#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
CEP131	22994	broad.mit.edu	37	17	79193819	79193819	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr17:79193819C>T	ENST00000269392.4	-	2	285	c.38G>A	c.(37-39)cGc>cAc	p.R13H	AZI1_ENST00000575907.1_Missense_Mutation_p.R13H|AZI1_ENST00000450824.2_Missense_Mutation_p.R13H|AZI1_ENST00000374782.3_Missense_Mutation_p.R13H	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		13					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TGCTGGGCTGCGCTCCGGGAC	0.662																																						ENST00000269392.4																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36						c.(37-39)cGc>cAc		5-azacytidine induced 1							55.0	55.0	55.0					17																	79193819		2203	4300	6503	SO:0001583	missense	22994				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		g.chr17:79193819C>T																												ENST00000269392.4:c.38G>A	17.37:g.79193819C>T	ENSP00000269392:p.Arg13His					AZI1_ENST00000450824.2_Missense_Mutation_p.R13H|AZI1_ENST00000374782.3_Missense_Mutation_p.R13H|AZI1_ENST00000575907.1_Missense_Mutation_p.R13H	p.R13H	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		2	285	-	all_neural(118;0.0804)|Melanoma(429;0.242)		13					A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	ENST00000269392.4	37	c.38G>A		.	.	.	.	.	.	.	.	.	.	C	12.96	2.093207	0.36952	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.22134	1.97;1.97;1.97	4.01	1.84	0.25277	.	0.295484	0.30428	N	0.009651	T	0.10937	0.0267	N	0.22421	0.69	0.09310	N	1	P;P;P;P	0.43542	0.566;0.77;0.81;0.566	B;B;B;B	0.36289	0.121;0.169;0.221;0.172	T	0.17167	-1.0378	10	0.72032	D	0.01	-9.9433	6.3592	0.21419	0.184:0.7096:0.0:0.1063	.	13;13;13;13	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	H	13	ENSP00000393583:R13H;ENSP00000363914:R13H;ENSP00000269392:R13H	ENSP00000269392:R13H	R	-	2	0	AZI1	76808414	0.149000	0.22717	0.008000	0.14137	0.004000	0.04260	1.170000	0.31883	0.739000	0.32628	0.462000	0.41574	CGC		0.662	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1			5	93	0	0	0	1	0	5	93				
PTPN5	84867	broad.mit.edu	37	11	18755102	18755102	+	Splice_Site	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr11:18755102C>T	ENST00000358540.2	-	10	1511		c.e10+1		PTPN5_ENST00000396170.1_Splice_Site|PTPN5_ENST00000396171.4_Splice_Site|PTPN5_ENST00000477854.1_Splice_Site|PTPN5_ENST00000396166.3_5'Flank|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396167.2_Splice_Site|PTPN5_ENST00000396168.1_Splice_Site	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						GGAATACGTACCCGGATGTAG	0.592																																						ENST00000396170.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						c.e10+1		protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)							157.0	146.0	150.0					11																	18755102		2199	4293	6492	SO:0001630	splice_region_variant	84867					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr11:18755102C>T	BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.1080+1G>A	11.37:g.18755102C>T						RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396168.1_Splice_Site|PTPN5_ENST00000396167.2_Splice_Site|PTPN5_ENST00000396171.4_Splice_Site|PTPN5_ENST00000477854.1_Splice_Site|PTPN5_ENST00000358540.2_Splice_Site		NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN			10	2249	-								B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Splice_Site	SNP	ENST00000358540.2	37		CCDS7845.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870548	0.91587	.	.	ENSG00000110786	ENST00000477854;ENST00000358540;ENST00000396170;ENST00000396171;ENST00000396167;ENST00000396168	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.773	0.96379	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPN5	18711678	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.420000	0.80191	2.677000	0.91161	0.655000	0.94253	.		0.592	PTPN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259196.2	NM_001039970	Intron	35	56	0	0	0	1	0	35	56				
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000420246.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR	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	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; 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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)	GCAGCGCTCATGGTGGGGGCA	0.642		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"""		217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(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						c.(535-537)cAt>cGt	Other conserved DNA damage response genes	tumor protein p53							47.0	47.0	47.0					17																	7578394		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.chr17:7578394T>C	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.536A>G	17.37:g.7578394T>C	ENSP00000269305:p.His179Arg	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_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR	p.H179R	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	668	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; 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.536A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		22	41	0	0	0	1	0	22	41				
