#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
PIEZO2	63895	broad.mit.edu	37	18	10671755	10671755	+	Silent	SNP	T	T	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr18:10671755T>A	ENST00000503781.3	-	52	8027	c.8028A>T	c.(8026-8028)tcA>tcT	p.S2676S	PIEZO2_ENST00000285141.4_Silent_p.S468S|PIEZO2_ENST00000302079.6_Silent_p.S2613S|PIEZO2_ENST00000580640.1_Silent_p.S2701S|PIEZO2_ENST00000538948.1_Silent_p.S633S|PIEZO2_ENST00000581680.1_5'UTR	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2676					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										CAAGGACAACTGAAGCATATA	0.323																																						ENST00000302079.6																			0											c.(7837-7839)tcA>tcT		piezo-type mechanosensitive ion channel component 2							63.0	66.0	65.0					18																	10671755		2203	4300	6503	SO:0001819	synonymous_variant	63895					integral to membrane	ion channel activity	g.chr18:10671755T>A	AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.8028A>T	18.37:g.10671755T>A						PIEZO2_ENST00000503781.3_Silent_p.S2676S|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000538948.1_Silent_p.S633S|PIEZO2_ENST00000580640.1_Silent_p.S2701S|PIEZO2_ENST00000285141.4_Silent_p.S468S	p.S2613S			Q9H5I5	PIEZ2_HUMAN			51	7838	-			2676					B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Silent	SNP	ENST00000503781.3	37	c.7839A>T																																																																																					0.323	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		13	22	0	0	0	1	0	13	22				
ADAM28	10863	broad.mit.edu	37	8	24207446	24207446	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr8:24207446G>A	ENST00000265769.4	+	19	2170	c.2060G>A	c.(2059-2061)cGg>cAg	p.R687Q	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_Silent_p.P435P	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	687					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ATGGTAATCCGGCACCAGAGC	0.478																																					NSCLC(193;488 2149 22258 34798 40734)	ENST00000265769.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2059-2061)cGg>cAg		ADAM metallopeptidase domain 28							153.0	149.0	150.0					8																	24207446		2203	4300	6503	SO:0001583	missense	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24207446G>A	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.2060G>A	8.37:g.24207446G>A	ENSP00000265769:p.Arg687Gln					ADAM28_ENST00000397649.3_Silent_p.P435P|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA	p.R687Q	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	19	2170	+		Prostate(55;0.0959)	687					B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	ENST00000265769.4	37	c.2060G>A	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	G	8.811	0.935303	0.18206	.	.	ENSG00000042980	ENST00000265769	T	0.01516	4.81	5.34	3.53	0.40419	.	.	.	.	.	T	0.02047	0.0064	L	0.48642	1.525	0.09310	N	0.999993	B;B	0.26445	0.149;0.149	B;B	0.14023	0.01;0.01	T	0.45527	-0.9255	9	0.29301	T	0.29	.	7.8923	0.29686	0.1943:0.0:0.8057:0.0	.	687;687	B2RMV5;Q9UKQ2	.;ADA28_HUMAN	Q	687	ENSP00000265769:R687Q	ENSP00000265769:R687Q	R	+	2	0	ADAM28	24263391	0.000000	0.05858	0.001000	0.08648	0.053000	0.15095	0.721000	0.25911	0.731000	0.32448	0.442000	0.29010	CGG		0.478	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		23	48	0	0	0	1	0	23	48				
COLEC11	78989	broad.mit.edu	37	2	3691388	3691388	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr2:3691388G>A	ENST00000349077.4	+	7	599	c.496G>A	c.(496-498)Gcc>Acc	p.A166T	COLEC11_ENST00000402922.1_Missense_Mutation_p.A116T|COLEC11_ENST00000382062.2_Missense_Mutation_p.A142T|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000418971.2_Missense_Mutation_p.A180T|COLEC11_ENST00000402794.1_Missense_Mutation_p.A116T|COLEC11_ENST00000403096.3_Missense_Mutation_p.A140T|COLEC11_ENST00000236693.7_Missense_Mutation_p.A163T|COLEC11_ENST00000404205.1_Missense_Mutation_p.A92T	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	166	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CTACGCGGACGCCCAGCTGTC	0.662																																						ENST00000403096.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22						c.(418-420)Gcc>Acc		collectin sub-family member 11							37.0	38.0	38.0					2																	3691388		2203	4298	6501	SO:0001583	missense	78989					collagen	mannose binding	g.chr2:3691388G>A	BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"""Collectins"""	17213	protein-coding gene	gene with protein product	"""Collectin K1"""	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.496G>A	2.37:g.3691388G>A	ENSP00000339168:p.Ala166Thr					COLEC11_ENST00000404205.1_Missense_Mutation_p.A92T|COLEC11_ENST00000382062.2_Missense_Mutation_p.A142T|COLEC11_ENST00000349077.4_Missense_Mutation_p.A166T|COLEC11_ENST00000236693.7_Missense_Mutation_p.A163T|COLEC11_ENST00000402794.1_Missense_Mutation_p.A116T|COLEC11_ENST00000418971.2_Missense_Mutation_p.A180T|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000402922.1_Missense_Mutation_p.A116T	p.A140T	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.127)	6	909	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		166					A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Missense_Mutation	SNP	ENST00000349077.4	37	c.418G>A	CCDS1649.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.242422	0.58995	.	.	ENSG00000118004	ENST00000382062;ENST00000236693;ENST00000349077;ENST00000418971;ENST00000403096;ENST00000402794;ENST00000404205;ENST00000402922	T;T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6	5.2	4.31	0.51392	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.85682	D	0.000000	D	0.83760	0.5324	H	0.99169	4.455	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.997;0.999;0.999;0.992;0.999;0.966;0.999;0.986;0.997	D	0.90354	0.4368	10	0.72032	D	0.01	-25.4496	14.7991	0.69900	0.0:0.1451:0.8549:0.0	.	92;116;116;140;118;142;142;166;163	Q9BWP8-8;Q9BWP8-7;Q9BWP8-6;Q9BWP8-4;Q9BWP8-5;Q9BWP8-3;Q9BWP8-2;Q9BWP8;Q9BWP8-9	.;.;.;.;.;.;.;COL11_HUMAN;.	T	142;163;166;180;140;116;92;116	ENSP00000371494:A142T;ENSP00000236693:A163T;ENSP00000339168:A166T;ENSP00000411770:A180T;ENSP00000385130:A140T;ENSP00000384882:A116T;ENSP00000385827:A92T;ENSP00000385653:A116T	ENSP00000236693:A163T	A	+	1	0	COLEC11	3669263	1.000000	0.71417	0.352000	0.25734	0.007000	0.05969	9.743000	0.98849	1.157000	0.42530	-0.499000	0.04595	GCC		0.662	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206666.1	NM_024027		20	54	0	0	0	1	0	20	54				
PTCH2	8643	broad.mit.edu	37	1	45294292	45294292	+	Silent	SNP	G	G	A	rs569864866		TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr1:45294292G>A	ENST00000372192.3	-	12	1606	c.1476C>T	c.(1474-1476)ggC>ggT	p.G492G	PTCH2_ENST00000447098.2_Silent_p.G492G	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	492	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GCAGACACTCGCCCATGCGCT	0.632									Basal Cell Nevus syndrome																													ENST00000447098.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50						c.(1474-1476)ggC>ggT		patched 2							73.0	56.0	62.0					1																	45294292		2202	4300	6502	SO:0001819	synonymous_variant	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45294292G>A	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.1476C>T	1.37:g.45294292G>A						PTCH2_ENST00000372192.3_Silent_p.G492G	p.G492G	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN			12	1487	-	Acute lymphoblastic leukemia(166;0.155)		492			SSD.		O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Silent	SNP	ENST00000372192.3	37	c.1476C>T	CCDS516.1																																																																																				0.632	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		5	9	0	0	0	1	0	5	9				
CTTNBP2	83992	broad.mit.edu	37	7	117424371	117424371	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr7:117424371C>T	ENST00000160373.3	-	5	2297	c.2206G>A	c.(2206-2208)Gac>Aac	p.D736N		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	736					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TAATTAATGTCCAGTCCTTCT	0.478																																						ENST00000160373.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(2206-2208)Gac>Aac		cortactin binding protein 2							143.0	148.0	146.0					7																	117424371		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117424371C>T		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.2206G>A	7.37:g.117424371C>T	ENSP00000160373:p.Asp736Asn						p.D736N	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	5	2297	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		736					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.2206G>A	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.263014|4.263014	0.80358|0.80358	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000160373|ENST00000446636	T|.	0.56611|.	0.45|.	5.35|5.35	5.35|5.35	0.76521|0.76521	Ankyrin repeat-containing domain (4);|.	0.210799|.	0.52532|.	D|.	0.000078|.	T|T	0.65770|0.65770	0.2723|0.2723	L|L	0.36672|0.36672	1.1|1.1	0.48185|0.48185	D|D	0.999606|0.999606	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.60500|0.60500	-0.7251|-0.7251	10|5	0.72032|.	D|.	0.01|.	-2.4289|-2.4289	19.4186|19.4186	0.94712|0.94712	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	736|.	Q8WZ74|.	CTTB2_HUMAN|.	N|E	736|223	ENSP00000160373:D736N|.	ENSP00000160373:D736N|.	D|G	-|-	1|2	0|0	CTTNBP2|CTTNBP2	117211607|117211607	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.491000|5.491000	0.66887|0.66887	2.647000|2.647000	0.89833|0.89833	0.655000|0.655000	0.94253|0.94253	GAC|GGA		0.478	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		31	105	0	0	0	1	0	31	105				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000544772.1_Silent_p.S151S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		4	40	0	0	0	1	0	4	40				
MAK16	84549	broad.mit.edu	37	8	33356082	33356082	+	Silent	SNP	C	C	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr8:33356082C>A	ENST00000360128.6	+	10	1295	c.838C>A	c.(838-840)Cga>Aga	p.R280R	TTI2_ENST00000519356.1_Intron	NM_032509.3	NP_115898.2	Q9BXY0	MAK16_HUMAN	MAK16 homolog (S. cerevisiae)	280						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						GCAGAGAAAACGAGCCTATGT	0.483																																						ENST00000360128.6																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						c.(838-840)Cga>Aga		MAK16 homolog (S. cerevisiae)							77.0	78.0	77.0					8																	33356082		2203	4300	6503	SO:0001819	synonymous_variant	84549					nucleolus		g.chr8:33356082C>A	AF251062	CCDS6089.1	8p12	2011-10-13	2008-06-04	2008-06-04	ENSG00000198042	ENSG00000198042		"""RNA binding motif (RRM) containing"""	13703	protein-coding gene	gene with protein product			"""RNA binding motif protein 13"""	RBM13			Standard	NM_032509		Approved	MAK16L	uc003xjj.3	Q9BXY0	OTTHUMG00000163957	ENST00000360128.6:c.838C>A	8.37:g.33356082C>A						TTI2_ENST00000519356.1_Intron	p.R280R	NM_032509.3	NP_115898.2	Q9BXY0	MAK16_HUMAN			10	1295	+			280					B2RB44|Q5U5T1|Q86UC4|Q96SY6	Silent	SNP	ENST00000360128.6	37	c.838C>A	CCDS6089.1																																																																																				0.483	MAK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376559.3	NM_032509		17	56	1	0	1.99824e-07	1	1.99824e-07	17	56				
ENPEP	2028	broad.mit.edu	37	4	111398156	111398156	+	Missense_Mutation	SNP	C	C	A	rs112068198	byFrequency	TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr4:111398156C>A	ENST00000265162.5	+	1	928	c.586C>A	c.(586-588)Ctg>Atg	p.L196M		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	196					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		CGCCGGCTGGCTGAACGGCTC	0.502																																						ENST00000265162.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(586-588)Ctg>Atg		glutamyl aminopeptidase (aminopeptidase A)	L-Glutamic Acid(DB00142)						51.0	57.0	55.0					4																	111398156		2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111398156C>A	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.586C>A	4.37:g.111398156C>A	ENSP00000265162:p.Leu196Met						p.L196M	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	1	928	+		Hepatocellular(203;0.217)	196					Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.586C>A	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384846	0.61956	.	.	ENSG00000138792	ENST00000265162	T	0.03468	3.92	5.43	4.58	0.56647	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.18299	0.0439	M	0.80422	2.495	0.58432	D	0.999999	D	0.76494	0.999	D	0.73708	0.981	T	0.00745	-1.1584	10	0.48119	T	0.1	.	14.5665	0.68179	0.0:0.9285:0.0:0.0715	.	196	Q07075	AMPE_HUMAN	M	196	ENSP00000265162:L196M	ENSP00000265162:L196M	L	+	1	2	ENPEP	111617605	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.987000	0.49378	1.257000	0.44085	0.561000	0.74099	CTG		0.502	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			20	50	1	0	7.45023e-12	1	7.77066e-12	20	50				
CDH8	1006	broad.mit.edu	37	16	62055208	62055208	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr16:62055208G>A	ENST00000577390.1	-	2	1054	c.100C>T	c.(100-102)Cag>Tag	p.Q34*	CDH8_ENST00000299345.6_Nonsense_Mutation_p.Q34*|CDH8_ENST00000577730.1_Nonsense_Mutation_p.Q34*|CDH8_ENST00000584337.1_Nonsense_Mutation_p.Q34*	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	34					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ACTTGAGACTGATTCATCGGA	0.443																																						ENST00000577390.1																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(100-102)Cag>Tag		cadherin 8, type 2							82.0	83.0	82.0					16																	62055208		2203	4300	6503	SO:0001587	stop_gained	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:62055208G>A	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.100C>T	16.37:g.62055208G>A	ENSP00000462701:p.Gln34*					CDH8_ENST00000299345.6_Nonsense_Mutation_p.Q34*|CDH8_ENST00000577730.1_Nonsense_Mutation_p.Q34*|CDH8_ENST00000584337.1_Nonsense_Mutation_p.Q34*	p.Q34*	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	2	1054	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	34					B3KWC1|Q14DC6|Q9ULB2	Nonsense_Mutation	SNP	ENST00000577390.1	37	c.100C>T	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	G	45	11.951538	0.99621	.	.	ENSG00000150394	ENST00000299345	.	.	.	6.17	6.17	0.99709	.	0.543154	0.21048	N	0.081043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	16.2608	0.82541	0.0:0.1316:0.8683:0.0	.	.	.	.	X	34	.	ENSP00000299345:Q34X	Q	-	1	0	CDH8	60612709	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	5.896000	0.69822	2.941000	0.99782	0.655000	0.94253	CAG		0.443	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		9	20	0	0	0	1	0	9	20				
CARD11	84433	broad.mit.edu	37	7	2983911	2983911	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr7:2983911G>A	ENST00000396946.4	-	5	1022	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	207					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGTGCGTAGCGCATGGCTAAG	0.567			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(619-621)Cgc>Tgc		caspase recruitment domain family, member 11							244.0	145.0	178.0					7																	2983911		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2983911G>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.619C>T	7.37:g.2983911G>A	ENSP00000380150:p.Arg207Cys					AC004906.3_ENST00000423194.1_RNA	p.R207C	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	5	1022	-		Ovarian(82;0.0115)	207					A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.619C>T	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	16.23	3.063123	0.55432	.	.	ENSG00000198286	ENST00000396946	T	0.37915	1.17	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.52158	0.1717	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54589	-0.8271	10	0.87932	D	0	-30.9222	10.5858	0.45282	0.0:0.0:0.6588:0.3412	.	207	Q9BXL7	CAR11_HUMAN	C	207	ENSP00000380150:R207C	ENSP00000380150:R207C	R	-	1	0	CARD11	2950437	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	2.784000	0.47774	2.029000	0.59856	0.561000	0.74099	CGC		0.567	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		17	87	0	0	0	1	0	17	87				
PLCG2	5336	broad.mit.edu	37	16	81953229	81953229	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr16:81953229G>A	ENST00000359376.3	+	20	2409	c.2195G>A	c.(2194-2196)cGc>cAc	p.R732H		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	732	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						ATGAGACTGCGCTACCCCGTG	0.537																																						ENST00000359376.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(2194-2196)cGc>cAc		phospholipase C, gamma 2 (phosphatidylinositol-specific)							67.0	72.0	71.0					16																	81953229		1953	4126	6079	SO:0001583	missense	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81953229G>A		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.2195G>A	16.37:g.81953229G>A	ENSP00000352336:p.Arg732His						p.R732H	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			20	2409	+			732			SH2 2.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	c.2195G>A	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	G	35	5.423288	0.96111	.	.	ENSG00000197943	ENST00000359376	T	0.67865	-0.29	5.16	5.16	0.70880	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);SH2 motif (2);	0.000000	0.85682	D	0.000000	D	0.82995	0.5158	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.81914	0.862;0.995	D	0.84809	0.0789	10	0.56958	D	0.05	.	18.6547	0.91448	0.0:0.0:1.0:0.0	.	599;732	B4E3H3;P16885	.;PLCG2_HUMAN	H	732	ENSP00000352336:R732H	ENSP00000352336:R732H	R	+	2	0	PLCG2	80510730	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.671000	0.98627	2.392000	0.81423	0.655000	0.94253	CGC		0.537	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			26	39	0	0	0	1	0	26	39				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		4	39	0	0	0	1	0	4	39				
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T	rs558255572		TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	62								p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333													.|||	1	0.000199681	0.0	0.0014	5008	,	,		30607	0.0		0.0	False		,,,				2504	0.0					ENST00000278882.3																			2	Substitution - Missense(2)	p.D62V(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(184-186)gAt>gTt																																						SO:0001583	missense	0							g.chr20:29625941A>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.185A>T	20.37:g.29625941A>T	ENSP00000278882:p.Asp62Val					FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V	p.D62V							5	565	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.185A>T		.	.	.	.	.	.	.	.	.	.	a	11.46	1.644922	0.29246	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.55930	0.49	1.68	1.68	0.24146	.	0.000000	0.85682	U	0.000000	T	0.67316	0.2880	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.68300	-0.5445	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	67	F5H5R5	.	V	62;67;62	ENSP00000408863:D67V	ENSP00000278882:D62V	D	+	2	0	FRG1B	28239602	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	7.682000	0.84083	1.028000	0.39785	0.155000	0.16302	GAT		0.333	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				
HLA-DPB1	3115	broad.mit.edu	37	6	33052887	33052887	+	Silent	SNP	C	C	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr6:33052887C>A	ENST00000418931.2	+	3	641	c.525C>A	c.(523-525)atC>atA	p.I175I		NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	175	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	peptide antigen binding (GO:0042605)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						CCAACCTGATCCGTAATGGAG	0.552																																						ENST00000418931.2																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						c.(523-525)atC>atA		major histocompatibility complex, class II, DP beta 1							131.0	123.0	126.0					6																	33052887		1511	2709	4220	SO:0001819	synonymous_variant	3115				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex		g.chr6:33052887C>A		CCDS4765.1	6p21.3	2013-01-11			ENSG00000223865	ENSG00000223865		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4940	protein-coding gene	gene with protein product		142858		HLA-DP1B			Standard	NM_002121		Approved		uc003ocu.2	P04440	OTTHUMG00000031076	ENST00000418931.2:c.525C>A	6.37:g.33052887C>A							p.I175I	NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN			3	641	+			175			Beta-2.|Ig-like C1-type.		A0PFJ7|A5I886|A8YPB3|B5U8B4|B7VF80|B7VF87|B8ZX68|B8ZYT0|B9W5S8|B9W6F7|B9W6F9|C0MPP5|C0MPQ2|C0MPQ3|C0MPQ5|C0MPQ6|C0MPQ7|C4R9J5|C5IZL1|O00259|O19698|O19700|O19702|O19749|O46884|O77952|O98215|O98216|O98217|O98218|O98219|O98222|O98223|P01916|P04232|P13763|P79493|P79608|Q0P0L4|Q0ZFN3|Q14279|Q27S71|Q29682|Q29684|Q29698|Q29714|Q29775|Q29776|Q29778|Q29779|Q29781|Q29827|Q29828|Q29879|Q29880|Q29898|Q29977|Q2MGW3|Q30015|Q30031|Q30032|Q30033|Q30034|Q30050|Q30051|Q30052|Q30053|Q30054|Q30055|Q30174|Q4GY31|Q4JHD8|Q5ENE0|Q5ENE1|Q5ENW3|Q5EP46|Q5EP47|Q5EP49|Q5EP51|Q5EP52|Q5EP53|Q5EP56|Q5I4H8|Q5I4H9|Q5ISH4|Q5ISH5|Q5SQ73|Q5STP2|Q5YLA6|Q6IVX1|Q6LBX2|Q6LBX3|Q6LBX4|Q6LBX5|Q6LBX6|Q6LBX7|Q6PWX6|Q6TAS4|Q714U1|Q714U2|Q7YQ10|Q860Z7|Q8HWL7|Q8HWT5|Q8SNC4|Q95HC1|Q95IT7|Q95IT8|Q9BD13|Q9GIM2|Q9GIM4|Q9GIX6|Q9GJ41|Q9MY67|Q9TNT7|Q9TQE2|Q9XS11|Q9XS12	Silent	SNP	ENST00000418931.2	37	c.525C>A	CCDS4765.1	.	.	.	.	.	.	.	.	.	.	C	6.641	0.486716	0.12641	.	.	ENSG00000223865	ENST00000416804	.	.	.	4.04	3.16	0.36331	.	.	.	.	.	T	0.12008	0.0292	.	.	.	0.23186	N	0.998153	.	.	.	.	.	.	T	0.20974	-1.0259	4	.	.	.	.	5.2066	0.15295	0.2018:0.691:0.0:0.1072	.	.	.	.	Y	142	.	.	S	+	2	0	HLA-DPB1	33160865	0.000000	0.05858	0.604000	0.28916	0.812000	0.45895	-0.584000	0.05800	1.048000	0.40298	0.544000	0.68410	TCC		0.552	HLA-DPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076106.2	NM_002121		24	64	1	0	4.72057e-08	1	4.81995e-08	24	64				
