#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
OR2C3	81472	broad.mit.edu	37	1	247695072	247695072	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr1:247695072C>T	ENST00000366487.3	-	2	1103	c.742G>A	c.(742-744)Gtg>Atg	p.V248M	GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			AGAGACACCACAGCCACGTGG	0.542																																						ENST00000366487.3																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43						c.(742-744)Gtg>Atg		olfactory receptor, family 2, subfamily C, member 3							130.0	118.0	122.0					1																	247695072		2203	4300	6503	SO:0001583	missense	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247695072C>T	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.742G>A	1.37:g.247695072C>T	ENSP00000355443:p.Val248Met					GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527084.1_Intron	p.V248M	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	1103	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	248					Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	ENST00000366487.3	37	c.742G>A	CCDS1634.2	.	.	.	.	.	.	.	.	.	.	C	11.38	1.621065	0.28889	.	.	ENSG00000196242	ENST00000366487	T	0.00277	8.34	3.75	3.75	0.43078	GPCR, rhodopsin-like superfamily (1);	0.280692	0.18424	U	0.141660	T	0.00998	0.0033	H	0.94964	3.605	0.09310	N	1	D	0.89917	1.0	D	0.77004	0.989	T	0.16188	-1.0411	10	0.87932	D	0	.	13.4629	0.61237	0.0:1.0:0.0:0.0	.	248	Q8N628	OR2C3_HUMAN	M	248	ENSP00000355443:V248M	ENSP00000355443:V248M	V	-	1	0	OR2C3	245761695	0.170000	0.23016	0.034000	0.17996	0.103000	0.19146	1.594000	0.36697	2.074000	0.62210	0.650000	0.86243	GTG		0.542	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		39	78	0	0	0	1	0	39	78				
HAVCR2	84868	broad.mit.edu	37	5	156535950	156535950	+	Silent	SNP	C	C	T			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr5:156535950C>T	ENST00000307851.4	-	1	775	c.45G>A	c.(43-45)ctG>ctA	p.L15L	HAVCR2_ENST00000517358.1_5'Flank|CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000522593.1_Silent_p.L15L	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	15						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.L18delL(1)|p.L15L(1)		cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TAAGTAGTAGCAGCAGCAGCA	0.443																																						ENST00000307851.4																			2	Substitution - coding silent(1)|Deletion - In frame(1)	p.L18delL(1)|p.L15L(1)	large_intestine(2)	cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(43-45)ctG>ctA		hepatitis A virus cellular receptor 2							135.0	120.0	126.0					5																	156535950		2203	4300	6503	SO:0001819	synonymous_variant	84868					integral to membrane		g.chr5:156535950C>T	AK027334	CCDS4333.1	5q34	2014-01-14			ENSG00000135077	ENSG00000135077		"""Immunoglobulin superfamily / V-set domain containing"""	18437	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 3"""	606652				11823861	Standard	NM_032782		Approved	Tim-3, TIM3, FLJ14428, TIMD3	uc003lwk.2	Q8TDQ0	OTTHUMG00000130249	ENST00000307851.4:c.45G>A	5.37:g.156535950C>T						HAVCR2_ENST00000522593.1_Silent_p.L15L|CTB-120L21.1_ENST00000517708.1_RNA	p.L15L	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	775	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	15					B2RAY2|Q8WW60|Q96K94	Silent	SNP	ENST00000307851.4	37	c.45G>A	CCDS4333.1																																																																																				0.443	HAVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252574.2			4	101	0	0	0	1	0	4	101				
OR5A1	219982	broad.mit.edu	37	11	59211422	59211422	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr11:59211422G>A	ENST00000302030.2	+	1	806	c.781G>A	c.(781-783)Gtg>Atg	p.V261M		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						AGCCCTTTTCGTGTACTTGCG	0.537																																						ENST00000302030.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(781-783)Gtg>Atg		olfactory receptor, family 5, subfamily A, member 1							266.0	216.0	233.0					11																	59211422		2201	4295	6496	SO:0001583	missense	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211422G>A	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.781G>A	11.37:g.59211422G>A	ENSP00000303096:p.Val261Met						p.V261M	NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN			1	806	+			261					B9EH58|Q6IFF2|Q96RB1	Missense_Mutation	SNP	ENST00000302030.2	37	c.781G>A	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	G	0.279	-0.987373	0.02180	.	.	ENSG00000172320	ENST00000302030	T	0.00051	8.81	5.98	3.66	0.41972	GPCR, rhodopsin-like superfamily (1);	0.328676	0.26847	N	0.022182	T	0.00073	0.0002	N	0.11870	0.19	0.18873	N	0.999987	B	0.06786	0.001	B	0.08055	0.003	T	0.28170	-1.0052	10	0.02654	T	1	-14.1546	5.7187	0.17974	0.6697:0.0:0.0703:0.2599	.	261	Q8NGJ0	OR5A1_HUMAN	M	261	ENSP00000303096:V261M	ENSP00000303096:V261M	V	+	1	0	OR5A1	58967998	0.010000	0.17322	1.000000	0.80357	0.857000	0.48899	0.791000	0.26915	0.492000	0.27815	-0.295000	0.09555	GTG		0.537	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		100	144	0	0	0	1	0	100	144				
FOXA2	3170	broad.mit.edu	37	20	22562677	22562677	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr20:22562677G>C	ENST00000377115.4	-	3	1366	c.1185C>G	c.(1183-1185)caC>caG	p.H395Q	FOXA2_ENST00000419308.2_Missense_Mutation_p.H401Q	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	395	Transactivation domain 2. {ECO:0000250}.				adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					TGTGGGGTtggtggtggtggt	0.612																																						ENST00000419308.2																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22						c.(1183-1185)caC>caG		forkhead box A2							160.0	156.0	158.0					20																	22562677		2203	4300	6503	SO:0001583	missense	3170				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region 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	g.chr20:22562677G>C	AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"""Forkhead boxes"""	5022	protein-coding gene	gene with protein product		600288	"""hepatocyte nuclear factor 3, beta"""	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.1185C>G	20.37:g.22562677G>C	ENSP00000366319:p.His395Gln					FOXA2_ENST00000377115.4_Missense_Mutation_p.H395Q|FOXA2_ENST00000319993.4_Missense_Mutation_p.H401Q	p.H395Q	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN			2	1387	-	Lung NSC(19;0.188)		395			Transactivation domain 2 (By similarity).		Q8WUW4|Q96DF7	Missense_Mutation	SNP	ENST00000377115.4	37	c.1185C>G	CCDS13147.1	.	.	.	.	.	.	.	.	.	.	G	5.824	0.336270	0.11013	.	.	ENSG00000125798	ENST00000377115;ENST00000419308;ENST00000319993;ENST00000444877	D;D;D	0.89485	-2.51;-2.51;-2.52	4.15	-0.0701	0.13748	Forkhead box protein, C-terminal (1);	.	.	.	.	T	0.81451	0.4825	L	0.36672	1.1	0.32494	N	0.539792	B;B	0.14805	0.011;0.011	B;B	0.14023	0.01;0.01	T	0.74278	-0.3717	9	0.40728	T	0.16	.	8.4046	0.32608	0.4526:0.0:0.5474:0.0	.	395;401	Q9Y261;B0ZTD4	FOXA2_HUMAN;.	Q	395;395;401;281	ENSP00000366319:H395Q;ENSP00000400341:H395Q;ENSP00000315955:H401Q	ENSP00000315955:H401Q	H	-	3	2	FOXA2	22510677	1.000000	0.71417	0.999000	0.59377	0.517000	0.34286	1.203000	0.32284	0.134000	0.18681	-0.348000	0.07805	CAC		0.612	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078289.1			3	37	0	0	0	1	0	3	37				
HMCN1	83872	broad.mit.edu	37	1	185964003	185964003	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr1:185964003G>T	ENST00000271588.4	+	24	3791	c.3562G>T	c.(3562-3564)Gtg>Ttg	p.V1188L	HMCN1_ENST00000367492.2_Missense_Mutation_p.V1188L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1188	Ig-like C2-type 9.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGGTCAAAGAGTGGATATTCC	0.413																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(3562-3564)Gtg>Ttg		hemicentin 1							135.0	128.0	131.0					1																	185964003		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185964003G>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.3562G>T	1.37:g.185964003G>T	ENSP00000271588:p.Val1188Leu					HMCN1_ENST00000367492.2_Missense_Mutation_p.V1188L	p.V1188L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			24	3791	+			1188			Ig-like C2-type 9.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.3562G>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.847145	0.32606	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.33216	1.42;1.42	5.35	4.41	0.53225	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.472749	0.23720	N	0.045228	T	0.21674	0.0522	L	0.28504	0.86	0.35551	D	0.803899	B	0.24618	0.107	B	0.33454	0.164	T	0.17137	-1.0379	10	0.10636	T	0.68	.	8.5355	0.33360	0.08:0.0:0.7709:0.1491	.	1188	Q96RW7	HMCN1_HUMAN	L	1188	ENSP00000271588:V1188L;ENSP00000356462:V1188L	ENSP00000271588:V1188L	V	+	1	0	HMCN1	184230626	1.000000	0.71417	0.994000	0.49952	0.977000	0.68977	1.812000	0.38952	1.314000	0.45095	0.650000	0.86243	GTG		0.413	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		5	83	1	0	0.014758	1	0.014758	5	83				
