783_785delCAG	6.37:g.1611472_1611474delCAG	ENSP00000370256:p.Ser266del						p.DS261del	NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)	1	783_785	+	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	261					Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	In_Frame_Del	DEL	ENST00000380874.2	37	c.783_785delCAG	CCDS4473.1																																																																																				0.793	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043450.1			2	4						2	4	---	---	---	---
POR	5447	broad.mit.edu	37	7	75616818	75616821	+	IGR	DEL	GACA	GACA	-	rs201142190|rs372601109|rs71741566|rs78055506|rs57753289	byFrequency	TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr7:75616818_75616821delGACA	ENST00000461988.1	+	0	2522				TMEM120A_ENST00000338761.4_RNA|TMEM120A_ENST00000493111.2_RNA	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase						carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	GCAGAGGACGGACAGACAGACAGG	0.574														4867	0.971845	0.8956	0.9957	5008	,	,		19911	1.0		1.0	False		,,,				2504	1.0					ENST00000493111.2																			0													transmembrane protein 120A				3440,346		1581,278,34						-2.2	0.0		dbSNP_130	33	7899,1		3949,1,0	no	intron	TMEM120A	NM_031925.2		5530,279,34	A1A1,A1R,RR		0.0127,9.1389,2.9694				11339,347				SO:0001628	intergenic_variant	83862					integral to membrane		g.chr7:75616818_75616821delGACA	AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413		7.37:g.75616826_75616829delGACA						TMEM120A_ENST00000338761.4_RNA				Q9BXJ8	T120A_HUMAN			0	849	-								Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	RNA	DEL	ENST00000461988.1	37		CCDS5579.1																																																																																				0.574	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252796.7	NM_000941		6	6						6	6	---	---	---	---
MMP12	4321	broad.mit.edu	37	11	102738793	102738794	+	RNA	INS	-	-	T	rs112457531|rs5794199|rs199886633|rs68192524		TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr11:102738793_102738794insT	ENST00000532855.1	-	0	727_728							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	TGAGGAACAAGTGGTGCCTAAG	0.416																																						ENST00000532855.1																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)																																					4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102738793_102738794insT	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102738794_102738794dupT										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	727_728	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	INS	ENST00000532855.1	37																																																																																						0.416	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		3	6						3	6	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74394379	74394380	+	RNA	INS	-	-	A	rs142790741	byFrequency	TCGA-BA-A6DD-01A-12D-A31L-08	TCGA-BA-A6DD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cee6020-356f-4c2e-85f1-63a1c0e8a8d2	b532630e-1958-4c87-b70b-a5ace90aa753	g.chr16:74394379_74394380insA	ENST00000429810.2	-	0	435																											TAGTCATCCTTAAACAAAATTC	0.347													|||unknown(NO_COVERAGE)	1085	0.216653	0.2474	0.1888	5008	,	,		27432	0.1379		0.2604	False		,,,				2504	0.2311					ENST00000429810.2																			0																																																			0							g.chr16:74394379_74394380insA																													16.37:g.74394382_74394382dupA														0	435	-									RNA	INS	ENST00000429810.2	37																																																																																						0.347	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			4	2						4	2	---	---	---	---
