#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
GPR21	2844	broad.mit.edu	37	9	125797765	125797765	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:125797765C>T	ENST00000373642.1	+	1	960	c.920C>T	c.(919-921)tCc>tTc	p.S307F	RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373647.4_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	307					G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|negative regulation of insulin receptor signaling pathway (GO:0046627)|positive regulation of multicellular organism growth (GO:0040018)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						TATAGTCTCTCCAACAGTGTA	0.473																																						ENST00000373642.1																			0				endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						c.(919-921)tCc>tTc		G protein-coupled receptor 21							89.0	88.0	89.0					9																	125797765		2203	4300	6503	SO:0001583	missense	2844					integral to plasma membrane	G-protein coupled receptor activity	g.chr9:125797765C>T	BC066885	CCDS6849.1	9q33	2012-08-21			ENSG00000188394	ENSG00000188394		"""GPCR / Class A : Orphans"""	4476	protein-coding gene	gene with protein product		601909					Standard	NM_005294		Approved		uc011lzk.3	Q99679	OTTHUMG00000020631	ENST00000373642.1:c.920C>T	9.37:g.125797765C>T	ENSP00000362746:p.Ser307Phe					RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000373643.5_Intron	p.S307F	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN			1	960	+			307					B2R8W9|Q6NXU2	Missense_Mutation	SNP	ENST00000373642.1	37	c.920C>T	CCDS6849.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891884	0.72524	.	.	ENSG00000188394	ENST00000373642	T	0.35048	1.33	6.03	6.03	0.97812	.	0.077453	0.52532	U	0.000075	T	0.48484	0.1502	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.13575	-1.0504	10	0.08837	T	0.75	-15.6727	20.5568	0.99304	0.0:1.0:0.0:0.0	.	307	Q99679	GPR21_HUMAN	F	307	ENSP00000362746:S307F	ENSP00000362746:S307F	S	+	2	0	GPR21	124837586	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.861000	0.98227	0.655000	0.94253	TCC		0.473	GPR21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053965.1	NM_005294		58	327	0	0	0	1	0	58	327				
PITPNM3	83394	broad.mit.edu	37	17	6364736	6364736	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:6364736G>A	ENST00000262483.8	-	18	2534	c.2447C>T	c.(2446-2448)cCg>cTg	p.P816L	PITPNM3_ENST00000576664.1_5'UTR|PITPNM3_ENST00000421306.3_Missense_Mutation_p.P780L	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	816					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CTGCCGCAGCGGGTCATGCAC	0.637																																						ENST00000262483.8																			0											c.(2446-2448)cCg>cTg									127.0	114.0	118.0					17																	6364736		2203	4300	6503	SO:0001583	missense	0							g.chr17:6364736G>A	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.2447C>T	17.37:g.6364736G>A	ENSP00000262483:p.Pro816Leu					ACKR6_ENST00000421306.3_Missense_Mutation_p.P780L|ACKR6_ENST00000576664.1_5'UTR	p.P816L	NM_031220.3	NP_112497.2					18	2534	-								A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	c.2447C>T	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824658	0.90955	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	D;D	0.88664	-2.41;-2.41	4.94	4.94	0.65067	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.000000	0.85682	D	0.000000	D	0.94262	0.8157	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	0.992;1.0	P;D	0.91635	0.837;0.999	D	0.94319	0.7552	10	0.49607	T	0.09	.	15.6383	0.76973	0.0:0.0:1.0:0.0	.	780;816	F8WEW5;Q9BZ71	.;PITM3_HUMAN	L	816;780	ENSP00000262483:P816L;ENSP00000407882:P780L	ENSP00000262483:P816L	P	-	2	0	PITPNM3	6305460	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.744000	0.98853	2.293000	0.77203	0.462000	0.41574	CCG		0.637	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		36	535	0	0	0	1	0	36	535				
EN1	2019	broad.mit.edu	37	2	119600717	119600717	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:119600717G>A	ENST00000295206.6	-	2	1486	c.976C>T	c.(976-978)Cgc>Tgc	p.R326C	EN1_ENST00000546667.1_5'Flank	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	326					anatomical structure morphogenesis (GO:0009653)|dorsal/ventral pattern formation (GO:0009953)|embryonic forelimb morphogenesis (GO:0035115)|hindbrain development (GO:0030902)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|multicellular organism growth (GO:0035264)|neuron development (GO:0048666)|pigmentation (GO:0043473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|response to cocaine (GO:0042220)|skeletal system development (GO:0001501)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						GTGATGTAGCGGTTTGCCTGG	0.597																																						ENST00000295206.6																			0				endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						c.(976-978)Cgc>Tgc		engrailed homeobox 1							52.0	46.0	48.0					2																	119600717		2203	4300	6503	SO:0001583	missense	2019				skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:119600717G>A	L12699	CCDS2123.1	2q14.2	2011-06-20	2007-02-15		ENSG00000163064	ENSG00000163064		"""Homeoboxes / ANTP class : NKL subclass"""	3342	protein-coding gene	gene with protein product		131290				8094370	Standard	NM_001426		Approved		uc002tlm.3	Q05925	OTTHUMG00000131401	ENST00000295206.6:c.976C>T	2.37:g.119600717G>A	ENSP00000295206:p.Arg326Cys						p.R326C	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN			2	1486	-			326					Q4ZG44	Missense_Mutation	SNP	ENST00000295206.6	37	c.976C>T	CCDS2123.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270170	0.80469	.	.	ENSG00000163064	ENST00000295206	D	0.95918	-3.85	4.72	4.72	0.59763	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98216	0.9410	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.98991	1.0808	10	0.87932	D	0	-16.2565	12.4103	0.55464	0.0:0.0:0.8317:0.1683	.	326	Q05925	HME1_HUMAN	C	326	ENSP00000295206:R326C	ENSP00000295206:R326C	R	-	1	0	EN1	119317187	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.643000	0.74334	2.174000	0.68829	0.555000	0.69702	CGC		0.597	EN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254191.3			11	119	0	0	0	1	0	11	119				
C19orf40	91442	broad.mit.edu	37	19	33467438	33467438	+	Silent	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr19:33467438C>T	ENST00000588258.1	+	5	608	c.498C>T	c.(496-498)atC>atT	p.I166I	C19orf40_ENST00000590281.1_Silent_p.I166I|C19orf40_ENST00000589646.1_Silent_p.I71I|C19orf40_ENST00000590179.1_Silent_p.I71I	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	166	RuvA domain 2-like.				DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					TGCAGCAGATCCCAGGAGTTG	0.532								Direct reversal of damage			OREG0025408	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000588258.1																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						c.(496-498)atC>atT	Direct reversal of damage	chromosome 19 open reading frame 40							115.0	105.0	109.0					19																	33467438		2203	4300	6503	SO:0001819	synonymous_variant	91442				DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding	g.chr19:33467438C>T	AK128668	CCDS12426.1, CCDS74327.1	19q13.11	2011-11-24			ENSG00000131944	ENSG00000131944			28467	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 24kDa"""	610884				17289582	Standard	XM_005259393		Approved	FLJ46828, MGC32020, FAAP24	uc002nud.4	Q9BTP7		ENST00000588258.1:c.498C>T	19.37:g.33467438C>T			OREG0025408	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	840	C19orf40_ENST00000589646.1_Silent_p.I71I|C19orf40_ENST00000590179.1_Silent_p.I71I|C19orf40_ENST00000590281.1_Silent_p.I166I	p.I166I	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN			5	608	+	Esophageal squamous(110;0.137)		166			RuvA domain 2-like.		B3KY46|Q8WUJ7|Q96FX6	Silent	SNP	ENST00000588258.1	37	c.498C>T	CCDS12426.1																																																																																				0.532	C19orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450823.2	NM_152266		94	583	0	0	0	1	0	94	583				
CRB2	286204	broad.mit.edu	37	9	126133673	126133673	+	Missense_Mutation	SNP	T	T	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:126133673T>A	ENST00000373631.3	+	8	2253	c.2252T>A	c.(2251-2253)cTc>cAc	p.L751H	CRB2_ENST00000359999.3_Missense_Mutation_p.L751H|CRB2_ENST00000373629.2_Missense_Mutation_p.L419H	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	751	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GGTGGGAGGCTCCTTGCTGCC	0.682																																						ENST00000373631.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						c.(2251-2253)cTc>cAc		crumbs homolog 2 (Drosophila)							58.0	62.0	60.0					9																	126133673		2203	4299	6502	SO:0001583	missense	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126133673T>A	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.2252T>A	9.37:g.126133673T>A	ENSP00000362734:p.Leu751His					CRB2_ENST00000359999.3_Missense_Mutation_p.L751H|CRB2_ENST00000373629.2_Missense_Mutation_p.L419H	p.L751H	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN			8	2253	+			751			Laminin G-like 2.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	c.2252T>A	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	.	9.374	1.071371	0.20147	.	.	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	T;T;T	0.79940	-1.32;-1.32;-1.32	4.92	-6.47	0.01902	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	2.093540	0.02225	N	0.064321	T	0.70954	0.3283	L	0.57536	1.79	0.09310	N	1	B;B	0.28933	0.085;0.228	B;B	0.26969	0.023;0.075	T	0.53767	-0.8392	10	0.18276	T	0.48	.	4.9666	0.14094	0.0919:0.4228:0.2781:0.2072	.	751;751	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	H	751;751;419	ENSP00000353092:L751H;ENSP00000362734:L751H;ENSP00000362732:L419H	ENSP00000353092:L751H	L	+	2	0	CRB2	125173494	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	0.114000	0.15520	-1.186000	0.02713	-0.376000	0.06991	CTC		0.682	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		45	443	0	0	0	1	0	45	443				
ATP10A	57194	broad.mit.edu	37	15	25924728	25924728	+	Silent	SNP	G	G	T	rs375852660	byFrequency	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr15:25924728G>T	ENST00000356865.6	-	21	4371	c.4260C>A	c.(4258-4260)acC>acA	p.T1420T		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1420					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCACCCTGCCGGTGCTGGCAG	0.642																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(4258-4260)acC>acA		ATPase, class V, type 10A							44.0	41.0	42.0					15																	25924728		2203	4300	6503	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25924728G>T	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.4260C>A	15.37:g.25924728G>T							p.T1420T	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	21	4371	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	1420					Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.4260C>A	CCDS32178.1																																																																																				0.642	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		56	266	1	0	6.56871e-35	1	7.05693e-35	56	266				
MCM10	55388	broad.mit.edu	37	10	13234464	13234464	+	Silent	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr10:13234464C>T	ENST00000484800.2	+	13	1747	c.1644C>T	c.(1642-1644)agC>agT	p.S548S	MCM10_ENST00000378714.3_Silent_p.S547S|MCM10_ENST00000378694.1_Silent_p.S547S			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	548					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						TTATGGGGAGCCCAAAACCAG	0.542																																						ENST00000378694.1																			0				central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						c.(1639-1641)agC>agT		minichromosome maintenance complex component 10							99.0	96.0	97.0					10																	13234464		2203	4300	6503	SO:0001819	synonymous_variant	55388				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding	g.chr10:13234464C>T	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.1644C>T	10.37:g.13234464C>T						MCM10_ENST00000378714.3_Silent_p.S547S|MCM10_ENST00000484800.2_Silent_p.S548S	p.S547S			Q7L590	MCM10_HUMAN			12	1716	+			548					A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Silent	SNP	ENST00000484800.2	37	c.1641C>T	CCDS7096.1																																																																																				0.542	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751		29	322	0	0	0	1	0	29	322				
DPPA4	55211	broad.mit.edu	37	3	109050853	109050853	+	Silent	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:109050853C>T	ENST00000335658.6	-	3	258	c.204G>A	c.(202-204)gaG>gaA	p.E68E	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	68					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TGTCAGTGTGCTCTGCCTTTT	0.423																																						ENST00000335658.6																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(202-204)gaG>gaA		developmental pluripotency associated 4							159.0	157.0	158.0					3																	109050853		2203	4300	6503	SO:0001819	synonymous_variant	55211					nucleus	protein binding	g.chr3:109050853C>T	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.204G>A	3.37:g.109050853C>T						DPPA4_ENST00000478791.1_5'UTR	p.E68E	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN			3	258	-			68					A8K4M7|Q9H9N5|Q9NVI6	Silent	SNP	ENST00000335658.6	37	c.204G>A	CCDS33814.1																																																																																				0.423	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353897.1	NM_018189		47	562	0	0	0	1	0	47	562				
NOS1	4842	broad.mit.edu	37	12	117662844	117662844	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:117662844C>T	ENST00000338101.4	-	25	3909	c.3905G>A	c.(3904-3906)cGg>cAg	p.R1302Q	NOS1_ENST00000317775.6_Missense_Mutation_p.R1268Q|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		ATCAAATTGCCGCTGTTGCCA	0.607																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(3802-3804)cGg>cAg		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						147.0	159.0	155.0					12																	117662844		1948	4147	6095	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117662844C>T		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.3905G>A	12.37:g.117662844C>T	ENSP00000337459:p.Arg1302Gln					NOS1_ENST00000338101.4_Missense_Mutation_p.R1302Q|NOS1_ENST00000344089.3_3'UTR	p.R1268Q	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	25	4488	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1268						Missense_Mutation	SNP	ENST00000338101.4	37	c.3803G>A	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	C	35	5.536793	0.96460	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000338101	D;D	0.84873	-1.91;-1.91	4.93	4.93	0.64822	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.000000	0.85682	D	0.000000	D	0.93887	0.8044	M	0.90922	3.16	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.94649	0.7837	10	0.56958	D	0.05	-31.3949	18.3244	0.90248	0.0:1.0:0.0:0.0	.	1268	P29475	NOS1_HUMAN	Q	1163;1268;1302	ENSP00000320758:R1268Q;ENSP00000337459:R1302Q	ENSP00000320758:R1268Q	R	-	2	0	NOS1	116147227	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.629000	0.83207	2.555000	0.86185	0.561000	0.74099	CGG		0.607	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			116	1115	0	0	0	1	0	116	1115				
OR2H2	7932	broad.mit.edu	37	6	29555744	29555744	+	Missense_Mutation	SNP	C	C	T	rs550213872	byFrequency	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr6:29555744C>T	ENST00000383640.2	+	1	62	c.23C>T	c.(22-24)cCg>cTg	p.P8L	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	8					defense response (GO:0006952)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|mating (GO:0007618)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						AGCTCCACACCGGGCTTCCTC	0.522													C|||	2	0.000399361	0.0	0.0	5008	,	,		19655	0.0		0.0	False		,,,				2504	0.002					ENST00000383640.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						c.(22-24)cCg>cTg		olfactory receptor, family 2, subfamily H, member 2							134.0	144.0	141.0					6																	29555744		1511	2709	4220	SO:0001583	missense	7932				defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29555744C>T		CCDS34365.1	6p22.2-p21.31	2012-08-09				ENSG00000204657		"""GPCR / Class A : Olfactory receptors"""	8253	protein-coding gene	gene with protein product		600578					Standard	XM_005249407		Approved	hs6M1-12	uc003nmr.1	O95918		ENST00000383640.2:c.23C>T	6.37:g.29555744C>T	ENSP00000373136:p.Pro8Leu					GABBR1_ENST00000355973.3_Intron	p.P8L	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN			1	62	+			8					Q15062|Q2M1Y3|Q5STL8|Q5SUK1|Q6IFN7|Q6NTB7|Q96R14	Missense_Mutation	SNP	ENST00000383640.2	37	c.23C>T	CCDS34365.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.991784	0.00439	.	.	ENSG00000204657	ENST00000383640	T	0.00452	7.34	4.0	-8.0	0.01126	.	2.301840	0.02378	N	0.078587	T	0.00039	0.0001	N	0.03177	-0.4	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42766	-0.9432	10	0.34782	T	0.22	.	1.8197	0.03108	0.4082:0.2152:0.2648:0.1118	.	8	O95918	OR2H2_HUMAN	L	8	ENSP00000373136:P8L	ENSP00000373136:P8L	P	+	2	0	OR2H2	29663723	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-7.499000	0.00035	-4.035000	0.00079	-1.815000	0.00603	CCG		0.522	OR2H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076057.2			6	509	0	0	0	1	0	6	509				
DMRT3	58524	broad.mit.edu	37	9	990482	990482	+	Missense_Mutation	SNP	C	C	T	rs373516356		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990482C>T	ENST00000190165.2	+	2	934	c.896C>T	c.(895-897)tCc>tTc	p.S299F		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	299					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		GAGCGAACTTCCGCAGAACCT	0.577																																						ENST00000190165.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(895-897)tCc>tTc		doublesex and mab-3 related transcription factor 3		G	PHE/SER	1,4405	2.1+/-5.4	0,1,2202	112.0	99.0	103.0		896	3.5	0.0	9		103	0,8600		0,0,4300	no	missense	DMRT3	NM_021240.2	155	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	299/473	990482	1,13005	2203	4300	6503	SO:0001583	missense	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990482C>T	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.896C>T	9.37:g.990482C>T	ENSP00000190165:p.Ser299Phe						p.S299F	NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	2	934	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	299					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	c.896C>T	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	c	2.822	-0.244583	0.05906	2.27E-4	0.0	ENSG00000064218	ENST00000190165	T	0.27104	1.69	4.45	3.55	0.40652	.	0.993291	0.08178	N	0.985908	T	0.20820	0.0501	N	0.19112	0.55	0.09310	N	1	B	0.33448	0.412	B	0.31614	0.133	T	0.31861	-0.9928	10	0.72032	D	0.01	-2.1377	14.5068	0.67758	0.0:0.8522:0.1478:0.0	.	299	Q9NQL9	DMRT3_HUMAN	F	299	ENSP00000190165:S299F	ENSP00000190165:S299F	S	+	2	0	DMRT3	980482	0.162000	0.22906	0.001000	0.08648	0.003000	0.03518	4.314000	0.59166	0.883000	0.36040	-0.371000	0.07208	TCC		0.577	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		25	350	0	0	0	1	0	25	350				
OR2L2	26246	broad.mit.edu	37	1	248201829	248201829	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:248201829G>A	ENST00000366479.2	+	1	356	c.260G>A	c.(259-261)gGa>gAa	p.G87E	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			tttctgtatggaaacaagtct	0.418																																						ENST00000366479.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42						c.(259-261)gGa>gAa		olfactory receptor, family 2, subfamily L, member 2							194.0	178.0	184.0					1																	248201829		2203	4300	6503	SO:0001583	missense	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248201829G>A	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.260G>A	1.37:g.248201829G>A	ENSP00000355435:p.Gly87Glu					OR2L13_ENST00000366478.2_Intron	p.G87E	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	356	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		87					Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	c.260G>A	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	9.017	0.983980	0.18889	.	.	ENSG00000203663	ENST00000366479	T	0.01516	4.81	1.9	0.883	0.19177	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31199	U	0.008075	T	0.01800	0.0057	L	0.43646	1.37	0.09310	N	1	B	0.25609	0.13	B	0.23852	0.049	T	0.42965	-0.9420	10	0.56958	D	0.05	.	5.8513	0.18694	0.3768:0.0:0.6232:0.0	.	87	Q8NH16	OR2L2_HUMAN	E	87	ENSP00000355435:G87E	ENSP00000355435:G87E	G	+	2	0	OR2L2	246268452	0.000000	0.05858	0.532000	0.27989	0.154000	0.21943	-0.213000	0.09305	0.897000	0.36392	0.194000	0.17425	GGA		0.418	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		81	897	0	0	0	1	0	81	897				
SPTLC3	55304	broad.mit.edu	37	20	13098235	13098235	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr20:13098235C>T	ENST00000399002.2	+	8	1289	c.1015C>T	c.(1015-1017)Cac>Tac	p.H339Y	SPTLC3_ENST00000378194.4_Intron	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	339					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						AGATGAAGCTCACAGTATTGG	0.507																																						ENST00000399002.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						c.(1015-1017)Cac>Tac		serine palmitoyltransferase, long chain base subunit 3	Pyridoxal Phosphate(DB00114)						115.0	116.0	116.0					20																	13098235		1859	4106	5965	SO:0001583	missense	55304				sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr20:13098235C>T	AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"""chromosome 20 open reading frame 38"", ""serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"""	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.1015C>T	20.37:g.13098235C>T	ENSP00000381968:p.His339Tyr					SPTLC3_ENST00000378194.4_Intron	p.H339Y	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN			8	1289	+			339					A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	ENST00000399002.2	37	c.1015C>T	CCDS13115.2	.	.	.	.	.	.	.	.	.	.	C	33	5.280596	0.95489	.	.	ENSG00000172296	ENST00000399002	D	0.82619	-1.63	5.86	5.86	0.93980	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.94988	0.8378	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95806	0.8837	10	0.87932	D	0	-22.4974	20.5632	0.99335	0.0:1.0:0.0:0.0	.	339	Q9NUV7	SPTC3_HUMAN	Y	339	ENSP00000381968:H339Y	ENSP00000381968:H339Y	H	+	1	0	SPTLC3	13046235	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.776000	0.85560	2.937000	0.99478	0.650000	0.86243	CAC		0.507	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	NM_018327		52	762	0	0	0	1	0	52	762				
OPN1LW	5956	broad.mit.edu	37	X	153416268	153416268	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chrX:153416268C>T	ENST00000369951.4	+	2	313	c.253C>T	c.(253-255)Cgc>Tgc	p.R85C	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	85					phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAAGAAGCTGCGCCACCCGCT	0.562																																						ENST00000369951.4																			0				endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15						c.(253-255)Cgc>Tgc		opsin 1 (cone pigments), long-wave-sensitive							56.0	53.0	54.0					X																	153416268		2180	4261	6441	SO:0001583	missense	5956				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chrX:153416268C>T	Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076		"""GPCR / Class A : Opsin receptors"""	9936	protein-coding gene	gene with protein product	"""cone dystrophy 5 (X-linked)"""	300822	"""color blindness, protan"", ""red cone photoreceptor pigment"""	CBBM, RCP, CBP			Standard	NM_020061		Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.253C>T	X.37:g.153416268C>T	ENSP00000358967:p.Arg85Cys					OPN1LW_ENST00000463296.1_3'UTR	p.R85C	NM_020061.4	NP_064445.1	P04000	OPSR_HUMAN			2	313	+	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		85						Missense_Mutation	SNP	ENST00000369951.4	37	c.253C>T	CCDS14742.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441885	0.63067	.	.	ENSG00000102076	ENST00000369951	T	0.46063	0.88	4.11	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.052609	0.85682	D	0.000000	T	0.75838	0.3904	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.85517	0.1201	10	0.87932	D	0	.	14.6616	0.68876	0.0:1.0:0.0:0.0	.	85	P04000	OPSR_HUMAN	C	85	ENSP00000358967:R85C	ENSP00000358967:R85C	R	+	1	0	OPN1LW	153069462	1.000000	0.71417	0.998000	0.56505	0.248000	0.25809	5.900000	0.69853	1.771000	0.52183	0.436000	0.28706	CGC		0.562	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082839.2	NM_020061		21	333	0	0	0	1	0	21	333				
SNRPB	6628	broad.mit.edu	37	20	2442419	2442419	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr20:2442419G>A	ENST00000438552.2	-	7	868	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C	SNORD119_ENST00000515997.1_RNA|SNRPB_ENST00000381342.2_3'UTR	NM_198216.1	NP_937859.1	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	236	Repeat-rich region.				gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						CTTGGTGGGCGCATTCCCGGG	0.547																																						ENST00000438552.2																			0				kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(706-708)Cgc>Tgc		small nuclear ribonucleoprotein polypeptides B and B1							48.0	51.0	50.0					20																	2442419		2203	4300	6503	SO:0001583	missense	6628				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding	g.chr20:2442419G>A		CCDS13026.1, CCDS13027.1	20p13	2011-10-11			ENSG00000125835	ENSG00000125835			11153	protein-coding gene	gene with protein product		182282		SNRPB1		1376292	Standard	NM_003091		Approved	COD, SmB/SmB', Sm-B/B', snRNP-B	uc002wfz.1	P14678	OTTHUMG00000031694	ENST00000438552.2:c.706C>T	20.37:g.2442419G>A	ENSP00000412566:p.Arg236Cys					SNRPB_ENST00000381342.2_3'UTR	p.R236C	NM_198216.1	NP_937859.1	P14678	RSMB_HUMAN			7	868	-			236			Repeat-rich region.		Q15490|Q6IB35|Q9UIS5	Missense_Mutation	SNP	ENST00000438552.2	37	c.706C>T	CCDS13026.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.066100	0.36470	.	.	ENSG00000125835	ENST00000438552;ENST00000303103	T	0.45668	0.89	4.7	3.74	0.42951	.	0.298090	0.36338	N	0.002646	T	0.12263	0.0298	N	0.01874	-0.695	0.80722	D	1	P	0.50710	0.938	B	0.22753	0.041	T	0.16512	-1.0400	10	0.87932	D	0	.	10.0794	0.42379	0.1001:0.0:0.8999:0.0	.	236	P14678	RSMB_HUMAN	C	236;284	ENSP00000412566:R236C	ENSP00000303591:R284C	R	-	1	0	SNRPB	2390419	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.037000	0.41174	1.315000	0.45114	0.561000	0.74099	CGC		0.547	SNRPB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077585.2			5	393	0	0	0	1	0	5	393				
EPS8	2059	broad.mit.edu	37	12	15818756	15818756	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:15818756C>T	ENST00000281172.5	-	8	1106	c.670G>A	c.(670-672)Gtc>Atc	p.V224I	EPS8_ENST00000543612.1_Missense_Mutation_p.V224I|EPS8_ENST00000543523.1_Missense_Mutation_p.V224I	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	224					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		ACCTGGGTGACGGTCCCAGGG	0.502																																						ENST00000281172.5																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(670-672)Gtc>Atc		epidermal growth factor receptor pathway substrate 8							48.0	50.0	49.0					12																	15818756		2203	4300	6503	SO:0001583	missense	0				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity	g.chr12:15818756C>T	U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.670G>A	12.37:g.15818756C>T	ENSP00000281172:p.Val224Ile					EPS8_ENST00000543612.1_Missense_Mutation_p.V224I|EPS8_ENST00000543523.1_Missense_Mutation_p.V224I	p.V224I	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)	8	1106	-		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)	224					A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	ENST00000281172.5	37	c.670G>A	CCDS31753.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.709691	0.30322	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000543223	T;T;T	0.06068	3.35;3.35;3.35	5.35	3.18	0.36537	.	0.312613	0.30311	N	0.009915	T	0.05181	0.0138	L	0.33485	1.01	0.31727	N	0.63755	B	0.09022	0.002	B	0.04013	0.001	T	0.17137	-1.0379	10	0.10377	T	0.69	-13.0094	12.5259	0.56085	0.0:0.7884:0.0:0.2116	.	224	Q12929	EPS8_HUMAN	I	224	ENSP00000441867:V224I;ENSP00000281172:V224I;ENSP00000442388:V224I	ENSP00000281172:V224I	V	-	1	0	EPS8	15710023	0.014000	0.17966	0.329000	0.25429	0.646000	0.38490	0.219000	0.17641	1.247000	0.43917	0.591000	0.81541	GTC		0.502	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1			6	397	0	0	0	1	0	6	397				
TPTE2P6	374491	broad.mit.edu	37	13	25168432	25168432	+	RNA	SNP	T	T	C	rs201252723	byFrequency	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr13:25168432T>C	ENST00000453498.1	+	0	1104				TPTE2P6_ENST00000440905.1_RNA																							TTGAAACAGCTGGTGTATTAA	0.373																																						ENST00000453498.1																			0																																																			0							g.chr13:25168432T>C																													13.37:g.25168432T>C														0	1104	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.373	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			3	91	0	0	0	1	0	3	91				
GABRB2	2561	broad.mit.edu	37	5	160886675	160886675	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr5:160886675C>T	ENST00000393959.1	-	4	412	c.413G>A	c.(412-414)cGc>cAc	p.R138H	GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000517901.1_Missense_Mutation_p.R75H|GABRB2_ENST00000520240.1_Missense_Mutation_p.R138H|GABRB2_ENST00000274547.2_Missense_Mutation_p.R138H|GABRB2_ENST00000353437.6_Missense_Mutation_p.R138H			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	138					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GCGAATCATGCGGTTCTTAAC	0.448																																						ENST00000274547.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(412-414)cGc>cAc		gamma-aminobutyric acid (GABA) A receptor, beta 2	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						104.0	95.0	98.0					5																	160886675		2203	4300	6503	SO:0001583	missense	0				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160886675C>T		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.413G>A	5.37:g.160886675C>T	ENSP00000377531:p.Arg138His					GABRB2_ENST00000520240.1_Missense_Mutation_p.R138H|GABRB2_ENST00000393959.1_Missense_Mutation_p.R138H|GABRB2_ENST00000353437.6_Missense_Mutation_p.R138H|GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000517901.1_Missense_Mutation_p.R75H	p.R138H	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		5	630	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	138					A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	c.413G>A	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	C	34	5.364320	0.95877	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901	T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26	4.97	4.97	0.65823	Neurotransmitter-gated ion-channel ligand-binding (3);	0.102623	0.64402	D	0.000008	D	0.86875	0.6038	M	0.62209	1.925	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.80764	0.994;0.973;0.977;0.979	D	0.88229	0.2902	10	0.87932	D	0	.	18.6117	0.91288	0.0:1.0:0.0:0.0	.	138;75;138;138	B7Z4P0;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	H	138;138;138;138;75	ENSP00000377531:R138H;ENSP00000274547:R138H;ENSP00000274546:R138H;ENSP00000429320:R138H;ENSP00000430532:R75H	ENSP00000274547:R138H	R	-	2	0	GABRB2	160819253	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.650000	0.83521	2.455000	0.83008	0.655000	0.94253	CGC		0.448	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			4	153	0	0	0	1	0	4	153				
HOXA7	3204	broad.mit.edu	37	7	27196029	27196029	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr7:27196029C>T	ENST00000242159.3	-	1	269	c.136G>A	c.(136-138)Gcc>Acc	p.A46T	HOXA7_ENST00000523796.2_5'Flank|RP1-170O19.21_ENST00000602610.1_lincRNA|HOXA-AS3_ENST00000518947.2_RNA	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	46					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.A46P(2)		endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						GAGGCGAAGGCGCCGGCGCCC	0.622																																						ENST00000242159.3																			2	Substitution - Missense(2)	p.A46P(2)	lung(2)	endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						c.(136-138)Gcc>Acc		homeobox A7							36.0	49.0	44.0					7																	27196029		2195	4297	6492	SO:0001583	missense	3204				angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding	g.chr7:27196029C>T		CCDS5408.1	7p15.2	2011-06-20	2005-12-22		ENSG00000122592	ENSG00000122592		"""Homeoboxes / ANTP class : HOXL subclass"""	5108	protein-coding gene	gene with protein product		142950	"""homeo box A7"""	HOX1A, HOX1		1973146, 1358459	Standard	NM_006896		Approved		uc003sys.3	P31268	OTTHUMG00000023217	ENST00000242159.3:c.136G>A	7.37:g.27196029C>T	ENSP00000242159:p.Ala46Thr						p.A46T	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN			1	269	-			46					A4D191|O43368|O43486|O95655|Q9NSC8|Q9UDM1	Missense_Mutation	SNP	ENST00000242159.3	37	c.136G>A	CCDS5408.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.535342	0.45176	.	.	ENSG00000122592	ENST00000242159	T	0.32272	1.46	5.32	4.45	0.53987	.	0.191100	0.45867	D	0.000333	T	0.23410	0.0566	L	0.58810	1.83	0.46478	D	0.999069	P	0.40834	0.73	B	0.23150	0.044	T	0.10019	-1.0648	10	0.66056	D	0.02	.	10.1261	0.42649	0.0:0.7917:0.136:0.0722	.	46	P31268	HXA7_HUMAN	T	46	ENSP00000242159:A46T	ENSP00000242159:A46T	A	-	1	0	HOXA7	27162554	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	2.973000	0.49264	1.400000	0.46741	-0.215000	0.12644	GCC		0.622	HOXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358695.1			120	434	0	0	0	1	0	120	434				