CSRP2BP	57325	broad.mit.edu	37	20	18168088	18168088	+	Silent	SNP	G	G	A			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr20:18168088G>A	ENST00000435364.3	+	10	2675	c.2334G>A	c.(2332-2334)ctG>ctA	p.L778L	CSRP2BP_ENST00000377681.3_Silent_p.L777L|CSRP2BP_ENST00000489634.2_Silent_p.L650L	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	778	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						CATTCTTTCTGAGGCTCCGGC	0.413																																						ENST00000278816.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						c.(2332-2334)ctG>ctA		CSRP2 binding protein							81.0	82.0	82.0					20																	18168088		2203	4300	6503	SO:0001819	synonymous_variant	57325				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity	g.chr20:18168088G>A	AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.2334G>A	20.37:g.18168088G>A						CSRP2BP_ENST00000377681.2_Silent_p.L777L|CSRP2BP_ENST00000435364.2_Silent_p.L778L|CSRP2BP_ENST00000489634.2_Silent_p.L650L	p.L778L			Q9H8E8	CSR2B_HUMAN			11	2984	+			778			N-acetyltransferase.		A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Silent	SNP	ENST00000435364.3	37	c.2334G>A	CCDS13133.1																																																																																				0.413	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536		49	60	0	0	0	1	0	49	60				
FRG1B	284802	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr20:29625934C>T	ENST00000278882.3	+	5	558	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	60										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(178-180)Cat>Tat																																						SO:0001583	missense	0							g.chr20:29625934C>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.178C>T	20.37:g.29625934C>T	ENSP00000278882:p.His60Tyr					FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y	p.H60Y							5	558	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.178C>T		.	.	.	.	.	.	.	.	.	.	c	3.585	-0.084798	0.07097	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.42131	0.98	1.68	1.68	0.24146	.	0.109676	0.64402	D	0.000005	T	0.32615	0.0835	.	.	.	0.23210	N	0.998115	B	0.26363	0.147	B	0.35859	0.212	T	0.27905	-1.0060	9	0.34782	T	0.22	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	65	F5H5R5	.	Y	60;65;60	ENSP00000408863:H65Y	ENSP00000278882:H60Y	H	+	1	0	FRG1B	28239595	1.000000	0.71417	0.997000	0.53966	0.021000	0.10359	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CAT		0.338	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	67	0	0	0	1	0	6	67				
BNIP1	662	broad.mit.edu	37	5	172587005	172587005	+	Silent	SNP	G	G	A			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr5:172587005G>A	ENST00000351486.5	+	5	472	c.441G>A	c.(439-441)agG>agA	p.R147R	BNIP1_ENST00000231668.9_Silent_p.R190R|BNIP1_ENST00000393770.4_Silent_p.R113R|BNIP1_ENST00000352523.6_Silent_p.R156R	NM_001205.2	NP_001196.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	147					apoptotic process (GO:0006915)|autophagy (GO:0006914)|endoplasmic reticulum membrane fusion (GO:0016320)|endoplasmic reticulum organization (GO:0007029)|execution phase of apoptosis (GO:0097194)|negative regulation of apoptotic process (GO:0043066)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGATCAGCAGGATGATGGCCC	0.562																																						ENST00000231668.9																			0				breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11						c.(568-570)agG>agA		BCL2/adenovirus E1B 19kDa interacting protein 1							167.0	172.0	170.0					5																	172587005		2203	4300	6503	SO:0001819	synonymous_variant	662				anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding	g.chr5:172587005G>A	AF083957	CCDS4384.1, CCDS4385.1, CCDS4386.1, CCDS43400.1	5q33-q34	2008-02-05	2002-08-29		ENSG00000113734	ENSG00000113734			1082	protein-coding gene	gene with protein product		603291	"""BCL2/adenovirus E1B 19kD-interacting protein 1"""			7954800, 15272311	Standard	NM_013979		Approved	Nip1, SEC20	uc003mcj.4	Q12981	OTTHUMG00000130521	ENST00000351486.5:c.441G>A	5.37:g.172587005G>A						BNIP1_ENST00000393770.4_Silent_p.R113R|BNIP1_ENST00000352523.6_Silent_p.R156R|BNIP1_ENST00000351486.5_Silent_p.R147R	p.R190R	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		6	674	+	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	147					D3DQM3|D3DQM4|D3DQM5|D3DQM6|O75622|O75623|O75624|Q6K044|Q96FG4	Silent	SNP	ENST00000351486.5	37	c.570G>A	CCDS4384.1																																																																																				0.562	BNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252939.1	NM_013979		84	118	0	0	0	1	0	84	118				
MAGI2	9863	broad.mit.edu	37	7	77885556	77885556	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr7:77885556G>A	ENST00000354212.4	-	10	2004	c.1751C>T	c.(1750-1752)cCg>cTg	p.P584L	MAGI2_ENST00000536571.1_Missense_Mutation_p.P416L|MAGI2_ENST00000522391.1_Missense_Mutation_p.P584L|MAGI2_ENST00000535697.1_Missense_Mutation_p.P421L|MAGI2_ENST00000419488.1_Missense_Mutation_p.P584L	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	584					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)	p.P584L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ATGGACGGGCGGTGGATACGT	0.527																																						ENST00000354212.4																			1	Substitution - Missense(1)	p.P584L(1)	urinary_tract(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(1750-1752)cCg>cTg		membrane associated guanylate kinase, WW and PDZ domain containing 2							101.0	88.0	92.0					7																	77885556		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77885556G>A	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1751C>T	7.37:g.77885556G>A	ENSP00000346151:p.Pro584Leu					MAGI2_ENST00000419488.1_Missense_Mutation_p.P584L|MAGI2_ENST00000536571.1_Missense_Mutation_p.P416L|MAGI2_ENST00000522391.1_Missense_Mutation_p.P584L|MAGI2_ENST00000535697.1_Missense_Mutation_p.P421L	p.P584L	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			10	2004	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	584					A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.1751C>T	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.826926	0.50739	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.10860	2.93;2.93;2.83;3.71;3.73	5.85	5.85	0.93711	PDZ/DHR/GLGF (1);	0.000000	0.36374	U	0.002622	T	0.26304	0.0642	L	0.45581	1.43	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.997;1.0;1.0;1.0;1.0	P;P;D;D;D;D	0.91635	0.905;0.8;0.998;0.998;0.999;0.998	T	0.01795	-1.1272	10	0.12103	T	0.63	.	19.1657	0.93557	0.0:0.0:1.0:0.0	.	421;416;584;584;584;584	F5GWH1;F5GWK7;B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;.;.;MAGI2_HUMAN	L	584;584;584;584;416;421	ENSP00000405766:P584L;ENSP00000346151:P584L;ENSP00000428389:P584L;ENSP00000441584:P416L;ENSP00000441603:P421L	ENSP00000346151:P584L	P	-	2	0	MAGI2	77723492	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	6.824000	0.75288	2.771000	0.95319	0.561000	0.74099	CCG		0.527	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		3	54	0	0	0	1	0	3	54				
P2RY11	5032	broad.mit.edu	37	19	10224314	10224314	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr19:10224314A>T	ENST00000321826.4	+	2	209	c.25A>T	c.(25-27)Aag>Tag	p.K9*	PPAN-P2RY11_ENST00000393796.4_Nonsense_Mutation_p.K429*|PPAN_ENST00000556468.1_Nonsense_Mutation_p.K429*|PPAN-P2RY11_ENST00000428358.1_Silent_p.P449P|P2RY11_ENST00000471843.1_3'UTR	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11	9					activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CACAGGTGCCAAGTCCTGCCC	0.617											OREG0025230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000556468.1																			0				endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1285-1287)Aag>Tag		peter pan homolog (Drosophila)							54.0	54.0	54.0					19																	10224314		2203	4300	6503	SO:0001587	stop_gained	56342							g.chr19:10224314A>T	AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166	ENST00000321826.4:c.25A>T	19.37:g.10224314A>T	ENSP00000323872:p.Lys9*		OREG0025230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	663	PPAN-P2RY11_ENST00000428358.1_Silent_p.P449P|PPAN-P2RY11_ENST00000393796.4_Nonsense_Mutation_p.K429*|P2RY11_ENST00000321826.4_Nonsense_Mutation_p.K9*|P2RY11_ENST00000471843.1_3'UTR	p.K429*					OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		13	1312	+								B2R8X9|O43190|Q9BYU4|Q9H170	Nonsense_Mutation	SNP	ENST00000321826.4	37	c.1285A>T	CCDS12226.1	.	.	.	.	.	.	.	.	.	.	A	16.53	3.148777	0.57151	.	.	ENSG00000243207;ENSG00000130810;ENSG00000244165	ENST00000393796;ENST00000556468;ENST00000321826	.	.	.	3.97	-6.88	0.01665	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	11.1794	0.48618	0.1792:0.7024:0.0:0.1184	.	.	.	.	X	429;429;9	.	ENSP00000323872:K9X	K	+	1	0	PPAN;P2RY11;PPAN-P2RY11	10085314	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.828000	0.04419	-1.774000	0.01288	-0.478000	0.04885	AAG		0.617	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	NM_002566		15	23	0	0	0	1	0	15	23				