TRPV5	56302	broad.mit.edu	37	7	142627452	142627452	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr7:142627452C>T	ENST00000265310.1	-	2	566	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	TRPV5_ENST00000442623.1_Missense_Mutation_p.R73Q	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	73					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACCTCTTTGTCGAACGTCACA	0.512																																						ENST00000265310.1																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67						c.(217-219)cGa>cAa		transient receptor potential cation channel, subfamily V, member 5							148.0	123.0	132.0					7																	142627452		2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142627452C>T	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.218G>A	7.37:g.142627452C>T	ENSP00000265310:p.Arg73Gln					TRPV5_ENST00000442623.1_Missense_Mutation_p.R73Q	p.R73Q	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN			2	566	-	Melanoma(164;0.059)		73					A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.218G>A	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.542970	0.27563	.	.	ENSG00000127412	ENST00000265310;ENST00000439304;ENST00000442623	T;T;T	0.64085	0.64;0.64;-0.08	4.44	-3.2	0.05156	Ankyrin repeat-containing domain (3);	0.521516	0.20929	N	0.083131	T	0.36771	0.0979	N	0.19112	0.55	0.09310	N	1	B;B	0.22003	0.063;0.06	B;B	0.18561	0.022;0.019	T	0.21552	-1.0242	10	0.18276	T	0.48	-17.563	8.2906	0.31954	0.1303:0.1753:0.0:0.6944	.	73;73	E9PBZ6;Q9NQA5	.;TRPV5_HUMAN	Q	73;67;73	ENSP00000265310:R73Q;ENSP00000406361:R67Q;ENSP00000406572:R73Q	ENSP00000265310:R73Q	R	-	2	0	TRPV5	142337574	0.000000	0.05858	0.001000	0.08648	0.889000	0.51656	-0.626000	0.05527	-0.582000	0.05929	0.467000	0.42956	CGA		0.512	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		23	56	0	0	0	1	0	23	56				
SAMD15	161394	broad.mit.edu	37	14	77844618	77844618	+	Missense_Mutation	SNP	C	C	T	rs201418471		TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr14:77844618C>T	ENST00000216471.4	+	1	1143	c.857C>T	c.(856-858)cCa>cTa	p.P286L	TMED8_ENST00000216468.7_5'Flank|SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	286										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GAGACTCAACCAGAGGTTCCA	0.512																																						ENST00000216471.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(856-858)cCa>cTa		sterile alpha motif domain containing 15							69.0	73.0	72.0					14																	77844618		2203	4300	6503	SO:0001583	missense	161394							g.chr14:77844618C>T	AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"""Sterile alpha motif (SAM) domain containing"""	18631	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member A"", ""chromosome 14 open reading frame 174"""	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.857C>T	14.37:g.77844618C>T	ENSP00000216471:p.Pro286Leu					SAMD15_ENST00000533095.2_Intron	p.P286L	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN			1	1143	+			286					Q2M3P3	Missense_Mutation	SNP	ENST00000216471.4	37	c.857C>T	CCDS32126.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221152	0.79464	.	.	ENSG00000100583	ENST00000216471	T	0.30714	1.52	4.93	4.93	0.64822	.	0.819211	0.09984	N	0.730631	T	0.32010	0.0815	N	0.25890	0.77	0.35098	D	0.764911	D	0.54207	0.965	P	0.48598	0.583	T	0.25222	-1.0138	10	0.27785	T	0.31	.	15.645	0.77042	0.0:1.0:0.0:0.0	.	286	Q9P1V8	SAM15_HUMAN	L	286	ENSP00000216471:P286L	ENSP00000216471:P286L	P	+	2	0	SAMD15	76914371	0.010000	0.17322	0.009000	0.14445	0.391000	0.30476	0.452000	0.21795	2.297000	0.77311	0.555000	0.69702	CCA		0.512	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860		25	46	0	0	0	1	0	25	46				
PMFBP1	83449	broad.mit.edu	37	16	72166638	72166638	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr16:72166638G>A	ENST00000537465.1	-	10	1614	c.1456C>T	c.(1456-1458)Cct>Tct	p.P486S	PMFBP1_ENST00000237353.10_Intron|PMFBP1_ENST00000355636.6_Intron			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	486						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GCACCTGCAGGGGCCTCACCA	0.632																																						ENST00000537465.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45						c.(1456-1458)Cct>Tct		polyamine modulated factor 1 binding protein 1							80.0	75.0	77.0					16																	72166638		2198	4300	6498	SO:0001583	missense	83449							g.chr16:72166638G>A	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000537465.1:c.1456C>T	16.37:g.72166638G>A	ENSP00000443817:p.Pro486Ser					PMFBP1_ENST00000237353.10_Intron|PMFBP1_ENST00000355636.6_Intron	p.P486S			Q8TBY8	PMFBP_HUMAN			10	1614	-		Ovarian(137;0.179)	486					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000537465.1	37	c.1456C>T		.	.	.	.	.	.	.	.	.	.	G	14.15	2.448088	0.43429	.	.	ENSG00000118557	ENST00000537465	T	0.10668	2.85	4.46	1.44	0.22558	.	.	.	.	.	T	0.07863	0.0197	.	.	.	0.80722	D	1	B	0.19331	0.035	B	0.14023	0.01	T	0.18967	-1.0320	8	0.41790	T	0.15	.	7.3952	0.26931	0.2935:0.0:0.7065:0.0	.	486	G3V1Q7	.	S	486	ENSP00000443817:P486S	ENSP00000443817:P486S	P	-	1	0	PMFBP1	70724139	0.615000	0.27026	0.579000	0.28588	0.561000	0.35649	0.713000	0.25794	0.583000	0.29574	0.561000	0.74099	CCT		0.632	PMFBP1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000396483.2	NM_031293		12	45	0	0	0	1	0	12	45				
KANK3	256949	broad.mit.edu	37	19	8389602	8389602	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:8389602G>A	ENST00000593649.1	-	9	2260	c.2195C>T	c.(2194-2196)gCg>gTg	p.A732V	KANK3_ENST00000330915.3_Missense_Mutation_p.A732V			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	732										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						ACACATCAGCGCTGTGGCCCC	0.637																																						ENST00000330915.3																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						c.(2194-2196)gCg>gTg		KN motif and ankyrin repeat domains 3							60.0	49.0	52.0					19																	8389602		2203	4300	6503	SO:0001583	missense	256949							g.chr19:8389602G>A	AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	24796	protein-coding gene	gene with protein product		614611	"""ankyrin repeat domain 47"""	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.2195C>T	19.37:g.8389602G>A	ENSP00000470728:p.Ala732Val					KANK3_ENST00000593649.1_Missense_Mutation_p.A732V	p.A732V	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN			9	2260	-			732					Q6NZI1|Q6ZQR3|Q8IUV2	Missense_Mutation	SNP	ENST00000593649.1	37	c.2195C>T		.	.	.	.	.	.	.	.	.	.	G	19.87	3.906534	0.72868	.	.	ENSG00000186994	ENST00000330915	T	0.70399	-0.48	4.78	4.78	0.61160	.	.	.	.	.	T	0.81187	0.4770	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82800	-0.0278	9	0.66056	D	0.02	-12.7014	16.5355	0.84372	0.0:0.0:1.0:0.0	.	732	Q6NY19-2	.	V	732	ENSP00000328923:A732V	ENSP00000328923:A732V	A	-	2	0	KANK3	8295602	1.000000	0.71417	0.242000	0.24170	0.180000	0.23129	9.484000	0.97940	2.474000	0.83562	0.561000	0.74099	GCG		0.637	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1	NM_198471		20	54	0	0	0	1	0	20	54				
ZNF492	57615	broad.mit.edu	37	19	22847685	22847685	+	Missense_Mutation	SNP	C	C	T	rs201770409		TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:22847685C>T	ENST00000456783.2	+	4	1458	c.1214C>T	c.(1213-1215)tCg>tTg	p.S405L	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	405					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				TTTAACCTATCGTCACAACTT	0.383																																						ENST00000456783.2																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1213-1215)tCg>tTg		zinc finger protein 492		C	LEU/SER	1,4323		0,1,2161	65.0	69.0	67.0		1214	-2.2	0.0	19		67	3,8547		0,3,4272	no	missense	ZNF492	NM_020855.2	145	0,4,6433	TT,TC,CC		0.0351,0.0231,0.0311	benign	405/532	22847685	4,12870	2162	4275	6437	SO:0001583	missense	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22847685C>T	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.1214C>T	19.37:g.22847685C>T	ENSP00000413660:p.Ser405Leu						p.S405L	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN			4	1458	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	405					Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	c.1214C>T	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	3.343	-0.134107	0.06711	2.31E-4	3.51E-4	ENSG00000229676	ENST00000456783	T	0.01197	5.19	1.12	-2.25	0.06888	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00815	0.0027	N	0.20328	0.56	0.09310	N	1	B	0.16396	0.017	B	0.10450	0.005	T	0.47328	-0.9126	9	0.42905	T	0.14	.	2.7311	0.05227	0.4695:0.2866:0.2439:0.0	.	405	Q9P255	ZN492_HUMAN	L	405	ENSP00000413660:S405L	ENSP00000413660:S405L	S	+	2	0	ZNF492	22639525	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-3.878000	0.00344	0.269000	0.21961	0.274000	0.19336	TCG		0.383	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		8	49	0	0	0	1	0	8	49				
PHGDH	26227	broad.mit.edu	37	1	120254648	120254648	+	Start_Codon_SNP	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr1:120254648G>A	ENST00000369409.4	+	1	139	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	1					brain development (GO:0007420)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|G1 to G0 transition (GO:0070314)|gamma-aminobutyric acid metabolic process (GO:0009448)|glial cell development (GO:0021782)|glutamine metabolic process (GO:0006541)|glycine metabolic process (GO:0006544)|L-serine biosynthetic process (GO:0006564)|neural tube development (GO:0021915)|neuron projection development (GO:0031175)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|taurine metabolic process (GO:0019530)|threonine metabolic process (GO:0006566)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|phosphoglycerate dehydrogenase activity (GO:0004617)	p.M1I(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)		CTCCAGCAATGGCTTTTGCAA	0.557																																						ENST00000369409.4																			1	Substitution - Missense(1)	p.M1I(1)	kidney(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(1-3)atG>atA		phosphoglycerate dehydrogenase	NADH(DB00157)						80.0	78.0	79.0					1																	120254648		2203	4300	6503	SO:0001582	initiator_codon_variant	26227				brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity	g.chr1:120254648G>A	BC011262	CCDS904.1	1p12	2008-02-05			ENSG00000092621	ENSG00000092621	1.1.1.95		8923	protein-coding gene	gene with protein product		606879					Standard	NM_006623		Approved	SERA, PGDH, PDG	uc001ehz.3	O43175	OTTHUMG00000012100	ENST00000369409.4:c.3G>A	1.37:g.120254648G>A	ENSP00000358417:p.Met1Ile						p.M1I	NM_006623.3	NP_006614.2	O43175	SERA_HUMAN		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	1	139	+	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)	1					B2RD08|Q5SZU3|Q9BQ01	Translation_Start_Site	SNP	ENST00000369409.4	37	c.3G>A	CCDS904.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.364402	0.61513	.	.	ENSG00000092621	ENST00000369409	D	0.90444	-2.67	5.22	5.22	0.72569	.	0.077039	0.85682	D	0.000000	D	0.84288	0.5439	.	.	.	0.80722	D	1	P	0.48407	0.91	B	0.38378	0.272	D	0.87900	0.2690	9	0.87932	D	0	-24.2015	15.5122	0.75793	0.0:0.0:1.0:0.0	.	1	O43175	SERA_HUMAN	I	1	ENSP00000358417:M1I	ENSP00000358417:M1I	M	+	3	0	PHGDH	120056171	1.000000	0.71417	0.999000	0.59377	0.325000	0.28411	8.091000	0.89528	2.446000	0.82766	0.561000	0.74099	ATG		0.557	PHGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033464.1	NM_006623	Missense_Mutation	16	38	0	0	0	1	0	16	38				
IGKV1D-17	28900	broad.mit.edu	37	2	90121979	90121979	+	RNA	SNP	C	C	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr2:90121979C>A	ENST00000483379.1	+	0	378									immunoglobulin kappa variable 1D-17																		GGGAAAGTCCCTAAGCACCTG	0.507																																						ENST00000483379.1																			0																				186.0	168.0	174.0					2																	90121979		1935	4128	6063			0							g.chr2:90121979C>A	X63392		2p11.2	2012-02-08			ENSG00000242766	ENSG00000242766		"""Immunoglobulins / IGK locus"""	5749	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151610		2.37:g.90121979C>A														0	378	+									RNA	SNP	ENST00000483379.1	37																																																																																						0.507	IGKV1D-17-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323282.1	NG_000833		9	158	1	0	1.76689e-08	1	1.82328e-08	9	158				
MAGEA11	4110	broad.mit.edu	37	X	148798319	148798319	+	Silent	SNP	C	C	T	rs376112940		TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chrX:148798319C>T	ENST00000355220.5	+	5	1275	c.1173C>T	c.(1171-1173)caC>caT	p.H391H	MAGEA11_ENST00000333104.4_Silent_p.H362H	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	391	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CAAGGGCCCACGCTGAGACCA	0.527																																						ENST00000355220.5																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9						c.(1171-1173)caC>caT		melanoma antigen family A, 11		C	,	1,3834		0,1,1631,571	153.0	131.0	138.0		1086,1173	-0.3	0.1	X		138	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous	MAGEA11	NM_001011544.1,NM_005366.4	,	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	,	362/401,391/430	148798319	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	4110					cytoplasm|nucleus	protein binding	g.chrX:148798319C>T		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"""MAGE-11 antigen"", ""melanoma-associated antigen 11"", ""cancer/testis antigen family 1, member 11"""	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.1173C>T	X.37:g.148798319C>T						MAGEA11_ENST00000333104.4_Silent_p.H362H	p.H391H	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN			5	1275	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		391			MAGE.		Q5ETU4|Q6ZRZ5	Silent	SNP	ENST00000355220.5	37	c.1173C>T	CCDS48180.1																																																																																				0.527	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		69	25	0	0	0	1	0	69	25				
CABIN1	23523	broad.mit.edu	37	22	24451502	24451502	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr22:24451502A>G	ENST00000398319.2	+	9	1358	c.973A>G	c.(973-975)Agc>Ggc	p.S325G	CABIN1_ENST00000263119.5_Missense_Mutation_p.S325G|CABIN1_ENST00000405822.2_Missense_Mutation_p.S275G	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	325					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GATCCAGCCAAGCACTGTCAG	0.577																																						ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(973-975)Agc>Ggc		calcineurin binding protein 1							115.0	99.0	104.0					22																	24451502		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24451502A>G	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.973A>G	22.37:g.24451502A>G	ENSP00000381364:p.Ser325Gly					CABIN1_ENST00000405822.2_Missense_Mutation_p.S275G|CABIN1_ENST00000263119.5_Missense_Mutation_p.S325G	p.S325G	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			9	1358	+			325					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.973A>G	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	A	10.98	1.505723	0.26949	.	.	ENSG00000099991	ENST00000454754;ENST00000263119;ENST00000405822;ENST00000445422;ENST00000398319;ENST00000536026	T;T;T;T;T	0.68903	0.32;-0.06;-0.36;0.25;-0.06	4.95	1.59	0.23543	.	0.414754	0.30338	N	0.009851	T	0.47820	0.1466	L	0.36672	1.1	0.31678	N	0.643538	B;B;B;B	0.27140	0.169;0.167;0.066;0.039	B;B;B;B	0.31101	0.115;0.124;0.053;0.024	T	0.35968	-0.9767	10	0.23302	T	0.38	.	1.7063	0.02882	0.5702:0.1415:0.1523:0.1361	.	280;325;275;325	C9J068;F5H5W5;G5E9F3;Q9Y6J0	.;.;.;CABIN_HUMAN	G	280;325;275;280;325;325	ENSP00000394209:S280G;ENSP00000263119:S325G;ENSP00000384694:S275G;ENSP00000412389:S280G;ENSP00000381364:S325G	ENSP00000263119:S325G	S	+	1	0	CABIN1	22781502	0.000000	0.05858	0.095000	0.20976	0.540000	0.34992	0.612000	0.24283	0.105000	0.17753	0.524000	0.50904	AGC		0.577	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		25	67	0	0	0	1	0	25	67				
GOLGA5	9950	broad.mit.edu	37	14	93276685	93276685	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr14:93276685C>T	ENST00000163416.2	+	5	1335	c.1079C>T	c.(1078-1080)aCt>aTt	p.T360I	GOLGA5_ENST00000355976.2_Missense_Mutation_p.T360I	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	360					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		GCGGATGCCACTCTGAAGAGA	0.433			T	RET	papillary thyroid																																	ENST00000163416.2				Dom	yes		14	14q	9950	T	"""golgi autoantigen, golgin subfamily a, 5  (PTC5)"""			E	RET		papillary thyroid		0				large_intestine(6)|lung(1)|ovary(2)	9						c.(1078-1080)aCt>aTt		golgin A5							84.0	91.0	89.0					14																	93276685		2203	4300	6503	SO:0001583	missense	9950				Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding	g.chr14:93276685C>T	AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"""golgi integral membrane protein 5"""	606918	"""golgi autoantigen, golgin subfamily a, 5"""			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.1079C>T	14.37:g.93276685C>T	ENSP00000163416:p.Thr360Ile					GOLGA5_ENST00000355976.2_Missense_Mutation_p.T360I	p.T360I	NM_005113.2	NP_005104.2	Q8TBA6	GOGA5_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	5	1335	+		all_cancers(154;0.0934)	360					C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Missense_Mutation	SNP	ENST00000163416.2	37	c.1079C>T	CCDS9905.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365791	0.41902	.	.	ENSG00000066455	ENST00000163416;ENST00000355976;ENST00000439315	T;T	0.46451	0.87;0.87	5.63	3.81	0.43845	.	0.421276	0.19942	N	0.102639	T	0.37812	0.1017	L	0.50333	1.59	0.09310	N	1	B	0.32467	0.372	B	0.34093	0.175	T	0.23833	-1.0177	10	0.45353	T	0.12	-1.1423	11.1292	0.48336	0.1287:0.8047:0.0:0.0666	.	360	Q8TBA6	GOGA5_HUMAN	I	360;360;269	ENSP00000163416:T360I;ENSP00000348252:T360I	ENSP00000163416:T360I	T	+	2	0	GOLGA5	92346438	0.008000	0.16893	0.124000	0.21820	0.734000	0.41952	2.394000	0.44450	0.847000	0.35167	0.591000	0.81541	ACT		0.433	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1			10	18	0	0	0	1	0	10	18				