C16orf46	123775	broad.mit.edu	37	16	81095234	81095234	+	Silent	SNP	C	C	G			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr16:81095234C>G	ENST00000299578.5	-	4	955	c.720G>C	c.(718-720)gtG>gtC	p.V240V	C16orf46_ENST00000444657.3_5'Flank|RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000378611.4_Silent_p.V240V	NM_152337.2	NP_689550.2	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	240						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						CCACATCCAGCACCTTCTCTT	0.473																																						ENST00000378611.4																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.(718-720)gtG>gtC		chromosome 16 open reading frame 46							152.0	143.0	146.0					16																	81095234		2202	4300	6502	SO:0001819	synonymous_variant	123775							g.chr16:81095234C>G	BC064143	CCDS10932.1, CCDS42201.1	16q23.2	2012-10-09			ENSG00000166455	ENSG00000166455			26525	protein-coding gene	gene with protein product							Standard	NM_152337		Approved	FLJ32702	uc002fgc.4	Q6P387	OTTHUMG00000137629	ENST00000299578.5:c.720G>C	16.37:g.81095234C>G						C16orf46_ENST00000299578.5_Silent_p.V240V|RP11-303E16.8_ENST00000564536.1_RNA	p.V240V	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN			3	835	-			240					Q96MA7	Silent	SNP	ENST00000299578.5	37	c.720G>C	CCDS10932.1																																																																																				0.473	C16orf46-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269054.2	NM_152337		68	809	0	0	0	1	0	68	809				
PFKFB4	5210	broad.mit.edu	37	3	48587623	48587623	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:48587623G>A	ENST00000232375.3	-	2	254	c.142C>T	c.(142-144)Ccc>Tcc	p.P48S	PFKFB4_ENST00000416568.1_Missense_Mutation_p.P48S|PFKFB4_ENST00000541519.1_Missense_Mutation_p.P14S|PFKFB4_ENST00000536104.1_Missense_Mutation_p.P37S|PFKFB4_ENST00000545984.1_Missense_Mutation_p.P48S|PFKFB4_ENST00000383734.2_Missense_Mutation_p.P48S|PFKFB4_ENST00000490115.1_5'UTR	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	48	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		CCCCTGGCGGGCAGGCCCACC	0.597																																						ENST00000232375.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(142-144)Ccc>Tcc		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4							125.0	97.0	107.0					3																	48587623		2203	4300	6503	SO:0001583	missense	5210				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	g.chr3:48587623G>A	BC010269	CCDS2771.1	3p22-p21	2004-03-02			ENSG00000114268	ENSG00000114268			8875	protein-coding gene	gene with protein product		605320				8830046, 10095107	Standard	NM_004567		Approved		uc003ctv.3	Q16877	OTTHUMG00000133528	ENST00000232375.3:c.142C>T	3.37:g.48587623G>A	ENSP00000232375:p.Pro48Ser					PFKFB4_ENST00000541519.1_Missense_Mutation_p.P14S|PFKFB4_ENST00000536104.1_Missense_Mutation_p.P37S|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000383734.2_Missense_Mutation_p.P48S|PFKFB4_ENST00000545984.1_Missense_Mutation_p.P48S|PFKFB4_ENST00000416568.1_Missense_Mutation_p.P48S	p.P48S	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	2	254	-			48			6-phosphofructo-2-kinase.		Q5S3G5|Q5XLC2|Q64EX5	Missense_Mutation	SNP	ENST00000232375.3	37	c.142C>T	CCDS2771.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878733	0.91740	.	.	ENSG00000114268	ENST00000232375;ENST00000536104;ENST00000416568;ENST00000383734;ENST00000541519;ENST00000545984;ENST00000452531;ENST00000412035;ENST00000422701	.	.	.	4.74	4.74	0.60224	6-phosphofructo-2-kinase (1);	0.056562	0.64402	D	0.000001	D	0.91019	0.7175	H	0.99525	4.61	0.80722	D	1	D;P;D;D	0.76494	0.999;0.942;0.992;0.999	D;P;P;D	0.85130	0.997;0.575;0.793;0.991	D	0.94606	0.7800	9	0.87932	D	0	-26.2505	15.262	0.73631	0.0:0.0:1.0:0.0	.	37;48;48;48	B7Z5C3;Q5XLC2;Q66S35;Q16877	.;.;.;F264_HUMAN	S	48;37;48;48;14;48;37;14;51	.	ENSP00000232375:P48S	P	-	1	0	PFKFB4	48562627	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.530000	0.98051	2.462000	0.83206	0.655000	0.94253	CCC		0.597	PFKFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257503.2	NM_004567		5	276	0	0	0	1	0	5	276				
GPR133	283383	broad.mit.edu	37	12	131621519	131621519	+	Splice_Site	SNP	G	G	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:131621519G>T	ENST00000261654.5	+	23	2955	c.2396G>T	c.(2395-2397)gGa>gTa	p.G799V	GPR133_ENST00000535015.1_Splice_Site_p.G831V|GPR133_ENST00000543617.1_Splice_Site_p.G318V|GPR133_ENST00000376682.4_Splice_Site_p.G485V|GPR133_ENST00000540207.1_3'UTR	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	799					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCTTCCCAGGGACTGTTCATA	0.532																																						ENST00000261654.5																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.e23-1		G protein-coupled receptor 133							270.0	217.0	235.0					12																	131621519		2203	4300	6503	SO:0001630	splice_region_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131621519G>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.2395-1G>T	12.37:g.131621519G>T						GPR133_ENST00000376682.4_Splice_Site_p.G485_splice|GPR133_ENST00000543617.1_Splice_Site_p.G318_splice|GPR133_ENST00000535015.1_Splice_Site_p.G831_splice|GPR133_ENST00000540207.1_3'UTR	p.G799_splice	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	23	2955	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		799					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Splice_Site	SNP	ENST00000261654.5	37	c.2394_splice	CCDS9272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.01|18.01	3.528189|3.528189	0.64860|0.64860	.|.	.|.	ENSG00000111452|ENSG00000111452	ENST00000335486|ENST00000261654;ENST00000535015;ENST00000376682;ENST00000543617	.|D;D;D;D	.|0.84660	.|-1.88;-1.88;-1.88;-1.88	4.23|4.23	4.23|4.23	0.50019|0.50019	.|GPCR, family 2-like (1);GPCR, family 2, secretin-like, conserved site (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.93471|0.93471	0.7917|0.7917	M|M	0.91249|0.91249	3.19|3.19	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;1.0;0.999	.|D;D;D	.|0.97110	.|0.999;1.0;0.999	D|D	0.94887|0.94887	0.8044|0.8044	5|10	.|0.87932	.|D	.|0	.|.	14.4411|14.4411	0.67318|0.67318	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|831;152;799	.|B7ZLF7;Q9NSM3;Q6QNK2	.|.;.;GP133_HUMAN	Y|V	153|799;831;485;318	.|ENSP00000261654:G799V;ENSP00000444425:G831V;ENSP00000365872:G485V;ENSP00000438021:G318V	.|ENSP00000261654:G799V	D|G	+|+	1|2	0|0	GPR133|GPR133	130187472|130187472	1.000000|1.000000	0.71417|0.71417	0.919000|0.919000	0.36401|0.36401	0.852000|0.852000	0.48524|0.48524	5.786000|5.786000	0.69006|0.69006	2.069000|2.069000	0.61940|0.61940	0.561000|0.561000	0.74099|0.74099	GAC|GGA		0.532	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827	Missense_Mutation	13	274	1	0	7.07758e-08	1	7.35513e-08	13	274				
PCIF1	63935	broad.mit.edu	37	20	44574946	44574946	+	Silent	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr20:44574946C>T	ENST00000372409.3	+	14	1900	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	512					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						TCGAGTGCTTCGCCTCACCCC	0.642																																						ENST00000372409.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						c.(1534-1536)ttC>ttT		PDX1 C-terminal inhibiting factor 1							127.0	117.0	120.0					20																	44574946		2203	4300	6503	SO:0001819	synonymous_variant	63935					nucleus		g.chr20:44574946C>T	AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 121"""		"""chromosome 20 open reading frame 67"""	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.1536C>T	20.37:g.44574946C>T						PCIF1_ENST00000479348.1_3'UTR	p.F512F	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN			14	1900	+			512					E1P5P1|Q54AB9|Q9NT85	Silent	SNP	ENST00000372409.3	37	c.1536C>T	CCDS13388.1																																																																																				0.642	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079550.1	NM_022104		48	670	0	0	0	1	0	48	670				
POLR3B	55703	broad.mit.edu	37	12	106820987	106820987	+	Missense_Mutation	SNP	C	C	T	rs568917673		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:106820987C>T	ENST00000228347.4	+	13	1336	c.1114C>T	c.(1114-1116)Ctt>Ttt	p.L372F	POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	372					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.L372F(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTATCTCTTCTTTTTGAAGA	0.274																																						ENST00000228347.4																			2	Substitution - Missense(2)	p.L372F(2)	urinary_tract(1)|prostate(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.(1114-1116)Ctt>Ttt		polymerase (RNA) III (DNA directed) polypeptide B																																				SO:0001583	missense	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106820987C>T	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1114C>T	12.37:g.106820987C>T	ENSP00000228347:p.Leu372Phe					POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F	p.L372F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			13	1336	+			372					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.1114C>T	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105377	0.77096	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066;ENST00000549569;ENST00000549195	T;T;T	0.79554	-0.26;-0.26;-1.28	5.62	4.73	0.59995	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.90157	0.6924	H	0.96142	3.775	0.80722	D	1	B	0.33964	0.434	P	0.47134	0.539	D	0.91279	0.5050	10	0.87932	D	0	-18.4128	11.6653	0.51370	0.0:0.8574:0.0:0.1426	.	372	Q9NW08	RPC2_HUMAN	F	372;372;314;130;35	ENSP00000228347:L372F;ENSP00000445721:L314F;ENSP00000448398:L130F	ENSP00000228347:L372F	L	+	1	0	POLR3B	105345117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.535000	0.53575	1.506000	0.48736	0.557000	0.71058	CTT		0.274	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		14	80	0	0	0	1	0	14	80				
ARMC5	79798	broad.mit.edu	37	16	31474214	31474214	+	Missense_Mutation	SNP	A	A	G			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr16:31474214A>G	ENST00000563544.1	+	4	1892	c.1346A>G	c.(1345-1347)cAg>cGg	p.Q449R	ARMC5_ENST00000268314.4_Missense_Mutation_p.Q449R|ARMC5_ENST00000408912.3_Missense_Mutation_p.Q544R|ARMC5_ENST00000457010.2_Missense_Mutation_p.Q449R|ARMC5_ENST00000538189.1_Missense_Mutation_p.Q481R|ARMC5_ENST00000412665.2_Missense_Mutation_p.Q93R			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	449										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GAGCGGGCACAGGGTGGAAGC	0.607																																						ENST00000457010.2																			0				central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1345-1347)cAg>cGg		armadillo repeat containing 5							9.0	11.0	10.0					16																	31474214		2038	4185	6223	SO:0001583	missense	79798						binding	g.chr16:31474214A>G	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.1346A>G	16.37:g.31474214A>G	ENSP00000456877:p.Gln449Arg					ARMC5_ENST00000538189.1_Missense_Mutation_p.Q481R|ARMC5_ENST00000412665.2_Missense_Mutation_p.Q93R|ARMC5_ENST00000408912.3_Missense_Mutation_p.Q544R|ARMC5_ENST00000268314.4_Missense_Mutation_p.Q449R|ARMC5_ENST00000563544.1_Missense_Mutation_p.Q449R	p.Q449R	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN			3	2047	+			449					Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	37	c.1346A>G	CCDS45472.1	.	.	.	.	.	.	.	.	.	.	a	7.014	0.557317	0.13436	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000457010;ENST00000412665	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	4.84	4.84	0.62591	.	0.225551	0.44688	D	0.000438	T	0.11623	0.0283	N	0.14661	0.345	0.20403	N	0.999907	B;B;B;B;P	0.38370	0.016;0.016;0.039;0.016;0.628	B;B;B;B;B	0.36922	0.015;0.015;0.015;0.015;0.236	T	0.13629	-1.0502	10	0.44086	T	0.13	.	7.2303	0.26038	0.8992:0.0:0.1008:0.0	.	481;481;544;449;449	B4DH27;F5H156;B4DIU9;Q96C12;Q96C12-4	.;.;.;ARMC5_HUMAN;.	R	544;481;449;449;93	ENSP00000386125:Q544R;ENSP00000443995:Q481R;ENSP00000268314:Q449R;ENSP00000399561:Q449R;ENSP00000400183:Q93R	ENSP00000268314:Q449R	Q	+	2	0	ARMC5	31381715	0.996000	0.38824	0.431000	0.26735	0.580000	0.36256	1.039000	0.30266	1.806000	0.52798	0.375000	0.23000	CAG		0.607	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		3	101	0	0	0	1	0	3	101				
ITGA11	22801	broad.mit.edu	37	15	68612671	68612671	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr15:68612671G>A	ENST00000315757.7	-	20	2554	c.2468C>T	c.(2467-2469)tCc>tTc	p.S823F	ITGA11_ENST00000423218.2_Missense_Mutation_p.S823F	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	823					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						GGTGTCGAAGGACAGCGTGTA	0.592																																						ENST00000423218.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						c.(2467-2469)tCc>tTc		integrin, alpha 11	Tirofiban(DB00775)						51.0	51.0	51.0					15																	68612671		2118	4242	6360	SO:0001583	missense	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68612671G>A	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.2468C>T	15.37:g.68612671G>A	ENSP00000327290:p.Ser823Phe					ITGA11_ENST00000315757.7_Missense_Mutation_p.S823F	p.S823F			Q9UKX5	ITA11_HUMAN			20	2563	-			823					J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	ENST00000315757.7	37	c.2468C>T	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.740924	0.69304	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000535491	T;T	0.60797	0.16;0.16	5.62	5.62	0.85841	Integrin alpha-2 (1);	0.299113	0.38436	N	0.001682	T	0.68485	0.3006	L	0.44542	1.39	0.54753	D	0.999986	D;D	0.67145	0.98;0.996	P;D	0.63381	0.883;0.914	T	0.66921	-0.5801	10	0.45353	T	0.12	.	18.6297	0.91355	0.0:0.0:1.0:0.0	.	823;823	A8K8T0;Q9UKX5	.;ITA11_HUMAN	F	823;823;458	ENSP00000327290:S823F;ENSP00000403392:S823F	ENSP00000327290:S823F	S	-	2	0	ITGA11	66399725	1.000000	0.71417	0.999000	0.59377	0.433000	0.31745	4.806000	0.62569	2.651000	0.90000	0.561000	0.74099	TCC		0.592	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		11	88	0	0	0	1	0	11	88				
SELP	6403	broad.mit.edu	37	1	169586589	169586589	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:169586589C>T	ENST00000263686.6	-	3	195	c.158G>A	c.(157-159)tGg>tAg	p.W53*	SELP_ENST00000367786.2_Nonsense_Mutation_p.W53*|SELP_ENST00000458599.2_Nonsense_Mutation_p.W53*|SELP_ENST00000367793.2_Nonsense_Mutation_p.W53*|SELP_ENST00000367792.2_Nonsense_Mutation_p.W53*|SELP_ENST00000367794.2_Nonsense_Mutation_p.W53*|SELP_ENST00000367788.2_Nonsense_Mutation_p.W53*|SELP_ENST00000367791.2_Nonsense_Mutation_p.W53*	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	53					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	GGAAATATTCCATGAGTATGC	0.413																																						ENST00000263686.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(157-159)tGg>tAg		selectin P (granule membrane protein 140kDa, antigen CD62)	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						133.0	117.0	123.0					1																	169586589		2203	4299	6502	SO:0001587	stop_gained	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169586589C>T	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.158G>A	1.37:g.169586589C>T	ENSP00000263686:p.Trp53*					SELP_ENST00000367788.2_Nonsense_Mutation_p.W53*|SELP_ENST00000367794.2_Nonsense_Mutation_p.W53*|SELP_ENST00000367791.2_Nonsense_Mutation_p.W53*|SELP_ENST00000367792.2_Nonsense_Mutation_p.W53*|SELP_ENST00000458599.2_Nonsense_Mutation_p.W53*|SELP_ENST00000367786.2_Nonsense_Mutation_p.W53*|SELP_ENST00000367793.2_Nonsense_Mutation_p.W53*	p.W53*	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN			3	195	-	all_hematologic(923;0.208)		53					Q5R344|Q8IVD1	Nonsense_Mutation	SNP	ENST00000263686.6	37	c.158G>A	CCDS1282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.5|29.5	5.009615|5.009615	0.93346|0.93346	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000446728|ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599	.|.	.|.	.|.	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	.|0.000000	.|0.48286	.|D	.|0.000187	T|.	0.29882|.	0.0747|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.20773|.	-1.0265|.	3|.	.|0.02654	.|T	.|1	-17.8413|-17.8413	17.7661|17.7661	0.88478|0.88478	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	I|X	52|53;53;52;53;53;53;53;53;53;53;53;53;38	.|.	.|ENSP00000263686:W53X	M|W	-|-	3|2	0|0	SELP|SELP	167853213|167853213	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.353000|0.353000	0.29299|0.29299	5.616000|5.616000	0.67709|0.67709	2.793000|2.793000	0.96121|0.96121	0.563000|0.563000	0.77884|0.77884	ATG|TGG		0.413	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		48	615	0	0	0	1	0	48	615				
GALNS	2588	broad.mit.edu	37	16	88908313	88908313	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr16:88908313G>A	ENST00000268695.5	-	3	399	c.311C>T	c.(310-312)gCc>gTc	p.A104V	GALNS_ENST00000542788.1_Intron|GALNS_ENST00000565364.1_5'UTR	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	104	Catalytic domain.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		ACCGTTTCTGGCATGGGCGTT	0.632																																					GBM(129;1929 2344 25209 33204)	ENST00000268695.5																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22						c.(310-312)gCc>gTc		galactosamine (N-acetyl)-6-sulfate sulfatase	Hyaluronidase(DB00070)						139.0	95.0	110.0					16																	88908313		2195	4299	6494	SO:0001583	missense	2588					lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity	g.chr16:88908313G>A	D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"""Arylsulfatase family"""	4122	protein-coding gene	gene with protein product	"""Morquio syndrome"", ""mucopolysaccharidosis type IVA"""	612222	"""galactosamine (N-acetyl)-6-sulfate sulfatase"""			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.311C>T	16.37:g.88908313G>A	ENSP00000268695:p.Ala104Val					GALNS_ENST00000542788.1_Intron|GALNS_ENST00000565364.1_5'UTR	p.A104V	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0496)	3	399	-			104					Q86VK3	Missense_Mutation	SNP	ENST00000268695.5	37	c.311C>T	CCDS10970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.46|15.46	2.840298|2.840298	0.51057|0.51057	.|.	.|.	ENSG00000141012|ENSG00000141012	ENST00000268695|ENST00000439266	D|.	0.98617|.	-5.03|.	5.24|5.24	5.24|5.24	0.73138|0.73138	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.63153|0.63153	0.2487|0.2487	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.986;0.998|.	P;D|.	0.67382|.	0.742;0.951|.	T|T	0.66268|0.66268	-0.5966|-0.5966	10|6	0.35671|0.87932	T|D	0.21|0	.|.	19.199|19.199	0.93701|0.93701	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	104;104|.	B2R6P1;P34059|.	.;GALNS_HUMAN|.	V|S	104|63	ENSP00000268695:A104V|.	ENSP00000268695:A104V|ENSP00000402127:P63S	A|P	-|-	2|1	0|0	GALNS|GALNS	87435814|87435814	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.657000|0.657000	0.38888|0.38888	9.556000|9.556000	0.98127|0.98127	2.620000|2.620000	0.88729|0.88729	0.561000|0.561000	0.74099|0.74099	GCC|CCA		0.632	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1			3	89	0	0	0	1	0	3	89				
PYHIN1	149628	broad.mit.edu	37	1	158908939	158908939	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:158908939C>T	ENST00000368140.1	+	4	726	c.481C>T	c.(481-483)Cct>Tct	p.P161S	PYHIN1_ENST00000392252.3_Missense_Mutation_p.P152S|PYHIN1_ENST00000392254.2_Missense_Mutation_p.P161S|PYHIN1_ENST00000368135.4_Missense_Mutation_p.P161S|PYHIN1_ENST00000368138.3_Missense_Mutation_p.P152S	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	161					cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GCAGACTCGGCCTTCCTGCTC	0.483																																						ENST00000368140.1																			0				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(481-483)Cct>Tct		pyrin and HIN domain family, member 1							112.0	102.0	105.0					1																	158908939		2203	4300	6503	SO:0001583	missense	149628				cell cycle	nuclear speck		g.chr1:158908939C>T	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.481C>T	1.37:g.158908939C>T	ENSP00000357122:p.Pro161Ser					PYHIN1_ENST00000392252.3_Missense_Mutation_p.P152S|PYHIN1_ENST00000368135.4_Missense_Mutation_p.P161S|PYHIN1_ENST00000368138.3_Missense_Mutation_p.P152S|PYHIN1_ENST00000392254.2_Missense_Mutation_p.P161S	p.P161S	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN			4	726	+	all_hematologic(112;0.0378)		161					Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	c.481C>T	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	C	8.848	0.943813	0.18281	.	.	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252;ENST00000368135	T;T;T;T;T	0.28069	3.52;3.53;3.54;3.55;1.63	2.15	-2.19	0.07015	.	.	.	.	.	T	0.28499	0.0705	L	0.61387	1.9	0.09310	N	1	P;P;P;P;D	0.67145	0.909;0.909;0.909;0.853;0.996	P;P;P;B;D	0.78314	0.481;0.481;0.481;0.288;0.991	T	0.09952	-1.0651	8	.	.	.	.	6.3202	0.21213	0.0:0.3823:0.0:0.6177	.	152;161;152;161;161	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9;Q6K0P9-5	.;.;.;IFIX_HUMAN;.	S	161;152;161;152;161	ENSP00000357122:P161S;ENSP00000357120:P152S;ENSP00000376083:P161S;ENSP00000376082:P152S;ENSP00000357117:P161S	.	P	+	1	0	PYHIN1	157175563	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.463000	0.06696	-0.637000	0.05516	-0.262000	0.10625	CCT		0.483	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		45	273	0	0	0	1	0	45	273				
SACS	26278	broad.mit.edu	37	13	23910739	23910739	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr13:23910739G>A	ENST00000382292.3	-	9	7549	c.7276C>T	c.(7276-7278)Cga>Tga	p.R2426*	SACS_ENST00000382298.3_Nonsense_Mutation_p.R2426*|SACS_ENST00000402364.1_Nonsense_Mutation_p.R1676*			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2426					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTGATTATTCGTCGGCAAAGC	0.333																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(7276-7278)Cga>Tga		spastic ataxia of Charlevoix-Saguenay (sacsin)							54.0	56.0	55.0					13																	23910739		2203	4299	6502	SO:0001587	stop_gained	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23910739G>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.7276C>T	13.37:g.23910739G>A	ENSP00000371729:p.Arg2426*					SACS_ENST00000402364.1_Nonsense_Mutation_p.R1676*|SACS_ENST00000382292.3_Nonsense_Mutation_p.R2426*	p.R2426*	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	7864	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	2426					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Nonsense_Mutation	SNP	ENST00000382292.3	37	c.7276C>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	55	24.486824	0.99960	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	.	.	.	5.6	3.71	0.42584	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0493	0.64725	0.0:0.0:0.3574:0.6425	.	.	.	.	X	2426;1676;2426	.	ENSP00000371729:R2426X	R	-	1	2	SACS	22808739	1.000000	0.71417	1.000000	0.80357	0.169000	0.22640	3.735000	0.55044	0.560000	0.29169	0.561000	0.74099	CGA		0.333	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		51	183	0	0	0	1	0	51	183				
SH3TC1	54436	broad.mit.edu	37	4	8214499	8214499	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr4:8214499C>T	ENST00000245105.3	+	4	386	c.319C>T	c.(319-321)Cgg>Tgg	p.R107W	SH3TC1_ENST00000539824.1_Missense_Mutation_p.R31W	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	107										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GCAGACCCTCCGGGGCCAGCT	0.677																																					NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(91-93)Cgg>Tgg		SH3 domain and tetratricopeptide repeats 1							20.0	25.0	23.0					4																	8214499		2201	4298	6499	SO:0001583	missense	54436						binding	g.chr4:8214499C>T	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.319C>T	4.37:g.8214499C>T	ENSP00000245105:p.Arg107Trp					SH3TC1_ENST00000245105.3_Missense_Mutation_p.R107W	p.R31W			Q8TE82	S3TC1_HUMAN			4	465	+			107					Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	c.91C>T	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.012619	0.35511	.	.	ENSG00000125089	ENST00000509119;ENST00000245105;ENST00000539824	D;D	0.87650	-2.28;-2.18	3.4	0.0176	0.14113	.	0.086238	0.41097	D	0.000942	D	0.90133	0.6917	L	0.60455	1.87	0.09310	N	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.82965	-0.0195	10	0.87932	D	0	-24.2913	10.6304	0.45532	0.7165:0.2835:0.0:0.0	.	107	Q8TE82	S3TC1_HUMAN	W	31;107;31	ENSP00000245105:R107W;ENSP00000441045:R31W	ENSP00000245105:R107W	R	+	1	2	SH3TC1	8265399	0.987000	0.35691	0.024000	0.17045	0.245000	0.25701	0.936000	0.28938	0.139000	0.18822	0.462000	0.41574	CGG		0.677	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		14	121	0	0	0	1	0	14	121				
PARVB	29780	broad.mit.edu	37	22	44559756	44559756	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr22:44559756G>A	ENST00000338758.7	+	12	1027	c.964G>A	c.(964-966)Gcc>Acc	p.A322T	PARVB_ENST00000406477.3_Missense_Mutation_p.A355T|PARVB_ENST00000404989.1_Missense_Mutation_p.A285T	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	322	CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)		p.A355T(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				TGTGTCCTTCGCCTTTGAGCT	0.627																																						ENST00000338758.6																			1	Substitution - Missense(1)	p.A355T(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25						c.(964-966)Gcc>Acc		parvin, beta							130.0	94.0	107.0					22																	44559756		2203	4300	6503	SO:0001583	missense	29780				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding	g.chr22:44559756G>A	AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"""Parvins"""	14653	protein-coding gene	gene with protein product	"""affixin"""	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000338758.7:c.964G>A	22.37:g.44559756G>A	ENSP00000342492:p.Ala322Thr					PARVB_ENST00000404989.1_Missense_Mutation_p.A285T|PARVB_ENST00000406477.3_Missense_Mutation_p.A355T	p.A322T	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN			12	1027	+		Ovarian(80;0.0246)|all_neural(38;0.0423)	322			CH 2.		B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	Missense_Mutation	SNP	ENST00000338758.7	37	c.964G>A	CCDS14056.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176810	0.78564	.	.	ENSG00000188677	ENST00000406477;ENST00000338758;ENST00000404989	T;T;T	0.71579	-0.58;-0.58;-0.58	5.42	4.41	0.53225	Calponin homology domain (5);	0.050704	0.85682	D	0.000000	D	0.84325	0.5447	M	0.91090	3.175	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	P;D;D;D	0.71870	0.899;0.959;0.975;0.971	D	0.85234	0.1034	10	0.87932	D	0	-0.2485	6.9974	0.24791	0.0882:0.0:0.7402:0.1716	.	322;285;322;355	A6NG58;B0QYM8;Q9HBI1;Q9HBI1-2	.;.;PARVB_HUMAN;.	T	355;322;285	ENSP00000384515:A355T;ENSP00000342492:A322T;ENSP00000384353:A285T	ENSP00000342492:A322T	A	+	1	0	PARVB	42891089	1.000000	0.71417	0.892000	0.35008	0.965000	0.64279	3.890000	0.56220	1.290000	0.44636	0.491000	0.48974	GCC		0.627	PARVB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319518.2	NM_001003828		30	321	0	0	0	1	0	30	321				
CR1	1378	broad.mit.edu	37	1	207787753	207787753	+	Nonsense_Mutation	SNP	C	C	T	rs55749440		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:207787753C>T	ENST00000367049.4	+	40	6580	c.6580C>T	c.(6580-6582)Cga>Tga	p.R2194*	CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1744					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.R1749*(9)|p.R2194*(9)|p.R1744*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTTAGGTTCCGATTAAAAGG	0.423																																						ENST00000367049.4																			19	Substitution - Nonsense(19)	p.R1749*(9)|p.R2194*(9)|p.R1744*(1)	lung(6)|endometrium(6)|prostate(3)|kidney(2)|central_nervous_system(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(6580-6582)Cga>Tga		complement component (3b/4b) receptor 1 (Knops blood group)							103.0	94.0	97.0					1																	207787753		1868	4107	5975	SO:0001587	stop_gained	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207787753C>T	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6580C>T	1.37:g.207787753C>T	ENSP00000356016:p.Arg2194*					CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*	p.R2194*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			40	6580	+			1744					Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Nonsense_Mutation	SNP	ENST00000367049.4	37	c.6580C>T	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	C	44	11.182593	0.99528	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	.	.	.	4.29	2.39	0.29439	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5152	0.27596	0.0:0.7891:0.0:0.2109	rs55749440	.	.	.	X	1744;1744;1744;1744;2194	.	ENSP00000356016:R2194X	R	+	1	2	CR1	205854376	0.129000	0.22400	0.370000	0.25965	0.352000	0.29268	0.213000	0.17521	0.518000	0.28383	0.436000	0.28706	CGA		0.423	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		4	184	0	0	0	1	0	4	184				
GGA2	23062	broad.mit.edu	37	16	23480293	23480293	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr16:23480293C>T	ENST00000309859.4	-	16	1727	c.1645G>A	c.(1645-1647)Gca>Aca	p.A549T	GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	549	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		GAGCTGGATGCCGGCTGCAGC	0.493																																						ENST00000309859.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21						c.(1645-1647)Gca>Aca		golgi-associated, gamma adaptin ear containing, ARF binding protein 2							87.0	81.0	83.0					16																	23480293		2197	4300	6497	SO:0001583	missense	23062				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	g.chr16:23480293C>T	AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.1645G>A	16.37:g.23480293C>T	ENSP00000311962:p.Ala549Thr					GGA2_ENST00000567468.1_Intron	p.A549T	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN		GBM - Glioblastoma multiforme(48;0.0386)	16	1727	-			549			GAE.		D3DWF0|O14564|Q9NYN2|Q9UPS2	Missense_Mutation	SNP	ENST00000309859.4	37	c.1645G>A	CCDS10611.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488740	0.84962	.	.	ENSG00000103365	ENST00000309859	T	0.32515	1.45	5.73	5.73	0.89815	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, gamma-adaptin, appendage (2);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);	0.059618	0.64402	D	0.000003	T	0.54046	0.1834	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.50701	-0.8797	10	0.44086	T	0.13	-18.3214	14.1168	0.65159	0.0:0.8496:0.1504:0.0	.	549	Q9UJY4	GGA2_HUMAN	T	549	ENSP00000311962:A549T	ENSP00000311962:A549T	A	-	1	0	GGA2	23387794	0.980000	0.34600	0.697000	0.30258	0.984000	0.73092	1.977000	0.40589	2.704000	0.92352	0.650000	0.86243	GCA		0.493	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1			5	273	0	0	0	1	0	5	273				
TNKS1BP1	85456	broad.mit.edu	37	11	57088170	57088170	+	Missense_Mutation	SNP	T	T	G			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr11:57088170T>G	ENST00000532437.1	-	2	422	c.111A>C	c.(109-111)aaA>aaC	p.K37N	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.K37N			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	37	Arg/Glu/Lys/Pro-rich (charged).				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TGACAGGGGGTTTGGCCCGAG	0.622																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(109-111)aaA>aaC		tankyrase 1 binding protein 1, 182kDa							15.0	18.0	17.0					11																	57088170		2185	4277	6462	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57088170T>G	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.111A>C	11.37:g.57088170T>G	ENSP00000437271:p.Lys37Asn					TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.K37N	p.K37N			Q9C0C2	TB182_HUMAN			2	422	-		all_epithelial(135;0.21)	37			Arg/Glu/Lys/Pro-rich (charged).		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.111A>C	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	T	17.30	3.353826	0.61293	.	.	ENSG00000149115	ENST00000358252;ENST00000532437;ENST00000527207	T;T	0.57907	0.37;0.37	4.58	0.88	0.19161	.	0.339353	0.21314	N	0.076592	T	0.52484	0.1737	N	0.24115	0.695	0.27584	N	0.949509	D	0.89917	1.0	D	0.87578	0.998	T	0.44937	-0.9295	10	0.45353	T	0.12	-10.6797	7.6681	0.28443	0.0:0.436:0.0:0.564	.	37	Q9C0C2	TB182_HUMAN	N	37	ENSP00000350990:K37N;ENSP00000437271:K37N	ENSP00000350990:K37N	K	-	3	2	TNKS1BP1	56844746	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	0.328000	0.19681	-0.020000	0.14032	0.460000	0.39030	AAA		0.622	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		4	123	0	0	0	1	0	4	123				