PPP6R3	55291	broad.mit.edu	37	11	68337357	68337357	+	Silent	SNP	T	T	C			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr11:68337357T>C	ENST00000393800.2	+	11	1524	c.1270T>C	c.(1270-1272)Tta>Cta	p.L424L	PPP6R3_ENST00000527403.2_Silent_p.L424L|PPP6R3_ENST00000534534.1_Silent_p.L192L|PPP6R3_ENST00000265636.5_Silent_p.L373L|PPP6R3_ENST00000393799.2_Silent_p.L424L|PPP6R3_ENST00000393801.3_Silent_p.L424L|PPP6R3_ENST00000524904.1_Silent_p.L424L|PPP6R3_ENST00000529710.1_Silent_p.L373L|PPP6R3_ENST00000265637.4_Silent_p.L424L|PPP6R3_ENST00000524845.1_Silent_p.L424L	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	424					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TAATTTGTTATTAAAACATGT	0.373																																						ENST00000393799.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1270-1272)Tta>Cta		protein phosphatase 6, regulatory subunit 3							163.0	152.0	156.0					11																	68337357		2200	4294	6494	SO:0001819	synonymous_variant	55291				regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	g.chr11:68337357T>C	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.1270T>C	11.37:g.68337357T>C						PPP6R3_ENST00000265637.4_Silent_p.L424L|PPP6R3_ENST00000393801.3_Silent_p.L424L|PPP6R3_ENST00000534534.1_Silent_p.L192L|PPP6R3_ENST00000529710.1_Silent_p.L373L|PPP6R3_ENST00000527403.2_Silent_p.L424L|PPP6R3_ENST00000524904.1_Silent_p.L424L|PPP6R3_ENST00000265636.5_Silent_p.L373L|PPP6R3_ENST00000393800.2_Silent_p.L424L|PPP6R3_ENST00000524845.1_Silent_p.L424L	p.L424L			Q5H9R7	PP6R3_HUMAN			11	1537	+			424					Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Silent	SNP	ENST00000393800.2	37	c.1270T>C	CCDS53672.1																																																																																				0.373	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		64	77	0	0	0	1	0	64	77				
TUBB8P7	197331	broad.mit.edu	37	16	90162620	90162620	+	RNA	SNP	T	T	G	rs567602838	byFrequency	TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr16:90162620T>G	ENST00000564451.1	+	0	1973				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		CTAGGTAAAGTGGGGAAGCAG	0.483													.|||	3	0.000599042	0.0015	0.0	5008	,	,		21669	0.0		0.0	False		,,,				2504	0.001					ENST00000564451.1																			0																																																			0							g.chr16:90162620T>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162620T>G														0	1973	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.483	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		5	157	0	0	0	1	0	5	157				
SLC4A11	83959	broad.mit.edu	37	20	3209830	3209830	+	Silent	SNP	G	G	A	rs533752647		TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr20:3209830G>A	ENST00000380056.3	-	15	2024	c.1977C>T	c.(1975-1977)agC>agT	p.S659S	SLC4A11_ENST00000380059.3_Silent_p.S686S|SLC4A11_ENST00000539553.2_Silent_p.S643S|SLC4A11_ENST00000488544.1_5'UTR	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	659	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CCATGGCACCGCTGACGGCCC	0.617													G|||	1	0.000199681	0.0	0.0014	5008	,	,		11412	0.0		0.0	False		,,,				2504	0.0				NSCLC(190;922 2139 10266 10292 38692)	ENST00000380059.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						c.(2056-2058)agC>agT		solute carrier family 4, sodium borate transporter, member 11							60.0	60.0	60.0					20																	3209830		2203	4300	6503	SO:0001819	synonymous_variant	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3209830G>A	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.1977C>T	20.37:g.3209830G>A						SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Silent_p.S659S|SLC4A11_ENST00000539553.1_Silent_p.S643S	p.S686S	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN			16	2159	-			659			Membrane (bicarbonate transporter).		B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Silent	SNP	ENST00000380056.3	37	c.2058C>T	CCDS13052.1																																																																																				0.617	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			6	58	0	0	0	1	0	6	58				
SLC25A38	54977	broad.mit.edu	37	3	39432956	39432956	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr3:39432956G>A	ENST00000273158.4	+	4	678	c.301G>A	c.(301-303)Gtt>Att	p.V101I		NM_017875.2	NP_060345.2			solute carrier family 25, member 38											breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGTCCCTGGCGTTGGAATCTA	0.488																																						ENST00000273158.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						c.(301-303)Gtt>Att		solute carrier family 25, member 38							325.0	352.0	343.0					3																	39432956		2203	4300	6503	SO:0001583	missense	54977				erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane		g.chr3:39432956G>A	BC013194	CCDS2685.1	3p22.1	2013-05-22			ENSG00000144659	ENSG00000144659		"""Solute carriers"""	26054	protein-coding gene	gene with protein product		610819				16949250	Standard	NM_017875		Approved	FLJ20551	uc003cjo.2	Q96DW6	OTTHUMG00000131289	ENST00000273158.4:c.301G>A	3.37:g.39432956G>A	ENSP00000273158:p.Val101Ile						p.V101I	NM_017875.2	NP_060345.2	Q96DW6	S2538_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	4	678	+			101						Missense_Mutation	SNP	ENST00000273158.4	37	c.301G>A	CCDS2685.1	.	.	.	.	.	.	.	.	.	.	g	14.26	2.482707	0.44147	.	.	ENSG00000144659	ENST00000273158;ENST00000431510	T;T	0.79247	-1.25;-1.17	5.17	1.08	0.20341	Mitochondrial carrier domain (2);	0.177675	0.49916	N	0.000138	T	0.72795	0.3505	M	0.69523	2.12	0.41935	D	0.990589	B	0.21753	0.06	B	0.26770	0.073	T	0.63225	-0.6685	10	0.40728	T	0.16	-4.4575	8.0448	0.30542	0.3906:0.0:0.6094:0.0	.	101	Q96DW6	S2538_HUMAN	I	101;97	ENSP00000273158:V101I;ENSP00000394244:V97I	ENSP00000273158:V101I	V	+	1	0	SLC25A38	39407960	1.000000	0.71417	0.028000	0.17463	0.995000	0.86356	5.001000	0.63946	-0.095000	0.12351	0.655000	0.94253	GTT		0.488	SLC25A38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254057.3	NM_017875		9	558	0	0	0	1	0	9	558				
PIK3CA	5290	broad.mit.edu	37	3	178936095	178936095	+	Missense_Mutation	SNP	A	A	G	rs397517201		TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr3:178936095A>G	ENST00000263967.3	+	10	1794	c.1637A>G	c.(1636-1638)cAg>cGg	p.Q546R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	546	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		Q -> E (in BC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> K (in OC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> P (found in an anaplastic astrocytoma sample; unknown pathological significance). {ECO:0000269|PubMed:15289301}.|Q -> R (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.Q546R(30)|p.Q546P(18)|p.Q546L(5)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ATCACTGAGCAGGAGAAAGAT	0.363		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		53	Substitution - Missense(53)	p.Q546R(30)|p.Q546P(18)|p.Q546L(5)	endometrium(18)|breast(17)|large_intestine(10)|central_nervous_system(3)|prostate(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1636-1638)cAg>cGg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							61.0	61.0	61.0					3																	178936095		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936095A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1637A>G	3.37:g.178936095A>G	ENSP00000263967:p.Gln546Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.Q546R	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1794	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		546		Q -> E (in cancer).|Q -> K (in cancer).|Q -> P (in cancer).|Q -> R (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1637A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.332178	0.81801	.	.	ENSG00000121879	ENST00000263967	T	0.63417	-0.04	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75657	0.3879	M	0.64404	1.975	0.80722	D	1	D	0.63046	0.992	D	0.65323	0.934	T	0.76782	-0.2832	10	0.52906	T	0.07	-14.2064	16.1026	0.81194	1.0:0.0:0.0:0.0	.	546	P42336	PK3CA_HUMAN	R	546	ENSP00000263967:Q546R	ENSP00000263967:Q546R	Q	+	2	0	PIK3CA	180418789	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	8.962000	0.93254	2.198000	0.70561	0.383000	0.25322	CAG		0.363	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			13	31	0	0	0	1	0	13	31				