SERPINB7	8710	broad.mit.edu	37	18	61449715	61449715	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr18:61449715G>A	ENST00000398019.2	+	2	434	c.109G>A	c.(109-111)Gct>Act	p.A37T	SERPINB7_ENST00000540675.1_Missense_Mutation_p.A37T|SERPINB7_ENST00000546027.1_Missense_Mutation_p.A37T|SERPINB7_ENST00000336429.2_Missense_Mutation_p.A37T	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	37					negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GAGCCTCTTCGCTGCCCTGGC	0.483																																						ENST00000398019.2																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27						c.(109-111)Gct>Act		serpin peptidase inhibitor, clade B (ovalbumin), member 7							118.0	97.0	104.0					18																	61449715		2203	4300	6503	SO:0001583	missense	8710				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61449715G>A	AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"""Serine (or cysteine) peptidase inhibitors"""	13902	protein-coding gene	gene with protein product		603357	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"""			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.109G>A	18.37:g.61449715G>A	ENSP00000381101:p.Ala37Thr					SERPINB7_ENST00000336429.2_Missense_Mutation_p.A37T|SERPINB7_ENST00000546027.1_Missense_Mutation_p.A37T|SERPINB7_ENST00000540675.1_Missense_Mutation_p.A37T	p.A37T	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN			2	434	+		Esophageal squamous(42;0.129)	37					B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Missense_Mutation	SNP	ENST00000398019.2	37	c.109G>A	CCDS11988.1	.	.	.	.	.	.	.	.	.	.	G	1.446	-0.566303	0.03910	.	.	ENSG00000166396	ENST00000425392;ENST00000336429;ENST00000398019;ENST00000540675;ENST00000447428;ENST00000546027;ENST00000431370	D;T;T;T;D;T;D	0.87412	-2.25;2.8;2.8;2.8;-1.6;2.8;-2.25	5.88	1.8	0.24995	Serpin domain (3);	0.362305	0.23904	N	0.043403	T	0.56543	0.1992	N	0.00890	-1.11	0.21897	N	0.999483	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.50709	-0.8796	10	0.15952	T	0.53	.	1.6659	0.02802	0.5694:0.1402:0.1551:0.1352	.	37;37	F5GZC0;O75635	.;SPB7_HUMAN	T	37	ENSP00000397301:A37T;ENSP00000337212:A37T;ENSP00000381101:A37T;ENSP00000444572:A37T;ENSP00000402362:A37T;ENSP00000444861:A37T;ENSP00000393947:A37T	ENSP00000337212:A37T	A	+	1	0	SERPINB7	59600695	0.484000	0.25964	0.960000	0.40013	0.591000	0.36615	0.479000	0.22228	0.483000	0.27608	-0.658000	0.03865	GCT		0.483	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1	NM_003784		16	31	0	0	0	1	0	16	31				
ACSL1	2180	broad.mit.edu	37	4	185678385	185678385	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr4:185678385G>A	ENST00000515030.1	-	21	2316	c.1991C>T	c.(1990-1992)tCt>tTt	p.S664F	ACSL1_ENST00000281455.2_Missense_Mutation_p.S664F|ACSL1_ENST00000504342.1_Missense_Mutation_p.S664F|ACSL1_ENST00000513317.1_Missense_Mutation_p.S664F|ACSL1_ENST00000507295.1_Missense_Mutation_p.S630F|ACSL1_ENST00000454703.2_Missense_Mutation_p.S493F|ACSL1_ENST00000437665.3_Missense_Mutation_p.S493F			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	664					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ATTGTCGATAGAAAATAATTC	0.453																																						ENST00000515030.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38						c.(1990-1992)tCt>tTt		acyl-CoA synthetase long-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						70.0	67.0	68.0					4																	185678385		2203	4300	6503	SO:0001583	missense	2180				digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr4:185678385G>A	BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.1991C>T	4.37:g.185678385G>A	ENSP00000422607:p.Ser664Phe					ACSL1_ENST00000507295.1_Missense_Mutation_p.S630F|ACSL1_ENST00000437665.3_Missense_Mutation_p.S493F|ACSL1_ENST00000513317.1_Missense_Mutation_p.S664F|ACSL1_ENST00000504342.1_Missense_Mutation_p.S664F|ACSL1_ENST00000281455.2_Missense_Mutation_p.S664F|ACSL1_ENST00000454703.2_Missense_Mutation_p.S493F	p.S664F			P33121	ACSL1_HUMAN		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	21	2316	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)	664					B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Missense_Mutation	SNP	ENST00000515030.1	37	c.1991C>T	CCDS3839.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820908	0.71028	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000503407;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317	T;T;T;T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06;2.06;2.06;2.06	5.96	5.07	0.68467	.	0.197020	0.56097	D	0.000030	T	0.63319	0.2501	H	0.98333	4.205	0.80722	D	1	D;D;D;D	0.71674	0.996;0.996;0.996;0.998	P;D;P;D	0.67382	0.841;0.933;0.895;0.951	T	0.78303	-0.2256	10	0.87932	D	0	-23.868	16.6864	0.85309	0.0:0.1293:0.8707:0.0	.	630;664;664;654	E7EPM6;B7Z452;P33121;P33121-2	.;.;ACSL1_HUMAN;.	F	493;664;260;664;630;493;664;664	ENSP00000407165:S493F;ENSP00000422607:S664F;ENSP00000425098:S260F;ENSP00000281455:S664F;ENSP00000426244:S630F;ENSP00000405687:S493F;ENSP00000425006:S664F;ENSP00000426150:S664F	ENSP00000281455:S664F	S	-	2	0	ACSL1	185915379	1.000000	0.71417	0.961000	0.40146	0.985000	0.73830	6.481000	0.73608	2.832000	0.97577	0.655000	0.94253	TCT		0.453	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995		17	23	0	0	0	1	0	17	23				
HECTD4	283450	broad.mit.edu	37	12	112647838	112647838	+	Silent	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr12:112647838G>A	ENST00000430131.2	-	49	7727	c.6582C>T	c.(6580-6582)gcC>gcT	p.A2194A	HECTD4_ENST00000550722.1_Silent_p.A2470A|HECTD4_ENST00000377560.5_Silent_p.A2444A			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2194					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CGGTGGCCACGGCAGCAATCC	0.537																																						ENST00000550722.1																			0											c.(7408-7410)gcC>gcT		HECT domain containing E3 ubiquitin protein ligase 4							39.0	41.0	40.0					12																	112647838		2130	4242	6372	SO:0001819	synonymous_variant	283450							g.chr12:112647838G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.6582C>T	12.37:g.112647838G>A						HECTD4_ENST00000430131.2_Silent_p.A2194A|HECTD4_ENST00000377560.5_Silent_p.A2444A	p.A2470A	NM_001109662.3	NP_001103132.3					50	7805	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.7410C>T		.	.	.	.	.	.	.	.	.	.	G	3.400	-0.122516	0.06795	.	.	ENSG00000173064	ENST00000550968	.	.	.	5.39	-10.8	0.00216	.	.	.	.	.	T	0.46737	0.1408	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60622	-0.7227	4	.	.	.	.	9.7535	0.40490	0.1889:0.074:0.5857:0.1513	.	.	.	.	L	361	.	.	P	-	2	0	C12orf51	111132221	0.000000	0.05858	0.216000	0.23742	0.610000	0.37248	-1.519000	0.02243	-2.771000	0.00365	-1.814000	0.00607	CCG		0.537	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		7	19	0	0	0	1	0	7	19				
ARSG	22901	broad.mit.edu	37	17	66391215	66391215	+	Splice_Site	SNP	G	G	A	rs185381597	byFrequency	TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr17:66391215G>A	ENST00000448504.2	+	10	1889	c.1093G>A	c.(1093-1095)Gtg>Atg	p.V365M	ARSG_ENST00000452479.2_Splice_Site_p.V201M|ARSG_ENST00000582154.1_3'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	365					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTTCCGCAGCGTGCTGGACAT	0.597													G|||	2	0.000399361	0.0	0.0	5008	,	,		19965	0.001		0.0	False		,,,				2504	0.001					ENST00000448504.2																			0				NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26						c.e10-1		arylsulfatase G		G	MET/VAL	0,4406		0,0,2203	153.0	119.0	130.0		1093	0.9	0.5	17		130	1,8599	1.2+/-3.3	0,1,4299	yes	missense-near-splice	ARSG	NM_014960.3	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	365/526	66391215	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	22901				sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding	g.chr17:66391215G>A	AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"""Arylsulfatase family"""	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.1092-1G>A	17.37:g.66391215G>A						ARSG_ENST00000452479.2_Splice_Site_p.V201_splice|ARSG_ENST00000582154.1_3'UTR	p.V365_splice	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)		10	1889	+			365					Q6UXF2|Q9Y2K4	Splice_Site	SNP	ENST00000448504.2	37	c.1091_splice	CCDS11676.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	8.763	0.923964	0.18056	0.0	1.16E-4	ENSG00000141337	ENST00000452479;ENST00000448504	.	.	.	5.25	0.847	0.18961	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.630114	0.16355	N	0.218059	T	0.27063	0.0663	L	0.43152	1.355	0.22866	N	0.99863	B	0.25743	0.133	B	0.24269	0.052	T	0.16129	-1.0413	9	0.33940	T	0.23	.	1.5083	0.02491	0.1865:0.1617:0.4721:0.1797	.	365	Q96EG1	ARSG_HUMAN	M	365;264	.	ENSP00000407193:V264M	V	+	1	0	ARSG	63902810	0.174000	0.23070	0.495000	0.27527	0.109000	0.19521	0.773000	0.26661	0.041000	0.15688	0.555000	0.69702	GTG		0.597	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448369.1	NM_014960	Missense_Mutation	16	26	0	0	0	1	0	16	26				
TBL1Y	90665	broad.mit.edu	37	Y	6911098	6911098	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chrY:6911098C>T	ENST00000383032.1	+	7	783	c.136C>T	c.(136-138)Ccg>Tcg	p.P46S	TBL1Y_ENST00000346432.3_Missense_Mutation_p.P46S|TBL1Y_ENST00000355162.2_Missense_Mutation_p.P46S	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN	transducin (beta)-like 1, Y-linked	46	F-box-like.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						ACTAGTGCCACCGTCTGCCCT	0.532																																						ENST00000383032.1																			0				kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						c.(136-138)Ccg>Tcg		transducin (beta)-like 1, Y-linked							76.0	77.0	77.0					Y																	6911098		623	1980	2603	SO:0001583	missense	90665				transcription, DNA-dependent			g.chrY:6911098C>T	AF332220	CCDS14779.1	Yp11.2	2013-01-10	2009-12-17		ENSG00000092377	ENSG00000092377		"""WD repeat domain containing"""	18502	protein-coding gene	gene with protein product		400033					Standard	NM_033284		Approved	TBL1	uc004frd.3	Q9BQ87	OTTHUMG00000035299	ENST00000383032.1:c.136C>T	Y.37:g.6911098C>T	ENSP00000372499:p.Pro46Ser					TBL1Y_ENST00000346432.3_Missense_Mutation_p.P46S|TBL1Y_ENST00000355162.2_Missense_Mutation_p.P46S	p.P46S	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN			7	783	+			46			F-box-like.		A1L4B3	Missense_Mutation	SNP	ENST00000383032.1	37	c.136C>T	CCDS14779.1																																																																																				0.532	TBL1Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085360.1	NM_033284		14	9	0	0	0	1	0	14	9				
MYO5C	55930	broad.mit.edu	37	15	52534268	52534268	+	Silent	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr15:52534268G>A	ENST00000261839.7	-	20	2694	c.2533C>T	c.(2533-2535)Ctg>Ttg	p.L845L	MYO5C_ENST00000443683.2_Intron	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	845	IQ 4. {ECO:0000255|PROSITE- ProRule:PRU00116}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CTCCTTGCCAGGAATCCTCGG	0.537																																						ENST00000261839.7																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(2533-2535)Ctg>Ttg		myosin VC							197.0	198.0	198.0					15																	52534268		2027	4188	6215	SO:0001819	synonymous_variant	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52534268G>A	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.2533C>T	15.37:g.52534268G>A						MYO5C_ENST00000443683.2_Intron	p.L845L	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	20	2694	-			845			IQ 4.		Q6P1W8	Silent	SNP	ENST00000261839.7	37	c.2533C>T	CCDS42036.1																																																																																				0.537	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		53	44	0	0	0	1	0	53	44				
ZNF540	163255	broad.mit.edu	37	19	38103617	38103617	+	Missense_Mutation	SNP	G	G	A	rs374512088		TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:38103617G>A	ENST00000592533.1	+	5	1768	c.1436G>A	c.(1435-1437)cGt>cAt	p.R479H	ZNF540_ENST00000589117.1_Missense_Mutation_p.R447H|ZNF540_ENST00000343599.5_Missense_Mutation_p.R479H|ZNF540_ENST00000316433.4_Missense_Mutation_p.R479H	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	479					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTCGAGTTCGTTCTCAAATT	0.398																																						ENST00000592533.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28						c.(1435-1437)cGt>cAt		zinc finger protein 540		G	HIS/ARG,HIS/ARG,HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	99.0	95.0	97.0		1436,1340,1436	1.2	0.0	19		97	0,8600		0,0,4300	no	missense,missense,missense	ZNF540	NM_001172225.1,NM_001172226.1,NM_152606.3	29,29,29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign,benign,benign	479/661,447/629,479/661	38103617	3,13003	2203	4300	6503	SO:0001583	missense	163255							g.chr19:38103617G>A	AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.1436G>A	19.37:g.38103617G>A	ENSP00000466274:p.Arg479His					ZNF540_ENST00000343599.5_Missense_Mutation_p.R479H|ZNF540_ENST00000316433.4_Missense_Mutation_p.R479H|ZNF540_ENST00000589117.1_Missense_Mutation_p.R447H	p.R479H	NM_152606.4	NP_689819.1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1768	+								A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Missense_Mutation	SNP	ENST00000592533.1	37	c.1436G>A	CCDS12506.1	.	.	.	.	.	.	.	.	.	.	G	2.060	-0.415537	0.04766	6.81E-4	0.0	ENSG00000171817	ENST00000316433;ENST00000343599	T	0.07800	3.16	2.32	1.22	0.21188	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04770	0.0129	L	0.28115	0.83	0.09310	N	1	B;B	0.22983	0.078;0.047	B;B	0.13407	0.009;0.004	T	0.46359	-0.9197	9	0.12766	T	0.61	.	4.8455	0.13512	0.4495:0.0:0.5505:0.0	.	447;479	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	H	479;447	ENSP00000324598:R479H	ENSP00000324598:R479H	R	+	2	0	ZNF540	42795457	0.000000	0.05858	0.002000	0.10522	0.039000	0.13416	-1.319000	0.02702	0.279000	0.22186	0.305000	0.20034	CGT		0.398	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459481.1	NM_152606		17	44	0	0	0	1	0	17	44				
RBMS3	27303	broad.mit.edu	37	3	29977603	29977603	+	Silent	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr3:29977603C>T	ENST00000383767.2	+	11	1302	c.966C>T	c.(964-966)gaC>gaT	p.D322D	RBMS3_ENST00000396583.3_Silent_p.D335D|RBMS3_ENST00000473799.1_3'UTR|RBMS3_ENST00000452462.1_Silent_p.D322D|RBMS3-AS1_ENST00000414547.1_RNA|RBMS3_ENST00000434693.2_Silent_p.D321D|RBMS3_ENST00000383766.2_Silent_p.D304D|RBMS3_ENST00000456853.1_Silent_p.D335D|RBMS3_ENST00000273139.9_Silent_p.D322D			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	322					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				CAACCATGGACCATCCCATGT	0.438																																						ENST00000434693.2																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11						c.(961-963)gaC>gaT		RNA binding motif, single stranded interacting protein 3							114.0	95.0	101.0					3																	29977603		2203	4300	6503	SO:0001819	synonymous_variant	27303					cytoplasm	nucleotide binding|RNA binding	g.chr3:29977603C>T	AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"""RNA binding motif (RRM) containing"""	13427	protein-coding gene	gene with protein product	"""RNA-binding protein"""	605786	"""RNA binding motif, single stranded interacting protein"""			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.966C>T	3.37:g.29977603C>T						RBMS3_ENST00000383767.2_Silent_p.D322D|RBMS3_ENST00000456853.1_Silent_p.D335D|RBMS3_ENST00000452462.1_Silent_p.D322D|RBMS3_ENST00000273139.9_Silent_p.D322D|RBMS3_ENST00000396583.3_Silent_p.D335D|RBMS3_ENST00000473799.1_3'UTR|RBMS3_ENST00000383766.2_Silent_p.D304D	p.D321D	NM_001003793.2	NP_001003793.1	Q6XE24	RBMS3_HUMAN			11	1663	+		Ovarian(412;0.0956)	322					A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Silent	SNP	ENST00000383767.2	37	c.963C>T	CCDS33724.1																																																																																				0.438	RBMS3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341306.1	NM_001003792		5	16	0	0	0	1	0	5	16				
OPN4	94233	broad.mit.edu	37	10	88418318	88418318	+	Missense_Mutation	SNP	C	C	T	rs143641898	byFrequency	TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr10:88418318C>T	ENST00000241891.5	+	4	669	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C	OPN4_ENST00000372071.2_Missense_Mutation_p.R179C	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	168					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CGCCCTGGACCGCTACCTGGT	0.617																																						ENST00000372071.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						c.(535-537)Cgc>Tgc		opsin 4		C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	94.0	82.0	86.0		535,502	4.2	1.0	10	dbSNP_134	86	6,8594	5.0+/-18.6	0,6,4294	yes	missense,missense	OPN4	NM_001030015.2,NM_033282.3	180,180	0,7,6496	TT,TC,CC		0.0698,0.0227,0.0538	probably-damaging,probably-damaging	179/490,168/479	88418318	7,12999	2203	4300	6503	SO:0001583	missense	94233				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity	g.chr10:88418318C>T	AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"""GPCR / Class A : Opsin receptors"""	14449	protein-coding gene	gene with protein product	"""melanopsin"""	606665	"""opsin 4 (melanopsin)"""			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.502C>T	10.37:g.88418318C>T	ENSP00000241891:p.Arg168Cys					OPN4_ENST00000241891.5_Missense_Mutation_p.R168C	p.R179C	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN			5	762	+			168					B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Missense_Mutation	SNP	ENST00000241891.5	37	c.535C>T	CCDS7376.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284426	0.80803	2.27E-4	6.98E-4	ENSG00000122375	ENST00000372071;ENST00000241891;ENST00000443292	D;D;D	0.97186	-4.28;-4.28;-4.28	5.22	4.25	0.50352	GPCR, rhodopsin-like superfamily (1);	0.132116	0.49916	D	0.000140	D	0.98485	0.9495	M	0.94101	3.495	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.961	D;D;P	0.64776	0.929;0.929;0.705	D	0.98720	1.0708	10	0.87932	D	0	.	11.2301	0.48907	0.3689:0.6311:0.0:0.0	.	179;168;179	C9JWU6;Q9UHM6;Q9UHM6-2	.;OPN4_HUMAN;.	C	179;168;179	ENSP00000361141:R179C;ENSP00000241891:R168C;ENSP00000393132:R179C	ENSP00000241891:R168C	R	+	1	0	OPN4	88408298	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.928000	0.63447	2.434000	0.82447	0.561000	0.74099	CGC		0.617	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049158.2	NM_033282		20	19	0	0	0	1	0	20	19				
PEAR1	375033	broad.mit.edu	37	1	156884576	156884576	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr1:156884576C>T	ENST00000338302.3	+	24	3325	c.3100C>T	c.(3100-3102)Cgc>Tgc	p.R1034C	PEAR1_ENST00000292357.7_Missense_Mutation_p.R1034C			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	1034					recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCCACTTCGACGCCAGGACCG	0.612																																						ENST00000338302.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43						c.(3100-3102)Cgc>Tgc		platelet endothelial aggregation receptor 1							142.0	97.0	113.0					1																	156884576		2203	4300	6503	SO:0001583	missense	375033					integral to membrane		g.chr1:156884576C>T	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"""multiple EGF-like-domains 12"""	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.3100C>T	1.37:g.156884576C>T	ENSP00000344465:p.Arg1034Cys					PEAR1_ENST00000292357.7_Missense_Mutation_p.R1034C	p.R1034C			Q5VY43	PEAR1_HUMAN			24	3325	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		1034					Q8TEK2	Missense_Mutation	SNP	ENST00000338302.3	37	c.3100C>T	CCDS30892.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.058398	0.76074	.	.	ENSG00000187800	ENST00000338302;ENST00000292357	D;D	0.90197	-2.63;-2.63	4.95	4.03	0.46877	.	0.197830	0.25363	N	0.031205	T	0.79890	0.4524	L	0.51422	1.61	0.27495	N	0.952157	B	0.11235	0.004	B	0.04013	0.001	T	0.75850	-0.3172	10	0.87932	D	0	.	10.7397	0.46145	0.0:0.908:0.0:0.092	.	1034	Q5VY43	PEAR1_HUMAN	C	1034	ENSP00000344465:R1034C;ENSP00000292357:R1034C	ENSP00000292357:R1034C	R	+	1	0	PEAR1	155151200	0.935000	0.31712	0.914000	0.36105	0.978000	0.69477	1.884000	0.39668	1.299000	0.44798	0.591000	0.81541	CGC		0.612	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		12	27	0	0	0	1	0	12	27				
CTIF	9811	broad.mit.edu	37	18	46284511	46284511	+	Missense_Mutation	SNP	G	G	A	rs373686942		TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr18:46284511G>A	ENST00000256413.3	+	8	1101	c.806G>A	c.(805-807)cGc>cAc	p.R269H	CTIF_ENST00000382998.4_Missense_Mutation_p.R269H	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	269	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						GGCGCACACCGCAATGCCAAA	0.642																																						ENST00000256413.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(805-807)cGc>cAc		CBP80/20-dependent translation initiation factor		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	92.0	86.0	88.0		806,806	5.2	1.0	18		88	0,8600		0,0,4300	no	missense,missense	CTIF	NM_001142397.1,NM_014772.2	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	269/601,269/599	46284511	1,13005	2203	4300	6503	SO:0001583	missense	9811				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	g.chr18:46284511G>A	AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"""KIAA0427"""	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.806G>A	18.37:g.46284511G>A	ENSP00000256413:p.Arg269His					CTIF_ENST00000382998.4_Missense_Mutation_p.R269H	p.R269H	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN			8	1101	+			269			Interaction with NCBP1/CBP80.		B3KTR8|Q8IVD5	Missense_Mutation	SNP	ENST00000256413.3	37	c.806G>A	CCDS11935.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315040	0.81358	2.27E-4	0.0	ENSG00000134030	ENST00000256413;ENST00000382998;ENST00000420275	T;T	0.53423	0.62;0.62	5.19	5.19	0.71726	.	0.526840	0.20022	N	0.100884	T	0.47581	0.1453	L	0.40543	1.245	0.41689	D	0.989338	P;P	0.52170	0.951;0.832	P;B	0.46076	0.503;0.306	T	0.53892	-0.8374	10	0.87932	D	0	-14.0903	16.9045	0.86123	0.0:0.0:1.0:0.0	.	269;269	O43310-2;O43310	.;CTIF_HUMAN	H	269;269;221	ENSP00000256413:R269H;ENSP00000372459:R269H	ENSP00000256413:R269H	R	+	2	0	CTIF	44538509	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.058000	0.64300	2.416000	0.81992	0.561000	0.74099	CGC		0.642	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255907.1	NM_014772		23	24	0	0	0	1	0	23	24				