HEPHL1	341208	broad.mit.edu	37	11	93836096	93836096	+	Silent	SNP	T	T	C	rs374558812		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr11:93836096T>C	ENST00000315765.9	+	15	2600	c.2592T>C	c.(2590-2592)taT>taC	p.Y864Y		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	864	Plastocyanin-like 5.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TAAAAACTTATAGATGGAATA	0.328																																						ENST00000315765.9																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(2590-2592)taT>taC		hephaestin-like 1		T		0,3576		0,0,1788	56.0	54.0	54.0		2592	2.2	1.0	11		54	1,8107		0,1,4053	no	coding-synonymous	HEPHL1	NM_001098672.1		0,1,5841	CC,CT,TT		0.0123,0.0,0.0086		864/1160	93836096	1,11683	1788	4054	5842	SO:0001819	synonymous_variant	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93836096T>C	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.2592T>C	11.37:g.93836096T>C							p.Y864Y	NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN			15	2600	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	864			Plastocyanin-like 5.		Q3C1W7	Silent	SNP	ENST00000315765.9	37	c.2592T>C	CCDS44710.1																																																																																				0.328	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		20	197	0	0	0	1	0	20	197				
NPY2R	4887	broad.mit.edu	37	4	156135406	156135406	+	Silent	SNP	G	G	A	rs148709959		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr4:156135406G>A	ENST00000329476.3	+	2	804	c.315G>A	c.(313-315)ccG>ccA	p.P105P	NPY2R_ENST00000506608.1_Silent_p.P105P	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	105					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	TGTGTCTACCGTTCACTCTTA	0.493																																						ENST00000329476.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36						c.(313-315)ccG>ccA		neuropeptide Y receptor Y2							79.0	81.0	80.0					4																	156135406		2203	4300	6503	SO:0001819	synonymous_variant	4887				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	g.chr4:156135406G>A	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"""GPCR / Class A : Neuropeptide receptors : Y"""	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.315G>A	4.37:g.156135406G>A						NPY2R_ENST00000506608.1_Silent_p.P105P	p.P105P	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN			2	804	+	all_hematologic(180;0.24)	Renal(120;0.0854)	105					Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Silent	SNP	ENST00000329476.3	37	c.315G>A	CCDS3791.1																																																																																				0.493	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910		21	246	0	0	0	1	0	21	246				
PLCD3	113026	broad.mit.edu	37	17	43194110	43194110	+	Silent	SNP	G	G	A	rs369060547		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:43194110G>A	ENST00000322765.5	-	8	1415	c.1302C>T	c.(1300-1302)tgC>tgT	p.C434C	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	434	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.C434C(2)		breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						GCTCCAGCCCGCAGTGGTTCT	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		15445	0.0		0.0	False		,,,				2504	0.001					ENST00000322765.5																			2	Substitution - coding silent(2)	p.C434C(2)	lung(2)	breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						c.(1300-1302)tgC>tgT		phospholipase C, delta 3	Phosphatidylserine(DB00144)	G		0,4292		0,0,2146	34.0	40.0	38.0		1302	-3.4	1.0	17		38	2,8520		0,2,4259	no	coding-synonymous	PLCD3	NM_133373.3		0,2,6405	AA,AG,GG		0.0235,0.0,0.0156		434/790	43194110	2,12812	2146	4261	6407	SO:0001819	synonymous_variant	113026				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr17:43194110G>A	AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.1302C>T	17.37:g.43194110G>A						PLCD3_ENST00000540511.1_5'UTR	p.C434C	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN			8	1415	-			434			PI-PLC X-box.		Q8TEC1|Q8TF37|Q96FL6	Silent	SNP	ENST00000322765.5	37	c.1302C>T																																																																																					0.647	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_133373		24	270	0	0	0	1	0	24	270				
GFRA2	2675	broad.mit.edu	37	8	21560393	21560393	+	Missense_Mutation	SNP	G	G	A	rs375798460		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr8:21560393G>A	ENST00000524240.1	-	7	1792	c.1142C>T	c.(1141-1143)aCg>aTg	p.T381M	GFRA2_ENST00000400782.4_Missense_Mutation_p.T276M|GFRA2_ENST00000518077.1_Missense_Mutation_p.T248M|GFRA2_ENST00000517328.1_Missense_Mutation_p.T381M	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	381					negative regulation of protein autophosphorylation (GO:0031953)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		CAAAGAAGGCGTCTTCTCCAC	0.627																																						ENST00000524240.1																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7						c.(1141-1143)aCg>aTg		GDNF family receptor alpha 2							81.0	89.0	86.0					8																	21560393		2073	4191	6264	SO:0001583	missense	2675					anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr8:21560393G>A	AF002700	CCDS47816.1, CCDS55207.1	8p21.3	2008-05-02			ENSG00000168546	ENSG00000168546			4244	protein-coding gene	gene with protein product		601956				9177201	Standard	NM_001165038		Approved	RETL2, GDNFRB, NTNRA, TRNR2	uc003wzu.1	O00451	OTTHUMG00000163897	ENST00000524240.1:c.1142C>T	8.37:g.21560393G>A	ENSP00000428518:p.Thr381Met					GFRA2_ENST00000400782.4_Missense_Mutation_p.T276M|GFRA2_ENST00000518077.1_Missense_Mutation_p.T248M|GFRA2_ENST00000517328.1_Missense_Mutation_p.T381M	p.T381M	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN		Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)	7	1792	-			381					E9PD47|O15316|O15328|Q58J92|Q6GTR9|Q7Z5C2	Missense_Mutation	SNP	ENST00000524240.1	37	c.1142C>T	CCDS47816.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.604221	0.28534	.	.	ENSG00000168546	ENST00000524240;ENST00000400782;ENST00000517328;ENST00000518077;ENST00000517892	T;T;T;T;T	0.32988	1.86;1.43;1.86;1.43;1.43	4.88	3.96	0.45880	.	0.540971	0.19628	N	0.109751	T	0.21103	0.0508	L	0.54323	1.7	0.34083	D	0.659752	P;P;B	0.39352	0.621;0.669;0.154	B;B;B	0.24006	0.05;0.046;0.01	T	0.38478	-0.9659	10	0.56958	D	0.05	0.0037	5.9009	0.18965	0.1161:0.1944:0.6895:0.0	.	248;276;381	O00451-2;E9PD47;O00451	.;.;GFRA2_HUMAN	M	381;276;381;248;276	ENSP00000428518:T381M;ENSP00000383592:T276M;ENSP00000429445:T381M;ENSP00000429206:T248M;ENSP00000429979:T276M	ENSP00000383592:T276M	T	-	2	0	GFRA2	21604673	0.909000	0.30893	0.610000	0.28997	0.771000	0.43674	1.310000	0.33551	1.109000	0.41680	0.561000	0.74099	ACG		0.627	GFRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376254.3	NM_001495		17	76	0	0	0	1	0	17	76				
DMRT3	58524	broad.mit.edu	37	9	990182	990182	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990182C>T	ENST00000190165.2	+	2	634	c.596C>T	c.(595-597)tCc>tTc	p.S199F		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	199					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		GAGATAGTGTCCGTGGAGGAA	0.562																																						ENST00000190165.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(595-597)tCc>tTc		doublesex and mab-3 related transcription factor 3							55.0	61.0	59.0					9																	990182		2203	4300	6503	SO:0001583	missense	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990182C>T	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.596C>T	9.37:g.990182C>T	ENSP00000190165:p.Ser199Phe						p.S199F	NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	2	634	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	199					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	c.596C>T	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.777198	0.31411	.	.	ENSG00000064218	ENST00000190165;ENST00000417254	T;T	0.34859	1.34;1.34	4.83	4.83	0.62350	.	0.641499	0.15958	N	0.236396	T	0.39517	0.1081	M	0.64997	1.995	0.38581	D	0.950197	P	0.34837	0.472	B	0.30495	0.116	T	0.50923	-0.8770	10	0.72032	D	0.01	-14.6031	17.9127	0.88939	0.0:1.0:0.0:0.0	.	199	Q9NQL9	DMRT3_HUMAN	F	199;62	ENSP00000190165:S199F;ENSP00000387472:S62F	ENSP00000190165:S199F	S	+	2	0	DMRT3	980182	1.000000	0.71417	0.239000	0.24122	0.159000	0.22180	7.088000	0.76901	2.233000	0.73108	0.557000	0.71058	TCC		0.562	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		27	326	0	0	0	1	0	27	326				
CYP11A1	1583	broad.mit.edu	37	15	74636146	74636146	+	Silent	SNP	G	G	A	rs371896933		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr15:74636146G>A	ENST00000268053.6	-	4	967	c.813C>T	c.(811-813)gaC>gaT	p.D271D	CYP11A1_ENST00000358632.4_Silent_p.D113D|CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000419019.2_Silent_p.D113D	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	271			D -> DGD (in AICSR; complete loss of activity). {ECO:0000269|PubMed:11502818}.		biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	TGAAAATCACGTCCCATGCAG	0.592																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	ENST00000358632.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(337-339)gaC>gaT		cytochrome P450, family 11, subfamily A, polypeptide 1	Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)		,	1,4393	2.1+/-5.4	0,1,2196	169.0	162.0	165.0		813,339	-8.7	0.0	15		165	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous	CYP11A1	NM_000781.2,NM_001099773.1	,	0,1,6492	AA,AG,GG		0.0,0.0228,0.0077	,	271/522,113/364	74636146	1,12985	2197	4296	6493	SO:0001819	synonymous_variant	1583				C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	g.chr15:74636146G>A	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.813C>T	15.37:g.74636146G>A						CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000268053.6_Silent_p.D271D|CYP11A1_ENST00000419019.2_Silent_p.D113D	p.D113D	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN			4	1034	-			271					A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Silent	SNP	ENST00000268053.6	37	c.339C>T	CCDS32291.1																																																																																				0.592	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1			177	860	0	0	0	1	0	177	860				
SCN5A	6331	broad.mit.edu	37	3	38592495	38592495	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:38592495C>T	ENST00000333535.4	-	28	5517	c.5368G>A	c.(5368-5370)Gac>Aac	p.D1790N	SCN5A_ENST00000451551.2_Missense_Mutation_p.D1736N|SCN5A_ENST00000413689.1_Missense_Mutation_p.D1790N|SCN5A_ENST00000414099.2_Missense_Mutation_p.D1772N|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000443581.1_Missense_Mutation_p.D1789N|SCN5A_ENST00000449557.2_Missense_Mutation_p.D1736N|SCN5A_ENST00000425664.1_Missense_Mutation_p.D1772N|SCN5A_ENST00000450102.2_Missense_Mutation_p.D1736N|SCN5A_ENST00000455624.2_Missense_Mutation_p.D1757N|SCN5A_ENST00000423572.2_Missense_Mutation_p.D1789N			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1790			D -> G (in LQT3). {ECO:0000269|PubMed:9686753}.		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	ATATCGAAGTCGTCCTCACTC	0.512																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(5368-5370)Gac>Aac		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						70.0	74.0	73.0					3																	38592495		2203	4300	6503	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38592495C>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5368G>A	3.37:g.38592495C>T	ENSP00000328968:p.Asp1790Asn					SCN5A_ENST00000449557.2_Missense_Mutation_p.D1736N|SCN5A_ENST00000443581.1_Missense_Mutation_p.D1789N|SCN5A_ENST00000414099.2_Missense_Mutation_p.D1772N|SCN5A_ENST00000423572.2_Missense_Mutation_p.D1789N|SCN5A_ENST00000333535.4_Missense_Mutation_p.D1790N|SCN5A_ENST00000425664.1_Missense_Mutation_p.D1772N|SCN5A_ENST00000455624.2_Missense_Mutation_p.D1757N|SCN5A_ENST00000451551.2_Missense_Mutation_p.D1736N|SCN5A_ENST00000450102.2_Missense_Mutation_p.D1736N	p.D1790N	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	28	5561	-	Medulloblastoma(35;0.163)		1790		D -> G (in LQT3).			A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.5368G>A	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522522	0.85600	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96651	-3.95;-3.98;-3.99;-4.04;-3.98;-3.95;-3.98;-4.08;-4.04;-4.04	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.98738	0.9576	H	0.95437	3.67	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.995;0.999;0.998;1.0;0.999	D	0.99698	1.1003	10	0.87932	D	0	.	18.0868	0.89460	0.0:1.0:0.0:0.0	.	1736;1757;1772;1790;1789;1790	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	N	1772;1789;1790;1736;1789;1772;1790;1757;1736;1736	ENSP00000398962:D1772N;ENSP00000398266:D1789N;ENSP00000410257:D1790N;ENSP00000388797:D1736N;ENSP00000397915:D1789N;ENSP00000416634:D1772N;ENSP00000328968:D1790N;ENSP00000399524:D1757N;ENSP00000403355:D1736N;ENSP00000413996:D1736N	ENSP00000328968:D1790N	D	-	1	0	SCN5A	38567499	1.000000	0.71417	0.999000	0.59377	0.908000	0.53690	7.640000	0.83355	2.504000	0.84457	0.563000	0.77884	GAC		0.512	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		31	285	0	0	0	1	0	31	285				
KLK4	9622	broad.mit.edu	37	19	51411614	51411614	+	Splice_Site	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr19:51411614C>T	ENST00000324041.1	-	4	612		c.e4+1		KLK4_ENST00000597441.1_5'Flank|KLK4_ENST00000431178.2_Intron	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4						amelogenesis (GO:0097186)|extracellular matrix disassembly (GO:0022617)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		CCCTCTCTCACGTTGCAGGAG	0.622																																						ENST00000324041.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19						c.e4+1		kallikrein-related peptidase 4							97.0	82.0	87.0					19																	51411614		2203	4300	6503	SO:0001630	splice_region_variant	9622				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr19:51411614C>T	AF113141	CCDS12809.1	19q13.41	2014-09-04	2006-10-27		ENSG00000167749	ENSG00000167749		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6365	protein-coding gene	gene with protein product		603767	"""kallikrein 4 (prostase, enamel matrix, prostate)"""	PRSS17		10077646, 10438493, 16800724, 10863090, 9465170	Standard	XM_005259441		Approved	EMSP, EMSP1, PSTS, KLK-L1	uc002pua.1	Q9Y5K2	OTTHUMG00000182964	ENST00000324041.1:c.612+1G>A	19.37:g.51411614C>T						KLK4_ENST00000431178.2_Intron		NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)	4	612	-		all_neural(266;0.026)						Q4VB16|Q96RU5|Q9GZL6|Q9UBJ6	Splice_Site	SNP	ENST00000324041.1	37		CCDS12809.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.370974	0.24771	.	.	ENSG00000167749	ENST00000324041	.	.	.	3.68	2.6	0.31112	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.915	0.47131	0.0:0.8071:0.1928:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KLK4	56103426	0.993000	0.37304	0.493000	0.27502	0.005000	0.04900	4.004000	0.57068	0.845000	0.35118	0.555000	0.69702	.		0.622	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464449.1	NM_004917	Intron	47	520	0	0	0	1	0	47	520				
MMP3	4314	broad.mit.edu	37	11	102706890	102706890	+	Missense_Mutation	SNP	G	G	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr11:102706890G>T	ENST00000299855.5	-	10	1657	c.1401C>A	c.(1399-1401)caC>caA	p.H467Q	WTAPP1_ENST00000525739.2_RNA	NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	467					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	TCTTCAAAGTGTGTGTCACTT	0.358																																						ENST00000299855.5																			0				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(1399-1401)caC>caA		matrix metallopeptidase 3 (stromelysin 1, progelatinase)	Marimastat(DB00786)|Simvastatin(DB00641)						174.0	163.0	167.0					11																	102706890		2203	4299	6502	SO:0001583	missense	4314				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102706890G>T	X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"""matrix metalloproteinase 3 (stromelysin 1, progelatinase)"""	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.1401C>A	11.37:g.102706890G>T	ENSP00000299855:p.His467Gln					WTAPP1_ENST00000525739.2_RNA	p.H467Q	NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0142)	10	1657	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	467			Hemopexin-like 4.		B2R8B8|Q3B7S0|Q6GRF8	Missense_Mutation	SNP	ENST00000299855.5	37	c.1401C>A	CCDS8323.1	.	.	.	.	.	.	.	.	.	.	G	9.248	1.040042	0.19669	.	.	ENSG00000149968	ENST00000299855	T	0.02345	4.33	5.14	-4.09	0.03951	Hemopexin/matrixin (2);	0.401678	0.15968	N	0.235915	T	0.01765	0.0056	L	0.31526	0.94	0.09310	N	1	B	0.10296	0.003	B	0.15052	0.012	T	0.42310	-0.9459	10	0.31617	T	0.26	.	3.2725	0.06887	0.3283:0.0957:0.4273:0.1487	.	467	P08254	MMP3_HUMAN	Q	467	ENSP00000299855:H467Q	ENSP00000299855:H467Q	H	-	3	2	MMP3	102212100	0.000000	0.05858	0.001000	0.08648	0.946000	0.59487	-1.071000	0.03437	-0.464000	0.06963	-0.302000	0.09304	CAC		0.358	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2	NM_002422		60	433	1	0	9.61844e-40	1	1.04036e-39	60	433				
FRMD7	90167	broad.mit.edu	37	X	131212649	131212649	+	Missense_Mutation	SNP	T	T	G			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chrX:131212649T>G	ENST00000298542.4	-	12	1571	c.1396A>C	c.(1396-1398)Aaa>Caa	p.K466Q	FRMD7_ENST00000464296.1_Missense_Mutation_p.K451Q|FRMD7_ENST00000370879.1_Missense_Mutation_p.K346Q	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	466					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GGACGCACTTTGCTTGTGAGG	0.438																																						ENST00000298542.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1396-1398)Aaa>Caa		FERM domain containing 7							176.0	161.0	166.0					X																	131212649		2203	4300	6503	SO:0001583	missense	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131212649T>G	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.1396A>C	X.37:g.131212649T>G	ENSP00000298542:p.Lys466Gln					FRMD7_ENST00000370879.1_Missense_Mutation_p.K346Q|FRMD7_ENST00000464296.1_Missense_Mutation_p.K451Q	p.K466Q	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN			12	1571	-	Acute lymphoblastic leukemia(192;0.000127)		466					C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	37	c.1396A>C	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	T	12.17	1.857234	0.32791	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	D;D;D	0.86432	-2.12;-1.78;-1.89	5.76	3.06	0.35304	.	0.865793	0.10146	N	0.710259	D	0.82435	0.5036	L	0.54323	1.7	0.22796	N	0.998721	P;P	0.43094	0.799;0.698	B;B	0.39840	0.311;0.115	T	0.70303	-0.4909	10	0.37606	T	0.19	.	5.8957	0.18937	0.0:0.4209:0.0:0.5791	.	451;466	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	Q	346;466;451	ENSP00000359916:K346Q;ENSP00000298542:K466Q;ENSP00000417996:K451Q	ENSP00000298542:K466Q	K	-	1	0	FRMD7	131040330	0.200000	0.23398	0.958000	0.39756	0.764000	0.43329	1.090000	0.30902	0.806000	0.34183	0.486000	0.48141	AAA		0.438	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		85	1055	0	0	0	1	0	85	1055				
TES	26136	broad.mit.edu	37	7	115891866	115891866	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr7:115891866C>T	ENST00000358204.4	+	5	970	c.755C>T	c.(754-756)gCc>gTc	p.A252V	TES_ENST00000393481.2_Missense_Mutation_p.A243V|AC073130.3_ENST00000444244.1_RNA|AC002066.1_ENST00000446355.2_RNA|TES_ENST00000537767.1_Missense_Mutation_p.A10V	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	252	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			GCCATCTATGCCGAAAGGGCT	0.463																																						ENST00000358204.4																			0				endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(754-756)gCc>gTc		testis derived transcript (3 LIM domains)							147.0	144.0	145.0					7																	115891866		2203	4300	6503	SO:0001583	missense	26136				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding	g.chr7:115891866C>T	AJ250865	CCDS5763.1, CCDS5764.1	7q31.2	2004-04-20			ENSG00000135269	ENSG00000135269			14620	protein-coding gene	gene with protein product		606085				10950921	Standard	NM_015641		Approved	DKFZP586B2022, TESS-2, TESTIN	uc003vho.3	Q9UGI8	OTTHUMG00000023092	ENST00000358204.4:c.755C>T	7.37:g.115891866C>T	ENSP00000350937:p.Ala252Val					AC073130.3_ENST00000444244.1_RNA|TES_ENST00000393481.2_Missense_Mutation_p.A243V|TES_ENST00000537767.1_Missense_Mutation_p.A10V|AC002066.1_ENST00000446355.2_RNA	p.A252V	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		5	970	+	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	252			LIM zinc-binding 1.		A4D0U6|Q9GZQ1|Q9HAJ9	Missense_Mutation	SNP	ENST00000358204.4	37	c.755C>T	CCDS5763.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.167171|5.167171	0.94768|0.94768	.|.	.|.	ENSG00000135269|ENSG00000135269	ENST00000358204;ENST00000537767;ENST00000257721;ENST00000393481|ENST00000393484	D;T;D|.	0.86562|.	-2.14;0.59;-2.14|.	5.3|5.3	5.3|5.3	0.74995|0.74995	Zinc finger, LIM-type (5);|.	0.000000|.	0.64402|.	D|.	0.000002|.	D|D	0.83718|0.83718	0.5315|0.5315	M|M	0.86502|0.86502	2.82|2.82	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	D|D	0.85379|0.85379	0.1118|0.1118	10|5	0.87932|.	D|.	0|.	-14.4227|-14.4227	19.3336|19.3336	0.94306|0.94306	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	252|.	Q9UGI8|.	TES_HUMAN|.	V|S	252;10;252;243|39	ENSP00000350937:A252V;ENSP00000441607:A10V;ENSP00000377121:A243V|.	ENSP00000257721:A252V|.	A|P	+|+	2|1	0|0	TES|TES	115679102|115679102	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.782000|0.782000	0.44232|0.44232	7.422000|7.422000	0.80217|0.80217	2.647000|2.647000	0.89833|0.89833	0.655000|0.655000	0.94253|0.94253	GCC|CCG		0.463	TES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059413.2	NM_015641		87	596	0	0	0	1	0	87	596				
CHRD	8646	broad.mit.edu	37	3	184104344	184104344	+	Missense_Mutation	SNP	T	T	G			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:184104344T>G	ENST00000204604.1	+	16	2243	c.1997T>G	c.(1996-1998)gTg>gGg	p.V666G	CHRD_ENST00000450923.1_Missense_Mutation_p.V666G|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.V626G|CHRD_ENST00000545352.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	666					BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCGAGGGGGTGCGGGCGCTG	0.726																																						ENST00000204604.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1996-1998)gTg>gGg		chordin							3.0	4.0	3.0					3																	184104344		1677	3445	5122	SO:0001583	missense	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184104344T>G	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.1997T>G	3.37:g.184104344T>G	ENSP00000204604:p.Val666Gly					CHRD_ENST00000450923.1_Missense_Mutation_p.V666G|CHRD_ENST00000348986.3_Missense_Mutation_p.V626G|CHRD_ENST00000545352.1_Intron|EIF2B5_ENST00000444495.1_Intron	p.V666G	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		16	2243	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		666					O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	c.1997T>G	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	T	11.39	1.625293	0.28889	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000342610	T;T;T	0.14266	2.75;2.53;2.52	4.58	-6.5	0.01884	.	1.936180	0.02212	N	0.063242	T	0.10252	0.0251	L	0.27053	0.805	0.09310	N	0.999999	B;B;B	0.26845	0.161;0.032;0.025	B;B;B	0.24394	0.053;0.021;0.024	T	0.15492	-1.0435	10	0.17832	T	0.49	0.1754	14.5119	0.67794	0.0:0.1738:0.0:0.8262	.	626;666;666	Q9H2X0-5;E7ESX1;Q9H2X0	.;.;CHRD_HUMAN	G	666;666;626;379	ENSP00000204604:V666G;ENSP00000408972:V666G;ENSP00000334036:V626G	ENSP00000204604:V666G	V	+	2	0	CHRD	185587038	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.285000	0.01153	-1.320000	0.02283	-0.479000	0.04858	GTG		0.726	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		7	31	0	0	0	1	0	7	31				
ZNF208	7757	broad.mit.edu	37	19	22156518	22156518	+	Missense_Mutation	SNP	G	G	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr19:22156518G>T	ENST00000397126.4	-	4	1466	c.1318C>A	c.(1318-1320)Ctt>Att	p.L440I	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	440					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGTTCCATAAGGTTTGAGGAC	0.378																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(1318-1320)Ctt>Att		zinc finger protein 208							82.0	89.0	87.0					19																	22156518		2114	4251	6365	SO:0001583	missense	7757							g.chr19:22156518G>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1318C>A	19.37:g.22156518G>T	ENSP00000380315:p.Leu440Ile					ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	p.L440I	NM_007153.3	NP_009084.2					4	1466	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.1318C>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.093235	0.36952	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.53857	0.6	2.83	-1.07	0.09968	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.66117	0.2757	.	.	.	0.09310	N	1	P	0.52061	0.95	D	0.75484	0.986	T	0.55958	-0.8058	8	0.66056	D	0.02	.	7.5067	0.27549	0.4539:0.0:0.5461:0.0	.	440	O43345	ZN208_HUMAN	I	440	ENSP00000380315:L440I	ENSP00000380315:L440I	L	-	1	0	ZNF208	21948358	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.672000	0.05244	-0.162000	0.10964	0.306000	0.20318	CTT		0.378	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		35	392	1	0	6.90743e-12	1	7.22553e-12	35	392				
CDKL4	344387	broad.mit.edu	37	2	39440588	39440588	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:39440588C>T	ENST00000395035.3	-	3	315	c.316G>A	c.(316-318)Gta>Ata	p.V106I	CDKL4_ENST00000378803.1_Missense_Mutation_p.V106I			Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	106	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TGCCATAATACGCTTTTGATC	0.338																																						ENST00000378803.1																			0				breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12						c.(316-318)Gta>Ata		cyclin-dependent kinase-like 4							80.0	88.0	85.0					2																	39440588		2203	4300	6503	SO:0001583	missense	344387					cytoplasm	ATP binding|cyclin-dependent protein kinase activity	g.chr2:39440588C>T		CCDS33184.1	2p22.3	2011-11-04			ENSG00000205111	ENSG00000205111		"""Cyclin-dependent kinases"""	19287	protein-coding gene	gene with protein product							Standard	NM_001009565		Approved		uc002rrm.3	Q5MAI5	OTTHUMG00000133574	ENST00000395035.3:c.316G>A	2.37:g.39440588C>T	ENSP00000378476:p.Val106Ile					CDKL4_ENST00000395035.3_Missense_Mutation_p.V106I	p.V106I	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN			3	315	-		all_hematologic(82;0.248)	106			Protein kinase.		Q2NME9	Missense_Mutation	SNP	ENST00000395035.3	37	c.316G>A		.	.	.	.	.	.	.	.	.	.	C	9.681	1.149388	0.21288	.	.	ENSG00000205111	ENST00000378803;ENST00000395035	T;T	0.62639	0.01;0.01	4.67	4.67	0.58626	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44902	D	0.000418	T	0.37293	0.0998	N	0.03084	-0.415	0.30363	N	0.783641	B;B	0.18610	0.029;0.0	B;B	0.19148	0.024;0.004	T	0.28427	-1.0044	10	0.21540	T	0.41	-6.6072	13.0982	0.59206	0.0:1.0:0.0:0.0	.	106;106	Q2NME9;Q5MAI5	.;CDKL4_HUMAN	I	106	ENSP00000368080:V106I;ENSP00000378476:V106I	ENSP00000368080:V106I	V	-	1	0	CDKL4	39294092	0.996000	0.38824	0.997000	0.53966	0.984000	0.73092	0.885000	0.28227	2.147000	0.66899	0.561000	0.74099	GTA		0.338	CDKL4-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000331655.1	XM_293029		20	378	0	0	0	1	0	20	378				
SALL1	6299	broad.mit.edu	37	16	51173233	51173233	+	Missense_Mutation	SNP	C	C	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr16:51173233C>A	ENST00000251020.4	-	2	2933	c.2900G>T	c.(2899-2901)gGt>gTt	p.G967V	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.G870V	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	967					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CAAAGCCCCACCATTCACTGG	0.483																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(2608-2610)gGt>gTt		spalt-like transcription factor 1							53.0	44.0	47.0					16																	51173233		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51173233C>A	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2900G>T	16.37:g.51173233C>A	ENSP00000251020:p.Gly967Val					SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.G967V	p.G870V	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	3040	-		all_cancers(37;0.0322)	967					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.2609G>T	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.434841	0.25813	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.79033	-1.23;-1.23	5.6	5.6	0.85130	.	0.251543	0.47455	D	0.000238	T	0.72835	0.3510	L	0.39147	1.195	0.58432	D	0.999999	B	0.18310	0.027	B	0.12837	0.008	T	0.66396	-0.5934	10	0.38643	T	0.18	.	19.6099	0.95600	0.0:1.0:0.0:0.0	.	967	Q9NSC2	SALL1_HUMAN	V	967;870;931	ENSP00000251020:G967V;ENSP00000407914:G870V	ENSP00000251020:G967V	G	-	2	0	SALL1	49730734	0.998000	0.40836	0.933000	0.37362	0.782000	0.44232	5.039000	0.64185	2.626000	0.88956	0.557000	0.71058	GGT		0.483	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		40	200	1	0	5.71845e-15	1	6.02141e-15	40	200				
CADM3	57863	broad.mit.edu	37	1	159169659	159169659	+	Silent	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:159169659G>A	ENST00000368125.4	+	8	1228	c.1071G>A	c.(1069-1071)cgG>cgA	p.R357R	CTA-134P22.2_ENST00000609696.1_RNA|CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000497636.1_3'UTR|CADM3_ENST00000368124.4_Silent_p.R391R	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	357					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.R391R(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					ACTTGATCCGGCACAAAGGTC	0.562																																						ENST00000368125.4																			2	Substitution - coding silent(2)	p.R391R(2)	endometrium(1)|central_nervous_system(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(1069-1071)cgG>cgA		cell adhesion molecule 3							95.0	75.0	82.0					1																	159169659		2203	4300	6503	SO:0001819	synonymous_variant	57863				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159169659G>A	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.1071G>A	1.37:g.159169659G>A						CADM3_ENST00000497636.1_3'UTR|CADM3_ENST00000368124.4_Silent_p.R391R|CTA-134P22.2_ENST00000415675.2_RNA	p.R357R	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN			8	1228	+	all_hematologic(112;0.0429)		357					Q8IZQ9|Q9NVJ5|Q9UJP1	Silent	SNP	ENST00000368125.4	37	c.1071G>A	CCDS44251.1																																																																																				0.562	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		5	180	0	0	0	1	0	5	180				
PCDHGA11	56105	broad.mit.edu	37	5	140801533	140801533	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr5:140801533G>A	ENST00000398587.2	+	1	772	c.739G>A	c.(739-741)Gta>Ata	p.V247I	PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.V247I|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	247	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACACAGTCCGTATATCGCGT	0.502																																						ENST00000398587.2																			0				breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49						c.(739-741)Gta>Ata									106.0	109.0	108.0					5																	140801533		1994	4170	6164	SO:0001583	missense	0							g.chr5:140801533G>A	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.739G>A	5.37:g.140801533G>A	ENSP00000381589:p.Val247Ile					PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.V247I|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron	p.V247I	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	772	+								B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	ENST00000398587.2	37	c.739G>A	CCDS47294.1	.	.	.	.	.	.	.	.	.	.	g	7.771	0.707484	0.15239	.	.	ENSG00000253873	ENST00000398587;ENST00000518882	T;T	0.01767	4.65;4.65	5.96	4.16	0.48862	Cadherin (3);Cadherin-like (1);	0.655568	0.10334	U	0.687150	T	0.01558	0.0050	L	0.28054	0.825	0.09310	N	1	B;P;B	0.36944	0.181;0.574;0.276	B;B;B	0.21708	0.014;0.036;0.031	T	0.52525	-0.8564	10	0.30078	T	0.28	.	11.6301	0.51168	0.0674:0.1249:0.8077:0.0	.	247;247;247	Q9Y5H2;Q9Y5H2-3;Q9Y5H2-2	PCDGB_HUMAN;.;.	I	247	ENSP00000381589:V247I;ENSP00000428333:V247I	ENSP00000381589:V247I	V	+	1	0	PCDHGA11	140781717	0.000000	0.05858	0.210000	0.23637	0.805000	0.45488	0.499000	0.22546	0.838000	0.34948	0.655000	0.94253	GTA		0.502	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		6	580	0	0	0	1	0	6	580				
SORCS3	22986	broad.mit.edu	37	10	106899195	106899195	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr10:106899195G>A	ENST00000369701.3	+	8	1480	c.1253G>A	c.(1252-1254)cGa>cAa	p.R418Q		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	418					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GTGTCTTATCGAAGAGAGGCC	0.502																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(1252-1254)cGa>cAa		sortilin-related VPS10 domain containing receptor 3							186.0	170.0	176.0					10																	106899195		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106899195G>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1253G>A	10.37:g.106899195G>A	ENSP00000358715:p.Arg418Gln						p.R418Q	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	8	1480	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	418					Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.1253G>A	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.008494	0.54361	.	.	ENSG00000156395	ENST00000369701	T	0.32753	1.44	5.66	3.81	0.43845	VPS10 (1);	0.200706	0.43260	D	0.000585	T	0.20047	0.0482	L	0.31207	0.915	0.34890	D	0.745424	B	0.24675	0.109	B	0.17098	0.017	T	0.18085	-1.0348	10	0.41790	T	0.15	.	8.0783	0.30729	0.2916:0.0:0.7084:0.0	.	418	Q9UPU3	SORC3_HUMAN	Q	418	ENSP00000358715:R418Q	ENSP00000358715:R418Q	R	+	2	0	SORCS3	106889185	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	1.674000	0.37544	1.398000	0.46701	0.561000	0.74099	CGA		0.502	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		44	473	0	0	0	1	0	44	473				