MUC5B	727897	broad.mit.edu	37	11	1270916	1270916	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr11:1270916C>T	ENST00000529681.1	+	31	12864	c.12806C>T	c.(12805-12807)cCg>cTg	p.P4269L	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.P4272L	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4269	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACGGCCACCCCGTCCTCCACC	0.642																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(12814-12816)cCg>cTg		mucin 5B, oligomeric mucus/gel-forming							121.0	141.0	134.0					11																	1270916		2093	4190	6283	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1270916C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.12806C>T	11.37:g.1270916C>T	ENSP00000436812:p.Pro4269Leu					MUC5B_ENST00000529681.1_Missense_Mutation_p.P4269L	p.P4272L			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	12873	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4269			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.12815C>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	5.001	0.185957	0.09495	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.19532	2.14;2.33	2.59	-1.08	0.09936	.	.	.	.	.	T	0.18882	0.0453	M	0.64404	1.975	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.04013	0.001;0.001	T	0.33420	-0.9869	9	0.87932	D	0	.	4.2221	0.10563	0.1575:0.5137:0.0:0.3288	.	4742;4272	A7Y9J9;E9PBJ0	.;.	L	4269;4272;4213;4119;48	ENSP00000436812:P4269L;ENSP00000415793:P4272L	ENSP00000343037:P4213L	P	+	2	0	MUC5B	1227492	0.000000	0.05858	0.000000	0.03702	0.207000	0.24258	-2.482000	0.00981	-0.157000	0.11059	0.064000	0.15345	CCG		0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		42	162	0	0	0	1	0	42	162				
FGFR2	2263	broad.mit.edu	37	10	123256167	123256167	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr10:123256167G>T	ENST00000358487.5	-	13	2014	c.1742C>A	c.(1741-1743)cCa>cAa	p.P581Q	FGFR2_ENST00000357555.5_Missense_Mutation_p.P492Q|FGFR2_ENST00000369061.4_Missense_Mutation_p.P469Q|FGFR2_ENST00000369059.1_Missense_Mutation_p.P467Q|FGFR2_ENST00000457416.2_Missense_Mutation_p.P582Q|FGFR2_ENST00000369060.4_Missense_Mutation_p.P465Q|FGFR2_ENST00000369056.1_Missense_Mutation_p.P582Q|FGFR2_ENST00000351936.6_Missense_Mutation_p.P579Q|FGFR2_ENST00000478859.1_Missense_Mutation_p.P353Q|FGFR2_ENST00000360144.3_Missense_Mutation_p.P493Q|FGFR2_ENST00000346997.2_Missense_Mutation_p.P579Q|FGFR2_ENST00000356226.4_Missense_Mutation_p.P464Q	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	581	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	CATCCCGGGTGGCCTCCGGGC	0.532		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																													ENST00000358487.5		5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	"""Crouzon, Pfeiffer, and Apert syndromes"""	E			"""gastric. NSCLC, endometrial"""		0				breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181						c.(1741-1743)cCa>cAa		fibroblast growth factor receptor 2	Palifermin(DB00039)						143.0	141.0	142.0					10																	123256167		2203	4300	6503	SO:0001583	missense	2263	Saethre-Chotzen syndrome;Apert syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123256167G>T	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.1742C>A	10.37:g.123256167G>T	ENSP00000351276:p.Pro581Gln					FGFR2_ENST00000360144.3_Missense_Mutation_p.P493Q|FGFR2_ENST00000346997.2_Missense_Mutation_p.P579Q|FGFR2_ENST00000478859.1_Missense_Mutation_p.P353Q|FGFR2_ENST00000369061.4_Missense_Mutation_p.P469Q|FGFR2_ENST00000357555.5_Missense_Mutation_p.P492Q|FGFR2_ENST00000457416.2_Missense_Mutation_p.P582Q|FGFR2_ENST00000356226.4_Missense_Mutation_p.P464Q|FGFR2_ENST00000369059.1_Missense_Mutation_p.P467Q|FGFR2_ENST00000369060.4_Missense_Mutation_p.P465Q|FGFR2_ENST00000351936.6_Missense_Mutation_p.P579Q|FGFR2_ENST00000369056.1_Missense_Mutation_p.P582Q	p.P581Q	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	13	2014	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	581			Protein kinase.		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	c.1742C>A	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897567	0.91962	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000429361;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82	5.28	5.28	0.74379	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93465	0.7915	L	0.45051	1.395	0.80722	D	1	P;P;P;D;D;B;D;D	0.76494	0.877;0.94;0.918;0.994;0.997;0.137;0.999;0.997	P;P;P;D;D;B;D;D	0.69824	0.822;0.907;0.808;0.91;0.927;0.082;0.938;0.966	D	0.94171	0.7423	10	0.87932	D	0	.	18.9702	0.92712	0.0:0.0:1.0:0.0	.	598;580;492;464;581;493;582;484	D3DRD5;P21802-18;P21802-21;P21802-20;P21802;P21802-22;P21802-17;D3DRD3	.;.;.;.;FGFR2_HUMAN;.;.;.	Q	492;582;469;581;464;465;467;173;579;582;579;493;582;582;490	ENSP00000350166:P492Q;ENSP00000358057:P469Q;ENSP00000351276:P581Q;ENSP00000348559:P464Q;ENSP00000358056:P465Q;ENSP00000358055:P467Q;ENSP00000404219:P173Q;ENSP00000263451:P579Q;ENSP00000410294:P582Q;ENSP00000309878:P579Q;ENSP00000353262:P493Q;ENSP00000358052:P582Q;ENSP00000358054:P582Q;ENSP00000337665:P490Q	ENSP00000337665:P490Q	P	-	2	0	FGFR2	123246157	1.000000	0.71417	0.953000	0.39169	0.962000	0.63368	9.743000	0.98849	2.464000	0.83262	0.549000	0.68633	CCA		0.532	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		57	73	1	0	9.16383e-17	1	9.37695e-17	57	73				
OR7D2	162998	broad.mit.edu	37	19	9296887	9296887	+	Silent	SNP	C	C	T			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr19:9296887C>T	ENST00000344248.2	+	1	609	c.430C>T	c.(430-432)Ctg>Ttg	p.L144L		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	144					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						CTGTGGCCTCCTGGTTTTTGT	0.478																																						ENST00000344248.2																			0				breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						c.(430-432)Ctg>Ttg		olfactory receptor, family 7, subfamily D, member 2							147.0	141.0	143.0					19																	9296887		2203	4300	6503	SO:0001819	synonymous_variant	162998				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9296887C>T	AK095468	CCDS32900.1	19p13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.430C>T	19.37:g.9296887C>T							p.L144L	NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN			1	609	+			144					Q6IFJ7|Q8N133	Silent	SNP	ENST00000344248.2	37	c.430C>T	CCDS32900.1																																																																																				0.478	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449002.1			19	187	0	0	0	1	0	19	187				
NES	10763	broad.mit.edu	37	1	156642351	156642351	+	Silent	SNP	T	T	C			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr1:156642351T>C	ENST00000368223.3	-	4	1761	c.1629A>G	c.(1627-1629)aaA>aaG	p.K543K		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	543	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCAGGGTTTCTTTTTCCAAAG	0.468																																						ENST00000368223.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64						c.(1627-1629)aaA>aaG		nestin							65.0	69.0	68.0					1																	156642351		2203	4300	6503	SO:0001819	synonymous_variant	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156642351T>C	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.1629A>G	1.37:g.156642351T>C							p.K543K	NM_006617.1	NP_006608.1	P48681	NEST_HUMAN			4	1761	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		543			Tail.		O00552|Q3LIF5|Q5SYZ6	Silent	SNP	ENST00000368223.3	37	c.1629A>G	CCDS1151.1																																																																																				0.468	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		5	38	0	0	0	1	0	5	38				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			16	52	0	0	0	1	0	16	52				