ISM1	140862	broad.mit.edu	37	20	13280078	13280078	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr20:13280078A>G	ENST00000262487.4	+	6	1373	c.1367A>G	c.(1366-1368)aAg>aGg	p.K456R	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	456						extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						GACTACATCAAGCAGTTCCAA	0.567																																						ENST00000262487.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						c.(1366-1368)aAg>aGg		isthmin 1, angiogenesis inhibitor							70.0	79.0	76.0					20																	13280078		2144	4239	6383	SO:0001583	missense	140862					extracellular region		g.chr20:13280078A>G	AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"""chromosome 20 open reading frame 82"", ""isthmin 1 homolog (zebrafish)"""	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.1367A>G	20.37:g.13280078A>G	ENSP00000262487:p.Lys456Arg					TASP1_ENST00000539805.1_Intron	p.K456R	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN			6	1373	+			456					Q8WVH9	Missense_Mutation	SNP	ENST00000262487.4	37	c.1367A>G	CCDS46579.1	.	.	.	.	.	.	.	.	.	.	A	9.279	1.047547	0.19827	.	.	ENSG00000101230	ENST00000262487;ENST00000447521	T;T	0.45668	0.89;0.9	5.98	3.68	0.42216	.	0.000000	0.85682	D	0.000000	T	0.24699	0.0599	N	0.19112	0.55	0.80722	D	1	B	0.11235	0.004	B	0.09377	0.004	T	0.05084	-1.0907	10	0.18710	T	0.47	-15.5165	8.8963	0.35467	0.8073:0.1271:0.0656:0.0	.	456	B1AKI9	ISM1_HUMAN	R	456;410	ENSP00000262487:K456R;ENSP00000409938:K410R	ENSP00000262487:K456R	K	+	2	0	ISM1	13228078	1.000000	0.71417	0.975000	0.42487	0.996000	0.88848	4.319000	0.59197	0.467000	0.27218	-0.274000	0.10170	AAG		0.567	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2			30	52	0	0	0	1	0	30	52				
ATF7IP2	80063	broad.mit.edu	37	16	10574741	10574741	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr16:10574741C>T	ENST00000396560.2	+	11	1782	c.1555C>T	c.(1555-1557)Cca>Tca	p.P519S	ATF7IP2_ENST00000543967.1_Missense_Mutation_p.P63S|ATF7IP2_ENST00000324570.5_Silent_p.V496V|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.P519S|ATF7IP2_ENST00000396559.1_Silent_p.V496V	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	519					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						CACAGAAAGTCCAGTATCCCC	0.388																																						ENST00000396560.2																			0				large_intestine(3)	3						c.(1555-1557)Cca>Tca		activating transcription factor 7 interacting protein 2							109.0	107.0	108.0					16																	10574741		2197	4300	6497	SO:0001583	missense	80063				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr16:10574741C>T	AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.1555C>T	16.37:g.10574741C>T	ENSP00000379808:p.Pro519Ser					ATF7IP2_ENST00000324570.5_Silent_p.V496V|ATF7IP2_ENST00000543967.1_Missense_Mutation_p.P63S|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.P519S|ATF7IP2_ENST00000396559.1_Silent_p.V496V	p.P519S	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN			11	1782	+			519					B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	ENST00000396560.2	37	c.1555C>T	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	C	0.025	-1.379622	0.01204	.	.	ENSG00000166669	ENST00000543967;ENST00000396560;ENST00000356427	T;T;T	0.22539	2.02;1.95;1.95	4.56	0.0731	0.14389	.	0.482694	0.17521	N	0.171248	T	0.09818	0.0241	N	0.24115	0.695	0.80722	D	1	B	0.19583	0.037	B	0.18561	0.022	T	0.19976	-1.0289	10	0.19590	T	0.45	-6.2616	2.8135	0.05448	0.2031:0.4624:0.0:0.3345	.	519	Q5U623	MCAF2_HUMAN	S	63;519;519	ENSP00000446119:P63S;ENSP00000379808:P519S;ENSP00000348799:P519S	ENSP00000348799:P519S	P	+	1	0	ATF7IP2	10482242	0.001000	0.12720	0.007000	0.13788	0.152000	0.21847	-0.071000	0.11505	0.462000	0.27095	0.563000	0.77884	CCA		0.388	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997		19	48	0	0	0	1	0	19	48				
SLC8A3	6547	broad.mit.edu	37	14	70515655	70515655	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr14:70515655C>T	ENST00000381269.2	-	7	2989	c.2236G>A	c.(2236-2238)Gtg>Atg	p.V746M	SLC8A3_ENST00000356921.2_Missense_Mutation_p.V740M|SLC8A3_ENST00000534137.1_Missense_Mutation_p.V743M|SLC8A3_ENST00000394330.2_Missense_Mutation_p.V103M|SLC8A3_ENST00000357887.3_Missense_Mutation_p.V744M|SLC8A3_ENST00000533541.1_Missense_Mutation_p.V103M|SLC8A3_ENST00000528359.1_Missense_Mutation_p.V744M|SLC8A3_ENST00000216568.7_Missense_Mutation_p.V117M	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	746					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GTGGGGGGCACACAGGCAAAC	0.592																																						ENST00000381269.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54						c.(2236-2238)Gtg>Atg		solute carrier family 8 (sodium/calcium exchanger), member 3							82.0	69.0	73.0					14																	70515655		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70515655C>T	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.2236G>A	14.37:g.70515655C>T	ENSP00000370669:p.Val746Met					SLC8A3_ENST00000216568.7_Missense_Mutation_p.V117M|SLC8A3_ENST00000528359.1_Missense_Mutation_p.V744M|SLC8A3_ENST00000356921.2_Missense_Mutation_p.V740M|SLC8A3_ENST00000533541.1_Missense_Mutation_p.V103M|SLC8A3_ENST00000534137.1_Missense_Mutation_p.V743M|SLC8A3_ENST00000357887.3_Missense_Mutation_p.V744M|SLC8A3_ENST00000394330.2_Missense_Mutation_p.V103M	p.V746M	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	7	2989	-			746					Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.2236G>A	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677751	0.88445	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000216568;ENST00000394330;ENST00000534137;ENST00000528359;ENST00000533541	T;T;T;T;T;T;T;T	0.73152	1.11;1.04;1.18;-0.72;-0.7;1.12;1.18;0.41	5.24	5.24	0.73138	.	0.200468	0.42682	D	0.000673	D	0.87529	0.6200	M	0.89715	3.055	0.80722	D	1	P;D;D;D;D;P	0.76494	0.565;0.998;0.999;0.99;0.996;0.627	P;D;D;D;D;B	0.83275	0.591;0.996;0.993;0.979;0.986;0.317	D	0.89798	0.3973	10	0.66056	D	0.02	.	18.8467	0.92210	0.0:1.0:0.0:0.0	.	103;740;746;744;743;117	F2Z391;P57103-2;P57103;Q96QG2;Q96QG1;Q5K3P6	.;.;NAC3_HUMAN;.;.;.	M	740;746;744;117;103;743;744;103	ENSP00000349392:V740M;ENSP00000370669:V746M;ENSP00000350560:V744M;ENSP00000216568:V117M;ENSP00000377863:V103M;ENSP00000436688:V743M;ENSP00000433531:V744M;ENSP00000437103:V103M	ENSP00000216568:V117M	V	-	1	0	SLC8A3	69585408	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.757000	0.85209	2.450000	0.82876	0.455000	0.32223	GTG		0.592	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			8	26	0	0	0	1	0	8	26				
ZNF226	7769	broad.mit.edu	37	19	44681060	44681060	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:44681060C>T	ENST00000590089.1	+	7	2012	c.1645C>T	c.(1645-1647)Cat>Tat	p.H549Y	ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Missense_Mutation_p.H549Y|ZNF226_ENST00000454662.2_Missense_Mutation_p.H549Y			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	549					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)						Prostate(69;0.0352)|all_neural(266;0.202)				TCTTCAAATCCATCAGAAGGC	0.443																																					Pancreas(115;581 1665 13228 19278 50070)	ENST00000590089.1																			0											c.(1645-1647)Cat>Tat		zinc finger protein 226							115.0	120.0	118.0					19																	44681060		2143	4286	6429	SO:0001583	missense	7769				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44681060C>T	AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"""Zinc fingers, C2H2-type"", ""-"""	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.1645C>T	19.37:g.44681060C>T	ENSP00000465121:p.His549Tyr					ZNF226_ENST00000337433.5_Missense_Mutation_p.H549Y|ZNF226_ENST00000454662.2_Missense_Mutation_p.H549Y|ZNF226_ENST00000588883.1_3'UTR	p.H549Y			Q9NYT6	ZN226_HUMAN			7	2012	+		Prostate(69;0.0352)|all_neural(266;0.202)	549					Q8WWE6|Q96TE6|Q9NS44	Missense_Mutation	SNP	ENST00000590089.1	37	c.1645C>T	CCDS46102.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528553	0.64860	.	.	ENSG00000167380	ENST00000337433;ENST00000454662	D;D	0.86769	-2.17;-2.17	4.06	3.0	0.34707	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33419	N	0.004940	D	0.94974	0.8374	H	0.96301	3.8	0.32361	N	0.557196	D	0.71674	0.998	D	0.76575	0.988	D	0.95549	0.8619	10	0.87932	D	0	.	12.2615	0.54652	0.1718:0.8282:0.0:0.0	.	549	Q9NYT6	ZN226_HUMAN	Y	549	ENSP00000336719:H549Y;ENSP00000393265:H549Y	ENSP00000336719:H549Y	H	+	1	0	ZNF226	49372900	1.000000	0.71417	0.785000	0.31869	0.998000	0.95712	5.328000	0.65887	1.053000	0.40415	0.650000	0.86243	CAT		0.443	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1			30	99	0	0	0	1	0	30	99				
FHOD3	80206	broad.mit.edu	37	18	34156464	34156464	+	Missense_Mutation	SNP	C	C	T	rs143579901	byFrequency	TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr18:34156464C>T	ENST00000359247.4	+	6	562	c.562C>T	c.(562-564)Cgc>Tgc	p.R188C	FHOD3_ENST00000591635.1_5'UTR|FHOD3_ENST00000590592.1_Missense_Mutation_p.R188C|FHOD3_ENST00000257209.4_Missense_Mutation_p.R188C|FHOD3_ENST00000445677.1_Missense_Mutation_p.R188C	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	188	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AGTAATAAACCGCAATGAAAC	0.373													C|||	2	0.000399361	0.0	0.0	5008	,	,		17584	0.002		0.0	False		,,,				2504	0.0					ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(562-564)Cgc>Tgc		formin homology 2 domain containing 3		C	CYS/ARG	0,4406		0,0,2203	149.0	131.0	137.0		562	5.7	1.0	18	dbSNP_134	137	2,8598	2.2+/-6.3	0,2,4298	yes	missense	FHOD3	NM_025135.2	180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	188/1440	34156464	2,13004	2203	4300	6503	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34156464C>T	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.562C>T	18.37:g.34156464C>T	ENSP00000352186:p.Arg188Cys					FHOD3_ENST00000591635.1_5'UTR|FHOD3_ENST00000359247.4_Missense_Mutation_p.R188C|FHOD3_ENST00000590592.1_Missense_Mutation_p.R188C|FHOD3_ENST00000445677.1_Missense_Mutation_p.R188C	p.R188C	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			6	684	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	188			GBD/FH3.		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.562C>T		.	.	.	.	.	.	.	.	.	.	C	16.28	3.079880	0.55753	0.0	2.33E-4	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.19250	2.16;2.16;2.16	5.73	5.73	0.89815	GTPase-binding/formin homology 3 (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.100549	0.64402	D	0.000002	T	0.16685	0.0401	N	0.08118	0	0.27841	N	0.941109	B;B;D	0.56968	0.377;0.309;0.978	B;B;P	0.49361	0.015;0.014;0.608	T	0.07271	-1.0781	10	0.87932	D	0	.	12.345	0.55116	0.1686:0.8314:0.0:0.0	.	188;188;188	Q2V2M9;Q2V2M9-3;E5F5Q0	FHOD3_HUMAN;.;.	C	188	ENSP00000257209:R188C;ENSP00000352186:R188C;ENSP00000411430:R188C	ENSP00000257209:R188C	R	+	1	0	FHOD3	32410462	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.458000	0.60095	2.694000	0.91930	0.655000	0.94253	CGC		0.373	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		17	23	0	0	0	1	0	17	23				
ENG	2022	broad.mit.edu	37	9	130587089	130587089	+	Silent	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr9:130587089G>A	ENST00000373203.4	-	7	1381	c.981C>T	c.(979-981)gcC>gcT	p.A327A	ENG_ENST00000344849.3_Silent_p.A327A|RP11-228B15.4_ENST00000439298.1_RNA|ENG_ENST00000480266.1_5'UTR	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	327	Required for interaction with EGL.				artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						CGCAGCTGGAGGCATGAAGTG	0.617									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia																													ENST00000344849.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						c.(979-981)gcC>gcT		endoglin							58.0	54.0	55.0					9																	130587089		2203	4300	6503	SO:0001819	synonymous_variant	2022	Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding	g.chr9:130587089G>A	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"""CD molecules"""	3349	protein-coding gene	gene with protein product		131195	"""Osler-Rendu-Weber syndrome 1"""	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.981C>T	9.37:g.130587089G>A						ENG_ENST00000373203.4_Silent_p.A327A|ENG_ENST00000480266.1_5'UTR	p.A327A			P17813	EGLN_HUMAN			7	1261	-			327					Q14248|Q14926|Q5T9C0	Silent	SNP	ENST00000373203.4	37	c.981C>T	CCDS48029.1																																																																																				0.617	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054313.1			9	8	0	0	0	1	0	9	8				
ZNF236	7776	broad.mit.edu	37	18	74667996	74667996	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr18:74667996G>A	ENST00000253159.8	+	28	5162	c.4964G>A	c.(4963-4965)cGg>cAg	p.R1655Q	ZNF236_ENST00000320610.9_Missense_Mutation_p.R1657Q	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1655					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AAGGAGGGCCGGGCGCACCAG	0.637																																						ENST00000253159.8																			0				NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94						c.(4963-4965)cGg>cAg		zinc finger protein 236							15.0	18.0	17.0					18																	74667996		1966	4125	6091	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74667996G>A	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.4964G>A	18.37:g.74667996G>A	ENSP00000253159:p.Arg1655Gln					ZNF236_ENST00000320610.9_Missense_Mutation_p.R1657Q	p.R1655Q	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	28	5162	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	1655					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.4964G>A	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	G	9.628	1.135633	0.21123	.	.	ENSG00000130856	ENST00000253159	T	0.33438	1.41	5.47	3.65	0.41850	.	0.153988	0.42821	D	0.000648	T	0.20129	0.0484	N	0.20986	0.625	0.09310	N	0.999999	B	0.17268	0.021	B	0.11329	0.006	T	0.15549	-1.0433	10	0.41790	T	0.15	.	10.1345	0.42697	0.0:0.3616:0.5063:0.1321	.	1655	Q9UL36	ZN236_HUMAN	Q	1655	ENSP00000253159:R1655Q	ENSP00000253159:R1655Q	R	+	2	0	ZNF236	72796984	0.340000	0.24792	0.088000	0.20740	0.301000	0.27625	1.343000	0.33930	0.635000	0.30488	0.655000	0.94253	CGG		0.637	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			6	10	0	0	0	1	0	6	10				
SLC22A25	387601	broad.mit.edu	37	11	62997040	62997040	+	Missense_Mutation	SNP	C	C	T	rs370074611		TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr11:62997040C>T	ENST00000306494.6	-	1	84	c.85G>A	c.(85-87)Gtc>Atc	p.V29I	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron|SLC22A25_ENST00000403374.2_5'Flank	NM_199352.3	NP_955384.3			solute carrier family 22, member 25											NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						TATACTATGACGTTGAACATT	0.458													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20319	0.0		0.0	False		,,,				2504	0.0					ENST00000306494.6																			0				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						c.(85-87)Gtc>Atc		solute carrier family 22, member 25		C	ILE/VAL	0,4402		0,0,2201	114.0	111.0	112.0		85	-7.9	0.0	11		112	1,8595	1.2+/-3.3	0,1,4297	no	missense	SLC22A25	NM_199352.3	29	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	benign	29/548	62997040	1,12997	2201	4298	6499	SO:0001583	missense	387601				transmembrane transport	integral to membrane		g.chr11:62997040C>T	AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"""Solute carriers"""	32935	protein-coding gene	gene with protein product		610792	"""MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"""			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.85G>A	11.37:g.62997040C>T	ENSP00000307443:p.Val29Ile					SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	p.V29I	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN			1	84	-			29						Missense_Mutation	SNP	ENST00000306494.6	37	c.85G>A	CCDS31592.1	.	.	.	.	.	.	.	.	.	.	C	0.037	-1.302734	0.01353	0.0	1.16E-4	ENSG00000196600	ENST00000306494;ENST00000451441	T	0.35973	1.28	3.98	-7.95	0.01148	.	1.304430	0.05172	N	0.499657	T	0.11239	0.0274	N	0.04705	-0.18	0.09310	N	1	B;B	0.21309	0.054;0.04	B;B	0.13407	0.007;0.009	T	0.11446	-1.0587	10	0.02654	T	1	.	2.7504	0.05279	0.2534:0.3949:0.2536:0.0981	.	27;29	A4IF29;Q6T423	.;S22AP_HUMAN	I	29	ENSP00000307443:V29I	ENSP00000307443:V29I	V	-	1	0	SLC22A25	62753616	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.585000	0.02112	-3.937000	0.00089	-1.559000	0.00887	GTC		0.458	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383519.3	NM_199352		13	30	0	0	0	1	0	13	30				
SNRPA	6626	broad.mit.edu	37	19	41268829	41268829	+	Silent	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:41268829G>A	ENST00000243563.3	+	4	1000	c.450G>A	c.(448-450)gcG>gcA	p.A150A		NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	150	Pro-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snRNA binding (GO:0017069)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TGACTCAGGCGCCCCGCATTA	0.657																																						ENST00000243563.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10						c.(448-450)gcG>gcA		small nuclear ribonucleoprotein polypeptide A							28.0	25.0	26.0					19																	41268829		2203	4300	6503	SO:0001819	synonymous_variant	6626					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr19:41268829G>A	X06347	CCDS12565.1	19q13.1	2013-02-12				ENSG00000077312		"""RNA binding motif (RRM) containing"""	11151	protein-coding gene	gene with protein product		182285				1701111	Standard	NM_004596		Approved	U1A, U1-A, Mud1	uc002ooz.3	P09012		ENST00000243563.3:c.450G>A	19.37:g.41268829G>A							p.A150A	NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		4	1000	+			150			Pro-rich.			Silent	SNP	ENST00000243563.3	37	c.450G>A	CCDS12565.1																																																																																				0.657	SNRPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463118.2	NM_004596		11	24	0	0	0	1	0	11	24				
MYH2	4620	broad.mit.edu	37	17	10430103	10430103	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr17:10430103C>T	ENST00000245503.5	-	30	4384	c.4000G>A	c.(4000-4002)Gcc>Acc	p.A1334T	RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.A1334T|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1334					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGCGCCAGGGCGTTCTTGGCC	0.493																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(4000-4002)Gcc>Acc		myosin, heavy chain 2, skeletal muscle, adult							83.0	80.0	81.0					17																	10430103		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10430103C>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4000G>A	17.37:g.10430103C>T	ENSP00000245503:p.Ala1334Thr					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.A1334T	p.A1334T	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			30	4384	-			1334					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.4000G>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217471	0.79352	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.83591	-1.74;-1.74	5.17	5.17	0.71159	Myosin tail (1);	0.000000	0.37906	U	0.001889	D	0.83686	0.5308	M	0.71871	2.18	0.80722	D	1	B	0.25850	0.136	B	0.30251	0.113	T	0.80271	-0.1452	10	0.33141	T	0.24	.	18.8518	0.92235	0.0:1.0:0.0:0.0	.	1334	Q9UKX2	MYH2_HUMAN	T	1334	ENSP00000245503:A1334T;ENSP00000380367:A1334T	ENSP00000245503:A1334T	A	-	1	0	MYH2	10370828	1.000000	0.71417	0.987000	0.45799	0.757000	0.42996	7.642000	0.83385	2.678000	0.91216	0.655000	0.94253	GCC		0.493	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		25	42	0	0	0	1	0	25	42				