TIMD4	91937	broad.mit.edu	37	5	156378788	156378788	+	Silent	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr5:156378788C>T	ENST00000274532.2	-	3	470	c.414G>A	c.(412-414)acG>acA	p.T138T	TIMD4_ENST00000407087.3_Silent_p.T138T	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	138	Thr-rich.					integral component of membrane (GO:0016021)		p.T138T(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGTTCTGTGCGTGGTTGTTG	0.493																																						ENST00000274532.2																			1	Substitution - coding silent(1)	p.T138T(1)	endometrium(1)	NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37						c.(412-414)acG>acA		T-cell immunoglobulin and mucin domain containing 4							665.0	578.0	607.0					5																	156378788		2203	4300	6503	SO:0001819	synonymous_variant	91937					integral to membrane		g.chr5:156378788C>T	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.414G>A	5.37:g.156378788C>T						TIMD4_ENST00000407087.3_Silent_p.T138T	p.T138T	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	470	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	138			Thr-rich.		B5MCL9	Silent	SNP	ENST00000274532.2	37	c.414G>A	CCDS4332.1																																																																																				0.493	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		79	1059	0	0	0	1	0	79	1059				
BMP3	651	broad.mit.edu	37	4	81967430	81967430	+	Silent	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr4:81967430G>A	ENST00000282701.2	+	2	1175	c.855G>A	c.(853-855)cgG>cgA	p.R285R		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	285					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CCATTGAGCGGAGGAAGAAGC	0.512																																						ENST00000282701.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(853-855)cgG>cgA		bone morphogenetic protein 3							69.0	75.0	73.0					4																	81967430		2203	4299	6502	SO:0001819	synonymous_variant	651				cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr4:81967430G>A	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"""Bone morphogenetic proteins"""	1070	protein-coding gene	gene with protein product	"""osteogenin"""	112263	"""bone morphogenetic protein 3 (osteogenic)"""				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.855G>A	4.37:g.81967430G>A							p.R285R	NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN			2	1175	+			285					Q4VAS5	Silent	SNP	ENST00000282701.2	37	c.855G>A	CCDS3588.1																																																																																				0.512	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			32	353	0	0	0	1	0	32	353				
KCNN2	3781	broad.mit.edu	37	5	113698895	113698895	+	Silent	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr5:113698895C>T	ENST00000512097.3	+	2	1441	c.423C>T	c.(421-423)ttC>ttT	p.F141F	KCNN2_ENST00000264773.3_Silent_p.F141F|KCNN2_ENST00000507750.1_3'UTR			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	141					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	CGCTCATCTTCGGCATGTTCG	0.602																																						ENST00000512097.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(421-423)ttC>ttT		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2							34.0	35.0	35.0					5																	113698895		2202	4300	6502	SO:0001819	synonymous_variant	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113698895C>T	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.423C>T	5.37:g.113698895C>T						KCNN2_ENST00000507750.1_3'UTR|KCNN2_ENST00000264773.3_Silent_p.F141F	p.F141F			Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	2	1441	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	141					A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Silent	SNP	ENST00000512097.3	37	c.423C>T	CCDS4114.1																																																																																				0.602	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		13	208	0	0	0	1	0	13	208				
SYT16	83851	broad.mit.edu	37	14	62541981	62541981	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr14:62541981G>A	ENST00000430451.2	+	3	1062	c.865G>A	c.(865-867)Gag>Aag	p.E289K	SYT16_ENST00000446982.2_Missense_Mutation_p.E289K|RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	289					exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ATCTCACCAAGAGTCCAGTGT	0.527																																						ENST00000430451.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35						c.(865-867)Gag>Aag		synaptotagmin XVI							70.0	71.0	70.0					14																	62541981		1992	4177	6169	SO:0001583	missense	83851							g.chr14:62541981G>A	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.865G>A	14.37:g.62541981G>A	ENSP00000394700:p.Glu289Lys					RP11-355I22.5_ENST00000553990.1_lincRNA|SYT16_ENST00000446982.2_Missense_Mutation_p.E289K	p.E289K	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	3	1062	+			289					B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	ENST00000430451.2	37	c.865G>A	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.026356	0.54683	.	.	ENSG00000139973	ENST00000446982;ENST00000430451	T;T	0.36340	1.26;3.69	5.45	5.45	0.79879	.	0.563265	0.19757	N	0.106752	T	0.50120	0.1597	L	0.58101	1.795	0.29100	N	0.881545	D;B	0.59357	0.985;0.399	P;B	0.54270	0.747;0.15	T	0.42172	-0.9467	10	0.23891	T	0.37	-10.6923	19.4735	0.94973	0.0:0.0:1.0:0.0	.	289;289	B4DZH2;Q17RD7	.;SYT16_HUMAN	K	289	ENSP00000388023:E289K;ENSP00000394700:E289K	ENSP00000394700:E289K	E	+	1	0	SYT16	61611734	1.000000	0.71417	0.017000	0.16124	0.052000	0.14988	6.691000	0.74573	2.836000	0.97738	0.655000	0.94253	GAG		0.527	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		13	227	0	0	0	1	0	13	227				
WDR63	126820	broad.mit.edu	37	1	85561704	85561704	+	Splice_Site	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:85561704G>A	ENST00000294664.6	+	11	1443		c.e11+1		WDR63_ENST00000370596.1_Splice_Site|WDR63_ENST00000326813.8_Splice_Site	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63											NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		CAATGGGCAGGTACTTAACAG	0.388																																						ENST00000294664.6																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36						c.e11+1		WD repeat domain 63							129.0	123.0	125.0					1																	85561704		2203	4300	6503	SO:0001630	splice_region_variant	126820							g.chr1:85561704G>A		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.1263+1G>A	1.37:g.85561704G>A						WDR63_ENST00000370596.1_Splice_Site|WDR63_ENST00000326813.8_Splice_Site		NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	11	1443	+								A8K988|Q96L72|Q96NU4	Splice_Site	SNP	ENST00000294664.6	37		CCDS702.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173447	0.78452	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2417	0.93887	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR63	85334292	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	8.769000	0.91742	2.545000	0.85829	0.585000	0.79938	.		0.388	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172	Intron	25	434	0	0	0	1	0	25	434				
DNAH17	8632	broad.mit.edu	37	17	76455227	76455227	+	Silent	SNP	G	G	A	rs139000751	byFrequency	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:76455227G>A	ENST00000585328.1	-	61	9826	c.9702C>T	c.(9700-9702)gcC>gcT	p.A3234A	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Silent_p.A3225A	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3225	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGCACAGGCCGGCGGCGGCCG	0.652																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(9673-9675)gcC>gcT		dynein, axonemal, heavy chain 17		G		3,4403	6.2+/-15.9	0,3,2200	165.0	179.0	174.0		9717	-10.7	0.1	17	dbSNP_134	174	0,8600		0,0,4300	no	coding-synonymous	DNAH17	NM_173628.3		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		3239/4463	76455227	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	8632							g.chr17:76455227G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.9702C>T	17.37:g.76455227G>A						DNAH17_ENST00000585328.1_Silent_p.A3234A|DNAH17_ENST00000586052.1_5'UTR	p.A3225A					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		61	9799	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.9675C>T																																																																																					0.652	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		105	1145	0	0	0	1	0	105	1145				
PRKCQ	5588	broad.mit.edu	37	10	6557092	6557092	+	Silent	SNP	C	C	T	rs201768145		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr10:6557092C>T	ENST00000263125.5	-	2	105	c.6G>A	c.(4-6)tcG>tcA	p.S2S	PRKCQ_ENST00000397176.2_Silent_p.S2S|PRKCQ_ENST00000539722.1_5'UTR	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	2					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	GAAGAAATGGCGACATGGTTG	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		19940	0.0		0.0	False		,,,				2504	0.001				Ovarian(50;572 1126 10530 25349 30594)	ENST00000263125.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						c.(4-6)tcG>tcA		protein kinase C, theta							64.0	66.0	65.0					10																	6557092		2203	4300	6503	SO:0001819	synonymous_variant	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6557092C>T	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.6G>A	10.37:g.6557092C>T						PRKCQ_ENST00000397176.2_Silent_p.S2S|PRKCQ_ENST00000539722.1_5'UTR	p.S2S	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN			2	105	-			2					B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Silent	SNP	ENST00000263125.5	37	c.6G>A	CCDS7079.1																																																																																				0.478	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		21	244	0	0	0	1	0	21	244				
EXOG	9941	broad.mit.edu	37	3	38537984	38537984	+	Missense_Mutation	SNP	G	G	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:38537984G>T	ENST00000287675.5	+	1	222	c.126G>T	c.(124-126)caG>caT	p.Q42H	EXOG_ENST00000358249.2_5'UTR|EXOG_ENST00000422077.2_Missense_Mutation_p.Q42H	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	42					DNA catabolic process, endonucleolytic (GO:0000737)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						TCCGGAGTCAGGGCGCTGAGG	0.672											OREG0015479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000287675.5																			0				central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						c.(124-126)caG>caT		endo/exonuclease (5'-3'), endonuclease G-like							49.0	48.0	48.0					3																	38537984		2203	4300	6503	SO:0001583	missense	9941					mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding	g.chr3:38537984G>T	AB020523	CCDS2680.1, CCDS46795.1	3p21.3	2010-05-07	2009-01-08	2009-01-08	ENSG00000157036	ENSG00000157036	3.1.30.-		3347	protein-coding gene	gene with protein product		604051	"""endonuclease G-like 1"", ""endonuclease G-like 2"""	ENDOGL1, ENDOGL2		10231028, 18187503	Standard	NM_005107		Approved	ENGL-a, ENGL, ENGL-b	uc003cih.2	Q9Y2C4	OTTHUMG00000131295	ENST00000287675.5:c.126G>T	3.37:g.38537984G>T	ENSP00000287675:p.Gln42His		OREG0015479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	879	EXOG_ENST00000358249.2_5'UTR|EXOG_ENST00000422077.2_Missense_Mutation_p.Q42H	p.Q42H	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN			1	222	+			42					A8K242|B4DVG2|Q3SXM9|Q9Y2C8	Missense_Mutation	SNP	ENST00000287675.5	37	c.126G>T	CCDS2680.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.353019|4.353019	0.82132|0.82132	.|.	.|.	ENSG00000157036|ENSG00000157036	ENST00000453767|ENST00000287675;ENST00000422077	.|T;T	.|0.49139	.|0.89;0.79	5.04|5.04	4.14|4.14	0.48551|0.48551	.|.	.|0.592761	.|0.16055	.|N	.|0.231752	T|T	0.36054|0.36054	0.0953|0.0953	L|L	0.29908|0.29908	0.895|0.895	0.30194|0.30194	N|N	0.799236|0.799236	.|P;P	.|0.40794	.|0.729;0.61	.|B;B	.|0.41236	.|0.351;0.191	T|T	0.21109|0.21109	-1.0255|-1.0255	5|10	.|0.33940	.|T	.|0.23	-0.4337|-0.4337	9.6255|9.6255	0.39748|0.39748	0.098:0.0:0.902:0.0|0.098:0.0:0.902:0.0	.|.	.|42;42	.|Q9Y2C4-4;Q9Y2C4	.|.;EXOG_HUMAN	W|H	5|42	.|ENSP00000287675:Q42H;ENSP00000404305:Q42H	.|ENSP00000287675:Q42H	G|Q	+|+	1|3	0|2	EXOG|EXOG	38512988|38512988	0.009000|0.009000	0.17119|0.17119	0.051000|0.051000	0.19133|0.19133	0.897000|0.897000	0.52465|0.52465	1.661000|1.661000	0.37408|0.37408	2.624000|2.624000	0.88883|0.88883	0.655000|0.655000	0.94253|0.94253	GGG|CAG		0.672	EXOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254063.2	NM_005107		7	459	1	0	0.00198382	1	0.00199637	7	459				
P4HA1	5033	broad.mit.edu	37	10	74770789	74770789	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr10:74770789C>T	ENST00000307116.2	-	13	1491	c.1375G>A	c.(1375-1377)Gat>Aat	p.D459N	P4HA1_ENST00000373008.2_Missense_Mutation_p.D459N|P4HA1_ENST00000263556.3_Missense_Mutation_p.D459N|P4HA1_ENST00000394890.2_Missense_Mutation_p.D459N|P4HA1_ENST00000440381.1_Missense_Mutation_p.D441N|P4HA1_ENST00000412021.2_Missense_Mutation_p.D459N			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	459	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				collagen fibril organization (GO:0030199)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|procollagen-proline 4-dioxygenase complex (GO:0016222)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GCAGACACATCACTCATCTAT	0.353																																					Colon(147;367 2405 2662 52127)	ENST00000412021.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15						c.(1375-1377)Gat>Aat		prolyl 4-hydroxylase, alpha polypeptide I	Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						89.0	85.0	86.0					10																	74770789		2203	4300	6503	SO:0001583	missense	5033					endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	g.chr10:74770789C>T		CCDS7320.1, CCDS41537.1, CCDS44432.1	10q21.3-q23.1	2008-12-09	2008-12-09		ENSG00000122884	ENSG00000122884	1.14.11.2		8546	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(I)"""	176710	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I"""	P4HA		2556027	Standard	NM_001017962		Approved	C-P4Halpha(I)	uc001jtg.3	P13674	OTTHUMG00000018449	ENST00000307116.2:c.1375G>A	10.37:g.74770789C>T	ENSP00000307318:p.Asp459Asn					P4HA1_ENST00000440381.1_Missense_Mutation_p.D441N|P4HA1_ENST00000373008.2_Missense_Mutation_p.D459N|P4HA1_ENST00000394890.2_Missense_Mutation_p.D459N|P4HA1_ENST00000307116.2_Missense_Mutation_p.D459N|P4HA1_ENST00000263556.3_Missense_Mutation_p.D459N	p.D459N	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN			14	1708	-	Prostate(51;0.0198)		459			Fe2OG dioxygenase.		C9JL12|Q15082|Q15083|Q5VSQ5	Missense_Mutation	SNP	ENST00000307116.2	37	c.1375G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.726004	0.96847	.	.	ENSG00000122884	ENST00000307116;ENST00000373008;ENST00000412021;ENST00000394890;ENST00000263556;ENST00000440381	T;T;T;T;T;T	0.57107	0.47;0.5;0.47;0.47;0.5;0.42	5.83	5.83	0.93111	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.71443	0.3340	M	0.69823	2.125	0.80722	D	1	P;P;P	0.45011	0.848;0.828;0.828	P;P;P	0.58577	0.841;0.718;0.718	T	0.72090	-0.4395	10	0.87932	D	0	-19.7994	19.7187	0.96134	0.0:1.0:0.0:0.0	.	441;459;459	C9JL12;Q5VSQ6;P13674	.;.;P4HA1_HUMAN	N	459;459;459;459;459;441	ENSP00000307318:D459N;ENSP00000362099:D459N;ENSP00000411688:D459N;ENSP00000378353:D459N;ENSP00000263556:D459N;ENSP00000414464:D441N	ENSP00000263556:D459N	D	-	1	0	P4HA1	74440795	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.202000	0.77856	2.765000	0.95021	0.555000	0.69702	GAT		0.353	P4HA1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000048601.1	NM_000917		30	387	0	0	0	1	0	30	387				
TERT	7015	broad.mit.edu	37	5	1294328	1294328	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr5:1294328C>T	ENST00000310581.5	-	2	730	c.673G>A	c.(673-675)Ggg>Agg	p.G225R	TERT_ENST00000508104.2_Missense_Mutation_p.G225R|TERT_ENST00000296820.5_Missense_Mutation_p.G225R|TERT_ENST00000334602.6_Missense_Mutation_p.G225R|TERT_ENST00000522877.1_5'Flank	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	225	RNA-interacting domain 1.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	GCACTGCCCCCGCGCCTCCTC	0.746									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													ENST00000310581.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41						c.(673-675)Ggg>Agg		telomerase reverse transcriptase							4.0	6.0	5.0					5																	1294328		2021	3975	5996	SO:0001583	missense	0	TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1294328C>T	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.673G>A	5.37:g.1294328C>T	ENSP00000309572:p.Gly225Arg					TERT_ENST00000508104.2_Missense_Mutation_p.G225R|TERT_ENST00000334602.6_Missense_Mutation_p.G225R|TERT_ENST00000296820.5_Missense_Mutation_p.G225R	p.G225R	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		2	730	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		225			RNA-interacting domain 1.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	c.673G>A	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	C	2.596	-0.294105	0.05568	.	.	ENSG00000164362	ENST00000310581;ENST00000296820;ENST00000334602;ENST00000508104	D;D;D;D	0.96300	-3.97;-3.94;-3.87;-3.94	2.56	0.705	0.18127	.	2.448580	0.01590	N	0.021516	D	0.83658	0.5302	N	0.00246	-1.78	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.80832	-0.1206	10	0.15066	T	0.55	-25.6165	6.4339	0.21813	0.1225:0.5074:0.3702:0.0	.	225;225;225	O14746-3;O14746;Q8NG38	.;TERT_HUMAN;.	R	225	ENSP00000309572:G225R;ENSP00000296820:G225R;ENSP00000334346:G225R;ENSP00000426042:G225R	ENSP00000296820:G225R	G	-	1	0	TERT	1347328	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.063000	0.14410	0.155000	0.19261	-0.384000	0.06662	GGG		0.746	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			7	65	0	0	0	1	0	7	65				
ATR	545	broad.mit.edu	37	3	142218556	142218556	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:142218556C>A	ENST00000350721.4	-	31	5414	c.5293G>T	c.(5293-5295)Gag>Tag	p.E1765*	ATR_ENST00000383101.3_Nonsense_Mutation_p.E1701*	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1765	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCTGTCCACTCGGACCTATTA	0.328								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(5293-5295)Gag>Tag	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							103.0	101.0	102.0					3																	142218556		2203	4300	6503	SO:0001587	stop_gained	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142218556C>A	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.5293G>T	3.37:g.142218556C>A	ENSP00000343741:p.Glu1765*					ATR_ENST00000383101.3_Nonsense_Mutation_p.E1701*	p.E1765*	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			31	5414	-			1765			FAT.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Nonsense_Mutation	SNP	ENST00000350721.4	37	c.5293G>T	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	45	12.012439	0.99627	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	.	.	.	4.95	4.95	0.65309	.	0.170465	0.51477	D	0.000089	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-16.3155	18.1893	0.89802	0.0:1.0:0.0:0.0	.	.	.	.	X	1765;1701	.	ENSP00000343741:E1765X	E	-	1	0	ATR	143701246	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	4.898000	0.63238	2.299000	0.77371	0.655000	0.94253	GAG		0.328	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		48	361	1	0	6.68952e-21	1	7.09089e-21	48	361				
MT-ND5	4540	broad.mit.edu	37	M	13063	13063	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chrM:13063G>A	ENST00000361567.2	+	1	727	c.727G>A	c.(727-729)Gtc>Atc	p.V243I	MT-TR_ENST00000387439.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TH_ENST00000387441.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	243					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						GCCCCACCCCAGTCTCAGCCC	0.547																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(727-729)Gtc>Atc		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001583	missense	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:13063G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.727G>A	M.37:g.13063G>A	ENSP00000354813:p.Val243Ile						p.V243I			P03915	NU5M_HUMAN			1	727	+			243					Q34773|Q8WCY3	Missense_Mutation	SNP	ENST00000361567.2	37	c.727G>A																																																																																					0.547	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		6	7	0	0	0	1	0	6	7				
PTCHD2	57540	broad.mit.edu	37	1	11561569	11561569	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:11561569G>A	ENST00000294484.6	+	2	658	c.520G>A	c.(520-522)Gtc>Atc	p.V174I	PTCHD2_ENST00000389575.3_Missense_Mutation_p.V174I	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	174					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)	p.V391I(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGCCCCCCGCGTCATCCCCGC	0.682																																						ENST00000294484.6																			1	Substitution - Missense(1)	p.V391I(1)	endometrium(1)	NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(520-522)Gtc>Atc		patched domain containing 2							12.0	15.0	14.0					1																	11561569		1907	4110	6017	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11561569G>A	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.520G>A	1.37:g.11561569G>A	ENSP00000294484:p.Val174Ile					PTCHD2_ENST00000389575.3_Missense_Mutation_p.V174I	p.V174I	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	2	658	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	174					Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.520G>A	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	G	1.425	-0.571849	0.03882	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.42513	0.97;0.97	4.9	-7.89	0.01174	.	0.828788	0.10709	N	0.643079	T	0.14356	0.0347	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.10776	-1.0615	10	0.31617	T	0.26	0.6872	2.0702	0.03612	0.2878:0.092:0.1373:0.4829	.	174	Q9P2K9	PTHD2_HUMAN	I	174	ENSP00000294484:V174I;ENSP00000374226:V174I	ENSP00000294484:V174I	V	+	1	0	PTCHD2	11484156	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.515000	0.06290	-2.087000	0.00862	-0.215000	0.12644	GTC		0.682	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		11	126	0	0	0	1	0	11	126				
PF4V1	5197	broad.mit.edu	37	4	74719545	74719545	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr4:74719545C>T	ENST00000226524.3	+	2	320	c.146C>T	c.(145-147)aCc>aTc	p.T49I		NM_002620.2	NP_002611.1	P10720	PF4V_HUMAN	platelet factor 4 variant 1	49					cell chemotaxis (GO:0060326)|immune response (GO:0006955)	extracellular space (GO:0005615)	heparin binding (GO:0008201)			endometrium(1)|liver(2)	3	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TGTGTGAAGACCACCTCCCAG	0.612																																						ENST00000226524.3																			0				endometrium(1)|liver(2)	3						c.(145-147)aCc>aTc		platelet factor 4 variant 1							54.0	54.0	54.0					4																	74719545		2202	4296	6498	SO:0001583	missense	5197				immune response	extracellular region	chemokine activity|heparin binding	g.chr4:74719545C>T	M26167	CCDS3561.1	4q12-q21	2008-08-15			ENSG00000109272	ENSG00000109272			8862	protein-coding gene	gene with protein product		173461				2725510	Standard	NM_002620		Approved	SCYB4V1, CXCL4V1, CXCL4L1	uc003hhg.1	P10720	OTTHUMG00000130177	ENST00000226524.3:c.146C>T	4.37:g.74719545C>T	ENSP00000226524:p.Thr49Ile						p.T49I	NM_002620.2	NP_002611.1	P10720	PF4V_HUMAN	all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		2	320	+	Breast(15;0.00102)		49					A1L4S0	Missense_Mutation	SNP	ENST00000226524.3	37	c.146C>T	CCDS3561.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.796258	0.50208	.	.	ENSG00000109272	ENST00000226524	T	0.05258	3.47	4.12	3.28	0.37604	CXC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.210963	0.43260	D	0.000587	T	0.19167	0.0460	M	0.71036	2.16	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.01613	-1.1312	10	0.46703	T	0.11	.	7.8069	0.29209	0.0:0.8881:0.0:0.1119	.	49	P10720	PF4V_HUMAN	I	49	ENSP00000226524:T49I	ENSP00000226524:T49I	T	+	2	0	PF4V1	74938409	0.975000	0.34042	0.156000	0.22583	0.142000	0.21351	3.506000	0.53364	1.313000	0.45069	0.655000	0.94253	ACC		0.612	PF4V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252495.1			13	83	0	0	0	1	0	13	83				
DCAF12L1	139170	broad.mit.edu	37	X	125685629	125685629	+	Silent	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chrX:125685629G>A	ENST00000371126.1	-	1	1205	c.963C>T	c.(961-963)taC>taT	p.Y321Y		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	321								p.Y321Y(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AGCCCACGGCGTACACAGACA	0.597																																						ENST00000371126.1																			1	Substitution - coding silent(1)	p.Y321Y(1)	large_intestine(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(961-963)taC>taT		DDB1 and CUL4 associated factor 12-like 1							64.0	57.0	60.0					X																	125685629		2203	4300	6503	SO:0001819	synonymous_variant	139170							g.chrX:125685629G>A	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.963C>T	X.37:g.125685629G>A							p.Y321Y	NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN			1	1205	-			321					Q8IYK3	Silent	SNP	ENST00000371126.1	37	c.963C>T	CCDS14610.1																																																																																				0.597	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		5	375	0	0	0	1	0	5	375				
IMPG1	3617	broad.mit.edu	37	6	76751711	76751711	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr6:76751711C>T	ENST00000369950.3	-	2	389	c.200G>A	c.(199-201)cGa>cAa	p.R67Q	IMPG1_ENST00000369963.3_Intron	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TCTTTTTGTTCGATGCTTTGC	0.363																																					Pancreas(37;839 1141 2599 26037)	ENST00000369950.3																			0				breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(199-201)cGa>cAa		interphotoreceptor matrix proteoglycan 1							162.0	154.0	156.0					6																	76751711		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76751711C>T	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.200G>A	6.37:g.76751711C>T	ENSP00000358966:p.Arg67Gln					IMPG1_ENST00000369963.3_Intron	p.R67Q	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN			2	389	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	67						Missense_Mutation	SNP	ENST00000369950.3	37	c.200G>A	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	C	32	5.115017	0.94339	.	.	ENSG00000112706	ENST00000369950	T	0.79554	-1.28	6.07	5.21	0.72293	.	0.125602	0.36591	N	0.002519	D	0.88012	0.6323	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89237	0.3581	9	.	.	.	.	15.5075	0.75753	0.0:0.9339:0.0:0.0661	.	67	Q17R60	IMPG1_HUMAN	Q	67	ENSP00000358966:R67Q	.	R	-	2	0	IMPG1	76808431	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.573000	0.53856	1.581000	0.49865	0.655000	0.94253	CGA		0.363	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		35	459	0	0	0	1	0	35	459				
KIAA1109	84162	broad.mit.edu	37	4	123164205	123164205	+	Missense_Mutation	SNP	T	T	G			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr4:123164205T>G	ENST00000264501.4	+	30	5097	c.4724T>G	c.(4723-4725)cTt>cGt	p.L1575R	KIAA1109_ENST00000455637.1_Missense_Mutation_p.L1575R|KIAA1109_ENST00000388738.3_Missense_Mutation_p.L1575R			Q2LD37	K1109_HUMAN	KIAA1109	1575					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GGCATGCAACTTTCAGGATCA	0.308																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(4723-4725)cTt>cGt		KIAA1109							102.0	100.0	101.0					4																	123164205		1815	4086	5901	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123164205T>G	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.4724T>G	4.37:g.123164205T>G	ENSP00000264501:p.Leu1575Arg					KIAA1109_ENST00000455637.1_Missense_Mutation_p.L1575R|KIAA1109_ENST00000388738.3_Missense_Mutation_p.L1575R	p.L1575R			Q2LD37	K1109_HUMAN			30	5097	+			1575					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.4724T>G	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.6|22.6	4.310599|4.310599	0.81358|0.81358	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000446180|ENST00000264501;ENST00000388738;ENST00000455637	.|T;T;T	.|0.32515	.|2.05;2.05;1.45	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.184226	.|0.22649	.|U	.|0.057348	T|T	0.29458|0.29458	0.0734|0.0734	N|N	0.24115|0.24115	0.695|0.695	0.47276|0.47276	D|D	0.999372|0.999372	.|P;P	.|0.45176	.|0.852;0.567	.|P;B	.|0.45610	.|0.487;0.384	T|T	0.09037|0.09037	-1.0693|-1.0693	5|10	.|0.87932	.|D	.|0	.|.	15.6119|15.6119	0.76727|0.76727	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1574;1575	.|Q2LD37-2;Q2LD37	.|.;K1109_HUMAN	V|R	148|1575	.|ENSP00000264501:L1575R;ENSP00000373390:L1575R;ENSP00000389925:L1575R	.|ENSP00000264501:L1575R	F|L	+|+	1|2	0|0	KIAA1109|KIAA1109	123383655|123383655	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.997000|0.997000	0.91878|0.91878	7.388000|7.388000	0.79795|0.79795	2.083000|2.083000	0.62718|0.62718	0.528000|0.528000	0.53228|0.53228	TTT|CTT		0.308	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		29	412	0	0	0	1	0	29	412				
GPR135	64582	broad.mit.edu	37	14	59930958	59930958	+	Silent	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr14:59930958C>T	ENST00000395116.1	-	1	1102	c.987G>A	c.(985-987)acG>acA	p.T329T		NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	329						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.134)		CGGTGGTGGCCGTGCGCACCT	0.677																																						ENST00000395116.1																			0				breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(985-987)acG>acA		G protein-coupled receptor 135							22.0	23.0	22.0					14																	59930958		2197	4291	6488	SO:0001819	synonymous_variant	64582					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:59930958C>T	AY288418	CCDS9738.1	14q23.1	2012-08-21			ENSG00000181619	ENSG00000181619		"""GPCR / Class A : Orphans"""	19991	protein-coding gene	gene with protein product		607970				14623098	Standard	NM_022571		Approved	HUMNPIIY20, PAFR	uc010apj.3	Q8IZ08	OTTHUMG00000140325	ENST00000395116.1:c.987G>A	14.37:g.59930958C>T							p.T329T	NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.134)	1	1102	-			329					Q7Z604|Q86SM3|Q8NH39	Silent	SNP	ENST00000395116.1	37	c.987G>A	CCDS9738.1	.	.	.	.	.	.	.	.	.	.	c	10.22	1.291528	0.23564	.	.	ENSG00000181619	ENST00000539022	.	.	.	4.31	-6.35	0.01975	.	.	.	.	.	T	0.44074	0.1276	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42548	-0.9445	5	0.23891	T	0.37	-15.0993	5.8628	0.18759	0.1015:0.3092:0.4579:0.1315	.	.	.	.	Q	316	.	ENSP00000444314:R316Q	R	-	2	0	GPR135	59000711	0.000000	0.05858	0.922000	0.36590	0.987000	0.75469	-2.834000	0.00741	-1.210000	0.02627	-0.308000	0.09152	CGG		0.677	GPR135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276941.1	NM_022571		8	157	0	0	0	1	0	8	157				
MUC4	4585	broad.mit.edu	37	3	195508188	195508188	+	Silent	SNP	G	G	A	rs372617756		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:195508188G>A	ENST00000463781.3	-	2	10722	c.10263C>T	c.(10261-10263)caC>caT	p.H3421H	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.H3421H|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.582																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(10261-10263)caC>caT		mucin 4, cell surface associated							27.0	21.0	23.0					3																	195508188		689	1578	2267	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195508188G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.10263C>T	3.37:g.195508188G>A						MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.H3421H	p.H3421H	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	10722	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	189					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.10263C>T	CCDS54700.1																																																																																				0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	16	0	0	0	1	0	3	16				