NFKB2	4791	broad.mit.edu	37	10	104160083	104160083	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr10:104160083T>C	ENST00000369966.3	+	16	1883	c.1633T>C	c.(1633-1635)Ttt>Ctt	p.F545L	NFKB2_ENST00000189444.6_Missense_Mutation_p.F545L|NFKB2_ENST00000428099.1_Missense_Mutation_p.F545L	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	545					extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|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)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	TGTGGTGAGCTTTCTGCTGCG	0.652			T	IGH@	B-NHL																																	ENST00000369966.3				Dom	yes		10	10q24	4791	T	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)			L	IGH@		B-NHL		0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23						c.(1633-1635)Ttt>Ctt		nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)							65.0	69.0	67.0					10																	104160083		2119	4223	6342	SO:0001583	missense	4791				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr10:104160083T>C	X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"""Ankyrin repeat domain containing"""	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.1633T>C	10.37:g.104160083T>C	ENSP00000358983:p.Phe545Leu					NFKB2_ENST00000189444.6_Missense_Mutation_p.F545L|NFKB2_ENST00000428099.1_Missense_Mutation_p.F545L	p.F545L	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	16	1883	+		Colorectal(252;0.00957)	545					A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Missense_Mutation	SNP	ENST00000369966.3	37	c.1633T>C	CCDS41564.1	.	.	.	.	.	.	.	.	.	.	T	6.269	0.417788	0.11870	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	T;T;T	0.60548	0.18;0.18;0.18	4.51	4.51	0.55191	Ankyrin repeat-containing domain (3);	0.451973	0.25366	N	0.031191	T	0.26919	0.0659	N	0.01668	-0.77	0.30137	N	0.804281	B;B	0.18741	0.03;0.03	B;B	0.28011	0.05;0.085	T	0.25398	-1.0133	10	0.07990	T	0.79	.	9.6274	0.39759	0.0:0.0857:0.0:0.9143	.	545;545	Q00653;A8K9D9	NFKB2_HUMAN;.	L	545	ENSP00000410256:F545L;ENSP00000358983:F545L;ENSP00000189444:F545L	ENSP00000189444:F545L	F	+	1	0	NFKB2	104150073	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.073000	0.30691	2.029000	0.59856	0.459000	0.35465	TTT		0.652	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2			3	114	0	0	0	1	0	3	114				
SLC5A3	6526	broad.mit.edu	37	21	35468232	35468232	+	Silent	SNP	A	A	G			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr21:35468232A>G	ENST00000381151.3	+	2	1247	c.735A>G	c.(733-735)aaA>aaG	p.K245K	MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000608209.1_Silent_p.K245K|AP000320.7_ENST00000362077.4_RNA			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	245					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						CCCCTAAGAAAGAAGCCCTGA	0.453																																						ENST00000381151.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						c.(733-735)aaA>aaG		solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							119.0	118.0	118.0					21																	35468232		2203	4300	6503	SO:0001819	synonymous_variant	6526					integral to plasma membrane	myo-inositol:sodium symporter activity	g.chr21:35468232A>G		CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"""Solute carriers"""	11038	protein-coding gene	gene with protein product		600444	"""solute carrier family 5 (inositol transporter), member 3"""			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.735A>G	21.37:g.35468232A>G						MRPS6_ENST00000399312.2_Intron	p.K245K	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN			2	1247	+			245					O43489	Silent	SNP	ENST00000381151.3	37	c.735A>G	CCDS33549.1																																																																																				0.453	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1			49	74	0	0	0	1	0	49	74				
DNM1P47	100216544	broad.mit.edu	37	15	102296140	102296140	+	RNA	SNP	C	C	T	rs191279075	byFrequency	TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr15:102296140C>T	ENST00000561463.1	+	0	4186									DNM1 pseudogene 47																		GTCCAACCTGCACTCGCGTGG	0.602																																						ENST00000561463.1																			0																																																			0							g.chr15:102296140C>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102296140C>T														0	4186	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.602	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		5	9	0	0	0	1	0	5	9				
TNFRSF13B	23495	broad.mit.edu	37	17	16852148	16852148	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr17:16852148C>T	ENST00000261652.2	-	3	361	c.349G>A	c.(349-351)Gag>Aag	p.E117K	TNFRSF13B_ENST00000437538.2_Missense_Mutation_p.E71K|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.E71K|TNFRSF13B_ENST00000579315.1_Missense_Mutation_p.E117K|TNFRSF13B_ENST00000581616.2_5'UTR	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	117					B cell homeostasis (GO:0001782)|cell surface receptor signaling pathway (GO:0007166)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of B cell proliferation (GO:0030889)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						CTCCTGAGCTCTGGTGGAAGG	0.522									IgA Deficiency, Selective																													ENST00000437538.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						c.(211-213)Gag>Aag		tumor necrosis factor receptor superfamily, member 13B							202.0	183.0	190.0					17																	16852148		2203	4300	6503	SO:0001583	missense	23495	IgA Deficiency, Selective	Familial Cancer Database	IGAD1, IGAD2	cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr17:16852148C>T	AF023614	CCDS11181.1	17p11.2	2014-09-17			ENSG00000240505	ENSG00000240505		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	18153	protein-coding gene	gene with protein product		604907				9311921	Standard	NM_012452		Approved	TACI, CD267	uc002gqs.1	O14836	OTTHUMG00000059262	ENST00000261652.2:c.349G>A	17.37:g.16852148C>T	ENSP00000261652:p.Glu117Lys					TNFRSF13B_ENST00000261652.2_Missense_Mutation_p.E117K|TNFRSF13B_ENST00000581616.2_5'UTR|TNFRSF13B_ENST00000579315.1_Missense_Mutation_p.E117K|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.E71K	p.E71K			O14836	TR13B_HUMAN			2	219	-			117					B2R8B0|B7Z6V8|Q32LX4|Q7Z6F5	Missense_Mutation	SNP	ENST00000261652.2	37	c.211G>A	CCDS11181.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.577084	0.28092	.	.	ENSG00000240505	ENST00000437538;ENST00000261652	D;D	0.93247	-3.19;-3.14	4.96	2.86	0.33363	.	0.835188	0.10440	N	0.674420	D	0.91885	0.7431	M	0.64997	1.995	0.09310	N	1	B;P;P	0.38677	0.267;0.642;0.51	B;B;B	0.38458	0.058;0.274;0.142	T	0.82499	-0.0427	10	0.51188	T	0.08	-9.3972	12.1779	0.54196	0.0:0.6387:0.3613:0.0	.	117;71;117	B7Z6V8;O14836-2;O14836	.;.;TR13B_HUMAN	K	71;117	ENSP00000413453:E71K;ENSP00000261652:E117K	ENSP00000261652:E117K	E	-	1	0	TNFRSF13B	16792873	0.008000	0.16893	0.017000	0.16124	0.181000	0.23173	0.785000	0.26830	0.541000	0.28827	0.650000	0.86243	GAG		0.522	TNFRSF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131474.2			71	105	0	0	0	1	0	71	105				
BAI1	575	broad.mit.edu	37	8	143623472	143623472	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr8:143623472C>T	ENST00000517894.1	+	28	4771	c.3877C>T	c.(3877-3879)Cgc>Tgc	p.R1293C	BAI1_ENST00000323289.5_Missense_Mutation_p.R1293C			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1293					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CGGCTCACCCCGCTATCCCGG	0.652																																						ENST00000517894.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(3877-3879)Cgc>Tgc		brain-specific angiogenesis inhibitor 1							31.0	37.0	35.0					8																	143623472		2067	4201	6268	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143623472C>T	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3877C>T	8.37:g.143623472C>T	ENSP00000430945:p.Arg1293Cys					BAI1_ENST00000323289.5_Missense_Mutation_p.R1293C	p.R1293C			O14514	BAI1_HUMAN			28	4771	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		1293						Missense_Mutation	SNP	ENST00000517894.1	37	c.3877C>T		.	.	.	.	.	.	.	.	.	.	c	15.36	2.811265	0.50527	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.27402	1.67;1.67	4.26	4.26	0.50523	.	0.274240	0.24917	U	0.034572	T	0.17789	0.0427	N	0.08118	0	0.32217	N	0.575763	D	0.63880	0.993	B	0.41299	0.353	T	0.12041	-1.0563	10	0.44086	T	0.13	.	15.6704	0.77270	0.0:1.0:0.0:0.0	.	1293	E9PBK0	.	C	1293	ENSP00000430945:R1293C;ENSP00000313046:R1293C	ENSP00000313046:R1293C	R	+	1	0	BAI1	143620474	0.988000	0.35896	0.873000	0.34254	0.639000	0.38242	2.624000	0.46444	1.910000	0.55303	0.586000	0.80456	CGC		0.652	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		3	32	0	0	0	1	0	3	32				