SLITRK3	22865	broad.mit.edu	37	3	164907844	164907844	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr3:164907844T>C	ENST00000475390.1	-	2	1218	c.775A>G	c.(775-777)Att>Gtt	p.I259V	SLITRK3_ENST00000241274.3_Missense_Mutation_p.I259V			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	259	LRRCT 1.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TCACAGGTAATGTCTCCCACC	0.488										HNSCC(40;0.11)																												ENST00000475390.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(775-777)Att>Gtt		SLIT and NTRK-like family, member 3							130.0	133.0	132.0					3																	164907844		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164907844T>C	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.775A>G	3.37:g.164907844T>C	ENSP00000420091:p.Ile259Val	HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Missense_Mutation_p.I259V	p.I259V			O94933	SLIK3_HUMAN			2	1218	-			259			LRRCT 1.		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.775A>G	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	T	0.808	-0.753183	0.03041	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.37235	1.21;1.21	5.85	5.85	0.93711	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.38381	N	0.001716	T	0.21921	0.0528	N	0.13272	0.32	0.48087	D	0.999582	B	0.20780	0.048	B	0.23716	0.048	T	0.08027	-1.0742	10	0.02654	T	1	-18.359	16.2252	0.82286	0.0:0.0:0.0:1.0	.	259	O94933	SLIK3_HUMAN	V	259	ENSP00000420091:I259V;ENSP00000241274:I259V	ENSP00000241274:I259V	I	-	1	0	SLITRK3	166390538	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.113000	0.64640	2.233000	0.73108	0.533000	0.62120	ATT		0.488	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		5	86	0	0	0	1	0	5	86				
VLDLR	7436	broad.mit.edu	37	9	2648302	2648302	+	Silent	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr9:2648302G>A	ENST00000382100.3	+	13	2273	c.1917G>A	c.(1915-1917)aaG>aaA	p.K639K	VLDLR_ENST00000382099.2_Silent_p.K639K	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	639					cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TAGTACTAAAGTCTCTGGAGT	0.408																																						ENST00000382100.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1915-1917)aaG>aaA		very low density lipoprotein receptor							147.0	138.0	141.0					9																	2648302		2203	4300	6503	SO:0001819	synonymous_variant	7436				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity	g.chr9:2648302G>A		CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"""Low density lipoprotein receptors"""	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.1917G>A	9.37:g.2648302G>A						VLDLR_ENST00000382099.2_Silent_p.K639K	p.K639K	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN		GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)	13	2273	+			639					B2RMZ7|D3DRH6|Q5VVF6	Silent	SNP	ENST00000382100.3	37	c.1917G>A	CCDS6446.1																																																																																				0.408	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	NM_003383		3	30	0	0	0	1	0	3	30				
HAPLN1	1404	broad.mit.edu	37	5	82937339	82937339	+	Silent	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr5:82937339G>A	ENST00000274341.4	-	5	1891	c.1041C>T	c.(1039-1041)gtC>gtT	p.V347V		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	347	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	TGAAGCAGTAGACACCATACA	0.453																																						ENST00000274341.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34						c.(1039-1041)gtC>gtT		hyaluronan and proteoglycan link protein 1							152.0	162.0	159.0					5																	82937339		2203	4300	6503	SO:0001819	synonymous_variant	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82937339G>A		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.1041C>T	5.37:g.82937339G>A							p.V347V	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	5	1891	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	347			Link 2.		B2R9A9	Silent	SNP	ENST00000274341.4	37	c.1041C>T	CCDS4061.1																																																																																				0.453	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		13	97	0	0	0	1	0	13	97				
KIAA1210	57481	broad.mit.edu	37	X	118284501	118284501	+	Silent	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chrX:118284501G>A	ENST00000402510.2	-	1	41	c.42C>T	c.(40-42)caC>caT	p.H14H		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	14										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GGAGAGAAGCGTGAAAGGCAG	0.642																																						ENST00000402510.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						c.(40-42)caC>caT		KIAA1210							54.0	62.0	59.0					X																	118284501		1994	4141	6135	SO:0001819	synonymous_variant	57481							g.chrX:118284501G>A	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.42C>T	X.37:g.118284501G>A							p.H14H	NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN			1	41	-			14					B7ZCI8|Q5JPN4	Silent	SNP	ENST00000402510.2	37	c.42C>T	CCDS48156.1																																																																																				0.642	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		47	17	0	0	0	1	0	47	17				
FSIP2	401024	broad.mit.edu	37	2	186670853	186670853	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr2:186670853G>A	ENST00000424728.1	+	17	16820	c.16820G>A	c.(16819-16821)gGc>gAc	p.G5607D	FSIP2_ENST00000343098.5_Missense_Mutation_p.G5696D			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5607										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TCTGAAATAGGCTATAAAAAG	0.328																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(17086-17088)gGc>gAc		fibrous sheath interacting protein 2							62.0	64.0	63.0					2																	186670853		1823	4064	5887	SO:0001583	missense	401024							g.chr2:186670853G>A	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.16820G>A	2.37:g.186670853G>A	ENSP00000401306:p.Gly5607Asp					FSIP2_ENST00000424728.1_Missense_Mutation_p.G5607D	p.G5696D	NM_173651.2	NP_775922.2					17	17087	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37	c.17087G>A		.	.	.	.	.	.	.	.	.	.	G	0.138	-1.105031	0.01828	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.37411	1.2;1.2	4.46	-0.937	0.10415	.	.	.	.	.	T	0.12475	0.0303	N	0.04880	-0.145	0.09310	N	1	.	.	.	.	.	.	T	0.29058	-1.0024	7	0.11794	T	0.64	.	3.9256	0.09262	0.4671:0.1944:0.3385:0.0	.	.	.	.	D	5696;5607	ENSP00000344403:G5696D;ENSP00000401306:G5607D	ENSP00000344403:G5696D	G	+	2	0	FSIP2	186379098	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.075000	0.11431	0.045000	0.15804	-0.469000	0.05056	GGC		0.328	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		10	27	0	0	0	1	0	10	27				
RIN2	54453	broad.mit.edu	37	20	19945627	19945627	+	Silent	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr20:19945627C>T	ENST00000255006.6	+	6	791	c.642C>T	c.(640-642)ttC>ttT	p.F214F	RIN2_ENST00000440354.2_Intron|RIN2_ENST00000484638.1_Intron	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	165					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						GAATCAGTTTCGCAGATTTAT	0.478																																						ENST00000255006.6																			0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						c.(640-642)ttC>ttT		Ras and Rab interactor 2							169.0	156.0	160.0					20																	19945627		1864	4112	5976	SO:0001819	synonymous_variant	54453				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr20:19945627C>T	AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.642C>T	20.37:g.19945627C>T						RIN2_ENST00000484638.1_Intron|RIN2_ENST00000440354.2_Intron	p.F214F	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN			6	791	+			165					Q00425|Q5TFT8|Q9BQL3|Q9H071	Silent	SNP	ENST00000255006.6	37	c.642C>T	CCDS56182.1																																																																																				0.478	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1			23	59	0	0	0	1	0	23	59				
PTCD1	26024	broad.mit.edu	37	7	99027240	99027240	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr7:99027240C>T	ENST00000292478.4	-	4	1034	c.784G>A	c.(784-786)Gac>Aac	p.D262N	ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.D311N|PTCD1_ENST00000555673.1_Missense_Mutation_p.D311N|PTCD1_ENST00000485746.1_5'UTR	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	262					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			ATCCTAAGGTCTGCGCACTTG	0.607																																						ENST00000292478.4																			0				endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27						c.(784-786)Gac>Aac		pentatricopeptide repeat domain 1							137.0	119.0	125.0					7																	99027240		2203	4300	6503	SO:0001583	missense	26024							g.chr7:99027240C>T	AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.784G>A	7.37:g.99027240C>T	ENSP00000292478:p.Asp262Asn					PTCD1_ENST00000485746.1_5'UTR|PTCD1_ENST00000555673.1_Missense_Mutation_p.D311N|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.D311N	p.D262N	NM_015545.3	NP_056360.2			STAD - Stomach adenocarcinoma(171;0.215)		4	1034	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)							Q3ZB78|Q66K60|Q9UDV2	Missense_Mutation	SNP	ENST00000292478.4	37	c.784G>A	CCDS34691.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497396	0.85069	.	.	ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000248919	ENST00000292478;ENST00000438524;ENST00000555673;ENST00000413834	T;T;T	0.66815	-0.23;-0.21;-0.21	5.34	4.45	0.53987	.	0.049221	0.85682	D	0.000000	T	0.79358	0.4432	M	0.70275	2.135	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.83275	0.974;0.996	T	0.77918	-0.2408	10	0.35671	T	0.21	-33.7843	14.3828	0.66923	0.0:0.9272:0.0:0.0728	.	311;262	G3V325;O75127	.;PTCD1_HUMAN	N	262;44;311;311	ENSP00000292478:D262N;ENSP00000450995:D311N;ENSP00000400168:D311N	ENSP00000400168:D311N	D	-	1	0	ATP5J2-PTCD1;PTCD1	98865176	0.998000	0.40836	0.967000	0.41034	0.814000	0.46013	3.714000	0.54889	2.513000	0.84729	0.655000	0.94253	GAC		0.607	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545		18	56	0	0	0	1	0	18	56				
NTN3	4917	broad.mit.edu	37	16	2522817	2522817	+	Silent	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr16:2522817C>T	ENST00000293973.1	+	2	1247	c.1044C>T	c.(1042-1044)cgC>cgT	p.R348R	TBC1D24_ENST00000293970.5_5'Flank|TBC1D24_ENST00000567020.1_5'Flank	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	348	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						CCGCCGGCCGCCACTGCCACT	0.701																																						ENST00000293973.1																			0				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						c.(1042-1044)cgC>cgT		netrin 3							17.0	21.0	20.0					16																	2522817		2190	4294	6484	SO:0001819	synonymous_variant	4917				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix		g.chr16:2522817C>T	U86759	CCDS10469.1	16p13.3	2013-03-01	2008-10-29	2008-10-29	ENSG00000162068	ENSG00000162068		"""Netrins"""	8030	protein-coding gene	gene with protein product	"""Netrin-3"""	602349	"""netrin 2 (chicken)-like"", ""netrin 2-like (chicken)"""	NTN2L		9143507, 10366627	Standard	NM_006181		Approved		uc002cqj.3	O00634	OTTHUMG00000128867	ENST00000293973.1:c.1044C>T	16.37:g.2522817C>T							p.R348R	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN			2	1247	+			348			Laminin EGF-like 2.			Silent	SNP	ENST00000293973.1	37	c.1044C>T	CCDS10469.1																																																																																				0.701	NTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250812.1	NM_006181		17	11	0	0	0	1	0	17	11				
ABCA7	10347	broad.mit.edu	37	19	1053821	1053821	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:1053821A>C	ENST00000263094.6	+	25	3689	c.3458A>C	c.(3457-3459)gAc>gCc	p.D1153A	ABCA7_ENST00000433129.1_Missense_Mutation_p.D1153A|ABCA7_ENST00000435683.2_Missense_Mutation_p.D1015A	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1153					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGCTGCGGACACAGATATG	0.637																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(3457-3459)gAc>gCc		ATP-binding cassette, sub-family A (ABC1), member 7							92.0	92.0	92.0					19																	1053821		2203	4300	6503	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1053821A>C	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.3458A>C	19.37:g.1053821A>C	ENSP00000263094:p.Asp1153Ala					ABCA7_ENST00000435683.2_Missense_Mutation_p.D1015A|ABCA7_ENST00000433129.1_Missense_Mutation_p.D1153A	p.D1153A	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	25	3689	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	1153					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.3458A>C	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	A	8.090	0.774353	0.16051	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.85861	-2.04;-2.04	4.01	4.01	0.46588	.	.	.	.	.	T	0.73385	0.3580	N	0.13098	0.295	0.09310	N	1	B;B	0.26445	0.149;0.001	B;B	0.33339	0.162;0.003	T	0.61695	-0.7010	9	0.28530	T	0.3	.	7.058	0.25109	0.7984:0.0:0.0:0.2016	.	1015;1153	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	A	1153	ENSP00000263094:D1153A;ENSP00000414062:D1153A	ENSP00000263094:D1153A	D	+	2	0	ABCA7	1004821	0.961000	0.32948	0.013000	0.15412	0.033000	0.12548	3.046000	0.49846	1.588000	0.49971	0.260000	0.18958	GAC		0.637	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		18	79	0	0	0	1	0	18	79				
ATP4A	495	broad.mit.edu	37	19	36046393	36046393	+	Silent	SNP	C	C	T	rs143513836	byFrequency	TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:36046393C>T	ENST00000262623.3	-	14	2134	c.2106G>A	c.(2104-2106)gcG>gcA	p.A702A		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	702					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GGCTGGTGCGCGCAAACACCA	0.667													C|||	2	0.000399361	0.0	0.0014	5008	,	,		18701	0.0		0.001	False		,,,				2504	0.0					ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(2104-2106)gcG>gcA		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	C		0,4406		0,0,2203	32.0	34.0	33.0		2106	-8.4	0.6	19	dbSNP_134	33	4,8590	3.7+/-12.6	0,4,4293	no	coding-synonymous	ATP4A	NM_000704.2		0,4,6496	TT,TC,CC		0.0465,0.0,0.0308		702/1036	36046393	4,12996	2203	4297	6500	SO:0001819	synonymous_variant	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36046393C>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.2106G>A	19.37:g.36046393C>T							p.A702A	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		14	2134	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		702					O00738	Silent	SNP	ENST00000262623.3	37	c.2106G>A	CCDS12467.1																																																																																				0.667	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		10	32	0	0	0	1	0	10	32				
MYO18B	84700	broad.mit.edu	37	22	26164406	26164406	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr22:26164406G>A	ENST00000407587.2	+	4	692	c.523G>A	c.(523-525)Gcc>Acc	p.A175T	MYO18B_ENST00000536101.1_Missense_Mutation_p.A175T|MYO18B_ENST00000335473.7_Missense_Mutation_p.A175T			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	175						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCCCCATGACGCCCCCCCTTG	0.597																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(523-525)Gcc>Acc		myosin XVIIIB							21.0	25.0	24.0					22																	26164406		1969	4146	6115	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26164406G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.523G>A	22.37:g.26164406G>A	ENSP00000386096:p.Ala175Thr					MYO18B_ENST00000407587.2_Missense_Mutation_p.A175T|MYO18B_ENST00000536101.1_Missense_Mutation_p.A175T	p.A175T	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			4	773	+			175					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.523G>A		.	.	.	.	.	.	.	.	.	.	A	0.702	-0.790603	0.02884	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86562	-2.12;-2.12;-2.14	4.14	-4.23	0.03789	.	1.477850	0.04895	N	0.450264	T	0.69024	0.3065	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.57075	-0.7873	10	0.14656	T	0.56	.	5.1804	0.15158	0.2061:0.0:0.466:0.3279	.	175;175;175	Q8IUG5;F5GXR6;F5GYU7	MY18B_HUMAN;.;.	T	175	ENSP00000441229:A175T;ENSP00000334563:A175T;ENSP00000386096:A175T	ENSP00000334563:A175T	A	+	1	0	MYO18B	24494406	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.775000	0.04679	-0.807000	0.04393	-0.893000	0.02921	GCC		0.597	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		3	10	0	0	0	1	0	3	10				
AQP4	361	broad.mit.edu	37	18	24445621	24445621	+	Splice_Site	SNP	C	C	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr18:24445621C>A	ENST00000383168.4	-	1	161		c.e1+1		AQP4_ENST00000581374.1_5'Flank|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000440832.3_5'Flank	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4						carbon dioxide transport (GO:0015670)|cellular response to estradiol stimulus (GO:0071392)|cellular response to interferon-gamma (GO:0071346)|female pregnancy (GO:0007565)|hyperosmotic salinity response (GO:0042538)|multicellular organismal water homeostasis (GO:0050891)|protein homooligomerization (GO:0051260)|renal water absorption (GO:0070295)|response to glucocorticoid (GO:0051384)|response to radiation (GO:0009314)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)	porin activity (GO:0015288)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					GAAGGACTTACCCCCACCGCC	0.517																																						ENST00000383168.4																			0				kidney(2)|large_intestine(3)|lung(5)|skin(1)	11						c.e1+1		aquaporin 4							123.0	125.0	124.0					18																	24445621		2203	4300	6503	SO:0001630	splice_region_variant	361				cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity	g.chr18:24445621C>A	U63622	CCDS11889.1, CCDS58617.1	18q11.2-q12.1	2005-09-20			ENSG00000171885	ENSG00000171885		"""Ion channels / Aquaporins"""	637	protein-coding gene	gene with protein product		600308				7528931	Standard	NM_001650		Approved	MIWC	uc002kwa.3	P55087	OTTHUMG00000131955	ENST00000383168.4:c.32+1G>T	18.37:g.24445621C>A						AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000568797.1_RNA		NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN			1	161	-	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)							P78564	Splice_Site	SNP	ENST00000383168.4	37		CCDS11889.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.556039	0.65425	.	.	ENSG00000171885	ENST00000383168;ENST00000440832;ENST00000383170	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.345	0.90318	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AQP4	22699619	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.506000	0.60428	2.603000	0.88011	0.655000	0.94253	.		0.517	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254914.2	NM_001650, NM_004028	Intron	21	90	1	0	6.21321e-17	1	6.55089e-17	21	90				
PTEN	5728	broad.mit.edu	37	10	89624256	89624256	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr10:89624256C>G	ENST00000371953.3	+	1	1387	c.30C>G	c.(28-30)agC>agG	p.S10R	KLLN_ENST00000445946.3_5'Flank	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	10			S -> N (retains phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains the ability to bind phospholipid membranes).		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(13)|p.I8_R14>LRLICIF(1)|p.A3fs*14(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGATCGTTAGCAGAAACAAAA	0.478		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		52	Whole gene deletion(37)|Unknown(13)|Complex - compound substitution(1)|Deletion - Frameshift(1)	p.0?(37)|p.?(13)|p.I8_R14>LRLICIF(1)|p.A3fs*14(1)	prostate(14)|central_nervous_system(10)|skin(7)|lung(6)|ovary(3)|haematopoietic_and_lymphoid_tissue(2)|bone(2)|breast(2)|biliary_tract(1)|stomach(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|kidney(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(28-30)agC>agG		phosphatase and tensin homolog							178.0	171.0	173.0					10																	89624256		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89624256C>G	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.30C>G	10.37:g.89624256C>G	ENSP00000361021:p.Ser10Arg	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.S10R	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	1	1387	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	10		S -> N (retains phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains the ability to bind phospholipid membranes).			B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.30C>G	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648020	0.67358	.	.	ENSG00000171862	ENST00000371953	D	0.96992	-4.2	4.73	4.73	0.59995	.	0.095667	0.64402	D	0.000001	D	0.96586	0.8886	M	0.93808	3.46	0.80722	D	1	B	0.32338	0.365	B	0.34722	0.188	D	0.95927	0.8935	9	.	.	.	-0.1047	10.2054	0.43109	0.0:0.9062:0.0:0.0938	.	10	P60484	PTEN_HUMAN	R	10	ENSP00000361021:S10R	.	S	+	3	2	PTEN	89614236	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.531000	0.45650	2.160000	0.67779	0.561000	0.74099	AGC		0.478	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		24	21	0	0	0	1	0	24	21				