GPR133	283383	broad.mit.edu	37	12	131621557	131621557	+	Missense_Mutation	SNP	G	G	C			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:131621557G>C	ENST00000261654.5	+	23	2993	c.2434G>C	c.(2434-2436)Gag>Cag	p.E812Q	GPR133_ENST00000535015.1_Missense_Mutation_p.E844Q|GPR133_ENST00000543617.1_Missense_Mutation_p.E331Q|GPR133_ENST00000376682.4_Missense_Mutation_p.E498Q|GPR133_ENST00000540207.1_3'UTR	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	812					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCTGAATTCAGAGGTACGTCC	0.532																																						ENST00000261654.5																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(2434-2436)Gag>Cag		G protein-coupled receptor 133							200.0	168.0	179.0					12																	131621557		2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131621557G>C	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.2434G>C	12.37:g.131621557G>C	ENSP00000261654:p.Glu812Gln					GPR133_ENST00000376682.4_Missense_Mutation_p.E498Q|GPR133_ENST00000543617.1_Missense_Mutation_p.E331Q|GPR133_ENST00000535015.1_Missense_Mutation_p.E844Q|GPR133_ENST00000540207.1_3'UTR	p.E812Q	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	23	2993	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		812					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.2434G>C	CCDS9272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.989595|3.989595	0.74589|0.74589	.|.	.|.	ENSG00000111452|ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000376682;ENST00000543617|ENST00000335486	T;T;T;T|.	0.42131|.	1.23;1.24;0.98;0.98|.	4.23|4.23	4.23|4.23	0.50019|0.50019	GPCR, family 2, secretin-like, conserved site (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.53722|0.53722	0.1814|0.1814	L|L	0.29908|0.29908	0.895|0.895	0.54753|0.54753	D|D	0.999986|0.999986	D;P;P|.	0.54601|.	0.967;0.757;0.877|.	D;B;P|.	0.64595|.	0.927;0.418;0.661|.	T|T	0.50684|0.50684	-0.8799|-0.8799	10|5	0.27082|.	T|.	0.32|.	.|.	14.4411|14.4411	0.67318|0.67318	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	844;165;812|.	B7ZLF7;Q9NSM3;Q6QNK2|.	.;.;GP133_HUMAN|.	Q|H	812;844;498;331|165	ENSP00000261654:E812Q;ENSP00000444425:E844Q;ENSP00000365872:E498Q;ENSP00000438021:E331Q|.	ENSP00000261654:E812Q|.	E|Q	+|+	1|3	0|2	GPR133|GPR133	130187510|130187510	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.845000|0.845000	0.48019|0.48019	5.786000|5.786000	0.69006|0.69006	2.069000|2.069000	0.61940|0.61940	0.561000|0.561000	0.74099|0.74099	GAG|CAG		0.532	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		13	260	0	0	0	1	0	13	260				
SSC4D	136853	broad.mit.edu	37	7	76028102	76028102	+	Missense_Mutation	SNP	G	G	A	rs376295317	byFrequency	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr7:76028102G>A	ENST00000275560.3	-	5	835	c.488C>T	c.(487-489)aCg>aTg	p.T163M	ZP3_ENST00000336517.4_Intron	NM_080744.1	NP_542782.1												p.T163M(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						TGGGGGCTGCGTTGGCAAGAA	0.507													G|||	2	0.000399361	0.0	0.0	5008	,	,		18746	0.0		0.0	False		,,,				2504	0.002					ENST00000275560.3																			1	Substitution - Missense(1)	p.T163M(1)	endometrium(1)	autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(487-489)aCg>aTg		scavenger receptor cysteine rich domain containing, group B (4 domains)		G	,MET/THR	0,4406		0,0,2203	241.0	226.0	231.0		,488	3.5	1.0	7		231	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	ZP3,SRCRB4D	NM_007155.5,NM_080744.1	,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,possibly-damaging	,163/576	76028102	1,13005	2203	4300	6503	SO:0001583	missense	136853					extracellular region|membrane	scavenger receptor activity	g.chr7:76028102G>A																												ENST00000275560.3:c.488C>T	7.37:g.76028102G>A	ENSP00000275560:p.Thr163Met					ZP3_ENST00000336517.4_Intron	p.T163M	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN			5	835	-			163						Missense_Mutation	SNP	ENST00000275560.3	37	c.488C>T	CCDS5585.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079291	0.55753	0.0	1.16E-4	ENSG00000146700	ENST00000275560	T	0.52295	0.67	3.46	3.46	0.39613	Speract/scavenger receptor-related (1);	2.688840	0.01849	N	0.035814	T	0.56934	0.2019	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	P	0.49528	0.614	T	0.56842	-0.7912	10	0.33141	T	0.24	.	10.7933	0.46445	0.0:0.0:1.0:0.0	.	163	Q8WTU2	SRB4D_HUMAN	M	163	ENSP00000275560:T163M	ENSP00000275560:T163M	T	-	2	0	SRCRB4D	75866038	0.997000	0.39634	0.955000	0.39395	0.914000	0.54420	4.022000	0.57203	2.268000	0.75426	0.306000	0.20318	ACG		0.507	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253001.3			60	822	0	0	0	1	0	60	822				
SYT16	83851	broad.mit.edu	37	14	62542083	62542083	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr14:62542083G>A	ENST00000430451.2	+	3	1164	c.967G>A	c.(967-969)Gac>Aac	p.D323N	SYT16_ENST00000446982.2_Missense_Mutation_p.D323N|RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	323					exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CTATGCCACTGACAGCTCCTC	0.498																																						ENST00000430451.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35						c.(967-969)Gac>Aac		synaptotagmin XVI							133.0	130.0	131.0					14																	62542083		1910	4115	6025	SO:0001583	missense	83851							g.chr14:62542083G>A	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.967G>A	14.37:g.62542083G>A	ENSP00000394700:p.Asp323Asn					RP11-355I22.5_ENST00000553990.1_lincRNA|SYT16_ENST00000446982.2_Missense_Mutation_p.D323N	p.D323N	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	3	1164	+			323					B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	ENST00000430451.2	37	c.967G>A	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.587356	0.86851	.	.	ENSG00000139973	ENST00000446982;ENST00000430451	T;T	0.53857	0.6;3.46	5.41	4.5	0.54988	.	.	.	.	.	T	0.68348	0.2991	L	0.61218	1.895	0.48696	D	0.99969	D;P	0.71674	0.998;0.955	D;P	0.65874	0.939;0.616	T	0.72083	-0.4397	9	0.59425	D	0.04	-10.5917	15.9346	0.79691	0.0:0.1397:0.8603:0.0	.	323;323	B4DZH2;Q17RD7	.;SYT16_HUMAN	N	323	ENSP00000388023:D323N;ENSP00000394700:D323N	ENSP00000394700:D323N	D	+	1	0	SYT16	61611836	1.000000	0.71417	0.989000	0.46669	0.996000	0.88848	6.307000	0.72815	1.487000	0.48415	0.655000	0.94253	GAC		0.498	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		40	587	0	0	0	1	0	40	587				
GPR133	283383	broad.mit.edu	37	12	131621523	131621523	+	Silent	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:131621523G>A	ENST00000261654.5	+	23	2959	c.2400G>A	c.(2398-2400)ctG>ctA	p.L800L	GPR133_ENST00000535015.1_Silent_p.L832L|GPR133_ENST00000543617.1_Silent_p.L319L|GPR133_ENST00000376682.4_Silent_p.L486L|GPR133_ENST00000540207.1_3'UTR	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	800					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCCAGGGACTGTTCATATTCC	0.527																																						ENST00000261654.5																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(2398-2400)ctG>ctA		G protein-coupled receptor 133							269.0	217.0	235.0					12																	131621523		2203	4300	6503	SO:0001819	synonymous_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131621523G>A	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.2400G>A	12.37:g.131621523G>A						GPR133_ENST00000376682.4_Silent_p.L486L|GPR133_ENST00000543617.1_Silent_p.L319L|GPR133_ENST00000535015.1_Silent_p.L832L|GPR133_ENST00000540207.1_3'UTR	p.L800L	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	23	2959	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		800					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	c.2400G>A	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	G	6.887	0.533108	0.13188	.	.	ENSG00000111452	ENST00000335486	.	.	.	4.23	-7.58	0.01313	.	.	.	.	.	T	0.45657	0.1353	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49072	-0.8977	4	.	.	.	.	6.2202	0.20677	0.0:0.2893:0.2457:0.4651	.	.	.	.	Y	154	.	.	C	+	2	0	GPR133	130187476	0.305000	0.24481	0.166000	0.22797	0.868000	0.49771	-0.870000	0.04228	-1.565000	0.01676	-0.314000	0.08810	TGT		0.527	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		13	282	0	0	0	1	0	13	282				
ZFHX4	79776	broad.mit.edu	37	8	77767609	77767609	+	Missense_Mutation	SNP	G	G	A	rs370973272		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr8:77767609G>A	ENST00000521891.2	+	10	8900	c.8452G>A	c.(8452-8454)Gag>Aag	p.E2818K	ZFHX4_ENST00000518282.1_Missense_Mutation_p.E2792K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E2773K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E2773K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2773					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CACCGGAGACGAGGGAAACAC	0.478										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(8452-8454)Gag>Aag		zinc finger homeobox 4							52.0	52.0	52.0					8																	77767609		1954	4151	6105	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767609G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8452G>A	8.37:g.77767609G>A	ENSP00000430497:p.Glu2818Lys	HNSCC(33;0.089)				ZFHX4_ENST00000455469.2_Missense_Mutation_p.E2773K|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E2792K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E2773K	p.E2818K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8900	+			2773					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.8452G>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408350	0.42715	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.60797	0.16;0.23;0.2;0.19	4.98	4.98	0.66077	.	0.000000	0.44688	U	0.000422	T	0.72827	0.3509	L	0.55990	1.75	0.80722	D	1	D;D;D	0.71674	0.996;0.998;0.998	D;D;D	0.79784	0.984;0.993;0.993	T	0.74881	-0.3513	10	0.66056	D	0.02	.	18.4359	0.90646	0.0:0.0:1.0:0.0	.	2773;2773;2818	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	K	2818;2802;2773;2773;2792	ENSP00000430497:E2818K;ENSP00000399605:E2773K;ENSP00000050961:E2773K;ENSP00000430848:E2792K	ENSP00000050961:E2773K	E	+	1	0	ZFHX4	77930164	1.000000	0.71417	0.847000	0.33407	0.187000	0.23431	9.657000	0.98554	2.588000	0.87417	0.561000	0.74099	GAG		0.478	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		32	180	0	0	0	1	0	32	180				
SRGAP3	9901	broad.mit.edu	37	3	9036080	9036080	+	Silent	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:9036080C>T	ENST00000383836.3	-	19	2782	c.2355G>A	c.(2353-2355)cgG>cgA	p.R785R	SRGAP3_ENST00000360413.3_Silent_p.R761R	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	785					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CGCCGTTGTGCCGGCCCTCCC	0.567			T	RAF1	pilocytic astrocytoma																																	ENST00000383836.3				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2353-2355)cgG>cgA		SLIT-ROBO Rho GTPase activating protein 3							85.0	85.0	85.0					3																	9036080		2203	4300	6503	SO:0001819	synonymous_variant	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9036080C>T	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.2355G>A	3.37:g.9036080C>T						SRGAP3_ENST00000360413.3_Silent_p.R761R	p.R785R	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	19	2782	-			785					Q8IX13|Q8IZV8	Silent	SNP	ENST00000383836.3	37	c.2355G>A	CCDS2572.1																																																																																				0.567	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			6	555	0	0	0	1	0	6	555				
RHOA	387	broad.mit.edu	37	3	49395482	49395482	+	IGR	SNP	G	G	C	rs201944086	byFrequency	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:49395482G>C	ENST00000418115.1	-	0	2031				GPX1_ENST00000419349.1_Missense_Mutation_p.P77R|GPX1_ENST00000419783.1_Missense_Mutation_p.P77R|GPX1_ENST00000496791.1_5'UTR	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A						actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CTGGTTGCACGGGAAGCCGAG	0.726																																						ENST00000419783.1																			0				breast(1)|large_intestine(2)|lung(1)	4						c.(229-231)cCg>cGg		glutathione peroxidase 1	Glutathione(DB00143)						11.0	14.0	13.0					3																	49395482		1848	4061	5909	SO:0001628	intergenic_variant	2876				anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding	g.chr3:49395482G>C	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838		3.37:g.49395482G>C						GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419349.1_Missense_Mutation_p.P77R	p.P77R	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	551	-			77					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	c.230C>G	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	G	36	5.745728	0.96882	.	.	ENSG00000233276	ENST00000419783;ENST00000419349	T;T	0.25085	1.82;1.82	5.88	5.88	0.94601	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.63070	0.2480	M	0.93150	3.385	0.80722	D	1	D;D	0.71674	0.998;0.988	D;P	0.68483	0.958;0.891	T	0.72279	-0.4340	10	0.87932	D	0	.	18.8152	0.92075	0.0:0.0:1.0:0.0	.	77;77	E9PAS1;P07203	.;GPX1_HUMAN	R	77	ENSP00000407375:P77R;ENSP00000391316:P77R	ENSP00000391316:P77R	P	-	2	0	GPX1	49370486	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.875000	0.87205	2.788000	0.95919	0.555000	0.69702	CCG		0.726	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		4	159	0	0	0	1	0	4	159				
USP7	7874	broad.mit.edu	37	16	9017122	9017122	+	Silent	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr16:9017122G>A	ENST00000344836.4	-	3	531	c.333C>T	c.(331-333)caC>caT	p.H111H	USP7_ENST00000566224.1_5'Flank|USP7_ENST00000381886.4_Silent_p.H95H|USP7_ENST00000535863.1_Silent_p.H12H	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	111	Interaction with TSPYL5.|Interaction with p53/TP53, MDM2 and EBNA1.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Necessary for nuclear localization.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CGCTTTTTTGGTGTGGTCTGT	0.453																																						ENST00000344836.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						c.(331-333)caC>caT		ubiquitin specific peptidase 7 (herpes virus-associated)							183.0	173.0	177.0					16																	9017122		2197	4300	6497	SO:0001819	synonymous_variant	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:9017122G>A	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.333C>T	16.37:g.9017122G>A						USP7_ENST00000381886.4_Silent_p.H95H|USP7_ENST00000535863.1_Silent_p.H12H	p.H111H	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN			3	531	-			111			Interaction with TSPYL5.|Interaction with p53/TP53, MDM2 and EBNA1.|MATH.|Necessary for nuclear localization.		A6NMY8|B7Z815|H0Y3G8	Silent	SNP	ENST00000344836.4	37	c.333C>T	CCDS32385.1																																																																																				0.453	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			6	489	0	0	0	1	0	6	489				
DMRT3	58524	broad.mit.edu	37	9	990557	990557	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990557C>T	ENST00000190165.2	+	2	1009	c.971C>T	c.(970-972)tCg>tTg	p.S324L		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	324					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TACCCCATCTCGTCTTCCAAA	0.557																																						ENST00000190165.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(970-972)tCg>tTg		doublesex and mab-3 related transcription factor 3							123.0	110.0	114.0					9																	990557		2203	4300	6503	SO:0001583	missense	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990557C>T	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.971C>T	9.37:g.990557C>T	ENSP00000190165:p.Ser324Leu						p.S324L	NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	2	1009	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	324					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	c.971C>T	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332984	0.81801	.	.	ENSG00000064218	ENST00000190165	T	0.25414	1.8	4.95	4.95	0.65309	.	0.198940	0.45126	D	0.000386	T	0.42154	0.1190	L	0.32530	0.975	0.58432	D	0.999998	D	0.89917	1.0	D	0.79108	0.992	T	0.36625	-0.9740	10	0.62326	D	0.03	-34.3234	18.2198	0.89898	0.0:1.0:0.0:0.0	.	324	Q9NQL9	DMRT3_HUMAN	L	324	ENSP00000190165:S324L	ENSP00000190165:S324L	S	+	2	0	DMRT3	980557	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.095000	0.76952	2.308000	0.77769	0.561000	0.74099	TCG		0.557	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		15	336	0	0	0	1	0	15	336				
DMRT3	58524	broad.mit.edu	37	9	990923	990923	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990923C>T	ENST00000190165.2	+	2	1375	c.1337C>T	c.(1336-1338)tCa>tTa	p.S446L		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	446					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		CCATTTGTGTCAAAGCAGTCC	0.527																																						ENST00000190165.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1336-1338)tCa>tTa		doublesex and mab-3 related transcription factor 3							91.0	89.0	90.0					9																	990923		2203	4300	6503	SO:0001583	missense	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990923C>T	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.1337C>T	9.37:g.990923C>T	ENSP00000190165:p.Ser446Leu						p.S446L	NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	2	1375	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	446					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	c.1337C>T	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.282623	0.40394	.	.	ENSG00000064218	ENST00000190165	T	0.24723	1.84	5.22	5.22	0.72569	.	0.558234	0.17930	N	0.157210	T	0.14743	0.0356	N	0.08118	0	0.24841	N	0.992468	B	0.17038	0.02	B	0.14023	0.01	T	0.13255	-1.0516	10	0.51188	T	0.08	-2.7083	12.1775	0.54194	0.0:0.922:0.0:0.078	.	446	Q9NQL9	DMRT3_HUMAN	L	446	ENSP00000190165:S446L	ENSP00000190165:S446L	S	+	2	0	DMRT3	980923	0.995000	0.38212	0.061000	0.19648	0.891000	0.51852	4.428000	0.59894	2.424000	0.82194	0.655000	0.94253	TCA		0.527	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		32	392	0	0	0	1	0	32	392				
TP53	7157	broad.mit.edu	37	17	7578475	7578475	+	Missense_Mutation	SNP	G	G	A	rs137852790|rs137852791|rs587782705		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:7578475G>A	ENST00000269305.4	-	5	644	c.455C>T	c.(454-456)cCg>cTg	p.P152L	TP53_ENST00000413465.2_Missense_Mutation_p.P152L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.P152L|TP53_ENST00000420246.2_Missense_Mutation_p.P152L|TP53_ENST00000455263.2_Missense_Mutation_p.P152L|TP53_ENST00000445888.2_Missense_Mutation_p.P152L	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	152	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1868473}.|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9450901}.|P -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P152L(66)|p.P152R(8)|p.0?(8)|p.T150fs*16(6)|p.?(5)|p.P153fs*28(5)|p.P152fs*18(5)|p.P152fs*14(5)|p.P152Q(4)|p.P59L(2)|p.P20L(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P59R(1)|p.P20R(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P152fs*27(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.T18fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGTGCCGGGCGGGGGTGTGGA	0.612		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		132	Substitution - Missense(84)|Deletion - Frameshift(25)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)	p.P152L(66)|p.P152R(8)|p.0?(8)|p.T150fs*16(6)|p.?(5)|p.P153fs*28(5)|p.P152fs*18(5)|p.P152fs*14(5)|p.P152Q(4)|p.P59L(2)|p.P20L(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P59R(1)|p.P20R(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P152fs*27(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.T18fs*16(1)	large_intestine(22)|central_nervous_system(18)|upper_aerodigestive_tract(15)|oesophagus(10)|skin(9)|haematopoietic_and_lymphoid_tissue(8)|ovary(8)|prostate(8)|urinary_tract(7)|stomach(6)|bone(5)|breast(4)|lung(3)|liver(3)|vulva(2)|soft_tissue(2)|thyroid(1)|adrenal_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM941327	TP53	M		c.(454-456)cCg>cTg	Other conserved DNA damage response genes	tumor protein p53							51.0	52.0	52.0					17																	7578475		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578475G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.455C>T	17.37:g.7578475G>A	ENSP00000269305:p.Pro152Leu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.P152L|TP53_ENST00000359597.4_Missense_Mutation_p.P152L|TP53_ENST00000445888.2_Missense_Mutation_p.P152L|TP53_ENST00000455263.2_Missense_Mutation_p.P152L|TP53_ENST00000413465.2_Missense_Mutation_p.P152L	p.P152L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	587	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	152		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.455C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.796249	0.70567	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99885	-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99904	0.9954	M	0.91768	3.24	0.80722	D	1	P;P;D;D;D;P;D	0.89917	0.95;0.94;1.0;0.991;0.99;0.951;0.968	P;P;D;P;D;P;B	0.79108	0.53;0.774;0.992;0.561;0.91;0.812;0.377	D	0.96418	0.9309	10	0.87932	D	0	-5.4688	17.4784	0.87667	0.0:0.0:1.0:0.0	.	113;152;152;59;152;152;152	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	152;152;152;152;152;152;141;59;20;59;20;152	ENSP00000410739:P152L;ENSP00000352610:P152L;ENSP00000269305:P152L;ENSP00000398846:P152L;ENSP00000391127:P152L;ENSP00000391478:P152L;ENSP00000425104:P20L;ENSP00000423862:P59L;ENSP00000424104:P152L	ENSP00000269305:P152L	P	-	2	0	TP53	7519200	1.000000	0.71417	0.940000	0.37924	0.022000	0.10575	7.901000	0.87382	2.804000	0.96469	0.655000	0.94253	CCG		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		45	233	0	0	0	1	0	45	233				
SDK2	54549	broad.mit.edu	37	17	71382685	71382685	+	Missense_Mutation	SNP	A	A	G			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:71382685A>G	ENST00000392650.3	-	31	4397	c.4397T>C	c.(4396-4398)cTg>cCg	p.L1466P	SDK2_ENST00000388726.3_Missense_Mutation_p.L1466P	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1466	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GAAGGGCTTCAGCCTGTAGGG	0.592																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(4396-4398)cTg>cCg		sidekick cell adhesion molecule 2							53.0	39.0	44.0					17																	71382685		2190	4243	6433	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71382685A>G	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.4397T>C	17.37:g.71382685A>G	ENSP00000376421:p.Leu1466Pro					SDK2_ENST00000388726.3_Missense_Mutation_p.L1466P	p.L1466P	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			31	4397	-			1466			Fibronectin type-III 9.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.4397T>C	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	A	18.54	3.646124	0.67358	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	D;D;D	0.85171	-1.95;-1.95;-1.95	5.08	5.08	0.68730	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.073886	0.56097	D	0.000028	D	0.95708	0.8604	H	0.99312	4.51	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.991	D;D;D	0.76575	0.988;0.988;0.979	D	0.97515	1.0069	10	0.87932	D	0	.	14.523	0.67867	1.0:0.0:0.0:0.0	.	1466;1466;1466	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	P	1090;1466;1466;642;1466	ENSP00000376421:L1466P;ENSP00000373378:L1466P;ENSP00000407098:L642P	ENSP00000324967:L1466P	L	-	2	0	SDK2	68894280	1.000000	0.71417	0.999000	0.59377	0.550000	0.35303	9.246000	0.95438	1.923000	0.55706	0.496000	0.49642	CTG		0.592	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		2	11	0	0	0	1	0	2	11				
ACAN	176	broad.mit.edu	37	15	89402162	89402162	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr15:89402162G>A	ENST00000561243.1	+	11	6346	c.6346G>A	c.(6346-6348)Gcc>Acc	p.A2116T	ACAN_ENST00000352105.7_Missense_Mutation_p.A2116T|ACAN_ENST00000439576.2_Missense_Mutation_p.A2116T|ACAN_ENST00000559004.1_Missense_Mutation_p.A2116T			P16112	PGCA_HUMAN	aggrecan	2001	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGCATCTGCCGCCCCTGAGGC	0.562																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(6346-6348)Gcc>Acc		aggrecan							45.0	47.0	47.0					15																	89402162		1908	4116	6024	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89402162G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.6346G>A	15.37:g.89402162G>A	ENSP00000453342:p.Ala2116Thr					ACAN_ENST00000352105.7_Missense_Mutation_p.A2116T|ACAN_ENST00000561243.1_Missense_Mutation_p.A2116T|ACAN_ENST00000559004.1_Missense_Mutation_p.A2116T	p.A2116T	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	6720	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		2116					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.6346G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	4.445	0.082406	0.08533	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02197	4.61;4.4	5.18	3.18	0.36537	.	0.000000	0.32503	N	0.006010	T	0.06005	0.0156	M	0.68317	2.08	0.09310	N	1	D;D	0.76494	0.998;0.999	P;P	0.60789	0.794;0.879	T	0.28964	-1.0027	10	0.20046	T	0.44	-7.8812	4.7799	0.13197	0.1896:0.1793:0.6311:0.0	.	2116;2116	E7ENV9;E7EX88	.;.	T	2116;2116;2002	ENSP00000387356:A2116T;ENSP00000341615:A2116T	ENSP00000268134:A2002T	A	+	1	0	ACAN	87203166	0.000000	0.05858	0.092000	0.20876	0.011000	0.07611	-0.226000	0.09139	1.170000	0.42753	0.555000	0.69702	GCC		0.562	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		5	334	0	0	0	1	0	5	334				
DMRT3	58524	broad.mit.edu	37	9	990581	990581	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990581C>T	ENST00000190165.2	+	2	1033	c.995C>T	c.(994-996)tCa>tTa	p.S332L		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	332					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TCTGTGGGATCAGCCTTTCGA	0.572																																						ENST00000190165.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(994-996)tCa>tTa		doublesex and mab-3 related transcription factor 3							116.0	105.0	109.0					9																	990581		2203	4300	6503	SO:0001583	missense	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990581C>T	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.995C>T	9.37:g.990581C>T	ENSP00000190165:p.Ser332Leu						p.S332L	NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	2	1033	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	332					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	c.995C>T	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.360166	0.61403	.	.	ENSG00000064218	ENST00000190165	T	0.26223	1.75	4.95	4.95	0.65309	.	0.075406	0.56097	D	0.000040	T	0.24509	0.0594	L	0.32530	0.975	0.54753	D	0.999983	D	0.53151	0.958	B	0.42386	0.386	T	0.03202	-1.1061	10	0.51188	T	0.08	-22.4322	18.2198	0.89898	0.0:1.0:0.0:0.0	.	332	Q9NQL9	DMRT3_HUMAN	L	332	ENSP00000190165:S332L	ENSP00000190165:S332L	S	+	2	0	DMRT3	980581	1.000000	0.71417	0.254000	0.24359	0.960000	0.62799	5.393000	0.66279	2.308000	0.77769	0.561000	0.74099	TCA		0.572	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		16	377	0	0	0	1	0	16	377				
ZC3H4	23211	broad.mit.edu	37	19	47570533	47570533	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr19:47570533C>T	ENST00000253048.5	-	15	3029	c.2992G>A	c.(2992-2994)Gtg>Atg	p.V998M	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	998							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GCCGCGGGCACGGGGGGCACT	0.741																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(2992-2994)Gtg>Atg		zinc finger CCCH-type containing 4							32.0	39.0	37.0					19																	47570533		1994	4125	6119	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47570533C>T	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2992G>A	19.37:g.47570533C>T	ENSP00000253048:p.Val998Met					ZC3H4_ENST00000594019.1_5'UTR	p.V998M	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	15	3029	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	998					Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.2992G>A	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.772652	0.31411	.	.	ENSG00000130749	ENST00000253048	T	0.21031	2.03	5.02	3.92	0.45320	.	0.646346	0.15558	N	0.256081	T	0.24812	0.0602	N	0.22421	0.69	0.09310	N	1	D	0.71674	0.998	P	0.56788	0.806	T	0.03818	-1.1001	10	0.72032	D	0.01	.	10.2675	0.43464	0.1475:0.7089:0.1436:0.0	.	998	Q9UPT8	ZC3H4_HUMAN	M	998	ENSP00000253048:V998M	ENSP00000253048:V998M	V	-	1	0	ZC3H4	52262373	0.983000	0.35010	0.117000	0.21633	0.212000	0.24457	2.589000	0.46145	2.494000	0.84150	0.563000	0.77884	GTG		0.741	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			36	450	0	0	0	1	0	36	450				
ABCG5	64240	broad.mit.edu	37	2	44055164	44055164	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:44055164G>A	ENST00000260645.1	-	5	731	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W	ABCG5_ENST00000543989.1_5'UTR|ABCG5_ENST00000405322.1_Missense_Mutation_p.R117W	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	198	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	ACCCGGCGCCGCTCACCCGTG	0.597																																						ENST00000405322.1																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(349-351)Cgg>Tgg		ATP-binding cassette, sub-family G (WHITE), member 5							50.0	47.0	48.0					2																	44055164		2203	4300	6503	SO:0001583	missense	64240				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44055164G>A	T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"""ATP binding cassette transporters / subfamily G"""	13886	protein-coding gene	gene with protein product	"""sterolin 1"""	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.592C>T	2.37:g.44055164G>A	ENSP00000260645:p.Arg198Trp					ABCG5_ENST00000543989.1_5'UTR|ABCG5_ENST00000260645.1_Missense_Mutation_p.R198W	p.R117W			Q9H222	ABCG5_HUMAN			4	1245	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	198			ABC transporter.		Q2T9G2|Q96QZ2|Q96QZ3	Missense_Mutation	SNP	ENST00000260645.1	37	c.349C>T	CCDS1814.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.788431	0.70337	.	.	ENSG00000138075	ENST00000260645;ENST00000405322	D;D	0.94758	-3.51;-3.51	5.51	1.04	0.20106	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.97377	0.9142	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97680	1.0172	10	0.87932	D	0	.	15.1209	0.72441	0.0:0.0:0.22:0.78	.	117;198	E7EX35;Q9H222	.;ABCG5_HUMAN	W	198;117	ENSP00000260645:R198W;ENSP00000384513:R117W	ENSP00000260645:R198W	R	-	1	2	ABCG5	43908668	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	2.290000	0.43531	0.247000	0.21414	-0.152000	0.13540	CGG		0.597	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1	NM_022436		14	133	0	0	0	1	0	14	133				
SCN8A	6334	broad.mit.edu	37	12	52200183	52200183	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:52200183G>A	ENST00000354534.6	+	27	5091	c.4913G>A	c.(4912-4914)cGt>cAt	p.R1638H	SCN8A_ENST00000545061.1_Missense_Mutation_p.R1597H	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1638					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	AAAGGGATTCGTACCCTGCTC	0.488																																						ENST00000354534.5																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(4912-4914)cGt>cAt		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						173.0	182.0	179.0					12																	52200183		2189	4297	6486	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52200183G>A	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.4913G>A	12.37:g.52200183G>A	ENSP00000346534:p.Arg1638His					SCN8A_ENST00000545061.1_Missense_Mutation_p.R1597H	p.R1638H	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	27	5091	+			1638					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.4913G>A	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.342154	0.81911	.	.	ENSG00000196876	ENST00000354534;ENST00000545061	D;D	0.98889	-5.21;-5.21	5.31	5.31	0.75309	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99450	0.9805	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98503	1.0615	10	0.87932	D	0	.	19.5591	0.95366	0.0:0.0:1.0:0.0	.	1638	Q9UQD0	SCN8A_HUMAN	H	1638;1597	ENSP00000346534:R1638H;ENSP00000440360:R1597H	ENSP00000346534:R1638H	R	+	2	0	SCN8A	50486450	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.657000	0.98554	2.937000	0.99478	0.650000	0.86243	CGT		0.488	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		13	619	0	0	0	1	0	13	619				
C17orf59	54785	broad.mit.edu	37	17	8092931	8092931	+	Missense_Mutation	SNP	G	G	C			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:8092931G>C	ENST00000389017.4	-	1	633	c.528C>G	c.(526-528)tgC>tgG	p.C176W	MIR3676_ENST00000579470.1_RNA	NM_017622.2	NP_060092.2	Q96GS4	CQ059_HUMAN	chromosome 17 open reading frame 59	176										large_intestine(2)|lung(3)|urinary_tract(1)	6						CGGCGCCACCGCACGCCTCGC	0.736																																						ENST00000389017.4																			0				large_intestine(2)|lung(3)|urinary_tract(1)	6						c.(526-528)tgC>tgG		chromosome 17 open reading frame 59							9.0	11.0	10.0					17																	8092931		2167	4217	6384	SO:0001583	missense	54785							g.chr17:8092931G>C	BC018880	CCDS11133.2	17p13.1	2005-12-16			ENSG00000196544	ENSG00000196544			25939	protein-coding gene	gene with protein product						12477932	Standard	NM_017622		Approved	FLJ20014	uc010vut.2	Q96GS4	OTTHUMG00000153930	ENST00000389017.4:c.528C>G	17.37:g.8092931G>C	ENSP00000373669:p.Cys176Trp						p.C176W	NM_017622.2	NP_060092.2	Q96GS4	CQ059_HUMAN			1	633	-			176					Q53HS4|Q9NXW8	Missense_Mutation	SNP	ENST00000389017.4	37	c.528C>G	CCDS11133.2	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936469	0.52972	.	.	ENSG00000196544	ENST00000389017	.	.	.	4.83	1.63	0.23807	.	0.181301	0.48767	D	0.000164	T	0.47525	0.1450	L	0.27053	0.805	0.58432	D	0.999998	D	0.64830	0.994	P	0.56127	0.792	T	0.43814	-0.9368	9	0.87932	D	0	-13.6498	6.3485	0.21363	0.3242:0.0:0.6758:0.0	.	176	Q96GS4	CQ059_HUMAN	W	176	.	ENSP00000373669:C176W	C	-	3	2	C17orf59	8033656	1.000000	0.71417	0.926000	0.36857	0.930000	0.56654	0.859000	0.27858	0.212000	0.20703	-0.367000	0.07326	TGC		0.736	C17orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333072.1	NM_017622		27	96	0	0	0	1	0	27	96				