SPATA31E1	286234	broad.mit.edu	37	9	90501843	90501843	+	Missense_Mutation	SNP	G	G	A	rs376492433		TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr9:90501843G>A	ENST00000325643.5	+	4	2507	c.2441G>A	c.(2440-2442)gGg>gAg	p.G814E		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	814					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TGGAGGGGTGGGAAAGCCCAC	0.572																																						ENST00000325643.5																			0											c.(2440-2442)gGg>gAg		SPATA31 subfamily E, member 1							65.0	71.0	69.0					9																	90501843		2203	4300	6503	SO:0001583	missense	286234							g.chr9:90501843G>A	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.2441G>A	9.37:g.90501843G>A	ENSP00000322640:p.Gly814Glu						p.G814E	NM_178828.4	NP_849150.3					4	2507	+								B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.2441G>A	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	g	7.506	0.653698	0.14580	.	.	ENSG00000177992	ENST00000325643;ENST00000539327	T	0.03242	4.0	2.32	-4.64	0.03349	.	3.455730	0.00589	N	0.000345	T	0.02767	0.0083	N	0.16743	0.435	0.09310	N	1	P;P	0.51933	0.949;0.571	P;B	0.48952	0.596;0.118	T	0.46219	-0.9207	10	0.05525	T	0.97	.	1.9544	0.03373	0.1981:0.1701:0.4623:0.1694	.	814;466	Q6ZUB1;Q8NA33	CI079_HUMAN;.	E	814;466	ENSP00000322640:G814E	ENSP00000322640:G814E	G	+	2	0	C9orf79	89691663	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.007000	0.13174	-1.786000	0.01269	-0.484000	0.04775	GGG		0.572	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		22	18	0	0	0	1	0	22	18				
CNBD2	140894	broad.mit.edu	37	20	34618499	34618499	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr20:34618499T>C	ENST00000373973.3	+	12	1833	c.1660T>C	c.(1660-1662)Tac>Cac	p.Y554H	CNBD2_ENST00000538900.1_3'UTR|CNBD2_ENST00000349339.1_Missense_Mutation_p.Y550H			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	554																	ACCCCAGAAATACCTCCCCCC	0.463																																						ENST00000373973.3																			0											c.(1660-1662)Tac>Cac		cyclic nucleotide binding domain containing 2							223.0	217.0	219.0					20																	34618499		2203	4300	6503	SO:0001583	missense	140894							g.chr20:34618499T>C	AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.1660T>C	20.37:g.34618499T>C	ENSP00000363084:p.Tyr554His					CNBD2_ENST00000349339.1_Missense_Mutation_p.Y550H|CNBD2_ENST00000538900.1_3'UTR	p.Y554H							12	1833	+								Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Missense_Mutation	SNP	ENST00000373973.3	37	c.1660T>C		.	.	.	.	.	.	.	.	.	.	T	10.70	1.424028	0.25639	.	.	ENSG00000149646	ENST00000373973;ENST00000349339	T;T	0.12039	2.72;2.72	5.43	-0.927	0.10451	.	1.939760	0.02168	N	0.059438	T	0.11495	0.0280	L	0.43923	1.385	0.09310	N	1	B	0.16396	0.017	B	0.15052	0.012	T	0.25082	-1.0142	10	0.25106	T	0.35	-0.1038	2.7615	0.05307	0.3228:0.2731:0.0:0.4041	.	550	Q96M20-2	.	H	554;550	ENSP00000363084:Y554H;ENSP00000340954:Y550H	ENSP00000340954:Y550H	Y	+	1	0	C20orf152	34081913	0.002000	0.14202	0.375000	0.26029	0.437000	0.31866	-0.033000	0.12246	0.114000	0.18032	0.459000	0.35465	TAC		0.463	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834		133	168	0	0	0	1	0	133	168				
NAV3	89795	broad.mit.edu	37	12	78591057	78591057	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr12:78591057G>A	ENST00000397909.2	+	35	6495	c.6322G>A	c.(6322-6324)Gaa>Aaa	p.E2108K	NAV3_ENST00000536525.2_Missense_Mutation_p.E2086K|NAV3_ENST00000541270.1_5'Flank|NAV3_ENST00000228327.6_Missense_Mutation_p.E2086K|NAV3_ENST00000266692.7_Missense_Mutation_p.E1909K			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2108						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TAACCTGGCTGAACAGTGCAG	0.338										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(6322-6324)Gaa>Aaa		neuron navigator 3							116.0	106.0	109.0					12																	78591057		1844	4089	5933	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78591057G>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6322G>A	12.37:g.78591057G>A	ENSP00000381007:p.Glu2108Lys	HNSCC(70;0.22)				NAV3_ENST00000536525.2_Missense_Mutation_p.E2086K|NAV3_ENST00000266692.7_Missense_Mutation_p.E1909K|NAV3_ENST00000228327.6_Missense_Mutation_p.E2086K	p.E2108K			Q8IVL0	NAV3_HUMAN			35	6495	+			2108					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.6322G>A		.	.	.	.	.	.	.	.	.	.	G	32	5.105835	0.94292	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3	5.49	5.49	0.81192	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.40818	U	0.001009	D	0.91068	0.7189	L	0.46947	1.48	0.80722	D	1	D;P;D;P	0.76494	0.961;0.59;0.999;0.925	P;B;D;P	0.74348	0.852;0.158;0.983;0.54	D	0.87856	0.2661	10	0.23302	T	0.38	-23.4767	19.745	0.96248	0.0:0.0:1.0:0.0	.	2086;1909;2108;2086	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	K	2086;2108;2086;1909;700;708	ENSP00000446132:E2086K;ENSP00000381007:E2108K;ENSP00000228327:E2086K;ENSP00000266692:E1909K;ENSP00000448303:E708K	ENSP00000228327:E2086K	E	+	1	0	NAV3	77115188	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.813000	0.99286	2.736000	0.93811	0.655000	0.94253	GAA		0.338	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		3	43	0	0	0	1	0	3	43				
DISP2	85455	broad.mit.edu	37	15	40656656	40656656	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr15:40656656G>A	ENST00000267889.3	+	4	601	c.514G>A	c.(514-516)Gtg>Atg	p.V172M		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	172					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GCCAGTGGCCGTGCTGATGCT	0.602																																						ENST00000267889.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30						c.(514-516)Gtg>Atg		dispatched homolog 2 (Drosophila)							103.0	91.0	95.0					15																	40656656		2203	4300	6503	SO:0001583	missense	85455				smoothened signaling pathway	integral to membrane		g.chr15:40656656G>A	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.514G>A	15.37:g.40656656G>A	ENSP00000267889:p.Val172Met						p.V172M	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)	4	601	+		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	172					Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	37	c.514G>A	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395813	0.62177	.	.	ENSG00000140323	ENST00000267889	T	0.20881	2.04	5.01	-0.644	0.11479	.	0.380247	0.28470	N	0.015237	T	0.21227	0.0511	M	0.78456	2.415	0.44611	D	0.997584	P	0.43352	0.804	B	0.36959	0.237	T	0.07966	-1.0745	10	0.66056	D	0.02	-1.194	9.0476	0.36356	0.4226:0.0:0.5774:0.0	.	172	A7MBM2	DISP2_HUMAN	M	172	ENSP00000267889:V172M	ENSP00000267889:V172M	V	+	1	0	DISP2	38443948	0.998000	0.40836	0.814000	0.32528	0.956000	0.61745	2.612000	0.46343	-0.252000	0.09528	0.462000	0.41574	GTG		0.602	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		4	139	0	0	0	1	0	4	139				
SUV420H1	51111	broad.mit.edu	37	11	67941292	67941292	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr11:67941292T>C	ENST00000304363.4	-	6	985	c.632A>G	c.(631-633)aAa>aGa	p.K211R	SUV420H1_ENST00000405515.1_Missense_Mutation_p.K211R|SUV420H1_ENST00000402789.1_Missense_Mutation_p.K211R|SUV420H1_ENST00000402185.2_Missense_Mutation_p.K188R|SUV420H1_ENST00000401547.2_Missense_Mutation_p.K211R	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	211	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TGCAACTATTTTGGCTCCATT	0.299																																						ENST00000304363.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(631-633)aAa>aGa		suppressor of variegation 4-20 homolog 1 (Drosophila)							114.0	105.0	108.0					11																	67941292		2198	4293	6491	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67941292T>C	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.632A>G	11.37:g.67941292T>C	ENSP00000305899:p.Lys211Arg					SUV420H1_ENST00000405515.1_Missense_Mutation_p.K211R|SUV420H1_ENST00000402789.1_Missense_Mutation_p.K211R|SUV420H1_ENST00000402185.2_Missense_Mutation_p.K188R|SUV420H1_ENST00000401547.2_Missense_Mutation_p.K211R	p.K211R	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN			6	985	-			211			SET.		B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.632A>G	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.954599	0.92726	.	.	ENSG00000110066	ENST00000304363;ENST00000401547;ENST00000405515;ENST00000402789;ENST00000402185;ENST00000533271	D;D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06;-2.06	5.33	5.33	0.75918	SET domain (1);	0.000000	0.85682	D	0.000000	D	0.89726	0.6798	L	0.48260	1.515	0.80722	D	1	D;P;D;D	0.89917	0.992;0.85;0.996;1.0	D;P;D;D	0.87578	0.948;0.775;0.987;0.998	D	0.90193	0.4251	10	0.54805	T	0.06	-34.2585	15.6036	0.76646	0.0:0.0:0.0:1.0	.	188;211;211;211	B7WNX0;B5MCB3;Q4FZB7-2;Q4FZB7	.;.;.;SV421_HUMAN	R	211;211;211;211;188;39	ENSP00000305899:K211R;ENSP00000385965:K211R;ENSP00000385640:K211R;ENSP00000385005:K211R;ENSP00000384724:K188R;ENSP00000433589:K39R	ENSP00000305899:K211R	K	-	2	0	SUV420H1	67697868	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.256000	0.72473	2.157000	0.67596	0.482000	0.46254	AAA		0.299	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		6	63	0	0	0	1	0	6	63				