NFKBIA	4792	broad.mit.edu	37	14	35872895	35872895	+	Splice_Site	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr14:35872895C>T	ENST00000216797.5	-	2	438		c.e2+1		NFKBIA_ENST00000557100.1_Splice_Site|NFKBIA_ENST00000557389.1_Splice_Site|NFKBIA_ENST00000557140.1_Splice_Site	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha						apoptotic process (GO:0006915)|cellular response to cold (GO:0070417)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|cytoplasmic sequestering of transcription factor (GO:0042994)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein import into nucleus, translocation (GO:0000060)|regulation of cell proliferation (GO:0042127)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to exogenous dsRNA (GO:0043330)|response to muramyl dipeptide (GO:0032495)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|nuclear localization sequence binding (GO:0008139)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	Acetylsalicylic acid(DB00945)	AAGCGGCGCACCTGCTGCAGG	0.567																																						ENST00000216797.5																			0				breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7						c.e2+1		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha							62.0	53.0	56.0					14																	35872895		2203	4300	6503	SO:0001630	splice_region_variant	4792				anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding	g.chr14:35872895C>T		CCDS9656.1	14q13	2014-09-17			ENSG00000100906	ENSG00000100906		"""Ankyrin repeat domain containing"""	7797	protein-coding gene	gene with protein product		164008		NFKBI		1829648	Standard	NM_020529		Approved	IKBA, MAD-3, IkappaBalpha	uc001wtf.4	P25963	OTTHUMG00000140220	ENST00000216797.5:c.336+1G>A	14.37:g.35872895C>T						NFKBIA_ENST00000557389.1_Splice_Site|NFKBIA_ENST00000557140.1_Splice_Site|NFKBIA_ENST00000557100.1_Splice_Site		NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	2	438	-	Breast(36;0.0484)|Hepatocellular(127;0.158)							B2R8L6	Splice_Site	SNP	ENST00000216797.5	37		CCDS9656.1	.	.	.	.	.	.	.	.	.	.	C	31	5.096882	0.94197	.	.	ENSG00000100906	ENST00000216797;ENST00000557140;ENST00000557389	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3363	0.98740	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NFKBIA	34942646	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.466000	0.80914	2.814000	0.96858	0.563000	0.77884	.		0.567	NFKBIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276683.1	NM_020529	Intron	4	7	0	0	0	1	0	4	7				
OR4A16	81327	broad.mit.edu	37	11	55110940	55110940	+	Silent	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr11:55110940C>T	ENST00000314721.2	+	1	314	c.264C>T	c.(262-264)atC>atT	p.I88I		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GTGATAAAATCGCTATTTCCT	0.438																																						ENST00000314721.2																			0				NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						c.(262-264)atC>atT		olfactory receptor, family 4, subfamily A, member 16							207.0	188.0	194.0					11																	55110940		2201	4296	6497	SO:0001819	synonymous_variant	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55110940C>T	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.264C>T	11.37:g.55110940C>T							p.I88I	NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN			1	314	+			88					Q6IFL3	Silent	SNP	ENST00000314721.2	37	c.264C>T	CCDS31499.1																																																																																				0.438	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		45	76	0	0	0	1	0	45	76				
NLRC4	58484	broad.mit.edu	37	2	32461395	32461395	+	Silent	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr2:32461395G>A	ENST00000404025.2	-	8	3023	c.2535C>T	c.(2533-2535)caC>caT	p.H845H	NLRC4_ENST00000360906.5_Silent_p.H845H|NLRC4_ENST00000342905.6_Silent_p.H180H|NLRC4_ENST00000402280.1_Silent_p.H845H			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	845					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGACCAAATTGTGAAGATTCT	0.303																																						ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(2533-2535)caC>caT		NLR family, CARD domain containing 4							86.0	82.0	84.0					2																	32461395		2203	4300	6503	SO:0001819	synonymous_variant	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32461395G>A	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.2535C>T	2.37:g.32461395G>A						NLRC4_ENST00000402280.1_Silent_p.H845H|NLRC4_ENST00000360906.5_Silent_p.H845H|NLRC4_ENST00000342905.6_Silent_p.H180H	p.H845H			Q9NPP4	NLRC4_HUMAN			8	3023	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		845					A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Silent	SNP	ENST00000404025.2	37	c.2535C>T	CCDS33174.1																																																																																				0.303	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		6	11	0	0	0	1	0	6	11				
DDX42	11325	broad.mit.edu	37	17	61864442	61864442	+	Silent	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr17:61864442G>A	ENST00000578681.1	+	3	634	c.33G>A	c.(31-33)aaG>aaA	p.K11K	DDX42_ENST00000359353.5_Intron|DDX42_ENST00000457800.2_Silent_p.K11K|DDX42_ENST00000389924.2_Silent_p.K11K|DDX42_ENST00000583590.1_Silent_p.K11K	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	11					protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CTGGCACTAAGCGAGGATTTG	0.448																																						ENST00000578681.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						c.(31-33)aaG>aaA		DEAD (Asp-Glu-Ala-Asp) box helicase 42							140.0	144.0	143.0					17																	61864442		2203	4300	6503	SO:0001819	synonymous_variant	11325				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr17:61864442G>A	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.33G>A	17.37:g.61864442G>A						DDX42_ENST00000389924.2_Silent_p.K11K|DDX42_ENST00000359353.5_Intron|DDX42_ENST00000457800.2_Silent_p.K11K|DDX42_ENST00000583590.1_Silent_p.K11K	p.K11K	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN			3	634	+			11					A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Silent	SNP	ENST00000578681.1	37	c.33G>A	CCDS32704.1																																																																																				0.448	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		40	88	0	0	0	1	0	40	88				
C6	729	broad.mit.edu	37	5	41149449	41149449	+	Silent	SNP	G	G	A	rs567176554	byFrequency	TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr5:41149449G>A	ENST00000263413.3	-	17	2781	c.2517C>T	c.(2515-2517)gaC>gaT	p.D839D	C6_ENST00000337836.5_Silent_p.D839D	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	839	C5b-binding domain.|Factor I module (FIM) 1.|Kazal-like 1. {ECO:0000255|PROSITE- ProRule:PRU00798}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACTGGCGGCCGTCTTGGCAGG	0.418													G|||	4	0.000798722	0.0023	0.0	5008	,	,		17945	0.0		0.001	False		,,,				2504	0.0					ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(2515-2517)gaC>gaT		complement component 6							137.0	135.0	135.0					5																	41149449		2203	4300	6503	SO:0001819	synonymous_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41149449G>A	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2517C>T	5.37:g.41149449G>A						C6_ENST00000337836.5_Silent_p.D839D	p.D839D	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			17	2781	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	839			C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1.			Silent	SNP	ENST00000263413.3	37	c.2517C>T	CCDS3936.1																																																																																				0.418	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			35	69	0	0	0	1	0	35	69				
EFCAB3	146779	broad.mit.edu	37	17	60483969	60483969	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr17:60483969C>T	ENST00000305286.3	+	7	695	c.617C>T	c.(616-618)gCt>gTt	p.A206V	EFCAB3_ENST00000450662.2_Missense_Mutation_p.A258V	NM_173503.3	NP_775774.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	206							calcium ion binding (GO:0005509)			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			GCTGCCTTTGCTAATGCTGCC	0.428																																						ENST00000450662.2																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17						c.(772-774)gCt>gTt		EF-hand calcium binding domain 3							73.0	68.0	70.0					17																	60483969		2203	4300	6503	SO:0001583	missense	146779						calcium ion binding	g.chr17:60483969C>T	AK098684	CCDS11632.1, CCDS45751.1	17q23.3	2013-01-10			ENSG00000172421	ENSG00000172421		"""EF-hand domain containing"""	26379	protein-coding gene	gene with protein product						12477932	Standard	NM_173503		Approved	FLJ25818	uc010wpc.2	Q8N7B9	OTTHUMG00000179175	ENST00000305286.3:c.617C>T	17.37:g.60483969C>T	ENSP00000302649:p.Ala206Val					EFCAB3_ENST00000305286.3_Missense_Mutation_p.A206V	p.A258V	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	BRCA - Breast invasive adenocarcinoma(2;2.27e-11)		9	844	+			206					J3KQM8	Missense_Mutation	SNP	ENST00000305286.3	37	c.773C>T	CCDS11632.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925036	0.52759	.	.	ENSG00000172421	ENST00000450662;ENST00000305286	T;T	0.59772	0.24;0.27	5.35	5.35	0.76521	.	0.098567	0.44902	D	0.000414	T	0.68274	0.2983	L	0.52364	1.645	0.40286	D	0.978455	D	0.89917	1.0	D	0.80764	0.994	T	0.62205	-0.6903	10	0.21014	T	0.42	.	14.4283	0.67230	0.0:1.0:0.0:0.0	.	206	Q8N7B9	EFCB3_HUMAN	V	258;206	ENSP00000403932:A258V;ENSP00000302649:A206V	ENSP00000302649:A206V	A	+	2	0	EFCAB3	57837701	0.999000	0.42202	0.998000	0.56505	0.174000	0.22865	3.933000	0.56545	2.785000	0.95823	0.591000	0.81541	GCT		0.428	EFCAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379114.1	NM_173503		18	34	0	0	0	1	0	18	34				
LCE2A	353139	broad.mit.edu	37	1	152671572	152671572	+	Silent	SNP	C	C	T	rs61812675		TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr1:152671572C>T	ENST00000368779.1	+	2	246	c.195C>T	c.(193-195)ggC>ggT	p.G65G		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	65	Cys-rich.				keratinization (GO:0031424)					breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGGGGTGGCGGCTGCTGCC	0.687																																						ENST00000368779.1																			0				breast(1)|large_intestine(1)|liver(2)|lung(4)	8						c.(193-195)ggC>ggT		late cornified envelope 2A							35.0	46.0	42.0					1																	152671572		2200	4297	6497	SO:0001819	synonymous_variant	353139				keratinization			g.chr1:152671572C>T		CCDS1021.1	1q21.3	2008-02-05			ENSG00000187173	ENSG00000187173		"""Late cornified envelopes"""	29469	protein-coding gene	gene with protein product		612609				11698679	Standard	NM_178428		Approved	LEP9	uc001faj.3	Q5TA79	OTTHUMG00000012392	ENST00000368779.1:c.195C>T	1.37:g.152671572C>T							p.G65G	NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	246	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		65			Cys-rich.		A4QMZ9	Silent	SNP	ENST00000368779.1	37	c.195C>T	CCDS1021.1																																																																																				0.687	LCE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034512.1	NM_178428		50	76	0	0	0	1	0	50	76				
TIAM2	26230	broad.mit.edu	37	6	155450785	155450785	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr6:155450785G>A	ENST00000461783.3	+	6	1701	c.428G>A	c.(427-429)aGg>aAg	p.R143K	TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Missense_Mutation_p.R143K|TIAM2_ENST00000529824.2_Missense_Mutation_p.R143K|TIAM2_ENST00000456144.1_Missense_Mutation_p.R143K|TIAM2_ENST00000318981.5_Missense_Mutation_p.R143K			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	143					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGCTACGGGAGGAATGAGAGC	0.567																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(427-429)aGg>aAg		T-cell lymphoma invasion and metastasis 2							75.0	66.0	69.0					6																	155450785		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155450785G>A		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.428G>A	6.37:g.155450785G>A	ENSP00000437188:p.Arg143Lys					TIAM2_ENST00000318981.5_Missense_Mutation_p.R143K|TIAM2_ENST00000456144.1_Missense_Mutation_p.R143K|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000529824.2_Missense_Mutation_p.R143K|TIAM2_ENST00000360366.4_Missense_Mutation_p.R143K	p.R143K			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	6	1701	+		Ovarian(120;0.196)	143					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.428G>A	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.714165	0.00706	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000535583;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.04454	3.74;3.62;3.69;3.74;3.73;3.69	4.73	1.24	0.21308	.	0.710759	0.14072	N	0.343335	T	0.00608	0.0020	N	0.08118	0	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.45789	-0.9237	10	0.10111	T	0.7	.	5.5479	0.17073	0.6384:0.0:0.3616:0.0	.	143	Q8IVF5	TIAM2_HUMAN	K	143;389;143;143;143;143;143;143	ENSP00000437188:R143K;ENSP00000434901:R143K;ENSP00000407746:R143K;ENSP00000327315:R143K;ENSP00000353528:R143K;ENSP00000433348:R143K	ENSP00000327315:R143K	R	+	2	0	TIAM2	155492477	0.004000	0.15560	0.000000	0.03702	0.034000	0.12701	1.602000	0.36783	0.435000	0.26365	0.462000	0.41574	AGG		0.567	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		14	25	0	0	0	1	0	14	25				
GRIA1	2890	broad.mit.edu	37	5	153078545	153078545	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr5:153078545G>A	ENST00000285900.5	+	10	1707	c.1364G>A	c.(1363-1365)cGt>cAt	p.R455H	GRIA1_ENST00000518142.1_Missense_Mutation_p.R375H|GRIA1_ENST00000340592.5_Missense_Mutation_p.R455H|GRIA1_ENST00000521843.2_Missense_Mutation_p.R386H|GRIA1_ENST00000448073.4_Missense_Mutation_p.R465H|GRIA1_ENST00000518783.1_Missense_Mutation_p.R465H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	455					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.R455H(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TACTCCTACCGTCTGGAGATT	0.542																																						ENST00000285900.5																			1	Substitution - Missense(1)	p.R455H(1)	prostate(1)	NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(1363-1365)cGt>cAt		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						95.0	86.0	89.0					5																	153078545		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153078545G>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1364G>A	5.37:g.153078545G>A	ENSP00000285900:p.Arg455His					GRIA1_ENST00000518783.1_Missense_Mutation_p.R465H|GRIA1_ENST00000521843.2_Missense_Mutation_p.R386H|GRIA1_ENST00000518142.1_Missense_Mutation_p.R375H|GRIA1_ENST00000448073.4_Missense_Mutation_p.R465H|GRIA1_ENST00000340592.5_Missense_Mutation_p.R455H	p.R455H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		10	1707	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	455					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.1364G>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045356	0.75846	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.39229	1.67;1.67;1.09;1.67;1.67;1.67;1.09	5.44	4.58	0.56647	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.117144	0.64402	D	0.000015	T	0.42810	0.1219	L	0.37507	1.11	0.40583	D	0.98141	D;D;B;D;P;B	0.54207	0.965;0.965;0.334;0.965;0.897;0.09	P;P;B;P;B;B	0.52109	0.69;0.69;0.105;0.69;0.439;0.042	T	0.43556	-0.9384	10	0.87932	D	0	.	9.5797	0.39479	0.1592:0.0:0.8408:0.0	.	465;465;375;465;455;455	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	H	455;455;375;409;455;386;386;465;465	ENSP00000285900:R455H;ENSP00000427920:R375H;ENSP00000339343:R455H;ENSP00000427864:R386H;ENSP00000442108:R386H;ENSP00000428994:R465H;ENSP00000415569:R465H	ENSP00000285900:R455H	R	+	2	0	GRIA1	153058738	0.996000	0.38824	1.000000	0.80357	0.993000	0.82548	1.664000	0.37439	1.300000	0.44818	-0.136000	0.14681	CGT		0.542	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			12	29	0	0	0	1	0	12	29				
ANKRD20A11P	391267	broad.mit.edu	37	21	15352074	15352074	+	RNA	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr21:15352074C>T	ENST00000344693.5	-	0	684					NR_027270.1				ankyrin repeat domain 20 family, member A11, pseudogene																		CGCCAGACAGCGCTCCATCTC	0.662																																						ENST00000344693.5																			0																																																			0							g.chr21:15352074C>T			21q11.2	2011-11-23			ENSG00000215559	ENSG00000215559			42024	pseudogene	pseudogene			"""chromosome 21 open reading frame 81"""	C21orf81			Standard	NR_027270		Approved		uc002yjj.4		OTTHUMG00000074237		21.37:g.15352074C>T								NR_027270.1						0	684	-									RNA	SNP	ENST00000344693.5	37																																																																																						0.662	ANKRD20A11P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157750.1			8	20	0	0	0	1	0	8	20				
MISP	126353	broad.mit.edu	37	19	757391	757391	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:757391G>A	ENST00000215582.6	+	2	548	c.445G>A	c.(445-447)Ggc>Agc	p.G149S		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	149					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											CGTCATCCAGGGCCAGGCAGT	0.697																																						ENST00000215582.6																			0											c.(445-447)Ggc>Agc		mitotic spindle positioning							33.0	33.0	33.0					19																	757391		2193	4297	6490	SO:0001583	missense	126353							g.chr19:757391G>A	BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"""mitotic interactor and substrate of Plk1"""	615289	"""chromosome 19 open reading frame 21"""	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.445G>A	19.37:g.757391G>A	ENSP00000215582:p.Gly149Ser						p.G149S	NM_173481.2	NP_775752.1					2	548	+									Missense_Mutation	SNP	ENST00000215582.6	37	c.445G>A	CCDS12042.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.684258	0.29872	.	.	ENSG00000099812	ENST00000215582	T	0.61040	0.14	4.5	1.14	0.20703	.	1.904360	0.02373	N	0.078052	T	0.36026	0.0952	N	0.12746	0.255	0.23356	N	0.997841	B	0.20052	0.041	B	0.23574	0.047	T	0.22836	-1.0205	10	0.08381	T	0.77	-9.134	3.8166	0.08818	0.4078:0.1825:0.4097:0.0	.	149	Q8IVT2	CS021_HUMAN	S	149	ENSP00000215582:G149S	ENSP00000215582:G149S	G	+	1	0	C19orf21	708391	0.038000	0.19896	0.863000	0.33907	0.629000	0.37895	0.931000	0.28871	0.331000	0.23511	0.313000	0.20887	GGC		0.697	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2	NM_173481		3	9	0	0	0	1	0	3	9				
ASPN	54829	broad.mit.edu	37	9	95228797	95228797	+	Silent	SNP	G	G	A	rs569274142		TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr9:95228797G>A	ENST00000375544.3	-	4	687	c.444C>T	c.(442-444)acC>acT	p.T148T	ASPN_ENST00000375543.1_Silent_p.T148T|ASPN_ENST00000395538.3_Silent_p.T148T|CENPP_ENST00000375587.3_Intron	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	148					bone mineralization (GO:0030282)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						ACTTCTTTGTGGTTAGAAAGG	0.373													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18548	0.0		0.0	False		,,,				2504	0.0					ENST00000375544.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						c.(442-444)acC>acT		asporin							222.0	212.0	216.0					9																	95228797		2203	4300	6503	SO:0001819	synonymous_variant	54829				bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding	g.chr9:95228797G>A	AF316824		9q22.31	2008-05-14	2007-02-15		ENSG00000106819	ENSG00000106819		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	14872	protein-coding gene	gene with protein product	"""asporin proteoglycan"""	608135	"""asporin (LRR class 1)"""				Standard	NM_017680		Approved	FLJ20129, SLRR1C, PLAP1	uc004ase.2	Q9BXN1	OTTHUMG00000020227	ENST00000375544.3:c.444C>T	9.37:g.95228797G>A						CENPP_ENST00000375587.3_Intron|ASPN_ENST00000375543.1_Silent_p.T148T|ASPN_ENST00000395538.3_Silent_p.T148T	p.T148T	NM_017680.4	NP_060150.4	Q9BXN1	ASPN_HUMAN			4	687	-			148					Q5TBF3|Q96K79|Q96LD0|Q9NXP3	Silent	SNP	ENST00000375544.3	37	c.444C>T																																																																																					0.373	ASPN-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053094.1	NM_017680		34	52	0	0	0	1	0	34	52				