ABCB4	5244	broad.mit.edu	37	7	87035608	87035608	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr7:87035608G>A	ENST00000265723.4	-	26	3614	c.3503C>T	c.(3502-3504)cCc>cTc	p.P1168L	ABCB4_ENST00000453593.1_Missense_Mutation_p.P1114L|ABCB4_ENST00000545634.1_Missense_Mutation_p.P1161L|ABCB4_ENST00000358400.3_Missense_Mutation_p.P1114L|ABCB4_ENST00000359206.3_Missense_Mutation_p.P1161L	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1168	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.		P -> S (in GBD1). {ECO:0000269|PubMed:11313316, ECO:0000269|PubMed:12891548}.		cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	ACTTACGTGGGGTAACGTCTC	0.398																																						ENST00000265723.4																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(3502-3504)cCc>cTc		ATP-binding cassette, sub-family B (MDR/TAP), member 4							131.0	124.0	126.0					7																	87035608		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87035608G>A	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.3503C>T	7.37:g.87035608G>A	ENSP00000265723:p.Pro1168Leu					ABCB4_ENST00000453593.1_Missense_Mutation_p.P1114L|ABCB4_ENST00000359206.3_Missense_Mutation_p.P1161L|ABCB4_ENST00000358400.3_Missense_Mutation_p.P1114L|ABCB4_ENST00000545634.1_Missense_Mutation_p.P1161L	p.P1168L	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN			26	3614	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		1168		P -> S (in GBD1).	ABC transporter 2.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.3503C>T	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771837	0.69992	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.92397	-3.03;-3.03;-3.03;-3.03;-3.03	5.48	5.48	0.80851	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.96134	0.8740	M	0.77820	2.39	0.80722	D	1	D;P;P	0.76494	0.999;0.932;0.945	D;P;D	0.74348	0.983;0.878;0.926	D	0.96163	0.9117	10	0.87932	D	0	-12.8072	19.7602	0.96311	0.0:0.0:1.0:0.0	.	1114;1161;1168	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	L	1161;1114;1168;1114;1161	ENSP00000352135:P1161L;ENSP00000351172:P1114L;ENSP00000265723:P1168L;ENSP00000392983:P1114L;ENSP00000437465:P1161L	ENSP00000265723:P1168L	P	-	2	0	ABCB4	86873544	1.000000	0.71417	0.907000	0.35723	0.149000	0.21700	9.677000	0.98645	2.756000	0.94617	0.557000	0.71058	CCC		0.398	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		9	719	0	0	0	1	0	9	719				
SMO	6608	broad.mit.edu	37	7	128850261	128850261	+	Missense_Mutation	SNP	G	G	T	rs267601281		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr7:128850261G>T	ENST00000249373.3	+	9	1804	c.1524G>T	c.(1522-1524)gaG>gaT	p.E508D	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	508					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	CTGACTGTGAGATCAAGAATC	0.552			Mis		skin basal cell						OREG0018305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000249373.3				Dom	yes		7	7q31-q32	6608	Mis	smoothened homolog (Drosophila)			E			skin basal cell		0				biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(1522-1524)gaG>gaT		smoothened, frizzled family receptor							125.0	108.0	114.0					7																	128850261		2203	4300	6503	SO:0001583	missense	6608				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:128850261G>T	U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"""GPCR / Class F : Frizzled receptors"""	11119	protein-coding gene	gene with protein product	"""frizzled family member 11"""	601500	"""smoothened (Drosophila) homolog"", ""smoothened homolog (Drosophila)"", ""smoothened, seven transmembrane spanning receptor"", ""smoothened, frizzled family receptor"""	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.1524G>T	7.37:g.128850261G>T	ENSP00000249373:p.Glu508Asp		OREG0018305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1568	RP11-286H14.8_ENST00000466717.1_RNA	p.E508D	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN			9	1804	+			508					A4D1K5	Missense_Mutation	SNP	ENST00000249373.3	37	c.1524G>T	CCDS5811.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.507446	0.44558	.	.	ENSG00000128602	ENST00000249373	T	0.79141	-1.24	5.73	2.71	0.32032	.	0.199087	0.53938	D	0.000060	T	0.66645	0.2810	L	0.28115	0.83	0.41067	D	0.985423	B;P	0.39576	0.425;0.679	B;B	0.44315	0.315;0.446	T	0.57441	-0.7811	10	0.25751	T	0.34	.	7.9167	0.29822	0.1061:0.0:0.7622:0.1317	.	508;508	A4D1K5;Q99835	.;SMO_HUMAN	D	508	ENSP00000249373:E508D	ENSP00000249373:E508D	E	+	3	2	SMO	128637497	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.677000	0.54619	0.250000	0.21479	0.511000	0.50034	GAG		0.552	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1	NM_005631		74	378	1	0	3.31162e-33	1	3.53387e-33	74	378				
ATP4A	495	broad.mit.edu	37	19	36050067	36050067	+	Silent	SNP	G	G	C			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr19:36050067G>C	ENST00000262623.3	-	8	1111	c.1083C>G	c.(1081-1083)cgC>cgG	p.R361R		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	361					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)	TACTGGCCAGGCGCTTGGCTG	0.622																																						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.(1081-1083)cgC>cgG		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						141.0	134.0	137.0					19																	36050067		2203	4300	6503	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.chr19:36050067G>C		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.1083C>G	19.37:g.36050067G>C							p.R361R	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		8	1111	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		361					O00738	Silent	SNP	ENST00000262623.3	37	c.1083C>G	CCDS12467.1																																																																																				0.622	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		106	859	0	0	0	1	0	106	859				
NAV3	89795	broad.mit.edu	37	12	78513106	78513106	+	Missense_Mutation	SNP	A	A	G			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:78513106A>G	ENST00000397909.2	+	15	3303	c.3130A>G	c.(3130-3132)Agc>Ggc	p.S1044G	NAV3_ENST00000536525.2_Missense_Mutation_p.S1044G|NAV3_ENST00000228327.6_Missense_Mutation_p.S1044G|NAV3_ENST00000266692.7_Missense_Mutation_p.S1044G			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1044	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGCAGGAAAAAGCAGTGGAGA	0.468										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(3130-3132)Agc>Ggc		neuron navigator 3							98.0	95.0	96.0					12																	78513106		1866	4109	5975	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78513106A>G	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3130A>G	12.37:g.78513106A>G	ENSP00000381007:p.Ser1044Gly	HNSCC(70;0.22)				NAV3_ENST00000266692.7_Missense_Mutation_p.S1044G|NAV3_ENST00000228327.6_Missense_Mutation_p.S1044G|NAV3_ENST00000536525.2_Missense_Mutation_p.S1044G	p.S1044G			Q8IVL0	NAV3_HUMAN			15	3303	+			1044			Ser-rich.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.3130A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.9|26.9	4.777943|4.777943	0.90195|0.90195	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000552895|ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T|T;T;T;T	0.19105|0.29397	2.17|1.57;1.57;1.57;1.57	6.0|6.0	6.0|6.0	0.97389|0.97389	.|.	.|0.000000	.|0.48286	.|U	.|0.000198	T|T	0.55369|0.55369	0.1916|0.1916	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.989;0.999;0.998	.|D;P;D;D	.|0.87578	.|0.998;0.778;0.986;0.987	T|T	0.55535|0.55535	-0.8126|-0.8126	7|10	0.10902|0.54805	T|T	0.67|0.06	-16.7918|-16.7918	16.4953|16.4953	0.84238|0.84238	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1044;1044;1044;1044	.|E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.|.;.;NAV3_HUMAN;.	R|G	115|1044	ENSP00000446644:K115R|ENSP00000446132:S1044G;ENSP00000381007:S1044G;ENSP00000228327:S1044G;ENSP00000266692:S1044G	ENSP00000446644:K115R|ENSP00000228327:S1044G	K|S	+|+	2|1	0|0	NAV3|NAV3	77037237|77037237	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.064000|9.064000	0.93933|0.93933	2.287000|2.287000	0.76781|0.76781	0.533000|0.533000	0.62120|0.62120	AAG|AGC		0.468	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		78	542	0	0	0	1	0	78	542				
FUT1	2523	broad.mit.edu	37	19	49254216	49254216	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr19:49254216C>T	ENST00000310160.3	-	4	1297	c.323G>A	c.(322-324)cGc>cAc	p.R108H	FUT1_ENST00000601931.1_5'Flank	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	108					carbohydrate metabolic process (GO:0005975)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		AAAGGCCCGGCGGCCGTTGAG	0.662																																						ENST00000310160.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17						c.(322-324)cGc>cAc		fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)							30.0	36.0	34.0					19																	49254216		2203	4299	6502	SO:0001583	missense	2523				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity	g.chr19:49254216C>T		CCDS12733.1	19q13.33	2014-07-19	2006-01-19		ENSG00000174951	ENSG00000174951	2.4.1.69	"""Blood group antigens"", ""Fucosyltransferases"""	4012	protein-coding gene	gene with protein product		211100	"""fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, Bombay phenotype included)"", ""fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)"""	H, HSC			Standard	NM_000148		Approved		uc002pkk.3	P19526		ENST00000310160.3:c.323G>A	19.37:g.49254216C>T	ENSP00000312021:p.Arg108His						p.R108H	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)	4	1297	-		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	108					O14505|O14506|O14507	Missense_Mutation	SNP	ENST00000310160.3	37	c.323G>A	CCDS12733.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291428	0.40494	.	.	ENSG00000174951	ENST00000310160;ENST00000539428	D	0.96967	-4.19	4.53	3.5	0.40072	.	0.226724	0.28338	N	0.015702	D	0.96364	0.8814	L	0.59436	1.845	0.23293	N	0.997965	D	0.89917	1.0	D	0.70716	0.97	D	0.89515	0.3774	10	0.39692	T	0.17	-7.0379	6.213	0.20640	0.0:0.8027:0.0:0.1973	.	108	P19526	FUT1_HUMAN	H	108	ENSP00000312021:R108H	ENSP00000312021:R108H	R	-	2	0	FUT1	53946028	0.997000	0.39634	0.970000	0.41538	0.028000	0.11728	1.011000	0.29911	2.538000	0.85594	0.655000	0.94253	CGC		0.662	FUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466194.1	NM_000148		5	288	0	0	0	1	0	5	288				
ADD2	119	broad.mit.edu	37	2	70903959	70903959	+	Missense_Mutation	SNP	G	G	A	rs373747708		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:70903959G>A	ENST00000264436.4	-	13	2006	c.1562C>T	c.(1561-1563)gCg>gTg	p.A521V	ADD2_ENST00000355733.3_Missense_Mutation_p.A521V|ADD2_ENST00000430656.1_Missense_Mutation_p.A537V|ADD2_ENST00000413157.2_Missense_Mutation_p.A521V|ADD2_ENST00000407644.2_Missense_Mutation_p.A521V	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	521					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						AATGACGCTCGCCAGGAGCTG	0.602																																						ENST00000264436.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						c.(1561-1563)gCg>gTg		adducin 2 (beta)							67.0	69.0	68.0					2																	70903959		2203	4300	6503	SO:0001583	missense	119				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	g.chr2:70903959G>A	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1562C>T	2.37:g.70903959G>A	ENSP00000264436:p.Ala521Val					ADD2_ENST00000413157.2_Missense_Mutation_p.A521V|ADD2_ENST00000355733.3_Missense_Mutation_p.A521V|ADD2_ENST00000407644.2_Missense_Mutation_p.A521V|ADD2_ENST00000430656.1_Missense_Mutation_p.A537V	p.A521V	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN			13	2006	-			521					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	c.1562C>T	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.028296	0.93518	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000355733;ENST00000522886;ENST00000356565;ENST00000517596;ENST00000413157;ENST00000430656	T;T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15;2.15	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.42743	0.1216	L	0.56199	1.76	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;0.99;1.0	D;P;D;D;P;D	0.87578	0.988;0.804;0.998;0.98;0.709;0.996	T	0.22626	-1.0211	10	0.72032	D	0.01	-25.3371	16.036	0.80628	0.0:0.0:1.0:0.0	.	537;521;215;521;521;521	B4DM17;P35612-4;E9PAN1;Q05DK5;P35612;P35612-3	.;.;.;.;ADDB_HUMAN;.	V	521;521;521;215;521;215;521;537	ENSP00000264436:A521V;ENSP00000384677:A521V;ENSP00000347972:A521V;ENSP00000430243:A215V;ENSP00000388072:A521V;ENSP00000398112:A537V	ENSP00000264436:A521V	A	-	2	0	ADD2	70757467	1.000000	0.71417	0.988000	0.46212	0.838000	0.47535	8.884000	0.92432	2.646000	0.89796	0.655000	0.94253	GCG		0.602	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		31	367	0	0	0	1	0	31	367				
FILIP1	27145	broad.mit.edu	37	6	76022446	76022446	+	Silent	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr6:76022446C>T	ENST00000237172.7	-	5	3432	c.3102G>A	c.(3100-3102)cgG>cgA	p.R1034R	FILIP1_ENST00000393004.2_Silent_p.R1034R|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Silent_p.R935R	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1034										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TGAGGATTGTCCGTCCCATGG	0.468																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(3100-3102)cgG>cgA		filamin A interacting protein 1							202.0	204.0	203.0					6																	76022446		2203	4300	6503	SO:0001819	synonymous_variant	27145							g.chr6:76022446C>T	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.3102G>A	6.37:g.76022446C>T						FILIP1_ENST00000237172.7_Silent_p.R1034R|FILIP1_ENST00000370020.1_Silent_p.R935R|FILIP1_ENST00000498523.1_5'UTR	p.R1034R			Q7Z7B0	FLIP1_HUMAN			5	3323	-			1034					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Silent	SNP	ENST00000237172.7	37	c.3102G>A	CCDS4984.1																																																																																				0.468	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		84	844	0	0	0	1	0	84	844				
RP1L1	94137	broad.mit.edu	37	8	10469289	10469289	+	Silent	SNP	C	C	T	rs376509567		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr8:10469289C>T	ENST00000382483.3	-	4	2542	c.2319G>A	c.(2317-2319)ccG>ccA	p.P773P		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	773					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GTATGGGGGCCGGCGAGCATG	0.662																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(2317-2319)ccG>ccA		retinitis pigmentosa 1-like 1		C		1,3899		0,1,1949	51.0	58.0	56.0		2319	-8.8	0.0	8		56	10,8256		1,8,4124	no	coding-synonymous	RP1L1	NM_178857.5		1,9,6073	TT,TC,CC		0.121,0.0256,0.0904		773/2401	10469289	11,12155	1950	4133	6083	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10469289C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.2319G>A	8.37:g.10469289C>T							p.P773P	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	2542	-			773					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.2319G>A	CCDS43708.1																																																																																				0.662	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			86	527	0	0	0	1	0	86	527				
DMRT3	58524	broad.mit.edu	37	9	990814	990814	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990814C>T	ENST00000190165.2	+	2	1266	c.1228C>T	c.(1228-1230)Cct>Tct	p.P410S		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	410					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		GTATGTCAGTCCTTTCCCCAG	0.582																																						ENST00000190165.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1228-1230)Cct>Tct		doublesex and mab-3 related transcription factor 3							83.0	61.0	69.0					9																	990814		2203	4300	6503	SO:0001583	missense	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990814C>T	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.1228C>T	9.37:g.990814C>T	ENSP00000190165:p.Pro410Ser						p.P410S	NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	2	1266	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	410					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	c.1228C>T	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.786377	0.70337	.	.	ENSG00000064218	ENST00000190165	T	0.28454	1.61	5.33	4.41	0.53225	.	0.064446	0.64402	D	0.000006	T	0.45597	0.1350	L	0.32530	0.975	0.58432	D	0.999996	D	0.89917	1.0	D	0.83275	0.996	T	0.47736	-0.9094	10	0.72032	D	0.01	-13.425	15.8593	0.79009	0.0:0.8641:0.1359:0.0	.	410	Q9NQL9	DMRT3_HUMAN	S	410	ENSP00000190165:P410S	ENSP00000190165:P410S	P	+	1	0	DMRT3	980814	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	7.257000	0.78362	1.209000	0.43321	0.655000	0.94253	CCT		0.582	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		23	179	0	0	0	1	0	23	179				
LRP1B	53353	broad.mit.edu	37	2	141245239	141245239	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:141245239G>A	ENST00000389484.3	-	58	10161	c.9190C>T	c.(9190-9192)Cga>Tga	p.R3064*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3064					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCATTGGGTCGGCTAGAATCG	0.313										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(9190-9192)Cga>Tga		low density lipoprotein receptor-related protein 1B							93.0	95.0	94.0					2																	141245239		2203	4292	6495	SO:0001587	stop_gained	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141245239G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9190C>T	2.37:g.141245239G>A	ENSP00000374135:p.Arg3064*	TSP Lung(27;0.18)					p.R3064*	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	58	10161	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3064					Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	ENST00000389484.3	37	c.9190C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	55	24.185479	0.99959	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	5.77	1.45	0.22620	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	9.9117	0.41411	0.0797:0.0:0.2109:0.7094	.	.	.	.	X	3064;3002	.	ENSP00000374135:R3064X	R	-	1	2	LRP1B	140961709	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	3.054000	0.49908	0.264000	0.21851	0.650000	0.86243	CGA		0.313	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		30	330	0	0	0	1	0	30	330				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		15	91	1	0	8.00594e-06	1	8.10793e-06	15	91				
BAI3	577	broad.mit.edu	37	6	69666614	69666614	+	Silent	SNP	A	A	C			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr6:69666614A>C	ENST00000370598.1	+	8	2259	c.1438A>C	c.(1438-1440)Agg>Cgg	p.R480R		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	480	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AAGGCGAATAAGGACCTGTCA	0.507																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(1438-1440)Agg>Cgg		brain-specific angiogenesis inhibitor 3							163.0	154.0	157.0					6																	69666614		2203	4300	6503	SO:0001819	synonymous_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69666614A>C	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1438A>C	6.37:g.69666614A>C							p.R480R	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			8	2259	+		all_lung(197;0.212)	480			TSP type-1 4.		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	c.1438A>C	CCDS4968.1																																																																																				0.507	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			30	404	0	0	0	1	0	30	404				
SQSTM1	8878	broad.mit.edu	37	5	179248115	179248115	+	Missense_Mutation	SNP	C	C	G			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr5:179248115C>G	ENST00000389805.4	+	1	357	c.179C>G	c.(178-180)cCt>cGt	p.P60R	SQSTM1_ENST00000360718.5_5'Flank|SQSTM1_ENST00000510187.1_Missense_Mutation_p.P60R|SQSTM1_ENST00000376929.3_Intron|SQSTM1_ENST00000402874.3_5'UTR	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	60	Interaction with PAWR.|Interaction with PRKCZ and dimerization. {ECO:0000250}.|OPR.				apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cell differentiation (GO:0030154)|endosomal transport (GO:0016197)|immune system process (GO:0002376)|intracellular signal transduction (GO:0035556)|macroautophagy (GO:0016236)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein heterooligomerization (GO:0051291)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of Ras protein signal transduction (GO:0046578)|response to stress (GO:0006950)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|lysosome (GO:0005764)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGCTGCGGCCTGGCGGCTTC	0.801																																						ENST00000389805.4																		SQSTM1/ALK(2)	0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13						c.(178-180)cCt>cGt		sequestosome 1							2.0	2.0	2.0					5																	179248115		1002	2412	3414	SO:0001583	missense	8878				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding	g.chr5:179248115C>G	U46751	CCDS34317.1, CCDS47355.1	5q35	2008-02-05	2004-04-15		ENSG00000161011	ENSG00000161011			11280	protein-coding gene	gene with protein product		601530	"""Paget disease of bone 3"", ""oxidative stress induced like"""	PDB3, OSIL		8650207, 8551575	Standard	NM_003900		Approved	p62, p60, p62B, A170	uc003mkw.4	Q13501	OTTHUMG00000150643	ENST00000389805.4:c.179C>G	5.37:g.179248115C>G	ENSP00000374455:p.Pro60Arg					SQSTM1_ENST00000376929.3_Intron|SQSTM1_ENST00000510187.1_Missense_Mutation_p.P60R|SQSTM1_ENST00000402874.3_5'UTR	p.P60R	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	357	+	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	60			Interaction with PAWR.|Interaction with PRKCZ and dimerization (By similarity).|OPR.		A6NFN7|B2R661|B3KUW5|Q13446|Q9BUV7|Q9BVS6|Q9UEU1	Missense_Mutation	SNP	ENST00000389805.4	37	c.179C>G	CCDS34317.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602748	0.46423	.	.	ENSG00000161011	ENST00000389805;ENST00000504627;ENST00000510187	T;T;T	0.39406	1.92;1.08;1.92	4.61	4.61	0.57282	Phox/Bem1p (2);	0.628414	0.15843	N	0.241907	T	0.47451	0.1446	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.994	D;D	0.65233	0.933;0.922	T	0.24440	-1.0160	10	0.27785	T	0.31	-9.3298	12.9006	0.58123	0.0:0.8362:0.1638:0.0	.	60;60	Q13501;E7EMC7	SQSTM_HUMAN;.	R	60	ENSP00000374455:P60R;ENSP00000425957:P60R;ENSP00000424477:P60R	ENSP00000374455:P60R	P	+	2	0	SQSTM1	179180721	0.986000	0.35501	0.028000	0.17463	0.771000	0.43674	3.402000	0.52608	2.087000	0.62958	0.462000	0.41574	CCT		0.801	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319344.1			3	10	0	0	0	1	0	3	10				
PAQR3	152559	broad.mit.edu	37	4	79847745	79847745	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr4:79847745G>A	ENST00000512733.1	-	4	845	c.632C>T	c.(631-633)tCg>tTg	p.S211L	PAQR3_ENST00000295462.3_3'UTR|PAQR3_ENST00000515541.1_5'UTR|PAQR3_ENST00000380645.4_Missense_Mutation_p.S211L	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	211					negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein phosphorylation (GO:0001933)|protein localization to Golgi apparatus (GO:0034067)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						TCCATATCCCGAAACAGAACA	0.443																																						ENST00000512733.1																			0				breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						c.(631-633)tCg>tTg		progestin and adipoQ receptor family member III							163.0	153.0	156.0					4																	79847745		2203	4300	6503	SO:0001583	missense	152559					Golgi membrane|integral to membrane	receptor activity	g.chr4:79847745G>A	AK055774	CCDS34020.1	4q21	2008-02-05				ENSG00000163291			30130	protein-coding gene	gene with protein product		614577				16044242	Standard	XM_006714104		Approved		uc003hlp.1	Q6TCH7		ENST00000512733.1:c.632C>T	4.37:g.79847745G>A	ENSP00000421981:p.Ser211Leu					PAQR3_ENST00000380645.4_Missense_Mutation_p.S211L|PAQR3_ENST00000515541.1_5'UTR|PAQR3_ENST00000295462.3_3'UTR	p.S211L	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN			4	845	-			211					A8K5B7|B3KP59|Q6PIQ1|Q86X05|Q8NCP9	Missense_Mutation	SNP	ENST00000512733.1	37	c.632C>T	CCDS34020.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.298408	0.40694	.	.	ENSG00000163291	ENST00000512733;ENST00000380645	T;T	0.29142	1.58;1.58	5.88	5.88	0.94601	.	0.104089	0.64402	D	0.000003	T	0.25195	0.0612	N	0.17474	0.49	0.80722	D	1	B	0.22851	0.076	B	0.22753	0.041	T	0.03761	-1.1006	10	0.51188	T	0.08	-2.2939	20.2187	0.98312	0.0:0.0:1.0:0.0	.	211	Q6TCH7	PAQR3_HUMAN	L	211	ENSP00000421981:S211L;ENSP00000370019:S211L	ENSP00000344203:S211L	S	-	2	0	PAQR3	80066769	1.000000	0.71417	0.998000	0.56505	0.069000	0.16628	7.938000	0.87678	2.780000	0.95670	0.655000	0.94253	TCG		0.443	PAQR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363442.1	NM_177453		27	476	0	0	0	1	0	27	476				
GPR113	165082	broad.mit.edu	37	2	26536714	26536714	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:26536714G>A	ENST00000311519.1	-	8	1189	c.1190C>T	c.(1189-1191)cCg>cTg	p.P397L	GPR113_ENST00000421160.2_Missense_Mutation_p.P328L|GPR113_ENST00000541401.1_5'UTR|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000333478.6_Missense_Mutation_p.P198L	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	397					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P198L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCAGCCATCGGGCAGCGCTG	0.597																																						ENST00000333478.6																			1	Substitution - Missense(1)	p.P198L(1)	large_intestine(1)	NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(592-594)cCg>cTg		G protein-coupled receptor 113							99.0	95.0	96.0					2																	26536714		2203	4300	6503	SO:0001583	missense	165082				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:26536714G>A	AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"""-"", ""GPCR / Class B : Orphans"""	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.1190C>T	2.37:g.26536714G>A	ENSP00000307831:p.Pro397Leu					GPR113_ENST00000421160.2_Missense_Mutation_p.P328L|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000541401.1_5'UTR|GPR113_ENST00000311519.1_Missense_Mutation_p.P397L	p.P198L	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN			5	1175	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		397					B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Missense_Mutation	SNP	ENST00000311519.1	37	c.593C>T	CCDS46239.1	.	.	.	.	.	.	.	.	.	.	G	37	6.513339	0.97629	.	.	ENSG00000173567	ENST00000333478;ENST00000421160;ENST00000311519	T;T;T	0.07908	3.15;3.15;3.15	5.8	5.8	0.92144	.	.	.	.	.	T	0.14960	0.0361	L	0.61218	1.895	0.80722	D	1	B;P;B	0.50617	0.04;0.937;0.002	B;P;B	0.45506	0.017;0.483;0.004	T	0.00197	-1.1930	9	0.54805	T	0.06	-25.3472	15.561	0.76244	0.0:0.0:1.0:0.0	.	328;198;397	E9PEV1;Q8IZF5-2;Q8IZF5	.;.;GP113_HUMAN	L	198;328;397	ENSP00000327396:P198L;ENSP00000388537:P328L;ENSP00000307831:P397L	ENSP00000307831:P397L	P	-	2	0	GPR113	26390218	0.997000	0.39634	0.966000	0.40874	0.015000	0.08874	3.155000	0.50700	2.755000	0.94549	0.655000	0.94253	CCG		0.597	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		19	241	0	0	0	1	0	19	241				
KIAA1147	57189	broad.mit.edu	37	7	141385395	141385395	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr7:141385395G>A	ENST00000536163.1	-	3	409	c.410C>T	c.(409-411)gCc>gTc	p.A137V	KIAA1147_ENST00000482493.1_Missense_Mutation_p.A46V	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN	KIAA1147	137										breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					GGGCATGTTGGCAAAGCAGGC	0.537																																						ENST00000536163.1																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12						c.(409-411)gCc>gTc		KIAA1147							76.0	78.0	78.0					7																	141385395		2048	4178	6226	SO:0001583	missense	57189							g.chr7:141385395G>A	AB032973	CCDS47726.1	7q34	2012-10-04			ENSG00000257093	ENSG00000257093			29472	protein-coding gene	gene with protein product							Standard	NM_001080392		Approved	LCHN	uc003vwk.3	A4D1U4	OTTHUMG00000157539	ENST00000536163.1:c.410C>T	7.37:g.141385395G>A	ENSP00000445768:p.Ala137Val					KIAA1147_ENST00000482493.1_Missense_Mutation_p.A46V	p.A137V	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN			3	409	-	Melanoma(164;0.0171)		137					Q9ULS3	Missense_Mutation	SNP	ENST00000536163.1	37	c.410C>T	CCDS47726.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102202	0.76983	.	.	ENSG00000257093	ENST00000536163;ENST00000482493	.	.	.	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.38214	0.1032	N	0.21545	0.675	0.80722	D	1	P	0.40515	0.719	B	0.35182	0.197	T	0.28586	-1.0039	9	0.30078	T	0.28	-20.5547	17.3898	0.87427	0.0:0.0:1.0:0.0	.	137	A4D1U4	LCHN_HUMAN	V	137;46	.	ENSP00000297761:A137V	A	-	2	0	KIAA1147	141031864	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.565000	0.73974	2.329000	0.79093	0.591000	0.81541	GCC		0.537	KIAA1147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349104.1			5	370	0	0	0	1	0	5	370				
CADM1	23705	broad.mit.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr11:115080343G>T	ENST00000452722.3	-	8	1049	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000537058.1_Silent_p.T343T	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.T343T(5)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggtggtggtggttgttgtgg	0.433																																						ENST00000537058.1																			5	Substitution - coding silent(5)	p.T343T(5)	kidney(3)|lung(2)	cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(1027-1029)acC>acA		cell adhesion molecule 1							45.0	50.0	49.0					11																	115080343		2201	4296	6497	SO:0001819	synonymous_variant	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115080343G>T	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1029C>A	11.37:g.115080343G>T						CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000542447.2_Intron	p.T343T			Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	8	1049	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	343	PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).					Silent	SNP	ENST00000452722.3	37	c.1029C>A	CCDS8373.1																																																																																				0.433	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		7	280	1	0	2.0095e-06	1	2.06136e-06	7	280				
DMRT3	58524	broad.mit.edu	37	9	990458	990458	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990458C>G	ENST00000190165.2	+	2	910	c.872C>G	c.(871-873)tCa>tGa	p.S291*		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	291					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		AGCCGATCCTCAGTCACGGGA	0.582																																						ENST00000190165.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(871-873)tCa>tGa		doublesex and mab-3 related transcription factor 3							102.0	91.0	95.0					9																	990458		2203	4300	6503	SO:0001587	stop_gained	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990458C>G	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.872C>G	9.37:g.990458C>G	ENSP00000190165:p.Ser291*						p.S291*	NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	2	910	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	291					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Nonsense_Mutation	SNP	ENST00000190165.2	37	c.872C>G	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694850	0.48202	.	.	ENSG00000064218	ENST00000190165	.	.	.	4.82	4.82	0.62117	.	0.460395	0.21960	N	0.066615	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-24.3423	17.9156	0.88948	0.0:1.0:0.0:0.0	.	.	.	.	X	291	.	ENSP00000190165:S291X	S	+	2	0	DMRT3	980458	1.000000	0.71417	0.030000	0.17652	0.094000	0.18550	7.063000	0.76714	2.234000	0.73211	0.455000	0.32223	TCA		0.582	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		26	368	0	0	0	1	0	26	368				
AP1G2	8906	broad.mit.edu	37	14	24033838	24033838	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr14:24033838G>A	ENST00000308724.5	-	8	1609	c.854C>T	c.(853-855)gCc>gTc	p.A285V	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000556277.1_5'UTR|AP1G2_ENST00000397120.3_Missense_Mutation_p.A285V	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	285					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CGCATTTCCGGCATTTCGGCT	0.547																																						ENST00000308724.5																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28						c.(853-855)gCc>gTc		adaptor-related protein complex 1, gamma 2 subunit							127.0	92.0	104.0					14																	24033838		2203	4300	6503	SO:0001583	missense	8906				interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity	g.chr14:24033838G>A	AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.854C>T	14.37:g.24033838G>A	ENSP00000312442:p.Ala285Val					AP1G2_ENST00000556277.1_5'UTR|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.A285V	p.A285V	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN		GBM - Glioblastoma multiforme(265;0.00672)	8	1609	-	all_cancers(95;0.000251)		285					D3DS51|O75504	Missense_Mutation	SNP	ENST00000308724.5	37	c.854C>T	CCDS9602.1	.	.	.	.	.	.	.	.	.	.	G	3.100	-0.185038	0.06340	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000535852	T;T	0.24908	1.83;1.83	3.98	3.98	0.46160	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.065396	0.64402	D	0.000013	T	0.10809	0.0264	N	0.02854	-0.475	0.46521	D	0.999086	B;B	0.22211	0.034;0.066	B;B	0.36666	0.098;0.23	T	0.19811	-1.0294	10	0.06099	T	0.92	-12.7253	7.4335	0.27141	0.1166:0.0:0.8834:0.0	.	285;140	O75843;Q86V28	AP1G2_HUMAN;.	V	285;285;140	ENSP00000312442:A285V;ENSP00000380309:A285V	ENSP00000312442:A285V	A	-	2	0	AP1G2	23103678	1.000000	0.71417	0.946000	0.38457	0.352000	0.29268	4.440000	0.59975	2.056000	0.61249	0.313000	0.20887	GCC		0.547	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917		5	270	0	0	0	1	0	5	270				