SHBG	6462	broad.mit.edu	37	17	7535330	7535330	+	Silent	SNP	T	T	C			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr17:7535330T>C	ENST00000380450.4	+	6	880	c.849T>C	c.(847-849)gaT>gaC	p.D283D	SHBG_ENST00000340624.5_Silent_p.D225D|SHBG_ENST00000572262.1_Silent_p.D171D|SHBG_ENST00000575314.1_Silent_p.D225D|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000441599.2_Intron|SHBG_ENST00000574539.1_Silent_p.D225D|SHBG_ENST00000416273.3_Silent_p.D283D|SHBG_ENST00000576728.1_Silent_p.D171D|SHBG_ENST00000575903.1_Silent_p.D265D|SHBG_ENST00000572182.1_Intron	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	283	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				primary spermatocyte growth (GO:0007285)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	androgen binding (GO:0005497)	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Drostanolone(DB00858)|Estradiol(DB00783)|Estropipate(DB04574)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Methyltestosterone(DB06710)|Mitotane(DB00648)|Norethindrone(DB00717)|Spironolactone(DB00421)|Testosterone(DB00624)|transdermal testosterone gel(DB05275)	ACCTCCAAGATCAAGTAAAGG	0.542																																						ENST00000380450.4																			2	Unknown(1)|Whole gene deletion(1)	p.0?(1)|p.?(1)	haematopoietic_and_lymphoid_tissue(1)|bone(1)	cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10						c.(847-849)gaT>gaC		sex hormone-binding globulin	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)						99.0	103.0	102.0					17																	7535330		2203	4300	6503	SO:0001819	synonymous_variant	6462				hormone transport	extracellular region	androgen binding|protein homodimerization activity	g.chr17:7535330T>C		CCDS11117.1, CCDS54082.1, CCDS54083.1, CCDS58513.1, CCDS73961.1, CCDS73962.1	17p13.1	2013-09-19			ENSG00000129214	ENSG00000129214			10839	protein-coding gene	gene with protein product	"""androgen binding protein"""	182205				2587256	Standard	NM_001146279		Approved	ABP, TEBG, MGC126834, MGC138391	uc002gie.2	P04278	OTTHUMG00000108153	ENST00000380450.4:c.849T>C	17.37:g.7535330T>C						SHBG_ENST00000576478.1_Intron|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000574539.1_Silent_p.D225D|SHBG_ENST00000576728.1_Silent_p.D171D|SHBG_ENST00000575314.1_Silent_p.D225D|SHBG_ENST00000575903.1_Silent_p.D265D|SHBG_ENST00000340624.5_Silent_p.D225D|SHBG_ENST00000441599.2_Intron|SHBG_ENST00000416273.3_Silent_p.D283D|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000572262.1_Silent_p.D171D	p.D283D	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN		READ - Rectum adenocarcinoma(115;0.168)	6	880	+		all_cancers(10;0.0867)	283			Laminin G-like 2.		B0FWH4|E9PGW1|F5H5Z8|I3L1N7|P14689|Q16616|Q3MIL0|Q6ISD2	Silent	SNP	ENST00000380450.4	37	c.849T>C	CCDS11117.1																																																																																				0.542	SHBG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226957.2	NM_001040		21	120	0	0	0	1	0	21	120				
FDX1L	112812	broad.mit.edu	37	19	10421614	10421614	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr19:10421614C>T	ENST00000393708.3	-	4	328	c.310G>A	c.(310-312)Gcc>Acc	p.A104T	ZGLP1_ENST00000403352.1_5'Flank|FDX1L_ENST00000541276.1_Missense_Mutation_p.A107T|FDX1L_ENST00000494368.1_5'UTR|FDX1L_ENST00000492239.1_5'UTR|CTD-2369P2.10_ENST00000452032.2_Missense_Mutation_p.A104T|ZGLP1_ENST00000403903.3_5'Flank	NM_001031734.2	NP_001026904.1	Q6P4F2	ADXL_HUMAN	ferredoxin 1-like	104	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.				oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)			NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			GCTTCACAGGCCCCTAGGGGT	0.617																																						ENST00000452032.2																			0											c.(310-312)Gcc>Acc									39.0	35.0	36.0					19																	10421614		2203	4300	6503	SO:0001583	missense	0							g.chr19:10421614C>T	AK097022	CCDS32905.1	19p13.2	2012-10-09			ENSG00000267673	ENSG00000267673			30546	protein-coding gene	gene with protein product		614585				12477932	Standard	NM_001031734		Approved	MGC19604	uc002mny.1	Q6P4F2	OTTHUMG00000141299	ENST00000393708.3:c.310G>A	19.37:g.10421614C>T	ENSP00000377311:p.Ala104Thr					FDX1L_ENST00000494368.1_5'UTR|FDX1L_ENST00000541276.1_Missense_Mutation_p.A107T|FDX1L_ENST00000492239.1_5'UTR|FDX1L_ENST00000393708.3_Missense_Mutation_p.A104T	p.A104T							4	322	-								Q8N8B8	Missense_Mutation	SNP	ENST00000393708.3	37	c.310G>A	CCDS32905.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.992894	0.74703	.	.	ENSG00000167807	ENST00000541276;ENST00000393708	.	.	.	4.8	4.8	0.61643	Beta-grasp fold, ferredoxin-type (1);Ferredoxin (3);	0.000000	0.85682	D	0.000000	T	0.79155	0.4398	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82084	-0.0632	9	0.66056	D	0.02	-20.803	15.3471	0.74346	0.0:1.0:0.0:0.0	.	104	Q6P4F2	ADXL_HUMAN	T	107;104	.	ENSP00000377311:A104T	A	-	1	0	FDX1L	10282614	1.000000	0.71417	1.000000	0.80357	0.238000	0.25445	6.590000	0.74085	2.211000	0.71520	0.561000	0.74099	GCC		0.617	FDX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280567.2			8	38	0	0	0	1	0	8	38				
POM121L9P	29774	broad.mit.edu	37	22	24659734	24659734	+	RNA	SNP	T	T	C			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr22:24659734T>C	ENST00000414583.2	+	0	3259					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		CTCTCTCCTGTGGGAGGGGGG	0.632																																						ENST00000414583.2																			0																																																			0							g.chr22:24659734T>C	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659734T>C								NR_003714.1						0	3259	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.632	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		3	14	0	0	0	1	0	3	14				
SAA4	6291	broad.mit.edu	37	11	18253209	18253209	+	Missense_Mutation	SNP	C	C	T	rs201435531		TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr11:18253209C>T	ENST00000278222.4	-	4	413	c.233G>A	c.(232-234)cGt>cAt	p.R78H	SAA2-SAA4_ENST00000524555.1_RNA	NM_006512.3	NP_006503.2	P35542	SAA4_HUMAN	serum amyloid A4, constitutive	78					acute-phase response (GO:0006953)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(1)|stomach(1)	13						GACCCTGGAACGGCTGCAACC	0.488																																						ENST00000278222.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(1)|stomach(1)	13						c.(232-234)cGt>cAt		serum amyloid A4, constitutive							54.0	53.0	53.0					11																	18253209		2199	4293	6492	SO:0001583	missense	6291							g.chr11:18253209C>T	M81349	CCDS7832.1	11p15.1-p14	2008-07-21			ENSG00000148965	ENSG00000148965			10516	protein-coding gene	gene with protein product		104752				8325654	Standard	NM_006512		Approved	C-SAA, CSAA		P35542	OTTHUMG00000166483	ENST00000278222.4:c.233G>A	11.37:g.18253209C>T	ENSP00000278222:p.Arg78His					SAA2-SAA4_ENST00000524555.1_RNA	p.R78H	NM_006512.3	NP_006503.2					4	413	-								Q6FHJ4	Missense_Mutation	SNP	ENST00000278222.4	37	c.233G>A	CCDS7832.1	.	.	.	.	.	.	.	.	.	.	C	9.534	1.111533	0.20714	.	.	ENSG00000148965	ENST00000278222	T	0.09445	2.98	2.86	0.199	0.15175	.	.	.	.	.	T	0.05181	0.0138	N	0.19112	0.55	0.09310	N	1	P	0.47350	0.894	B	0.36567	0.228	T	0.32348	-0.9910	9	0.56958	D	0.05	.	3.0811	0.06262	0.0:0.1712:0.267:0.5617	.	78	P35542	SAA4_HUMAN	H	78	ENSP00000278222:R78H	ENSP00000278222:R78H	R	-	2	0	SAA4	18209785	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	0.464000	0.21988	-0.093000	0.12396	-0.373000	0.07131	CGT		0.488	SAA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389988.1	NM_006512		16	31	0	0	0	1	0	16	31				