REV3L	5980	broad.mit.edu	37	6	111631214	111631214	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr6:111631214G>A	ENST00000358835.3	-	31	9338	c.8884C>T	c.(8884-8886)Ctt>Ttt	p.L2962F	RP5-1112D6.8_ENST00000607434.1_RNA|REV3L_ENST00000368805.1_Missense_Mutation_p.L2962F|REV3L_ENST00000462119.1_5'UTR|REV3L_ENST00000368802.3_Missense_Mutation_p.L2962F|REV3L_ENST00000435970.1_Missense_Mutation_p.L2884F			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2962					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AGCTGGATAAGTGGTACTCCG	0.512								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(8650-8652)Ctt>Ttt	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							88.0	89.0	89.0					6																	111631214		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111631214G>A	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.8884C>T	6.37:g.111631214G>A	ENSP00000351697:p.Leu2962Phe					REV3L_ENST00000462119.1_5'UTR|RP5-1112D6.8_ENST00000607434.1_RNA|REV3L_ENST00000358835.3_Missense_Mutation_p.L2962F|REV3L_ENST00000368805.1_Missense_Mutation_p.L2962F|REV3L_ENST00000368802.3_Missense_Mutation_p.L2962F	p.L2884F			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	32	9466	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	2962					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.8650C>T	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798792	0.70567	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	5.46	5.46	0.80206	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.431455	0.24518	N	0.037834	T	0.41811	0.1175	M	0.82517	2.595	0.52099	D	0.999947	D	0.89917	1.0	D	0.97110	1.0	T	0.37596	-0.9699	10	0.62326	D	0.03	-6.8923	19.73	0.96179	0.0:0.0:1.0:0.0	.	2962	O60673	DPOLZ_HUMAN	F	2962;2962;2962;2884	ENSP00000357792:L2962F;ENSP00000357795:L2962F;ENSP00000351697:L2962F;ENSP00000402003:L2884F	ENSP00000351697:L2962F	L	-	1	0	REV3L	111737907	1.000000	0.71417	1.000000	0.80357	0.051000	0.14879	9.660000	0.98599	2.725000	0.93324	0.555000	0.69702	CTT		0.512	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		27	66	0	0	0	1	0	27	66				
ESX1	80712	broad.mit.edu	37	X	103498922	103498922	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chrX:103498922C>T	ENST00000372588.4	-	2	502	c.419G>A	c.(418-420)cGc>cAc	p.R140H		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	140					labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GCGGCGGCGGCGTTTCCTCTC	0.632																																					Pancreas(200;1705 2227 25194 28471 45274)	ENST00000372588.4																			0				endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						c.(418-420)cGc>cAc		ESX homeobox 1							34.0	34.0	34.0					X																	103498922		2203	4299	6502	SO:0001583	missense	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103498922C>T	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"""Homeoboxes / PRD class"""	14865	protein-coding gene	gene with protein product		300154	"""extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"""	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.419G>A	X.37:g.103498922C>T	ENSP00000361669:p.Arg140His						p.R140H	NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN			2	502	-			140					B0QYU3|Q7Z6K7	Missense_Mutation	SNP	ENST00000372588.4	37	c.419G>A	CCDS14516.1	.	.	.	.	.	.	.	.	.	.	c	19.71	3.878730	0.72294	.	.	ENSG00000123576	ENST00000372588	D	0.97303	-4.33	4.48	2.67	0.31697	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);	.	.	.	.	D	0.97813	0.9282	M	0.81112	2.525	0.33135	D	0.543584	D	0.89917	1.0	D	0.72338	0.977	D	0.97106	0.9801	9	0.87932	D	0	1.0992	7.0122	0.24869	0.0:0.724:0.1734:0.1026	.	140	Q8N693	ESX1_HUMAN	H	140	ENSP00000361669:R140H	ENSP00000361669:R140H	R	-	2	0	ESX1	103385578	1.000000	0.71417	0.828000	0.32881	0.104000	0.19210	2.448000	0.44926	0.599000	0.29845	0.534000	0.68092	CGC		0.632	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448		21	75	0	0	0	1	0	21	75				
FRG1B	284802	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496		TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	180								p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.E180G(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(538-540)gAa>gGa																																						SO:0001583	missense	0							g.chr20:29633900A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.539A>G	20.37:g.29633900A>G	ENSP00000278882:p.Glu180Gly					FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G	p.E180G							9	919	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.539A>G		.	.	.	.	.	.	.	.	.	.	a	9.128	1.010735	0.19277	.	.	ENSG00000149531	ENST00000278882;ENST00000358464	.	.	.	1.62	1.62	0.23740	.	.	.	.	.	T	0.41351	0.1155	.	.	.	0.21697	N	0.999586	.	.	.	.	.	.	T	0.36625	-0.9740	5	0.87932	D	0	.	7.2988	0.26408	1.0:0.0:0.0:0.0	rs60081496	.	.	.	G	180	.	ENSP00000278882:E180G	E	+	2	0	FRG1B	28247561	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	4.560000	0.60802	0.995000	0.38917	0.411000	0.27672	GAA		0.264	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	42	0	0	0	1	0	4	42				