FLNB	2317	broad.mit.edu	37	3	58080624	58080624	+	Silent	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr3:58080624C>T	ENST00000295956.4	+	5	1014	c.849C>T	c.(847-849)agC>agT	p.S283S	FLNB_ENST00000348383.5_Silent_p.S283S|FLNB_ENST00000357272.4_Silent_p.S283S|FLNB_ENST00000493452.1_Silent_p.S114S|FLNB_ENST00000419752.2_Silent_p.S114S|FLNB_ENST00000358537.3_Silent_p.S283S|FLNB_ENST00000490882.1_Silent_p.S283S|FLNB_ENST00000429972.2_Silent_p.S283S	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	283					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ACACCATCAGCGCCGGGCAAG	0.542																																						ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(847-849)agC>agT		filamin B, beta							203.0	185.0	191.0					3																	58080624		2203	4300	6503	SO:0001819	synonymous_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58080624C>T	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.849C>T	3.37:g.58080624C>T						FLNB_ENST00000358537.3_Silent_p.S283S|FLNB_ENST00000348383.5_Silent_p.S283S|FLNB_ENST00000429972.2_Silent_p.S283S|FLNB_ENST00000419752.2_Silent_p.S114S|FLNB_ENST00000493452.1_Silent_p.S114S|FLNB_ENST00000490882.1_Silent_p.S283S|FLNB_ENST00000295956.4_Silent_p.S283S	p.S283S			O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	5	1014	+			283					B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	c.849C>T	CCDS2885.1																																																																																				0.542	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		41	100	0	0	0	1	0	41	100				
CDH8	1006	broad.mit.edu	37	16	62055202	62055202	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr16:62055202G>A	ENST00000577390.1	-	2	1060	c.106C>T	c.(106-108)Caa>Taa	p.Q36*	CDH8_ENST00000299345.6_Nonsense_Mutation_p.Q36*|CDH8_ENST00000577730.1_Nonsense_Mutation_p.Q36*|CDH8_ENST00000584337.1_Nonsense_Mutation_p.Q36*	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	36					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ATTAAAACTTGAGACTGATTC	0.428																																						ENST00000577390.1																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(106-108)Caa>Taa		cadherin 8, type 2							81.0	82.0	82.0					16																	62055202		2203	4300	6503	SO:0001587	stop_gained	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:62055202G>A	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.106C>T	16.37:g.62055202G>A	ENSP00000462701:p.Gln36*					CDH8_ENST00000299345.6_Nonsense_Mutation_p.Q36*|CDH8_ENST00000577730.1_Nonsense_Mutation_p.Q36*|CDH8_ENST00000584337.1_Nonsense_Mutation_p.Q36*	p.Q36*	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	2	1060	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	36					B3KWC1|Q14DC6|Q9ULB2	Nonsense_Mutation	SNP	ENST00000577390.1	37	c.106C>T	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	G	45	12.033246	0.99629	.	.	ENSG00000150394	ENST00000299345	.	.	.	6.17	6.17	0.99709	.	0.696585	0.15025	N	0.284800	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	36	.	ENSP00000299345:Q36X	Q	-	1	0	CDH8	60612703	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	3.798000	0.55522	2.941000	0.99782	0.655000	0.94253	CAA		0.428	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		8	22	0	0	0	1	0	8	22				
TIMP2	7077	broad.mit.edu	37	17	76851869	76851869	+	Silent	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr17:76851869C>T	ENST00000262768.7	-	5	841	c.543G>A	c.(541-543)aaG>aaA	p.K181K	TIMP2_ENST00000536189.2_Silent_p.K104K|TIMP2_ENST00000585421.1_Silent_p.K104K|TIMP2_ENST00000586057.1_Silent_p.K104K|RP11-323N12.5_ENST00000587434.1_RNA	NM_003255.4	NP_003246.1	P16035	TIMP2_HUMAN	TIMP metallopeptidase inhibitor 2	181					aging (GO:0007568)|cellular response to organic substance (GO:0071310)|central nervous system development (GO:0007417)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of proteolysis (GO:0045861)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|regulation of Rap protein signal transduction (GO:0032487)|response to cytokine (GO:0034097)|response to drug (GO:0042493)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)			CGTTGATGTTCTTCTCTGTGA	0.642																																						ENST00000262768.7																			0				central_nervous_system(2)	2						c.(541-543)aaG>aaA		TIMP metallopeptidase inhibitor 2							105.0	81.0	89.0					17																	76851869		2203	4300	6503	SO:0001819	synonymous_variant	7077						metal ion binding|metalloendopeptidase inhibitor activity	g.chr17:76851869C>T		CCDS11758.1	17q25	2008-07-18	2005-08-08		ENSG00000035862	ENSG00000035862			11821	protein-coding gene	gene with protein product		188825	"""tissue inhibitor of metalloproteinase 2"""			1427908	Standard	NM_003255		Approved	CSC-21K	uc002jwf.3	P16035	OTTHUMG00000154517	ENST00000262768.7:c.543G>A	17.37:g.76851869C>T						TIMP2_ENST00000586057.1_Silent_p.K104K|TIMP2_ENST00000536189.2_Silent_p.K104K|RP11-323N12.5_ENST00000587434.1_RNA|TIMP2_ENST00000585421.1_Silent_p.K104K	p.K181K	NM_003255.4	NP_003246.1	P16035	TIMP2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)		5	841	-			181					Q16121|Q93006|Q9UDF7	Silent	SNP	ENST00000262768.7	37	c.543G>A	CCDS11758.1																																																																																				0.642	TIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335662.1	NM_003255		30	52	0	0	0	1	0	30	52				
PLCG2	5336	broad.mit.edu	37	16	81925184	81925184	+	Silent	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr16:81925184G>A	ENST00000359376.3	+	11	1189	c.975G>A	c.(973-975)tcG>tcA	p.S325S		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	325	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GGATCTCCTCGTCACATAACA	0.552																																						ENST00000359376.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(973-975)tcG>tcA		phospholipase C, gamma 2 (phosphatidylinositol-specific)							71.0	74.0	73.0					16																	81925184		2140	4223	6363	SO:0001819	synonymous_variant	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81925184G>A		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.975G>A	16.37:g.81925184G>A							p.S325S	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			11	1189	+			325			PI-PLC X-box.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	ENST00000359376.3	37	c.975G>A	CCDS42204.1																																																																																				0.552	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			5	9	0	0	0	1	0	5	9				
WFS1	7466	broad.mit.edu	37	4	6304060	6304060	+	Silent	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr4:6304060C>T	ENST00000226760.1	+	8	2708	c.2538C>T	c.(2536-2538)agC>agT	p.S846S	WFS1_ENST00000503569.1_Silent_p.S846S	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	846					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		AGGCCATCAGCTGCCTCAACT	0.652																																						ENST00000226760.1																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(2536-2538)agC>agT		Wolfram syndrome 1 (wolframin)							44.0	45.0	45.0					4																	6304060		2203	4300	6503	SO:0001819	synonymous_variant	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6304060C>T	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.2538C>T	4.37:g.6304060C>T						WFS1_ENST00000503569.1_Silent_p.S846S	p.S846S	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	8	2708	+			846					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Silent	SNP	ENST00000226760.1	37	c.2538C>T	CCDS3386.1																																																																																				0.652	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			17	35	0	0	0	1	0	17	35				
SYT9	143425	broad.mit.edu	37	11	7324401	7324401	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr11:7324401G>C	ENST00000318881.6	+	2	514	c.277G>C	c.(277-279)Gac>Cac	p.D93H	SYT9_ENST00000396716.2_Missense_Mutation_p.D61H	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	93					positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TGGTAGCAAAGACAACAACCA	0.562																																						ENST00000318881.6																			0				NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(277-279)Gac>Cac		synaptotagmin IX							190.0	173.0	179.0					11																	7324401		2201	4296	6497	SO:0001583	missense	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7324401G>C	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.277G>C	11.37:g.7324401G>C	ENSP00000324419:p.Asp93His					SYT9_ENST00000396716.2_Missense_Mutation_p.D61H	p.D93H	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	2	514	+			93						Missense_Mutation	SNP	ENST00000318881.6	37	c.277G>C	CCDS7778.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.385719	0.82792	.	.	ENSG00000170743	ENST00000396716;ENST00000318881	T;T	0.40225	1.04;1.04	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.42268	0.1195	L	0.51422	1.61	0.52099	D	0.999941	B	0.13145	0.007	B	0.17098	0.017	T	0.14117	-1.0484	10	0.44086	T	0.13	.	17.8445	0.88725	0.0:0.0:1.0:0.0	.	93	Q86SS6	SYT9_HUMAN	H	61;93	ENSP00000379944:D61H;ENSP00000324419:D93H	ENSP00000324419:D93H	D	+	1	0	SYT9	7280977	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.937000	0.75898	2.808000	0.96608	0.655000	0.94253	GAC		0.562	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		33	72	0	0	0	1	0	33	72				
ADAMTS15	170689	broad.mit.edu	37	11	130343421	130343421	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr11:130343421C>T	ENST00000299164.2	+	8	2558	c.2558C>T	c.(2557-2559)gCg>gTg	p.A853V		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	853	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CCGTGCTCCGCGAGCTGCGGC	0.726																																						ENST00000299164.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36						c.(2557-2559)gCg>gTg		ADAM metallopeptidase with thrombospondin type 1 motif, 15							18.0	24.0	22.0					11																	130343421		2126	4184	6310	SO:0001583	missense	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130343421C>T	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.2558C>T	11.37:g.130343421C>T	ENSP00000299164:p.Ala853Val						p.A853V	NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	8	2558	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	853			TSP type-1 2.		Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	c.2558C>T	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.856720	0.32791	.	.	ENSG00000166106	ENST00000299164	T	0.34667	1.35	5.91	-9.76	0.00503	.	.	.	.	.	T	0.12263	0.0298	N	0.02960	-0.455	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36016	-0.9765	9	0.22706	T	0.39	.	10.7584	0.46251	0.0:0.4573:0.0928:0.4498	.	853	Q8TE58	ATS15_HUMAN	V	853	ENSP00000299164:A853V	ENSP00000299164:A853V	A	+	2	0	ADAMTS15	129848631	0.116000	0.22171	0.000000	0.03702	0.709000	0.40893	0.675000	0.25232	-1.989000	0.00979	-0.937000	0.02696	GCG		0.726	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		17	38	0	0	0	1	0	17	38				
HHIP	64399	broad.mit.edu	37	4	145579961	145579961	+	Silent	SNP	G	G	A	rs146735069		TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr4:145579961G>A	ENST00000296575.3	+	3	1147	c.492G>A	c.(490-492)gcG>gcA	p.A164A	HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000511314.1_3'UTR|HHIP_ENST00000434550.2_Silent_p.A164A	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	164					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		AAACAACTGCGGATGAGTTTT	0.358																																						ENST00000296575.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(490-492)gcG>gcA		hedgehog interacting protein		G		2,4404	4.2+/-10.8	0,2,2201	100.0	107.0	105.0		492	-5.6	0.9	4	dbSNP_134	105	0,8600		0,0,4300	no	coding-synonymous	HHIP	NM_022475.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		164/701	145579961	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145579961G>A	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.492G>A	4.37:g.145579961G>A						HHIP_ENST00000511314.1_3'UTR|HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Silent_p.A164A	p.A164A	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	3	1147	+	all_hematologic(180;0.151)		164					Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Silent	SNP	ENST00000296575.3	37	c.492G>A	CCDS3762.1																																																																																				0.358	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			10	35	0	0	0	1	0	10	35				
FOXN1	8456	broad.mit.edu	37	17	26864332	26864332	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr17:26864332G>C	ENST00000226247.2	+	8	1854	c.1825G>C	c.(1825-1827)Ggt>Cgt	p.G609R	FOXN1_ENST00000579795.1_Missense_Mutation_p.G609R	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	609					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CGGGGCACTGGGTGACCTGCA	0.687																																						ENST00000226247.2																			0				endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1825-1827)Ggt>Cgt		forkhead box N1							35.0	38.0	37.0					17																	26864332		2203	4299	6502	SO:0001583	missense	8456				defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:26864332G>C	Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"""Forkhead boxes"""	12765	protein-coding gene	gene with protein product		600838	"""winged-helix nude"", ""Rowett nude"""	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.1825G>C	17.37:g.26864332G>C	ENSP00000226247:p.Gly609Arg					FOXN1_ENST00000579795.1_Missense_Mutation_p.G609R	p.G609R	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN			8	1854	+	Lung NSC(42;0.00431)		609					B2R9Q7|O15352	Missense_Mutation	SNP	ENST00000226247.2	37	c.1825G>C	CCDS11232.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.061717	0.55432	.	.	ENSG00000109101	ENST00000226247	D	0.93426	-3.22	4.2	3.14	0.36123	.	0.313643	0.27019	N	0.021338	D	0.89269	0.6667	L	0.36672	1.1	0.33062	D	0.534187	P	0.44877	0.845	P	0.46659	0.523	D	0.89811	0.3982	10	0.56958	D	0.05	.	5.2728	0.15634	0.1264:0.3025:0.5711:0.0	.	609	O15353	FOXN1_HUMAN	R	609	ENSP00000226247:G609R	ENSP00000226247:G609R	G	+	1	0	FOXN1	23888459	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	2.764000	0.47613	2.128000	0.65567	0.462000	0.41574	GGT		0.687	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1			17	31	0	0	0	1	0	17	31				
SERPINA3	12	broad.mit.edu	37	14	95090030	95090030	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr14:95090030C>T	ENST00000467132.1	+	5	2299	c.1151C>T	c.(1150-1152)tCt>tTt	p.S384F	SERPINA3_ENST00000393080.4_Missense_Mutation_p.S384F|SERPINA3_ENST00000482740.1_Missense_Mutation_p.S166F|SERPINA3_ENST00000393078.3_Missense_Mutation_p.S384F|RP11-986E7.7_ENST00000553947.1_3'UTR			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	384	O-glycosylated at one site.|RCL.	Reactive bond.			acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		ACCCTCCTTTCTGCATTAGTG	0.498																																						ENST00000553947.1																			0				NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40						c.(1225-1227)tCt>tTt		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3							184.0	159.0	167.0					14																	95090030		2203	4300	6503	SO:0001583	missense	12				acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	g.chr14:95090030C>T	K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"""Serine (or cysteine) peptidase inhibitors"""	16	protein-coding gene	gene with protein product		107280	"""alpha-1-antichymotrypsin"", ""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"""	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.1151C>T	14.37:g.95090030C>T	ENSP00000450540:p.Ser384Phe					SERPINA3_ENST00000482740.1_Missense_Mutation_p.S166F|SERPINA3_ENST00000393080.4_Missense_Mutation_p.S384F|SERPINA3_ENST00000393078.3_Missense_Mutation_p.S384F|SERPINA3_ENST00000467132.1_Missense_Mutation_p.S384F	p.S409F			P01011	AACT_HUMAN		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)	8	2114	+		all_cancers(154;0.0525)|all_epithelial(191;0.179)	384					B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	ENST00000467132.1	37	c.1226C>T	CCDS32150.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138216	0.77775	.	.	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000467132;ENST00000482740	D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54	4.85	4.85	0.62838	Serpin domain (3);	1.067750	0.07322	N	0.877751	D	0.95611	0.8573	M	0.84511	2.7	0.80722	D	1	D;P	0.67145	0.996;0.636	D;B	0.75484	0.986;0.264	D	0.91950	0.5570	10	0.87932	D	0	.	16.9319	0.86192	0.0:1.0:0.0:0.0	.	384;409	P01011;G3V5I3	AACT_HUMAN;.	F	409;384;384;384;166	ENSP00000452367:S409F;ENSP00000376793:S384F;ENSP00000376795:S384F;ENSP00000450540:S384F;ENSP00000451119:S166F	ENSP00000376793:S384F	S	+	2	0	SERPINA3	94159783	0.000000	0.05858	0.109000	0.21407	0.002000	0.02628	0.203000	0.17315	2.397000	0.81536	0.563000	0.77884	TCT		0.498	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3	NM_001085		33	54	0	0	0	1	0	33	54				
OR7C2	26658	broad.mit.edu	37	19	15052351	15052351	+	Silent	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:15052351C>T	ENST00000248072.3	+	1	51	c.51C>T	c.(49-51)ttC>ttT	p.F17F		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					TCCTGGGATTCGCAGAGGACT	0.498																																						ENST00000248072.3																			0				large_intestine(3)|lung(8)|ovary(2)|skin(2)	15						c.(49-51)ttC>ttT		olfactory receptor, family 7, subfamily C, member 2							92.0	89.0	90.0					19																	15052351		2203	4300	6503	SO:0001819	synonymous_variant	26658				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15052351C>T	U86255	CCDS12320.1	19p13.1	2012-08-09				ENSG00000127529		"""GPCR / Class A : Olfactory receptors"""	8374	protein-coding gene	gene with protein product				OR7C3			Standard	NM_012377		Approved	OR19-18	uc010xoc.2	O60412		ENST00000248072.3:c.51C>T	19.37:g.15052351C>T							p.F17F	NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN			1	51	+	Ovarian(108;0.203)		17					O43881|Q6IFP9	Silent	SNP	ENST00000248072.3	37	c.51C>T	CCDS12320.1																																																																																				0.498	OR7C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466281.1			26	82	0	0	0	1	0	26	82				
EGFR	1956	broad.mit.edu	37	7	55223567	55223567	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr7:55223567G>T	ENST00000275493.2	+	8	1111	c.934G>T	c.(934-936)Ggg>Tgg	p.G312W	EGFR_ENST00000420316.2_Missense_Mutation_p.G312W|EGFR_ENST00000455089.1_Missense_Mutation_p.G267W|EGFR_ENST00000344576.2_Missense_Mutation_p.G312W|EGFR_ENST00000442591.1_Missense_Mutation_p.G312W|EGFR_ENST00000342916.3_Missense_Mutation_p.G312W|EGFR_ENST00000454757.2_Missense_Mutation_p.G259W	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	312					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CCGAGCCTGTGGGGCCGACAG	0.607		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(934-936)Ggg>Tgg		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						53.0	50.0	51.0					7																	55223567		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55223567G>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.934G>T	7.37:g.55223567G>T	ENSP00000275493:p.Gly312Trp	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000442591.1_Missense_Mutation_p.G312W|EGFR_ENST00000342916.3_Missense_Mutation_p.G312W|EGFR_ENST00000344576.2_Missense_Mutation_p.G312W|EGFR_ENST00000454757.2_Missense_Mutation_p.G259W|EGFR_ENST00000420316.2_Missense_Mutation_p.G312W|EGFR_ENST00000455089.1_Missense_Mutation_p.G267W	p.G312W	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		8	1111	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		312					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.934G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425581	0.43020	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	D;D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	5.64	0.887	0.19200	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.168730	0.64402	D	0.000006	D	0.87422	0.6173	L	0.50333	1.59	0.26567	N	0.973629	D;P;D;D;D	0.76494	0.989;0.844;0.999;0.996;0.992	P;P;D;P;P	0.70716	0.819;0.808;0.97;0.896;0.827	T	0.79403	-0.1818	10	0.87932	D	0	.	8.8755	0.35343	0.8201:0.0:0.1799:0.0	.	267;312;312;312;312	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	W	267;312;182;312;312;312;312;259;106	ENSP00000415559:G267W;ENSP00000342376:G312W;ENSP00000345973:G312W;ENSP00000413843:G312W;ENSP00000275493:G312W;ENSP00000410031:G312W;ENSP00000395243:G259W	ENSP00000275493:G312W	G	+	1	0	EGFR	55191061	0.309000	0.24518	0.134000	0.22075	0.084000	0.17831	2.561000	0.45905	0.231000	0.21079	0.655000	0.94253	GGG		0.607	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		3323	325	1	0	0	1	0	3323	325				