AHNAK2	113146	broad.mit.edu	37	14	105419058	105419058	+	Silent	SNP	G	G	A	rs149453124	byFrequency	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr14:105419058G>A	ENST00000333244.5	-	7	2849	c.2730C>T	c.(2728-2730)gcC>gcT	p.A910A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	910						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTTTGGGGCCGGCTCCCTCGG	0.617													.|||	3	0.000599042	0.0023	0.0	5008	,	,		16281	0.0		0.0	False		,,,				2504	0.0					ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(2728-2730)gcC>gcT		AHNAK nucleoprotein 2		G		3,3691		0,3,1844	132.0	154.0	147.0		2730	-5.7	0.0	14	dbSNP_134	147	0,8182		0,0,4091	no	coding-synonymous	AHNAK2	NM_138420.2		0,3,5935	AA,AG,GG		0.0,0.0812,0.0253		910/5796	105419058	3,11873	1847	4091	5938	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105419058G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2730C>T	14.37:g.105419058G>A						AHNAK2_ENST00000557457.1_Intron	p.A910A	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	2849	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	910					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.2730C>T	CCDS45177.1																																																																																				0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		111	1325	0	0	0	1	0	111	1325				
GRIA1	2890	broad.mit.edu	37	5	153054198	153054198	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr5:153054198C>T	ENST00000285900.5	+	6	1181	c.838C>T	c.(838-840)Cgg>Tgg	p.R280W	GRIA1_ENST00000521843.2_Missense_Mutation_p.R211W|GRIA1_ENST00000518783.1_Missense_Mutation_p.R290W|GRIA1_ENST00000518142.1_Missense_Mutation_p.R200W|GRIA1_ENST00000448073.4_Missense_Mutation_p.R290W|GRIA1_ENST00000340592.5_Missense_Mutation_p.R280W	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	280					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)			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)	AGACCACACACGGGTGGACTG	0.557																																						ENST00000285900.5																			0				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.(838-840)Cgg>Tgg		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						108.0	97.0	101.0					5																	153054198		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.chr5:153054198C>T		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.838C>T	5.37:g.153054198C>T	ENSP00000285900:p.Arg280Trp					GRIA1_ENST00000521843.2_Missense_Mutation_p.R211W|GRIA1_ENST00000518783.1_Missense_Mutation_p.R290W|GRIA1_ENST00000448073.4_Missense_Mutation_p.R290W|GRIA1_ENST00000340592.5_Missense_Mutation_p.R280W|GRIA1_ENST00000518142.1_Missense_Mutation_p.R200W	p.R280W	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)		6	1181	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	280					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.838C>T	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.825906	0.71143	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97;1.97	5.56	3.67	0.42095	Extracellular ligand-binding receptor (1);	0.058832	0.64402	D	0.000004	T	0.33000	0.0848	L	0.34521	1.04	0.50039	D	0.999845	D;D;D;D;D;D	0.89917	1.0;1.0;0.991;1.0;1.0;0.996	D;D;B;D;D;P	0.67231	0.95;0.95;0.439;0.95;0.916;0.868	T	0.03545	-1.1026	10	0.66056	D	0.02	.	13.4245	0.61018	0.2865:0.7135:0.0:0.0	.	290;290;200;290;280;280	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	W	280;280;200;234;280;211;211;290;290	ENSP00000285900:R280W;ENSP00000427920:R200W;ENSP00000339343:R280W;ENSP00000427864:R211W;ENSP00000442108:R211W;ENSP00000428994:R290W;ENSP00000415569:R290W	ENSP00000285900:R280W	R	+	1	2	GRIA1	153034391	1.000000	0.71417	0.999000	0.59377	0.940000	0.58332	2.989000	0.49393	0.616000	0.30141	0.655000	0.94253	CGG		0.557	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			47	332	0	0	0	1	0	47	332				
C16orf46	123775	broad.mit.edu	37	16	81095233	81095233	+	Silent	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr16:81095233G>A	ENST00000299578.5	-	4	956	c.721C>T	c.(721-723)Ctg>Ttg	p.L241L	C16orf46_ENST00000444657.3_5'Flank|RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000378611.4_Silent_p.L241L	NM_152337.2	NP_689550.2	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	241						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						TCCACATCCAGCACCTTCTCT	0.468																																						ENST00000378611.4																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.(721-723)Ctg>Ttg		chromosome 16 open reading frame 46							152.0	143.0	146.0					16																	81095233		2202	4300	6502	SO:0001819	synonymous_variant	123775							g.chr16:81095233G>A	BC064143	CCDS10932.1, CCDS42201.1	16q23.2	2012-10-09			ENSG00000166455	ENSG00000166455			26525	protein-coding gene	gene with protein product							Standard	NM_152337		Approved	FLJ32702	uc002fgc.4	Q6P387	OTTHUMG00000137629	ENST00000299578.5:c.721C>T	16.37:g.81095233G>A						C16orf46_ENST00000299578.5_Silent_p.L241L|RP11-303E16.8_ENST00000564536.1_RNA	p.L241L	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN			3	836	-			241					Q96MA7	Silent	SNP	ENST00000299578.5	37	c.721C>T	CCDS10932.1																																																																																				0.468	C16orf46-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269054.2	NM_152337		68	810	0	0	0	1	0	68	810				
PCDHB14	56122	broad.mit.edu	37	5	140604077	140604077	+	Silent	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr5:140604077C>T	ENST00000239449.4	+	1	1000	c.1000C>T	c.(1000-1002)Cta>Tta	p.L334L	PCDHB14_ENST00000515856.2_Silent_p.L181L	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	334	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGCACCCTTCTAGTTAAAGT	0.408																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(1000-1002)Cta>Tta									82.0	88.0	86.0					5																	140604077		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604077C>T	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1000C>T	5.37:g.140604077C>T						PCDHB14_ENST00000515856.2_Silent_p.L181L	p.L334L	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1000	+			334			Cadherin 3.		B4DPE2|Q4FZA4|Q4KN11	Silent	SNP	ENST00000239449.4	37	c.1000C>T	CCDS4256.1																																																																																				0.408	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		6	418	0	0	0	1	0	6	418				
U2AF2	11338	broad.mit.edu	37	19	56171880	56171880	+	Splice_Site	SNP	A	A	C			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr19:56171880A>C	ENST00000308924.4	+	4	270		c.e4-1		U2AF2_ENST00000450554.2_Splice_Site|U2AF2_ENST00000590551.1_5'Flank|CTD-2537I9.12_ENST00000589456.1_RNA|CTD-2537I9.12_ENST00000585940.1_RNA			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.?(2)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CACCTCCCCCAGTCGTTCCCC	0.637																																						ENST00000450554.2																			2	Unknown(2)	p.?(2)	prostate(1)|central_nervous_system(1)	biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21						c.e4-1		U2 small nuclear RNA auxiliary factor 2							28.0	26.0	27.0					19																	56171880		2203	4300	6503	SO:0001630	splice_region_variant	11338				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding	g.chr19:56171880A>C	BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"""RNA binding motif (RRM) containing"""	23156	protein-coding gene	gene with protein product	"""U2 small nuclear ribonucleoprotein auxiliary factor (65kD)"", ""splicing factor U2AF 65 kD subunit"", ""U2 snRNP auxiliary factor large subunit"""	191318	"""U2 (RNU2) small nuclear RNA auxiliary factor 2"""			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.231-1A>C	19.37:g.56171880A>C						U2AF2_ENST00000308924.4_Splice_Site		NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	4	1189	+		Colorectal(82;0.00244)|Ovarian(87;0.133)						Q96HC5	Splice_Site	SNP	ENST00000308924.4	37		CCDS12933.1	.	.	.	.	.	.	.	.	.	.	-	17.96	3.515229	0.64634	.	.	ENSG00000063244	ENST00000308924;ENST00000450554	.	.	.	3.61	3.61	0.41365	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1346	0.42699	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	U2AF2	60863692	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	8.427000	0.90275	1.646000	0.50622	0.387000	0.25754	.		0.637	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453599.1	NM_007279	Intron	10	76	0	0	0	1	0	10	76				
RTP5	285093	broad.mit.edu	37	2	242814188	242814188	+	Missense_Mutation	SNP	G	G	A	rs376986511		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:242814188G>A	ENST00000343216.3	+	2	509	c.481G>A	c.(481-483)Gcc>Acc	p.A161T		NM_173821.2	NP_776182.2																					CCCAGACCCCGCCTGGAGCGC	0.706																																						ENST00000343216.3																			0											c.(481-483)Gcc>Acc		CXXC finger protein 11			THR/ALA	0,3872		0,0,1936	7.0	9.0	8.0		481	-0.2	0.0	2		8	1,8197		0,1,4098	no	missense	C2orf85	NM_173821.2	58	0,1,6034	AA,AG,GG		0.0122,0.0,0.0083	probably-damaging	161/573	242814188	1,12069	1936	4099	6035	SO:0001583	missense	285093					integral to membrane		g.chr2:242814188G>A																												ENST00000343216.3:c.481G>A	2.37:g.242814188G>A	ENSP00000345374:p.Ala161Thr						p.A161T	NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN			2	509	+			161						Missense_Mutation	SNP	ENST00000343216.3	37	c.481G>A	CCDS42843.1	.	.	.	.	.	.	.	.	.	.	.	8.890	0.953715	0.18431	0.0	1.22E-4	ENSG00000188011	ENST00000343216	T	0.37752	1.18	2.88	-0.156	0.13391	.	.	.	.	.	T	0.12220	0.0297	N	0.14661	0.345	0.09310	N	1	P	0.42375	0.778	B	0.24155	0.051	T	0.19160	-1.0314	9	0.17369	T	0.5	-13.4968	4.5	0.11860	0.2398:0.1874:0.5728:0.0	.	161	Q14D33	CB085_HUMAN	T	161	ENSP00000345374:A161T	ENSP00000345374:A161T	A	+	1	0	C2orf85	242462861	0.001000	0.12720	0.000000	0.03702	0.357000	0.29423	0.115000	0.15540	-0.028000	0.13850	0.450000	0.29827	GCC		0.706	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1			6	64	0	0	0	1	0	6	64				
DMRT3	58524	broad.mit.edu	37	9	990525	990525	+	Missense_Mutation	SNP	C	C	G			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990525C>G	ENST00000190165.2	+	2	977	c.939C>G	c.(937-939)atC>atG	p.I313M		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	313					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		ATGGGCACATCTTTGAACACA	0.557																																						ENST00000190165.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(937-939)atC>atG		doublesex and mab-3 related transcription factor 3							132.0	114.0	120.0					9																	990525		2203	4300	6503	SO:0001583	missense	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990525C>G	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.939C>G	9.37:g.990525C>G	ENSP00000190165:p.Ile313Met						p.I313M	NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	2	977	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	313					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	c.939C>G	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	C	9.363	1.068464	0.20067	.	.	ENSG00000064218	ENST00000190165	T	0.23552	1.9	4.95	2.77	0.32553	.	0.371972	0.27941	N	0.017240	T	0.10981	0.0268	N	0.14661	0.345	0.24954	N	0.991776	P	0.34780	0.468	B	0.27500	0.08	T	0.14504	-1.0470	10	0.34782	T	0.22	-14.782	5.6081	0.17391	0.0:0.4703:0.3855:0.1441	.	313	Q9NQL9	DMRT3_HUMAN	M	313	ENSP00000190165:I313M	ENSP00000190165:I313M	I	+	3	3	DMRT3	980525	1.000000	0.71417	0.978000	0.43139	0.338000	0.28826	1.290000	0.33319	1.054000	0.40438	0.561000	0.74099	ATC		0.557	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		11	303	0	0	0	1	0	11	303				
TTN	7273	broad.mit.edu	37	2	179470381	179470381	+	Missense_Mutation	SNP	G	G	C			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:179470381G>C	ENST00000591111.1	-	229	48942	c.48718C>G	c.(48718-48720)Ctt>Gtt	p.L16240V	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L9008V|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L8941V|TTN_ENST00000460472.2_Missense_Mutation_p.L8816V|TTN_ENST00000589042.1_Missense_Mutation_p.L17881V|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L15313V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16240	Fibronectin type-III 18. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCAGTCAAGTGTGATAGTG	0.438																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(53641-53643)Ctt>Gtt		titin							103.0	99.0	101.0					2																	179470381		1933	4125	6058	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179470381G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.48718C>G	2.37:g.179470381G>C	ENSP00000465570:p.Leu16240Val					TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L8941V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L15313V|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L16240V|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L9008V|TTN_ENST00000460472.2_Missense_Mutation_p.L8816V	p.L17881V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		279	53865	-			16240			Fibronectin type-III 29.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.53641C>G		.	.	.	.	.	.	.	.	.	.	G	6.849	0.525950	0.13066	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	5.65	4.78	0.61160	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.59985	0.2234	L	0.59436	1.845	0.47621	D	0.999476	P;P;P;P	0.47762	0.9;0.9;0.9;0.9	P;P;P;P	0.45794	0.493;0.493;0.493;0.493	T	0.65672	-0.6111	9	0.87932	D	0	.	14.6202	0.68579	0.0699:0.0:0.9301:0.0	.	8816;8941;9008;16240	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	15313;8816;9008;8941;8816	ENSP00000343764:L15313V;ENSP00000434586:L8816V;ENSP00000340554:L9008V;ENSP00000352154:L8941V	ENSP00000340554:L9008V	L	-	1	0	TTN	179178626	1.000000	0.71417	0.993000	0.49108	0.554000	0.35429	3.344000	0.52174	1.394000	0.46624	-0.140000	0.14226	CTT		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	307	0	0	0	1	0	5	307				
QRICH2	84074	broad.mit.edu	37	17	74289257	74289257	+	Missense_Mutation	SNP	C	C	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:74289257C>A	ENST00000262765.5	-	4	1232	c.1053G>T	c.(1051-1053)ttG>ttT	p.L351F		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	351										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CGACGACAGGCAATGTCAATC	0.483																																						ENST00000262765.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						c.(1051-1053)ttG>ttT		glutamine rich 2							185.0	149.0	161.0					17																	74289257		2203	4300	6503	SO:0001583	missense	84074						protein binding	g.chr17:74289257C>A	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.1053G>T	17.37:g.74289257C>A	ENSP00000262765:p.Leu351Phe						p.L351F	NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN			4	1232	-			351					A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.1053G>T	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	C	8.839	0.941702	0.18281	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.09538	2.97	4.17	-8.26	0.01021	.	.	.	.	.	T	0.03827	0.0108	L	0.29908	0.895	0.09310	N	1	P;B	0.36535	0.557;0.218	B;B	0.30495	0.116;0.116	T	0.41197	-0.9522	9	0.10111	T	0.7	3.8857	1.7044	0.02878	0.2002:0.3545:0.0994:0.3459	.	351;351	B5MD94;Q9H0J4	.;QRIC2_HUMAN	F	351	ENSP00000262765:L351F	ENSP00000262765:L351F	L	-	3	2	QRICH2	71800852	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-2.265000	0.01172	-1.079000	0.03113	0.563000	0.77884	TTG		0.483	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		97	415	1	0	4.08182e-41	1	4.44527e-41	97	415				
EN1	2019	broad.mit.edu	37	2	119604052	119604052	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:119604052C>T	ENST00000295206.6	-	1	1202	c.692G>A	c.(691-693)gGc>gAc	p.G231D	EN1_ENST00000546667.1_5'Flank	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	231	Poly-Gly.				anatomical structure morphogenesis (GO:0009653)|dorsal/ventral pattern formation (GO:0009953)|embryonic forelimb morphogenesis (GO:0035115)|hindbrain development (GO:0030902)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|multicellular organism growth (GO:0035264)|neuron development (GO:0048666)|pigmentation (GO:0043473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|response to cocaine (GO:0042220)|skeletal system development (GO:0001501)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						GCTCCCCGCGCCGCCTCCACT	0.766																																						ENST00000295206.6																			0				endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						c.(691-693)gGc>gAc		engrailed homeobox 1							9.0	12.0	11.0					2																	119604052		2173	4260	6433	SO:0001583	missense	2019				skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:119604052C>T	L12699	CCDS2123.1	2q14.2	2011-06-20	2007-02-15		ENSG00000163064	ENSG00000163064		"""Homeoboxes / ANTP class : NKL subclass"""	3342	protein-coding gene	gene with protein product		131290				8094370	Standard	NM_001426		Approved		uc002tlm.3	Q05925	OTTHUMG00000131401	ENST00000295206.6:c.692G>A	2.37:g.119604052C>T	ENSP00000295206:p.Gly231Asp						p.G231D	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN			1	1202	-			231			Poly-Gly.		Q4ZG44	Missense_Mutation	SNP	ENST00000295206.6	37	c.692G>A	CCDS2123.1	.	.	.	.	.	.	.	.	.	.	C	3.021	-0.201824	0.06219	.	.	ENSG00000163064	ENST00000295206	D	0.91631	-2.88	3.45	2.54	0.30619	.	1.116690	0.06678	N	0.767538	T	0.77391	0.4123	N	0.01874	-0.695	0.20403	N	0.999905	B	0.02656	0.0	B	0.04013	0.001	T	0.66736	-0.5848	10	0.11794	T	0.64	-1.4516	6.0907	0.19993	0.0:0.7538:0.0:0.2462	.	231	Q05925	HME1_HUMAN	D	231	ENSP00000295206:G231D	ENSP00000295206:G231D	G	-	2	0	EN1	119320522	0.953000	0.32496	0.930000	0.37139	0.128000	0.20619	3.168000	0.50801	0.749000	0.32854	0.505000	0.49811	GGC		0.766	EN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254191.3			15	84	0	0	0	1	0	15	84				
DMRT3	58524	broad.mit.edu	37	9	990980	990980	+	Missense_Mutation	SNP	C	C	G			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990980C>G	ENST00000190165.2	+	2	1432	c.1394C>G	c.(1393-1395)tCt>tGt	p.S465C		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	465					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TCCTCAGACTCTAGAACACTC	0.512																																						ENST00000190165.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1393-1395)tCt>tGt		doublesex and mab-3 related transcription factor 3							109.0	108.0	109.0					9																	990980		2203	4300	6503	SO:0001583	missense	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990980C>G	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.1394C>G	9.37:g.990980C>G	ENSP00000190165:p.Ser465Cys						p.S465C	NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	2	1432	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	465					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	c.1394C>G	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310284	0.60414	.	.	ENSG00000064218	ENST00000190165	T	0.37235	1.21	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.51941	0.1704	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.55573	-0.8120	10	0.87932	D	0	-22.0637	18.7972	0.91999	0.0:1.0:0.0:0.0	.	465	Q9NQL9	DMRT3_HUMAN	C	465	ENSP00000190165:S465C	ENSP00000190165:S465C	S	+	2	0	DMRT3	980980	1.000000	0.71417	0.942000	0.38095	0.693000	0.40251	7.253000	0.78320	2.424000	0.82194	0.655000	0.94253	TCT		0.512	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		44	563	0	0	0	1	0	44	563				
CROCCP2	84809	broad.mit.edu	37	1	16955029	16955029	+	lincRNA	SNP	C	C	T	rs569509404		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:16955029C>T	ENST00000412962.1	-	0	410							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TTCCTCCAGCCGGTCCCGCTG	0.682													.|||	1	0.000199681	0.0	0.0	5008	,	,		60668	0.0		0.001	False		,,,				2504	0.0					ENST00000412962.1																			0																																																			0							g.chr1:16955029C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16955029C>T														0	410	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.682	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		4	31	0	0	0	1	0	4	31				
PACSIN2	11252	broad.mit.edu	37	22	43272926	43272926	+	Silent	SNP	G	G	A	rs370438215	byFrequency	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr22:43272926G>A	ENST00000263246.3	-	9	1320	c.1119C>T	c.(1117-1119)acC>acT	p.T373T	PACSIN2_ENST00000402229.1_Silent_p.T373T|PACSIN2_ENST00000407585.1_Intron|PACSIN2_ENST00000337959.4_Intron|PACSIN2_ENST00000403744.3_Silent_p.T373T	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	373					actin cytoskeleton organization (GO:0030036)|caveola assembly (GO:0070836)|caveolin-mediated endocytosis (GO:0072584)|cell projection morphogenesis (GO:0048858)|membrane tubulation (GO:0097320)|negative regulation of endocytosis (GO:0045806)|protein localization to endosome (GO:0036010)	caveola (GO:0005901)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				TCTCACTGACGGTGCTGCCCG	0.567													G|||	3	0.000599042	0.0023	0.0	5008	,	,		20533	0.0		0.0	False		,,,				2504	0.0					ENST00000263246.3																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19						c.(1117-1119)acC>acT		protein kinase C and casein kinase substrate in neurons 2		G	,,	8,4302		0,8,2147	195.0	227.0	216.0		1119,,1119	3.8	1.0	22		216	0,8492		0,0,4246	no	coding-synonymous,intron,coding-synonymous	PACSIN2	NM_001184970.1,NM_001184971.1,NM_007229.3	,,	0,8,6393	AA,AG,GG		0.0,0.1856,0.0625	,,	373/487,,373/487	43272926	8,12794	2155	4246	6401	SO:0001819	synonymous_variant	11252				actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity	g.chr22:43272926G>A	AF128536	CCDS43023.1, CCDS54536.1	22q13.2-q13.33	2009-05-08			ENSG00000100266	ENSG00000100266			8571	protein-coding gene	gene with protein product	"""syndapin II"""	604960				10431838, 11082044	Standard	NM_007229		Approved	SDPII	uc003bdg.4	Q9UNF0	OTTHUMG00000150701	ENST00000263246.3:c.1119C>T	22.37:g.43272926G>A						PACSIN2_ENST00000402229.1_Silent_p.T373T|PACSIN2_ENST00000496919.1_5'UTR|PACSIN2_ENST00000407585.1_Intron|PACSIN2_ENST00000403744.3_Silent_p.T373T|PACSIN2_ENST00000337959.4_Intron	p.T373T	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN			9	1320	-		Glioma(61;0.222)	373					O95921|Q96HV9|Q9H0D3|Q9NPN1|Q9Y4V2	Silent	SNP	ENST00000263246.3	37	c.1119C>T	CCDS43023.1																																																																																				0.567	PACSIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319665.1	NM_007229		167	622	0	0	0	1	0	167	622				
SDHAP1	255812	broad.mit.edu	37	3	195717061	195717061	+	RNA	SNP	C	C	A	rs182566717		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:195717061C>A	ENST00000427841.1	-	0	89					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		AGGGACTCACCGCCTTGGCCA	0.791																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195717061C>A	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195717061C>A								NR_003264.2						0	89	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.791	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			7	25	1	0	5.18039e-06	1	5.28001e-06	7	25				
LAMA1	284217	broad.mit.edu	37	18	7036029	7036029	+	Missense_Mutation	SNP	G	G	A	rs148234507	byFrequency	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr18:7036029G>A	ENST00000389658.3	-	13	1889	c.1796C>T	c.(1795-1797)aCg>aTg	p.T599M		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	599	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ACTGTCTACCGTCTCTACCGG	0.448																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(1795-1797)aCg>aTg		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	G	MET/THR	4,4402	8.1+/-20.4	0,4,2199	184.0	129.0	147.0		1796	5.8	0.1	18	dbSNP_134	147	2,8598	2.2+/-6.3	0,2,4298	yes	missense	LAMA1	NM_005559.3	81	0,6,6497	AA,AG,GG		0.0233,0.0908,0.0461	probably-damaging	599/3076	7036029	6,13000	2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7036029G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.1796C>T	18.37:g.7036029G>A	ENSP00000374309:p.Thr599Met						p.T599M	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			13	1889	-		Colorectal(10;0.172)	599			Laminin IV type A 1.			Missense_Mutation	SNP	ENST00000389658.3	37	c.1796C>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249824	0.59212	9.08E-4	2.33E-4	ENSG00000101680	ENST00000389658	T	0.18502	2.21	5.78	5.78	0.91487	Laminin B type IV (2);Laminin B, subgroup (1);	0.231983	0.41294	D	0.000914	T	0.24928	0.0605	L	0.34521	1.04	0.33087	D	0.537462	D	0.63880	0.993	P	0.55749	0.783	T	0.10268	-1.0637	10	0.46703	T	0.11	.	14.4364	0.67284	0.0:0.2615:0.7385:0.0	.	599	P25391	LAMA1_HUMAN	M	599	ENSP00000374309:T599M	ENSP00000374309:T599M	T	-	2	0	LAMA1	7026029	0.245000	0.23899	0.115000	0.21578	0.599000	0.36880	2.078000	0.41567	2.731000	0.93534	0.655000	0.94253	ACG		0.448	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		22	235	0	0	0	1	0	22	235				
IQSEC1	9922	broad.mit.edu	37	3	12983364	12983364	+	Splice_Site	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:12983364C>T	ENST00000273221.4	-	2	283	c.67G>A	c.(67-69)Gtc>Atc	p.V23I	IQSEC1_ENST00000473088.1_5'UTR	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	23					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCGCCCTCGACGCTGCAGAGG	0.672																																						ENST00000273221.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.e2-1		IQ motif and Sec7 domain 1							15.0	14.0	15.0					3																	12983364		2195	4292	6487	SO:0001630	splice_region_variant	9922				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity	g.chr3:12983364C>T	BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"""brefeldin A-resistant ARF-GEF2"""	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.66-1G>A	3.37:g.12983364C>T						IQSEC1_ENST00000473088.1_5'UTR	p.V23_splice	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN			2	283	-			23					O94863|Q96D85	Splice_Site	SNP	ENST00000273221.4	37	c.65_splice	CCDS33703.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.86|14.86	2.660482|2.660482	0.47572|0.47572	.|.	.|.	ENSG00000144711|ENSG00000144711	ENST00000450726|ENST00000273221;ENST00000435445;ENST00000429247	.|T;T	.|0.78126	.|-1.15;2.09	4.31|4.31	3.44|3.44	0.39384|0.39384	.|.	.|0.000000	.|0.64402	.|D	.|0.000004	D|D	0.86752|0.86752	0.6008|0.6008	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.997	.|D;P	.|0.71184	.|0.972;0.686	D|D	0.87790|0.87790	0.2618|0.2618	4|9	.|0.72032	.|D	.|0.01	.|.	12.166|12.166	0.54131|0.54131	0.0:0.9167:0.0:0.0833|0.0:0.9167:0.0:0.0833	.|.	.|9;23	.|E9PG60;Q6DN90	.|.;IQEC1_HUMAN	H|I	23|23;9;9	.|ENSP00000273221:V23I;ENSP00000402299:V9I	.|ENSP00000273221:V23I	R|V	-|-	2|1	0|0	IQSEC1|IQSEC1	12958364|12958364	1.000000|1.000000	0.71417|0.71417	0.015000|0.015000	0.15790|0.15790	0.003000|0.003000	0.03518|0.03518	5.910000|5.910000	0.69931|0.69931	1.035000|1.035000	0.39972|0.39972	-0.136000|-0.136000	0.14681|0.14681	CGT|GTC		0.672	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	NM_014869	Missense_Mutation	7	49	0	0	0	1	0	7	49				
SYF2	25949	broad.mit.edu	37	1	25555531	25555531	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:25555531delT	ENST00000236273.4	-	3	241	c.216delA	c.(214-216)aaafs	p.K72fs	SYF2_ENST00000476231.1_5'Flank|SYF2_ENST00000354361.3_Intron	NM_015484.4	NP_056299.1	O95926	SYF2_HUMAN	SYF2 pre-mRNA-splicing factor	72					embryonic organ development (GO:0048568)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|mitotic G2 DNA damage checkpoint (GO:0007095)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(4)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)		CCAAACGAGCTTTTTTGGCTT	0.348																																						ENST00000236273.4																			0				kidney(1)|large_intestine(1)|lung(4)	6						c.(214-216)aafs		SYF2 pre-mRNA-splicing factor							156.0	162.0	160.0					1																	25555531		2202	4300	6502	SO:0001589	frameshift_variant	25949					catalytic step 2 spliceosome		g.chr1:25555531delT	AF273089	CCDS258.1, CCDS259.1	1p36.11	2013-08-21	2013-08-21	2005-09-14	ENSG00000117614	ENSG00000117614			19824	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 29"""	607090	"""CCNDBP1 interactor"", ""SYF2 homolog, RNA splicing factor (S. cerevisiae)"""	CBPIN		11118353	Standard	NM_207170		Approved	p29, DKFZp564O2082, NTC31, fSAP29	uc001bjt.1	O95926	OTTHUMG00000043610	ENST00000236273.4:c.216delA	1.37:g.25555531delT	ENSP00000236273:p.Lys72fs					SYF2_ENST00000354361.3_Intron	p.K72fs	NM_015484.4	NP_056299.1	O95926	SYF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)	3	241	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	72					Q5TH73	Frame_Shift_Del	DEL	ENST00000236273.4	37	c.216delA	CCDS259.1																																																																																				0.348	SYF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000101962.1	NM_015484		7	657						7	657	---	---	---	---
NBPF10	100132406	broad.mit.edu	37	1	145367736	145367737	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:145367736_145367737insA	ENST00000342960.5	+	83	10367_10368	c.10332_10333insA	c.(10333-10335)aaafs	p.K3445fs	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		aggggaaggggaaaaaaagaag	0.416																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10330-10335)ggaaaafs		neuroblastoma breakpoint family, member 10																																				SO:0001589	frameshift_variant	100132406							g.chr1:145367736_145367737insA	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10339dupA	1.37:g.145367743_145367743dupA	ENSP00000345684:p.Lys3445fs					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.GK3444fs	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10367_10368	+	all_hematologic(923;0.032)		3444					Q5RHC0|Q9NWN6	Frame_Shift_Ins	INS	ENST00000342960.5	37	c.10332_10333insA	CCDS53355.1																																																																																				0.416	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		7	622						7	622	---	---	---	---
PI4KB	5298	broad.mit.edu	37	1	151265430	151265432	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:151265430_151265432delCTC	ENST00000368873.1	-	12	2515_2517	c.2347_2349delGAG	c.(2347-2349)gagdel	p.E783del	PI4KB_ENST00000368875.2_In_Frame_Del_p.E795del|PI4KB_ENST00000271657.5_In_Frame_Del_p.E795del|PI4KB_ENST00000529142.1_In_Frame_Del_p.E451del|PI4KB_ENST00000368874.4_In_Frame_Del_p.E768del|PI4KB_ENST00000368872.1_In_Frame_Del_p.E768del			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	783					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCTGCAGCTGCTCCTCAGTCATG	0.542																																					Colon(154;765 1838 9854 28443 37492)	ENST00000368875.2																			0				breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(2383-2385)del		phosphatidylinositol 4-kinase, catalytic, beta																																				SO:0001651	inframe_deletion	5298				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr1:151265430_151265432delCTC	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.2347_2349delGAG	1.37:g.151265433_151265435delCTC	ENSP00000357867:p.Glu783del					PI4KB_ENST00000271657.5_In_Frame_Del_p.E795del|PI4KB_ENST00000529142.1_In_Frame_Del_p.E451del|PI4KB_ENST00000368874.4_In_Frame_Del_p.E768del|PI4KB_ENST00000368872.1_In_Frame_Del_p.E768del|PI4KB_ENST00000368873.1_In_Frame_Del_p.E783del	p.E795del	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		13	2963_2965	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		783					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	In_Frame_Del	DEL	ENST00000368873.1	37	c.2383_2385delGAG																																																																																					0.542	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		62	381						62	381	---	---	---	---
SLC11A1	6556	broad.mit.edu	37	2	219252307	219252307	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:219252307delT	ENST00000233202.6	+	7	931	c.591delT	c.(589-591)gctfs	p.A197fs	SLC11A1_ENST00000539932.1_Frame_Shift_Del_p.A79fs	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	197					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTGGAAGCTTTTTTTGGAC	0.448																																						ENST00000233202.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(589-591)gcfs		solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1							305.0	318.0	314.0					2																	219252307		2203	4300	6503	SO:0001589	frameshift_variant	6556				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity	g.chr2:219252307delT	D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"""Solute carriers"""	10907	protein-coding gene	gene with protein product	"""natural resistance-associated macrophage protein 1"""	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.591delT	2.37:g.219252307delT	ENSP00000233202:p.Ala197fs					SLC11A1_ENST00000539932.1_Frame_Shift_Del_p.A79fs	p.A197fs	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	931	+		Renal(207;0.0474)	197					C0H5Y3	Frame_Shift_Del	DEL	ENST00000233202.6	37	c.591delT	CCDS2415.1																																																																																				0.448	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	NM_000578		8	2055						8	2055	---	---	---	---