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q					mastermind-like 3 (Drosophila)									p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542																																						ENST00000398940.1																			2	Substitution - coding silent(2)	p.Q497Q(2)	prostate(2)	breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.e1+1		mastermind-like 3 (Drosophila)							13.0	19.0	17.0					4																	140811099		2117	4226	6343	SO:0001630	splice_region_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811099C>T	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	ENST00000398940.1:c.108+1G>A	4.37:g.140811099C>T						MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q	p.Q36_splice			Q96JK9	MAML3_HUMAN			1	107	-	all_hematologic(180;0.162)		497						Splice_Site	SNP	ENST00000398940.1	37	c.108_splice																																																																																					0.542	MAML3-202	KNOWN	basic	protein_coding	protein_coding			Silent	5	45	0	0	0	1	0	5	45				
CASZ1	54897	broad.mit.edu	37	1	10715751	10715751	+	Silent	SNP	G	G	A	rs575650869		TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr1:10715751G>A	ENST00000377022.3	-	9	1937	c.1620C>T	c.(1618-1620)caC>caT	p.H540H	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Silent_p.H540H	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	540					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGTGGCAGCCGTGGTAGTAGA	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		19641	0.0		0.0	False		,,,				2504	0.001					ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(1618-1620)caC>caT		castor zinc finger 1							144.0	104.0	117.0					1																	10715751		2203	4300	6503	SO:0001819	synonymous_variant	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10715751G>A	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1620C>T	1.37:g.10715751G>A						CASZ1_ENST00000344008.5_Silent_p.H540H	p.H540H	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	9	1937	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	540					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	ENST00000377022.3	37	c.1620C>T	CCDS41246.1																																																																																				0.637	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		14	22	0	0	0	1	0	14	22				
ZAN	7455	broad.mit.edu	37	7	100348502	100348502	+	RNA	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr7:100348502C>T	ENST00000348028.3	+	0	1669				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCCCTCAGGACACCAACAGCC	0.647																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							31.0	33.0	32.0					7																	100348502		1956	4145	6101			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100348502C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100348502C>T						ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	1652	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	C	9.609	1.130827	0.21041	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.01947	4.54;4.54;4.54	4.24	0.286	0.15710	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.196730	0.25344	N	0.031346	T	0.01940	0.0061	L	0.32530	0.975	0.46954	D	0.99926	B;B	0.18013	0.02;0.025	B;B	0.20955	0.019;0.032	T	0.53121	-0.8483	10	0.42905	T	0.14	.	6.3703	0.21477	0.0:0.5678:0.0:0.4322	.	502;502	F5H0T8;Q9Y493	.;ZAN_HUMAN	Y	502	ENSP00000445943:H502Y;ENSP00000445091:H502Y;ENSP00000444427:H502Y	ENSP00000423579:H502Y	H	+	1	0	ZAN	100186438	0.196000	0.23350	0.337000	0.25536	0.605000	0.37080	0.358000	0.20216	0.138000	0.18790	-0.142000	0.14014	CAC		0.647	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		20	27	0	0	0	1	0	20	27				
TRIP11	9321	broad.mit.edu	37	14	92472717	92472717	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr14:92472717C>A	ENST00000267622.4	-	11	1976	c.1603G>T	c.(1603-1605)Gat>Tat	p.D535Y		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	535					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TCATTTAGATCTTGTTTCAGT	0.303			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1603-1605)Gat>Tat		thyroid hormone receptor interactor 11							67.0	62.0	64.0					14																	92472717		2202	4292	6494	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92472717C>A	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.1603G>T	14.37:g.92472717C>A	ENSP00000267622:p.Asp535Tyr						p.D535Y	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	1976	-			535					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.1603G>T	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.68|18.68	3.676361|3.676361	0.67928|0.67928	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.05319|.	3.46|.	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	0.261889|.	0.43579|.	D|.	0.000548|.	T|T	0.74382|0.74382	0.3709|0.3709	M|M	0.72894|0.72894	2.215|2.215	0.40810|0.40810	D|D	0.983413|0.983413	P;D|.	0.55800|.	0.928;0.973|.	P;P|.	0.56434|.	0.788;0.798|.	T|T	0.73500|0.73500	-0.3963|-0.3963	10|5	0.87932|.	D|.	0|.	.|.	15.4899|15.4899	0.75597|0.75597	0.0:0.7489:0.2511:0.0|0.0:0.7489:0.2511:0.0	.|.	271;535|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	Y|I	535;271|250	ENSP00000267622:D535Y|.	ENSP00000267622:D535Y|.	D|R	-|-	1|2	0|0	TRIP11|TRIP11	91542470|91542470	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.889000|0.889000	0.51656|0.51656	3.049000|3.049000	0.49869|0.49869	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAT|AGA		0.303	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			5	25	1	0	1.23904e-05	1	1.25601e-05	5	25				