CDK14	5218	broad.mit.edu	37	7	90377064	90377064	+	Silent	SNP	T	T	C			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr7:90377064T>C	ENST00000380050.3	+	4	569	c.438T>C	c.(436-438)taT>taC	p.Y146Y	CDK14_ENST00000436577.2_Intron|CDK14_ENST00000265741.3_Silent_p.Y128Y|CDK14_ENST00000406263.1_Silent_p.Y100Y			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	146	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						AAGGATCTTATGCTACAGTAT	0.338																																					GBM(83;1228 1256 8311 16577 31299)	ENST00000406263.1																			0				breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						c.(298-300)taT>taC		cyclin-dependent kinase 14							122.0	126.0	125.0					7																	90377064		2203	4299	6502	SO:0001819	synonymous_variant	5218				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	g.chr7:90377064T>C		CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"""Cyclin-dependent kinases"""	8883	protein-coding gene	gene with protein product		610679	"""PFTAIRE protein kinase 1"""	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.438T>C	7.37:g.90377064T>C						CDK14_ENST00000436577.2_Intron|CDK14_ENST00000380050.3_Silent_p.Y146Y|CDK14_ENST00000265741.3_Silent_p.Y128Y	p.Y100Y			O94921	CDK14_HUMAN			3	742	+			146					A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Silent	SNP	ENST00000380050.3	37	c.300T>C																																																																																					0.338	CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000059970.5	NM_012395		17	58	0	0	0	1	0	17	58				
SEC11C	90701	broad.mit.edu	37	18	56816768	56816768	+	Silent	SNP	C	C	T	rs573800787		TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr18:56816768C>T	ENST00000587834.1	+	2	583	c.111C>T	c.(109-111)ttC>ttT	p.F37F	SEC11C_ENST00000588875.1_Silent_p.F37F	NM_033280.2	NP_150596.1	Q9BY50	SC11C_HUMAN	SEC11 homolog C (S. cerevisiae)	37					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(4)|liver(2)|lung(2)	9		Colorectal(73;0.175)				TTTTAAACTTCGCCATGATCG	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		18532	0.0		0.0	False		,,,				2504	0.001					ENST00000587834.1																			0				endometrium(1)|large_intestine(4)|liver(2)|lung(2)	9						c.(109-111)ttC>ttT		SEC11 homolog C (S. cerevisiae)							195.0	179.0	184.0					18																	56816768		2203	4300	6503	SO:0001819	synonymous_variant	90701				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	serine-type peptidase activity	g.chr18:56816768C>T	AF212233	CCDS11970.1	18q21.32	2006-11-07	2006-11-07	2006-11-07	ENSG00000166562	ENSG00000166562			23400	protein-coding gene	gene with protein product			"""SEC11-like 3 (S. cerevisiae)"""	SEC11L3			Standard	NM_033280		Approved	SPC21, SPCS4C	uc002lht.3	Q9BY50	OTTHUMG00000132762	ENST00000587834.1:c.111C>T	18.37:g.56816768C>T						SEC11C_ENST00000588875.1_Silent_p.F37F	p.F37F	NM_033280.2	NP_150596.1	Q9BY50	SC11C_HUMAN			2	583	+		Colorectal(73;0.175)	37					B2RAA3	Silent	SNP	ENST00000587834.1	37	c.111C>T	CCDS11970.1																																																																																				0.493	SEC11C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256134.2	NM_033280		32	59	0	0	0	1	0	32	59				
TLN2	83660	broad.mit.edu	37	15	63032969	63032969	+	Splice_Site	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr15:63032969G>A	ENST00000561311.1	+	31	4255		c.e31+1		TLN2_ENST00000306829.6_Splice_Site			Q9Y4G6	TLN2_HUMAN	talin 2						cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CAGCTGCAAGGTAGGAGTGGG	0.493																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.e31+1		talin 2							70.0	63.0	65.0					15																	63032969		2203	4300	6503	SO:0001630	splice_region_variant	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63032969G>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.4025+1G>A	15.37:g.63032969G>A						TLN2_ENST00000306829.6_Splice_Site				Q9Y4G6	TLN2_HUMAN			31	4255	+								A6NLB8	Splice_Site	SNP	ENST00000561311.1	37		CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531186	0.85706	.	.	ENSG00000171914	ENST00000306829	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7157	0.96119	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TLN2	60820261	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.813000	0.99286	2.749000	0.94314	0.655000	0.94253	.		0.493	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2		Intron	11	11	0	0	0	1	0	11	11				
ATP8B3	148229	broad.mit.edu	37	19	1785489	1785489	+	Silent	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:1785489G>A	ENST00000310127.6	-	26	3610	c.3372C>T	c.(3370-3372)tgC>tgT	p.C1124C	ATP8B3_ENST00000525591.1_Silent_p.C1087C|ATP8B3_ENST00000539485.1_Silent_p.C1134C	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1124					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGACAGCAGGCAAGACAGGG	0.647																																						ENST00000539485.1																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(3400-3402)tgC>tgT		ATPase, aminophospholipid transporter, class I, type 8B, member 3							37.0	43.0	41.0					19																	1785489		2070	4182	6252	SO:0001819	synonymous_variant	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1785489G>A	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.3372C>T	19.37:g.1785489G>A						ATP8B3_ENST00000310127.6_Silent_p.C1124C|ATP8B3_ENST00000525591.1_Silent_p.C1087C	p.C1134C			O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	26	3635	-		Hepatocellular(1079;0.137)	1124					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Silent	SNP	ENST00000310127.6	37	c.3402C>T	CCDS45901.1																																																																																				0.647	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		6	30	0	0	0	1	0	6	30				
STOML1	9399	broad.mit.edu	37	15	74281475	74281475	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr15:74281475G>A	ENST00000316900.5	-	3	488	c.364C>T	c.(364-366)Cga>Tga	p.R122*	STOML1_ENST00000541638.1_Nonsense_Mutation_p.R80*|STOML1_ENST00000561656.1_Nonsense_Mutation_p.R35*|STOML1_ENST00000316911.6_Intron|STOML1_ENST00000359750.4_Nonsense_Mutation_p.R122*|STOML1_ENST00000564777.1_Intron	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	122						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TTGAAGGCTCGTGTCCTCAGA	0.602																																						ENST00000316900.5																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						c.(364-366)Cga>Tga		stomatin (EPB72)-like 1							61.0	56.0	58.0					15																	74281475		2198	4297	6495	SO:0001587	stop_gained	9399					integral to membrane	sterol binding	g.chr15:74281475G>A	Y16522	CCDS10254.1, CCDS58381.1, CCDS58382.1, CCDS58383.1, CCDS58384.1, CCDS58385.1	15q24-q25	2008-07-18			ENSG00000067221	ENSG00000067221			14560	protein-coding gene	gene with protein product	"""stomatin-like 1"", ""stomatin (EBP72)-like 1"""	608326				9931417	Standard	NM_004809		Approved	hUNC-24, SLP-1, STORP, FLJ36370	uc002awe.4	Q9UBI4	OTTHUMG00000137608	ENST00000316900.5:c.364C>T	15.37:g.74281475G>A	ENSP00000319323:p.Arg122*					STOML1_ENST00000541638.1_Nonsense_Mutation_p.R80*|STOML1_ENST00000359750.4_Nonsense_Mutation_p.R122*|STOML1_ENST00000564777.1_Intron|STOML1_ENST00000316911.6_Intron|STOML1_ENST00000561656.1_Nonsense_Mutation_p.R35*	p.R122*	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN			3	488	-			122					B3KQN0|B4DUU5|B4DXM9|E7ESC0|H3BRP3|O95675|Q4PNR4|Q6FGL8|Q8WYI7|Q9UMB9|Q9UMC0|Q9Y6H9	Nonsense_Mutation	SNP	ENST00000316900.5	37	c.364C>T	CCDS10254.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.981281	0.53827	.	.	ENSG00000067221	ENST00000316900;ENST00000541638;ENST00000359750	.	.	.	4.97	2.89	0.33648	.	0.055837	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.2598	12.0283	0.53384	0.0:0.0:0.5675:0.4325	.	.	.	.	X	122;80;122	.	ENSP00000319323:R122X	R	-	1	2	STOML1	72068528	0.985000	0.35326	0.639000	0.29394	0.002000	0.02628	1.442000	0.35046	1.066000	0.40716	0.467000	0.42956	CGA		0.602	STOML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269022.1	NM_004809		3	22	0	0	0	1	0	3	22				
HSD17B2	3294	broad.mit.edu	37	16	82104638	82104638	+	Silent	SNP	C	C	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr16:82104638C>T	ENST00000199936.4	+	3	763	c.570C>T	c.(568-570)gcC>gcT	p.A190A	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	190					in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|response to retinoic acid (GO:0032526)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						AATGCATGGCCGTGAACTTCT	0.488																																						ENST00000199936.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(568-570)gcC>gcT		hydroxysteroid (17-beta) dehydrogenase 2	NADH(DB00157)						153.0	148.0	150.0					16																	82104638		2201	4300	6501	SO:0001819	synonymous_variant	3294				response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity	g.chr16:82104638C>T		CCDS10936.1	16q24.1-q24.2	2011-09-14			ENSG00000086696	ENSG00000086696	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5211	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 2"""	109685				7759109, 19027726	Standard	NM_002153		Approved	HSD17, SDR9C2	uc002fgv.3	P37059	OTTHUMG00000137631	ENST00000199936.4:c.570C>T	16.37:g.82104638C>T						RP11-510J16.5_ENST00000567021.1_RNA	p.A190A	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN			3	763	+			190					B2R7T4	Silent	SNP	ENST00000199936.4	37	c.570C>T	CCDS10936.1																																																																																				0.488	HSD17B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269057.2	NM_002153		16	40	0	0	0	1	0	16	40				
ZBTB40	9923	broad.mit.edu	37	1	22852748	22852748	+	Silent	SNP	G	G	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr1:22852748G>A	ENST00000375647.4	+	18	3786	c.3579G>A	c.(3577-3579)gaG>gaA	p.E1193E	ZBTB40_ENST00000404138.1_Silent_p.E1193E|ZBTB40_ENST00000374651.4_Silent_p.E1081E	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	1193					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TCACTTTGGAGGAGACCCAGC	0.592																																						ENST00000404138.1																			0				endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(3577-3579)gaG>gaA		zinc finger and BTB domain containing 40							104.0	101.0	102.0					1																	22852748		2203	4300	6503	SO:0001819	synonymous_variant	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22852748G>A	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.3579G>A	1.37:g.22852748G>A						ZBTB40_ENST00000374651.4_Silent_p.E1081E|ZBTB40_ENST00000375647.4_Silent_p.E1193E	p.E1193E	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	19	4090	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	1193					O75066|Q5TFU5|Q8N1R1	Silent	SNP	ENST00000375647.4	37	c.3579G>A	CCDS224.1																																																																																				0.592	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		15	64	0	0	0	1	0	15	64				
ZC3H11A	9877	broad.mit.edu	37	1	203818970	203818971	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr1:203818970_203818971insG	ENST00000545588.1	+	14	5582_5583	c.1755_1756insG	c.(1756-1758)gccfs	p.A586fs	ZC3H11A_ENST00000332127.4_Frame_Shift_Ins_p.A586fs|ZC3H11A_ENST00000367214.1_Frame_Shift_Ins_p.A586fs|ZC3H11A_ENST00000367212.3_Frame_Shift_Ins_p.A586fs|ZC3H11A_ENST00000367210.1_Frame_Shift_Ins_p.A586fs	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	586					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GGGGAGATGTAGCCTCTTGCAA	0.5																																						ENST00000545588.1																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1753-1758)gtcctcfs		zinc finger CCCH-type containing 11A																																				SO:0001589	frameshift_variant	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203818970_203818971insG		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.1756dupG	1.37:g.203818971_203818971dupG	ENSP00000438527:p.Ala586fs					ZC3H11A_ENST00000367210.1_Frame_Shift_Ins_p.L586fs|ZC3H11A_ENST00000367212.3_Frame_Shift_Ins_p.L586fs|ZC3H11A_ENST00000367214.1_Frame_Shift_Ins_p.L586fs|ZC3H11A_ENST00000332127.4_Frame_Shift_Ins_p.L586fs	p.L586fs	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		14	5582_5583	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		586					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Frame_Shift_Ins	INS	ENST00000545588.1	37	c.1755_1756insG	CCDS30978.1																																																																																				0.500	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		16	44						16	44	---	---	---	---
SAP130	79595	broad.mit.edu	37	2	128707774	128707776	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr2:128707774_128707776delCAC	ENST00000259235.3	-	16	2731_2733	c.2602_2604delGTG	c.(2602-2604)gtgdel	p.V868del	SAP130_ENST00000357702.5_In_Frame_Del_p.V903del|SAP130_ENST00000259234.6_In_Frame_Del_p.V876del	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	868	Interactions with SIN3A and HDAC1.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TCTCAGCCTTCACCAGAAGACTC	0.468																																						ENST00000357702.5																			0				NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45						c.(2707-2709)del		Sin3A-associated protein, 130kDa																																				SO:0001651	inframe_deletion	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128707774_128707776delCAC	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.2602_2604delGTG	2.37:g.128707774_128707776delCAC	ENSP00000259235:p.Val868del					SAP130_ENST00000259235.3_In_Frame_Del_p.V868del|SAP130_ENST00000259234.6_In_Frame_Del_p.V876del	p.V903del	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	17	2838_2840	-	Colorectal(110;0.1)		868			Interactions with SIN3A and HDAC1.		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	In_Frame_Del	DEL	ENST00000259235.3	37	c.2707_2709delGTG	CCDS2153.1																																																																																				0.468	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		34	73						34	73	---	---	---	---
AADACL2	344752	broad.mit.edu	37	3	151475059	151475062	+	Frame_Shift_Del	DEL	TATG	TATG	-			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr3:151475059_151475062delTATG	ENST00000356517.3	+	5	992_995	c.883_886delTATG	c.(883-888)tatgtafs	p.YV295fs	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	295						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TAGAAAAGACTATGTATATACTGA	0.397																																						ENST00000356517.3																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24						c.(883-888)tafs		arylacetamide deacetylase-like 2																																				SO:0001589	frameshift_variant	344752					extracellular region|integral to membrane	carboxylesterase activity	g.chr3:151475059_151475062delTATG	BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953			24427	protein-coding gene	gene with protein product							Standard	NM_207365		Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.883_886delTATG	3.37:g.151475059_151475062delTATG	ENSP00000348911:p.Tyr295fs					RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	p.YV295fs	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		5	992_995	+			295					Q5HYJ4	Frame_Shift_Del	DEL	ENST00000356517.3	37	c.883_886delTATG	CCDS3161.2																																																																																				0.397	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342288.3	NM_207365		16	38						16	38	---	---	---	---
PRUNE2	158471	broad.mit.edu	37	9	79318755	79318758	+	Frame_Shift_Del	DEL	CTAA	CTAA	-	rs371921844		TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr9:79318755_79318758delCTAA	ENST00000376718.3	-	9	7894_7897	c.7771_7774delTTAG	c.(7771-7776)ttagcafs	p.LA2591fs	PRUNE2_ENST00000428286.1_Frame_Shift_Del_p.LA2232fs	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2591					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGGAAGCTTGCTAACTGAGTTCCC	0.417																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(6694-6699)cafs		prune homolog 2 (Drosophila)																																				SO:0001589	frameshift_variant	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79318755_79318758delCTAA	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.7771_7774delTTAG	9.37:g.79318755_79318758delCTAA	ENSP00000365908:p.Leu2591fs					PRUNE2_ENST00000376718.3_Frame_Shift_Del_p.LA2591fs	p.LA2232fs			Q8WUY3	PRUN2_HUMAN			9	7894_7897	-			2591					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Frame_Shift_Del	DEL	ENST00000376718.3	37	c.6694_6697delTTAG	CCDS47982.1																																																																																				0.417	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		14	44						14	44	---	---	---	---
CCDC87	55231	broad.mit.edu	37	11	66358631	66358633	+	In_Frame_Del	DEL	TCT	TCT	-	rs535066162		TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr11:66358631_66358633delTCT	ENST00000333861.3	-	1	1921_1923	c.1854_1856delAGA	c.(1852-1857)gaagag>gag	p.618_619EE>E	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	618					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CACAGGAACCTCTTCTTCATGCA	0.473																																						ENST00000333861.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(1852-1857)gag>ga		coiled-coil domain containing 87				3,4259		0,3,2128						-1.9	0.2			112	18,8232		0,18,4107	no	coding	CCDC87	NM_018219.2		0,21,6235	A1A1,A1R,RR		0.2182,0.0704,0.1678				21,12491				SO:0001651	inframe_deletion	55231							g.chr11:66358631_66358633delTCT	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.1854_1856delAGA	11.37:g.66358634_66358636delTCT	ENSP00000328487:p.Glu619del						p.EE618del	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN			1	1921_1923	-			618					Q8NE76	In_Frame_Del	DEL	ENST00000333861.3	37	c.1854_1856delAGA	CCDS8145.1																																																																																				0.473	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		21	60						21	60	---	---	---	---
PRX	57716	broad.mit.edu	37	19	40900042	40900043	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:40900042_40900043delTT	ENST00000324001.7	-	7	4486_4487	c.4216_4217delAA	c.(4216-4218)aagfs	p.K1406fs	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1406					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTTGGGTGACTTCTCTCTGACG	0.688																																						ENST00000324001.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(4216-4218)gfs		periaxin																																				SO:0001589	frameshift_variant	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40900042_40900043delTT	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.4216_4217delAA	19.37:g.40900042_40900043delTT	ENSP00000326018:p.Lys1406fs					PRX_ENST00000291825.7_3'UTR	p.K1406fs	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	4486_4487	-			1406					Q9BXL9|Q9HCF2	Frame_Shift_Del	DEL	ENST00000324001.7	37	c.4216_4217delAA	CCDS33028.1																																																																																				0.688	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		39	130						39	130	---	---	---	---
CUL4B	8450	broad.mit.edu	37	X	119678463	119678465	+	In_Frame_Del	DEL	ATA	ATA	-	rs144312827		TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chrX:119678463_119678465delATA	ENST00000404115.3	-	8	1409_1411	c.1008_1010delTAT	c.(1006-1011)attata>ata	p.336_337II>I	CUL4B_ENST00000336592.6_In_Frame_Del_p.323_324II>I|CUL4B_ENST00000371322.5_In_Frame_Del_p.318_319II>I|snoU13_ENST00000605987.1_RNA	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	336					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTGATCACTTATAATATGAGCCC	0.35																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(952-957)ata>at		cullin 4B																																				SO:0001651	inframe_deletion	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119678463_119678465delATA	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.1008_1010delTAT	X.37:g.119678466_119678468delATA	ENSP00000384109:p.Ile337del					CUL4B_ENST00000336592.6_In_Frame_Del_p.II323del|CUL4B_ENST00000404115.3_In_Frame_Del_p.II336del	p.II318del	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			6	1015_1017	-			336					B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	In_Frame_Del	DEL	ENST00000404115.3	37	c.954_956delTAT	CCDS35379.1																																																																																				0.350	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		5	8						5	8	---	---	---	---