AC114765.1	0	broad.mit.edu	37	2	221183172	221183173	+	lincRNA	DEL	AC	AC	-	rs201935441|rs144515499		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:221183172_221183173delAC	ENST00000432993.1	+	0	306																											ccttgtgcctacacacacacac	0.525																																						ENST00000432993.1																			0																																																			0							g.chr2:221183172_221183173delAC																													2.37:g.221183182_221183183delAC														0	306	+									RNA	DEL	ENST00000432993.1	37																																																																																						0.525	AC114765.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000332708.1			2	4						2	4	---	---	---	---
FIP1L1	81608	broad.mit.edu	37	4	54319248	54319249	+	Frame_Shift_Del	DEL	AG	AG	-	rs143671659		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr4:54319248_54319249delAG	ENST00000337488.6	+	16	1641_1642	c.1447_1448delAG	c.(1447-1449)agafs	p.R483fs	FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs|FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	483	Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R487fs*3(2)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			agaACGCACCAGAGAGAGAGAG	0.47			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	ENST00000337488.6				Dom	yes		4	4q12	81608	T	FIP1 like 1 (S. cerevisiae)			L	PDGFRA		idiopathic hypereosinophilic syndrome		2	Deletion - Frameshift(2)	p.R487fs*3(2)	large_intestine(1)|kidney(1)	large_intestine(3)|liver(1)|ovary(1)|skin(1)	6						c.(1447-1449)afs		factor interacting with PAPOLA and CPSF1																																				SO:0001589	frameshift_variant	81608				mRNA processing	nucleus	RNA binding	g.chr4:54319248_54319249delAG	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1447_1448delAG	4.37:g.54319258_54319259delAG	ENSP00000336752:p.Arg483fs					FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs|FIP1L1_ENST00000507166.1_Intron	p.R483fs	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)		16	1641_1642	+			483			Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Frame_Shift_Del	DEL	ENST00000337488.6	37	c.1447_1448delAG	CCDS3491.1																																																																																				0.470	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917		9	318						9	318	---	---	---	---
RP11-525J21.1	0	broad.mit.edu	37	4	60636292	60636293	+	lincRNA	DEL	TG	TG	-	rs554249165|rs371256242	byFrequency	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr4:60636292_60636293delTG	ENST00000511603.1	-	0	341																											CATGACAGAAtgtgtgtgtgtg	0.327														644	0.128594	0.2118	0.1124	5008	,	,		15710	0.0397		0.1262	False		,,,				2504	0.1217					ENST00000511603.1																			0																																																			0							g.chr4:60636292_60636293delTG																													4.37:g.60636302_60636303delTG														0	341	-									RNA	DEL	ENST00000511603.1	37																																																																																						0.327	RP11-525J21.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000365891.2			4	3						4	3	---	---	---	---
MAML3	55534	broad.mit.edu	37	4	140811064	140811072	+	In_Frame_Del	DEL	TGCTGCTGC	TGCTGCTGC	-	rs58015886|rs370122702		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr4:140811064_140811072delTGCTGCTGC	ENST00000509479.2	-	2	2374_2382	c.1518_1526delGCAGCAGCA	c.(1516-1527)cagcagcagcaa>caa	p.506_509QQQQ>Q	MAML3_ENST00000327122.5_In_Frame_Del_p.350_353QQQQ>Q|MAML3_ENST00000398940.1_Splice_Site_p.A37del	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TGAGtgctgttgctgctgctgctgctgct	0.517																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1516-1527)caa>ca		mastermind-like 3 (Drosophila)																																				SO:0001651	inframe_deletion	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811064_140811072delTGCTGCTGC	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1518_1526delGCAGCAGCA	4.37:g.140811073_140811081delTGCTGCTGC	ENSP00000421180:p.Gln506_Gln508del					MAML3_ENST00000327122.5_In_Frame_Del_p.QQQQ350del|MAML3_ENST00000398940.1_Splice_Site_p.37_splice	p.QQQQ506del	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2374_2382	-	all_hematologic(180;0.162)		506			Gln-rich.			In_Frame_Del	DEL	ENST00000509479.2	37	c.1518_1526delGCAGCAGCA	CCDS54805.1																																																																																				0.517	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			9	401						9	401	---	---	---	---
CSNK1G3	1456	broad.mit.edu	37	5	122881495	122881495	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr5:122881495delA	ENST00000361991.2	+	1	168	c.138delA	c.(136-138)ggafs	p.G46fs	CSNK1G3_ENST00000360683.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000395412.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000510842.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000345990.4_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000395411.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000521364.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000508708.1_3'UTR|CSNK1G3_ENST00000512718.3_Intron			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	46	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		TTAGAGTTGGAAAAAAAATTG	0.363																																					Pancreas(187;2868 2964 4353 6297)	ENST00000395412.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15						c.(136-138)ggfs		casein kinase 1, gamma 3							102.0	101.0	101.0					5																	122881495		2203	4300	6503	SO:0001589	frameshift_variant	1456				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr5:122881495delA	AF049090	CCDS4135.1, CCDS34218.1, CCDS43355.1, CCDS59491.1, CCDS59492.1, CCDS59493.1	5q23	2013-01-17			ENSG00000151292	ENSG00000151292			2456	protein-coding gene	gene with protein product		604253				9925945	Standard	NM_004384		Approved		uc031skv.1	Q9Y6M4	OTTHUMG00000128923	ENST00000361991.2:c.138delA	5.37:g.122881495delA	ENSP00000354942:p.Gly46fs					CSNK1G3_ENST00000361991.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000508708.1_3'UTR|CSNK1G3_ENST00000521364.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000345990.4_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000395411.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000360683.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000510842.2_Frame_Shift_Del_p.G46fs	p.G46fs	NM_001044723.1	NP_001038188.1	Q9Y6M4	KC1G3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)	2	857	+		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	46			Protein kinase.		A8K040|B4DSH2|B7Z9Q4|E7EVD0|Q86WZ7|Q9Y6M3	Frame_Shift_Del	DEL	ENST00000361991.2	37	c.138delA	CCDS4135.1																																																																																				0.363	CSNK1G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250900.1	NM_004384		7	497						7	497	---	---	---	---
HDGFL1	154150	broad.mit.edu	37	6	22570346	22570347	+	In_Frame_Ins	INS	-	-	GGC	rs370190435|rs536582109	byFrequency	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr6:22570346_22570347insGGC	ENST00000230012.3	+	1	669_670	c.542_543insGGC	c.(541-546)agggcg>agGGCggcg	p.188_189insA	HDGFL1_ENST00000510882.2_In_Frame_Ins_p.188_189insA	NM_138574.2	NP_612641.2	Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	188	Ala-rich.|Glu-rich.									kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					gaagcggagagggcggcggcgg	0.767														170	0.0339457	0.0182	0.049	5008	,	,		12340	0.0159		0.0547	False		,,,				2504	0.0419					ENST00000510882.2																			0				kidney(1)|large_intestine(3)|lung(7)	11						c.(541-543)agc>aGGCgc		hepatoma derived growth factor-like 1																																				SO:0001652	inframe_insertion	154150							g.chr6:22570346_22570347insGGC	AK056824	CCDS34347.1	6p22.2	2008-02-05	2005-04-07	2005-04-07	ENSG00000112273	ENSG00000112273			21095	protein-coding gene	gene with protein product			"""PWWP domain containing 1"""	PWWP1			Standard	NM_138574		Approved	dJ309H15.1	uc003nds.3	Q5TGJ6	OTTHUMG00000016206	ENST00000230012.3:c.561_563dupGGC	6.37:g.22570353_22570355dupGGC	ENSP00000230012:p.Ala189_Ala190dup					HDGFL1_ENST00000230012.3_In_Frame_Ins_p.181_181S>RR	p.181_181S>RR			Q5TGJ6	HDGL1_HUMAN			1	552_553	+	Ovarian(93;0.163)		181			Ala-rich.|Glu-rich.		Q96MJ6	In_Frame_Ins	INS	ENST00000230012.3	37	c.542_543insGGC	CCDS34347.1																																																																																				0.767	HDGFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043500.1	NM_138574		5	6						5	6	---	---	---	---
ZMIZ2	83637	broad.mit.edu	37	7	44805118	44805119	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr7:44805118_44805119insC	ENST00000309315.4	+	16	2305_2306	c.2182_2183insC	c.(2182-2184)gccfs	p.A728fs	ZMIZ2_ENST00000441627.1_Frame_Shift_Ins_p.A728fs|ZMIZ2_ENST00000265346.7_Frame_Shift_Ins_p.A702fs|ZMIZ2_ENST00000433667.1_Frame_Shift_Ins_p.A696fs|ZMIZ2_ENST00000413916.1_Frame_Shift_Ins_p.A670fs	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	728	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCCGGCGCTGCCCCCTTTGCC	0.698																																					NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2182-2184)cccfs		zinc finger, MIZ-type containing 2			,	11,3615		0,11,1802					,	-2.1	0.1			11	52,7754		0,52,3851	no	frameshift,frameshift	ZMIZ2	NM_174929.2,NM_031449.3	,	0,63,5653	A1A1,A1R,RR		0.6662,0.3034,0.5511	,	,		63,11369				SO:0001589	frameshift_variant	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44805118_44805119insC	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.2187dupC	7.37:g.44805123_44805123dupC	ENSP00000311778:p.Ala728fs					ZMIZ2_ENST00000433667.1_Frame_Shift_Ins_p.P696fs|ZMIZ2_ENST00000265346.7_Frame_Shift_Ins_p.P702fs|ZMIZ2_ENST00000413916.1_Frame_Shift_Ins_p.P670fs|ZMIZ2_ENST00000441627.1_Frame_Shift_Ins_p.P728fs	p.P728fs	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN			16	2305_2306	+			728			Pro-rich.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Frame_Shift_Ins	INS	ENST00000309315.4	37	c.2182_2183insC	CCDS43576.1																																																																																				0.698	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		10	88						10	88	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82595385	82595385	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr7:82595385delT	ENST00000333891.9	-	4	4056	c.3719delA	c.(3718-3720)aagfs	p.K1240fs	PCLO_ENST00000423517.2_Frame_Shift_Del_p.K1240fs	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGGGGTTGGCTTTTTTTCTTC	0.383																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(3718-3720)agfs		piccolo presynaptic cytomatrix protein							241.0	235.0	237.0					7																	82595385		1809	4074	5883	SO:0001589	frameshift_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82595385delT	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3719delA	7.37:g.82595385delT	ENSP00000334319:p.Lys1240fs					PCLO_ENST00000333891.8_Frame_Shift_Del_p.K1240fs	p.K1240fs	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			4	4056	-			1179						Frame_Shift_Del	DEL	ENST00000333891.9	37	c.3719delA	CCDS47630.1																																																																																				0.383	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		8	1670						8	1670	---	---	---	---
BMP1	649	broad.mit.edu	37	8	22020159	22020161	+	5'Flank	DEL	GTG	GTG	-	rs183533911	byFrequency	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr8:22020159_22020161delGTG	ENST00000306385.5	+	0	0				SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000524255.1_Intron|SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del|SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del|BMP1_ENST00000354870.5_5'Flank|BMP1_ENST00000397816.3_5'Flank|BMP1_ENST00000306349.8_5'Flank|BMP1_ENST00000397814.3_5'Flank|SFTPC_ENST00000521315.1_In_Frame_Del_p.V44del|SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CCTTCTTATCGTGGTGGTGGTGG	0.601																																						ENST00000521315.1																			0				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3						c.(115-117)del		surfactant protein C																																				SO:0001631	upstream_gene_variant	6440				respiratory gaseous exchange	extracellular space		g.chr8:22020159_22020161delGTG		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761		8.37:g.22020168_22020170delGTG	Exception_encountered					SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del|SFTPC_ENST00000524255.1_Intron|SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del|SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del	p.V44del			P11686	PSPC_HUMAN		Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	2	147_149	+			44					A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	In_Frame_Del	DEL	ENST00000306385.5	37	c.115_117delGTG	CCDS6026.1																																																																																				0.601	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		7	767						7	767	---	---	---	---
RP11-10H3.1	0	broad.mit.edu	37	8	50103352	50103355	+	lincRNA	DEL	CCTC	CCTC	-	rs77568781|rs551905740|rs142870168	byFrequency	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr8:50103352_50103355delCCTC	ENST00000518222.1	+	0	271																											ttctttccttcctccctccctccc	0.402																																						ENST00000518222.1																			0																																																			0							g.chr8:50103352_50103355delCCTC																													8.37:g.50103360_50103363delCCTC														0	271	+									RNA	DEL	ENST00000518222.1	37																																																																																						0.402	RP11-10H3.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000377820.1			8	20						8	20	---	---	---	---
ZNF503	84858	broad.mit.edu	37	10	77161100	77161101	+	In_Frame_Ins	INS	-	-	CCGCCTCCGCCT	rs533859340|rs374168185	byFrequency	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr10:77161100_77161101insCCGCCTCCGCCT	ENST00000372524.4	-	1	563_564	c.77_78insAGGCGGAGGCGG	c.(76-78)ggc>ggAGGCGGAGGCGGc	p.26_26G>GGGGG	ZNF503-AS2_ENST00000425916.3_RNA|ZNF503-AS2_ENST00000486015.1_RNA|RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503-AS2_ENST00000466942.2_RNA|ZNF503_ENST00000535216.1_In_Frame_Ins_p.26_26G>GGGGG	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	26	Gly-rich.				G1 to G0 transition involved in cell differentiation (GO:0070315)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|neural precursor cell proliferation (GO:0061351)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					GGTCTGCAccgccgcctccgcc	0.713																																						ENST00000372524.4																			0				lung(4)|ovary(1)|skin(1)	6						c.(76-78)ggg>gAGGCGGAGGCGGgg		zinc finger protein 503																																				SO:0001652	inframe_insertion	84858				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr10:77161100_77161101insCCGCCTCCGCCT	AK127647	CCDS7350.1	10q22.3	2011-02-09			ENSG00000165655	ENSG00000165655		"""Zinc fingers, C2H2-type"""	23589	protein-coding gene	gene with protein product		613902				12477932	Standard	NM_032772		Approved	FLJ45745, MGC2555	uc001jxg.3	Q96F45	OTTHUMG00000018526	ENST00000372524.4:c.66_77dupAGGCGGAGGCGG	10.37:g.77161100_77161101insCCGCCTCCGCCT	ENSP00000361602:p.GlyGlyGlyGly26dup					ZNF503_ENST00000535216.1_In_Frame_Ins_p.25_26insEAEA	p.25_26insEAEA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN			1	563_564	-	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)		25			Gly-rich.		Q8NAC5|Q96E25|Q96IJ0	In_Frame_Ins	INS	ENST00000372524.4	37	c.77_78insAGGCGGAGGCGG	CCDS7350.1																																																																																				0.713	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048826.1	NM_032772		7	25						7	25	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	13768140	13768141	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:13768140_13768141insC	ENST00000609686.1	-	7	1770_1771	c.1561_1562insG	c.(1561-1563)gagfs	p.E521fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	521					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.E521K(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTCGACCACCTCCGATCGTTCC	0.5																																						ENST00000279593.3																			1	Substitution - Missense(1)	p.E521K(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(1561-1563)ggtfs		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)																																			SO:0001589	frameshift_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13768140_13768141insC		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1562dupG	12.37:g.13768142_13768142dupC	ENSP00000477455:p.Glu521fs						p.G521fs	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			7	1770_1771	-			521					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Frame_Shift_Ins	INS	ENST00000609686.1	37	c.1561_1562insG	CCDS8662.1																																																																																				0.500	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			9	362						9	362	---	---	---	---
TMBIM4	51643	broad.mit.edu	37	12	66531937	66531937	+	Frame_Shift_Del	DEL	A	A	-	rs199863727	byFrequency	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:66531937delA	ENST00000358230.3	-	7	640	c.520delT	c.(520-522)tatfs	p.Y174fs	TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000542724.1_Frame_Shift_Del_p.Y143fs|TMBIM4_ENST00000286424.7_Frame_Shift_Del_p.Y221fs|TMBIM4_ENST00000398033.4_Frame_Shift_Del_p.F158fs|TMBIM4_ENST00000539652.1_Intron|TMBIM4_ENST00000556010.1_Intron	NM_016056.2	NP_057140.2	Q9HC24	LFG4_HUMAN	transmembrane BAX inhibitor motif containing 4	174					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|regulation of calcium-mediated signaling (GO:0050848)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		ATCTCACTATAAAAAAAAAAC	0.353																																						ENST00000358230.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9						c.(520-522)atfs		transmembrane BAX inhibitor motif containing 4				30,27,3421		0,0,30,0,27,1682	40.0	38.0	38.0			6.2	0.1	12		41	61,77,7666		0,0,61,0,77,3764	no	codingComplex	TMBIM4	NM_016056.2		0,0,91,0,104,5446	A1A1,A1A2,A1R,A2A2,A2R,RR		1.7683,1.6389,1.7284			66531937	91,104,11087	1806	4076	5882	SO:0001589	frameshift_variant	51643					integral to membrane	protein binding	g.chr12:66531937delA	AF113127	CCDS41805.1, CCDS61187.1, CCDS73493.1	12q14.3	2014-05-09			ENSG00000155957	ENSG00000155957			24257	protein-coding gene	gene with protein product						11042152, 10810093	Standard	NM_001282609		Approved	CGI-119, S1R, ZPRO, LFG4, GAAP	uc001stc.3	Q9HC24	OTTHUMG00000168973	ENST00000358230.3:c.520delT	12.37:g.66531937delA	ENSP00000350965:p.Tyr174fs					TMBIM4_ENST00000542724.1_Frame_Shift_Del_p.Y143fs|TMBIM4_ENST00000286424.7_Frame_Shift_Del_p.Y221fs|TMBIM4_ENST00000398033.4_Frame_Shift_Del_p.F158fs|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000556010.1_Intron|TMBIM4_ENST00000539652.1_Intron	p.Y174fs	NM_016056.2	NP_057140.2	Q9HC24	TMBI4_HUMAN		GBM - Glioblastoma multiforme(28;0.0745)	7	640	-			174					Q542Z6|Q9UHY5|Q9Y3C2	Frame_Shift_Del	DEL	ENST00000358230.3	37	c.520delT	CCDS41805.1																																																																																				0.353	TMBIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401832.2	NM_016056		7	193						7	193	---	---	---	---
LINC00381	100874151	broad.mit.edu	37	13	74993520	74993535	+	5'Flank	DEL	CTTCCTTCCTTCCTTT	CTTCCTTCCTTCCTTT	-	rs377449167|rs148289511|rs144361595|rs141656485|rs138981538|rs71216523|rs555882166|rs9573382		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr13:74993520_74993535delCTTCCTTCCTTCCTTT	ENST00000325811.1	-	0	0				LINC00381_ENST00000423629.1_RNA																							ccctcccttccttccttccttcctttcttccttcct	0.542																																						ENST00000423629.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr13:74993520_74993535delCTTCCTTCCTTCCTTT																													13.37:g.74993520_74993535delCTTCCTTCCTTCCTTT	Exception_encountered							NR_047005.1						0	56	+									RNA	DEL	ENST00000325811.1	37																																																																																						0.542	AL355390.1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				7	26						7	26	---	---	---	---
RP11-305B6.3	0	broad.mit.edu	37	14	44690412	44690415	+	lincRNA	DEL	GAAG	GAAG	-	rs543118236|rs369877764	byFrequency	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr14:44690412_44690415delGAAG	ENST00000553827.1	-	0	69																											GTAGAAAGAAgaaggaaggaagga	0.412														1942	0.38778	0.1838	0.4885	5008	,	,		11930	0.4058		0.499	False		,,,				2504	0.4591					ENST00000553827.1																			0																																																			0							g.chr14:44690412_44690415delGAAG																													14.37:g.44690420_44690423delGAAG														0	69	-									RNA	DEL	ENST00000553827.1	37																																																																																						0.412	RP11-305B6.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000410013.1			4	7						4	7	---	---	---	---
IGHV4-39	28394	broad.mit.edu	37	14	106877821	106877826	+	RNA	DEL	CTACTG	CTACTG	-	rs371574132|rs587704823|rs377249313|rs587658822|rs587600484|rs374128985|rs587603411	byFrequency	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr14:106877821_106877826delCTACTG	ENST00000390619.2	-	0	217_222									immunoglobulin heavy variable 4-39																		GTAGTAACTACTACTGCTGATGGAGC	0.607																																						ENST00000390619.2																			0																	59,3537		4,51,1743						-0.2	0.0		dbSNP_134	57	122,7696		12,98,3799	no	intergenic				16,149,5542	A1A1,A1R,RR		1.5605,1.6407,1.5858				181,11233						0							g.chr14:106877821_106877826delCTACTG	L10094		14q32.33	2012-02-08			ENSG00000211959	ENSG00000211959		"""Immunoglobulins / IGH locus"""	5651	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152067		14.37:g.106877821_106877826delCTACTG														0	217_222	-									RNA	DEL	ENST00000390619.2	37																																																																																						0.607	IGHV4-39-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325161.1	NG_001019		12	422						12	422	---	---	---	---
SORD2P	653381	broad.mit.edu	37	15	45119226	45119227	+	lincRNA	INS	-	-	TG	rs201470100		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr15:45119226_45119227insTG	ENST00000558419.1	+	0	358_359				CTD-2008A1.2_ENST00000561384.2_RNA																							GATCCCGAGACTGGGGATGAGG	0.446																																						ENST00000558419.1																			0																																																			0							g.chr15:45119226_45119227insTG																													15.37:g.45119227_45119228dupTG														0	358_359	+									RNA	INS	ENST00000558419.1	37																																																																																						0.446	CTD-2008A1.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000416183.1			2	4						2	4	---	---	---	---
ATP8B4	79895	broad.mit.edu	37	15	50193367	50193368	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr15:50193367_50193368insT	ENST00000284509.6	-	21	2351_2352	c.2210_2211insA	c.(2209-2211)aagfs	p.K737fs	ATP8B4_ENST00000559829.1_Frame_Shift_Ins_p.K737fs	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	737						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CCAGCTGCTGCTTTTTTTCACA	0.361																																						ENST00000284509.6																			0				breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.(2209-2211)acafs		ATPase, class I, type 8B, member 4																																				SO:0001589	frameshift_variant	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50193367_50193368insT	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.2211dupA	15.37:g.50193374_50193374dupT	ENSP00000284509:p.Lys737fs					ATP8B4_ENST00000559829.1_Frame_Shift_Ins_p.T737fs	p.T737fs	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	21	2351_2352	-		all_lung(180;0.00183)	737					Q9H727	Frame_Shift_Ins	INS	ENST00000284509.6	37	c.2210_2211insA	CCDS32238.1																																																																																				0.361	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		42	252						42	252	---	---	---	---
AC002519.6	0	broad.mit.edu	37	16	31815184	31815185	+	RNA	INS	-	-	AC	rs10655372|rs66670498|rs376388173|rs62054744	byFrequency	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr16:31815184_31815185insAC	ENST00000569756.1	+	0	413																											Tacacacacatacacacacaca	0.391																																						ENST00000569756.1																			0																																																			0							g.chr16:31815184_31815185insAC																													16.37:g.31815193_31815194dupAC														0	413	+									RNA	INS	ENST00000569756.1	37																																																																																						0.391	AC002519.6-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432915.1			4	6						4	6	---	---	---	---
RP11-361L15.4	0	broad.mit.edu	37	16	66982429	66982430	+	RNA	INS	-	-	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr16:66982429_66982430insT	ENST00000566869.1	+	0	147																											ACCAACCCACCTTTCCCGGCCC	0.673																																						ENST00000566869.1																			0																																																			0							g.chr16:66982429_66982430insT																													16.37:g.66982432_66982432dupT														0	147	+									RNA	INS	ENST00000566869.1	37																																																																																						0.673	RP11-361L15.4-001	KNOWN	NMD_likely_if_extended|basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000441531.1			22	315						22	315	---	---	---	---
CASC17	101928165	broad.mit.edu	37	17	69096441	69096444	+	lincRNA	DEL	ACAC	ACAC	-	rs572883309|rs56101558|rs34155814		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:69096441_69096444delACAC	ENST00000569074.1	-	0	215					NR_104152.1				cancer susceptibility candidate 17 (non-protein coding)																		acacacacatacacacacacacac	0.422																																						ENST00000569074.1																			0																																																			0							g.chr17:69096441_69096444delACAC	BC039327		17q24.3	2013-08-22			ENSG00000260785	ENSG00000260785		"""Long non-coding RNAs"""	43911	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 600"""						Standard	NR_104152		Approved	LINC00600			OTTHUMG00000176079		17.37:g.69096449_69096452delACAC														0	215	-									RNA	DEL	ENST00000569074.1	37																																																																																						0.422	CASC17-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000431480.1			5	5						5	5	---	---	---	---
GRIN2C	2905	broad.mit.edu	37	17	72839130	72839131	+	In_Frame_Ins	INS	-	-	GCTCCGGGG	rs139495021|rs56348130	byFrequency	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:72839130_72839131insGCTCCGGGG	ENST00000293190.5	-	13	3291_3292	c.3145_3146insCCCCGGAGC	c.(3145-3147)ctg>cCCCCGGAGCtg	p.1048_1049insPPE		NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	1048				E -> EPPE (in Ref. 3; AAI40802). {ECO:0000305}.	directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CAGGTCCTCCAGCTCCGGGAAG	0.762														3988	0.796326	0.8094	0.7954	5008	,	,		7028	0.7391		0.8946	False		,,,				2504	0.7372					ENST00000293190.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(3145-3147)gga>CCCCGGAGCgga		glutamate receptor, ionotropic, N-methyl D-aspartate 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)			563,191		274,15,88						3.0	0.8		dbSNP_130	1	1433,215		704,25,95	no	coding	GRIN2C	NM_000835.3		978,40,183	A1A1,A1R,RR		13.0461,25.3316,16.9026				1996,406				SO:0001652	inframe_insertion	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72839130_72839131insGCTCCGGGG		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.3145_3146insCCCCGGAGC	17.37:g.72839130_72839131insGCTCCGGGG	ENSP00000293190:p.Glu1048_Leu1049insProProGlu						p.1048_1049insPRS	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN			13	3291_3292	-	all_lung(278;0.172)|Lung NSC(278;0.207)		1048	E -> EPPE (in Ref. 3; AAI40802).				B2RTT1	In_Frame_Ins	INS	ENST00000293190.5	37	c.3145_3146insCCCCGGAGC	CCDS32724.1																																																																																				0.762	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			3	2						3	2	---	---	---	---
LYPD3	27076	broad.mit.edu	37	19	43969653	43969655	+	In_Frame_Del	DEL	AGC	AGC	-	rs141441894	byFrequency	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr19:43969653_43969655delAGC	ENST00000244333.3	-	1	157_159	c.69_71delGCT	c.(67-72)ctgctt>ctt	p.23_24LL>L		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	23					cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				ACCTCCGCGAAGCAGCAGCAGCA	0.675																																						ENST00000244333.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11						c.(67-72)ctt>ct		LY6/PLAUR domain containing 3																																				SO:0001651	inframe_deletion	27076					anchored to plasma membrane		g.chr19:43969653_43969655delAGC	AF082889	CCDS12620.1	19q13.31	2008-02-05				ENSG00000124466			24880	protein-coding gene	gene with protein product		609484				11179665, 11245483	Standard	NM_014400		Approved	C4.4A	uc002owl.1	O95274		ENST00000244333.3:c.69_71delGCT	19.37:g.43969662_43969664delAGC	ENSP00000244333:p.Leu24del						p.LL23del	NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN			1	157_159	-		Prostate(69;0.0153)	23					Q9UJ74	In_Frame_Del	DEL	ENST00000244333.3	37	c.69_71delGCT	CCDS12620.1																																																																																				0.675	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463177.1	NM_014400		12	886						12	886	---	---	---	---
APCDD1L-AS1	149773	broad.mit.edu	37	20	57159887	57159888	+	RNA	INS	-	-	CTTC	rs370736208|rs142796198		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr20:57159887_57159888insCTTC	ENST00000427140.1	+	0	943					NR_034147.1				APCDD1L antisense RNA 1 (head to head)																		ctcccttctttcttccttcctt	0.535																																						ENST00000427140.1																			0																																																			0							g.chr20:57159887_57159888insCTTC	AI077602, AK054637		20q13.32	2012-10-17	2012-10-17		ENSG00000231290	ENSG00000231290		"""Long non-coding RNAs"""	27152	non-coding RNA	RNA, long non-coding			"""APCDD1L antisense RNA 1 (non-protein coding)"", ""APCDD1L antisense RNA 1"""				Standard	NR_034147		Approved		uc002xzf.1		OTTHUMG00000032847		20.37:g.57159892_57159895dupCTTC								NR_034147.1						0	943	+									RNA	INS	ENST00000427140.1	37																																																																																						0.535	APCDD1L-AS1-001	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000079883.2	NR_034147		16	27						16	27	---	---	---	---
BIK	638	broad.mit.edu	37	22	43525245	43525247	+	In_Frame_Del	DEL	GCT	GCT	-	rs542081559		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr22:43525245_43525247delGCT	ENST00000216115.2	+	5	480_482	c.417_419delGCT	c.(415-420)gcgctg>gcg	p.L144del		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)	144	Leucine-zipper. {ECO:0000255}.				apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|male gonad development (GO:0008584)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				tgctgctggcgctgctgctgctg	0.724																																						ENST00000216115.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5						c.(415-420)gcg>gc		BCL2-interacting killer (apoptosis-inducing)				9,134,3841		1,0,7,18,98,1868						-8.8	0.0			26	9,256,7523		1,0,7,46,164,3676	no	codingComplex	BIK	NM_001197.4		2,0,14,64,262,5544	A1A1,A1A2,A1R,A2A2,A2R,RR		3.4027,3.5894,3.4659				18,390,11364				SO:0001651	inframe_deletion	638				apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	endomembrane system|integral to membrane		g.chr22:43525245_43525247delGCT	U34584	CCDS14044.1	22q13.31	2014-03-07			ENSG00000100290	ENSG00000100290			1051	protein-coding gene	gene with protein product		603392				7478623, 10591208	Standard	NM_001197		Approved	NBK	uc003bdk.3	Q13323	OTTHUMG00000150703	ENST00000216115.2:c.417_419delGCT	22.37:g.43525254_43525256delGCT	ENSP00000216115:p.Leu144del						p.AL139del	NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN			5	480_482	+		Ovarian(80;0.0694)	139			Leucine-zipper (Potential).		Q16582|Q6FH93	In_Frame_Del	DEL	ENST00000216115.2	37	c.417_419delGCT	CCDS14044.1																																																																																				0.724	BIK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319676.1	NM_001197		7	397						7	397	---	---	---	---