FBXO18	84893	broad.mit.edu	37	10	5979128	5979128	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr10:5979128G>A	ENST00000362091.4	+	21	3132	c.3017G>A	c.(3016-3018)cGc>cAc	p.R1006H	FBXO18_ENST00000379999.5_Missense_Mutation_p.R1057H|FBXO18_ENST00000397269.3_Missense_Mutation_p.R510H|RP11-536K7.3_ENST00000397264.4_RNA	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	1006					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GCGGAGCAGCGCATCGGGCCC	0.622																																						ENST00000379999.5																			0				NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						c.(3169-3171)cGc>cAc		F-box protein, helicase, 18							37.0	42.0	40.0					10																	5979128		2203	4300	6503	SO:0001583	missense	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5979128G>A	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.3017G>A	10.37:g.5979128G>A	ENSP00000355415:p.Arg1006His					RP11-536K7.3_ENST00000397264.3_RNA|FBXO18_ENST00000362091.4_Missense_Mutation_p.R1006H|FBXO18_ENST00000379994.1_Intron|FBXO18_ENST00000397269.3_Missense_Mutation_p.R510H	p.R1057H	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN			22	3274	+			1006					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	c.3170G>A	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	.	22.9	4.349907	0.82132	.	.	ENSG00000134452	ENST00000397269;ENST00000362091;ENST00000379999	.	.	.	5.24	4.33	0.51752	.	0.109688	0.64402	D	0.000018	T	0.66228	0.2768	L	0.32530	0.975	0.47245	D	0.999363	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.981;0.981	T	0.69771	-0.5055	9	0.72032	D	0.01	-13.8651	14.7741	0.69703	0.0:0.1457:0.8543:0.0	.	1057;1006;932	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	H	510;1006;1057	.	ENSP00000355415:R1006H	R	+	2	0	FBXO18	6019134	1.000000	0.71417	0.402000	0.26371	0.972000	0.66771	5.473000	0.66774	1.187000	0.43000	0.536000	0.68110	CGC		0.622	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		12	27	0	0	0	1	0	12	27				
OR10G8	219869	broad.mit.edu	37	11	123901193	123901193	+	Silent	SNP	C	C	T			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr11:123901193C>T	ENST00000431524.1	+	1	897	c.864C>T	c.(862-864)acC>acT	p.T288T		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TTGTGTACACCCTGAGGAACA	0.468																																						ENST00000431524.1																			0				breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(862-864)acC>acT		olfactory receptor, family 10, subfamily G, member 8							111.0	106.0	108.0					11																	123901193		2201	4299	6500	SO:0001819	synonymous_variant	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123901193C>T	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.864C>T	11.37:g.123901193C>T							p.T288T	NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	897	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	288					B2RNJ3|Q6IEV2	Silent	SNP	ENST00000431524.1	37	c.864C>T	CCDS31704.1																																																																																				0.468	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		7	77	0	0	0	1	0	7	77				
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137803	121137805	+	lincRNA	DEL	CCA	CCA	-	rs587674920|rs60375635|rs376116193	byFrequency	TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr1:121137803_121137805delCCA	ENST00000417218.1	+	0	0				RP11-343N15.1_ENST00000437515.1_lincRNA																							ACCGCCGCCGCCACGGCTTTTTG	0.645														2141	0.427516	0.4085	0.451	5008	,	,		10411	0.4157		0.4284	False		,,,				2504	0.4479					ENST00000437515.1																			0																																																			0							g.chr1:121137803_121137805delCCA																													1.37:g.121137803_121137805delCCA														0	329	-									RNA	DEL	ENST00000417218.1	37																																																																																						0.645	AL592494.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000036739.1			2	4						2	4	---	---	---	---
PTX3	5806	broad.mit.edu	37	3	157154729	157154731	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr3:157154729_157154731delCTC	ENST00000295927.3	+	1	152_154	c.7_9delCTC	c.(7-9)ctcdel	p.L4del	VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000392833.2_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	4					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of viral entry into host cell (GO:0046597)|opsonization (GO:0008228)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phagocytosis (GO:0050766)|response to yeast (GO:0001878)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	(1->3)-beta-D-glucan binding (GO:0001872)|complement component C1q binding (GO:0001849)|virion binding (GO:0046790)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			AGCAATGCATCTCCTTGCGATTC	0.493																																						ENST00000295927.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10						c.(7-9)del		pentraxin 3, long																																				SO:0001651	inframe_deletion	5806				inflammatory response	extracellular region		g.chr3:157154729_157154731delCTC	X63613	CCDS3180.1	3q25	2010-03-11	2010-03-11		ENSG00000163661	ENSG00000163661			9692	protein-coding gene	gene with protein product		602492	"""pentaxin-related gene, rapidly induced by IL-1 beta"", ""tumor necrosis factor, alpha-induced protein 5"", ""pentraxin-related gene, rapidly induced by IL-1 beta"""	TNFAIP5		1429570	Standard	NM_002852		Approved	TSG-14	uc003fbl.4	P26022	OTTHUMG00000158750	ENST00000295927.3:c.7_9delCTC	3.37:g.157154729_157154731delCTC	ENSP00000295927:p.Leu4del					VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000543418.1_Intron	p.L4del	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		1	152_154	+			4					B2R6T6|Q38M82	In_Frame_Del	DEL	ENST00000295927.3	37	c.7_9delCTC	CCDS3180.1																																																																																				0.493	PTX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352028.1	NM_002852		64	97						64	97	---	---	---	---
SH3RF1	57630	broad.mit.edu	37	4	170017683	170017690	+	Frame_Shift_Del	DEL	ACAAAGCT	ACAAAGCT	-			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr4:170017683_170017690delACAAAGCT	ENST00000284637.9	-	12	2988_2995	c.2647_2654delAGCTTTGT	c.(2647-2655)agctttgtgfs	p.SFV883fs		NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	883	SH3 4. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TATGTTTTCCACAAAGCTTCCTGGGAAA	0.389																																						ENST00000284637.9																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(2647-2655)gfs		SH3 domain containing ring finger 1																																				SO:0001589	frameshift_variant	57630					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170017683_170017690delACAAAGCT	BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"""RING-type (C3HC4) zinc fingers"""	17650	protein-coding gene	gene with protein product	"""plenty of SH3 domains"""		"""SH3 multiple domains 2"""	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.2647_2654delAGCTTTGT	4.37:g.170017683_170017690delACAAAGCT	ENSP00000284637:p.Ser883fs						p.SFV883fs	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	12	2988_2995	-		Prostate(90;0.00267)|Renal(120;0.0183)	883			SH3 4.		Q05BT2|Q8IW46|Q9HAM2|Q9P234	Frame_Shift_Del	DEL	ENST00000284637.9	37	c.2647_2654delAGCTTTGT	CCDS34099.1																																																																																				0.389	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870		9	77						9	77	---	---	---	---
OR4A15	81328	broad.mit.edu	37	11	55136117	55136118	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr11:55136117_55136118delTT	ENST00000314706.3	+	1	758_759	c.758_759delTT	c.(757-759)cttfs	p.L253fs		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TTACACTCTCTTAAGACTCAGA	0.436																																						ENST00000314706.3																			0				NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						c.(757-759)cfs		olfactory receptor, family 4, subfamily A, member 15																																				SO:0001589	frameshift_variant	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55136117_55136118delTT	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.758_759delTT	11.37:g.55136117_55136118delTT	ENSP00000325065:p.Leu253fs						p.L253fs	NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN			1	758_759	+			253					Q6IFL4|Q96R65	Frame_Shift_Del	DEL	ENST00000314706.3	37	c.758_759delTT	CCDS31500.1																																																																																				0.436	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		7	80						7	80	---	---	---	---
LOC101929350	101929350	broad.mit.edu	37	22	17229222	17229223	+	lincRNA	DEL	CC	CC	-	rs148433359		TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr22:17229222_17229223delCC	ENST00000422917.1	-	0	312_313																											tccccggactccgtctgctgtt	0.639																																						ENST00000422917.1																			0																																																			0							g.chr22:17229222_17229223delCC																													22.37:g.17229222_17229223delCC														0	312_313	-									RNA	DEL	ENST00000422917.1	37																																																																																						0.639	AC005301.8-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331389.1			3	5						3	5	---	---	---	---