OR8A1	390275	broad.mit.edu	37	11	124440650	124440650	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr11:124440650C>A	ENST00000284287.3	+	1	758	c.686C>A	c.(685-687)aCa>aAa	p.T229K		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	229					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		ACGAGCTTAACAGTTCTTGTT	0.498																																						ENST00000284287.3																			0				haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22						c.(685-687)aCa>aAa		olfactory receptor, family 8, subfamily A, member 1							117.0	113.0	114.0					11																	124440650		2201	4299	6500	SO:0001583	missense	390275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124440650C>A	BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"""GPCR / Class A : Olfactory receptors"""	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.686C>A	11.37:g.124440650C>A	ENSP00000284287:p.Thr229Lys						p.T229K	NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)	1	758	+		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	229					Q6IEW7|Q96RC6	Missense_Mutation	SNP	ENST00000284287.3	37	c.686C>A	CCDS31712.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.894264	0.33442	.	.	ENSG00000196119	ENST00000284287	T	0.38077	1.16	5.03	2.18	0.27775	GPCR, rhodopsin-like superfamily (1);	0.667620	0.13051	N	0.417660	T	0.53899	0.1825	M	0.88310	2.945	0.09310	N	1	P	0.45212	0.853	P	0.52267	0.694	T	0.47086	-0.9144	10	0.87932	D	0	.	7.0112	0.24863	0.0:0.5244:0.0:0.4756	.	229	Q8NGG7	OR8A1_HUMAN	K	229	ENSP00000284287:T229K	ENSP00000284287:T229K	T	+	2	0	OR8A1	123945860	0.000000	0.05858	0.026000	0.17262	0.441000	0.31987	-0.813000	0.04491	0.310000	0.22990	-0.133000	0.14855	ACA		0.498	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387062.1	NM_001005194		20	42	1	0	1.56452e-12	1	1.63063e-12	20	42				
MAP7	9053	broad.mit.edu	37	6	136710584	136710584	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr6:136710584G>A	ENST00000354570.3	-	4	726	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	MAP7_ENST00000438100.2_Missense_Mutation_p.R128W|MAP7_ENST00000432797.2_5'UTR|MAP7_ENST00000544465.1_Missense_Mutation_p.R91W|MAP7_ENST00000454590.1_Missense_Mutation_p.R128W	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	106					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CTCTTCTTCCGCTCTTCCAGG	0.527																																						ENST00000354570.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(316-318)Cgg>Tgg		microtubule-associated protein 7							119.0	115.0	116.0					6																	136710584		2203	4300	6503	SO:0001583	missense	9053				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	g.chr6:136710584G>A	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.316C>T	6.37:g.136710584G>A	ENSP00000346581:p.Arg106Trp					MAP7_ENST00000544465.1_Missense_Mutation_p.R91W|MAP7_ENST00000454590.1_Missense_Mutation_p.R128W|MAP7_ENST00000438100.2_Missense_Mutation_p.R128W|MAP7_ENST00000432797.2_5'UTR	p.R106W	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN		GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)	4	726	-	Colorectal(23;0.24)		106					B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	ENST00000354570.3	37	c.316C>T	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102169	0.56183	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	5.08	2.17	0.27698	.	0.000000	0.49916	D	0.000123	T	0.30479	0.0766	M	0.86502	2.82	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.997;0.997;0.999;0.997;0.981;0.999;0.997	T	0.37731	-0.9693	10	0.87932	D	0	-11.5277	14.2869	0.66251	0.0:0.0:0.6139:0.386	.	128;128;91;128;128;106;106	B7Z290;B7ZB64;F5H1E2;E9PCP3;B7Z400;Q14244-2;Q14244	.;.;.;.;.;.;MAP7_HUMAN	W	106;128;91;128	ENSP00000346581:R106W;ENSP00000414712:R128W;ENSP00000445737:R91W;ENSP00000400790:R128W	ENSP00000346581:R106W	R	-	1	2	MAP7	136752277	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	3.356000	0.52269	0.200000	0.20447	0.557000	0.71058	CGG		0.527	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980		43	77	0	0	0	1	0	43	77				
PCDHGB3	56102	broad.mit.edu	37	5	140751623	140751623	+	Silent	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr5:140751623C>T	ENST00000576222.1	+	1	1793	c.1662C>T	c.(1660-1662)gaC>gaT	p.D554D	PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	554	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGGACGACCGCAACGACA	0.667																																						ENST00000576222.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(1660-1662)gaC>gaT									36.0	46.0	43.0					5																	140751623		2192	4292	6484	SO:0001819	synonymous_variant	0							g.chr5:140751623C>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1662C>T	5.37:g.140751623C>T						PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	p.D554D	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1793	+								A7E229|Q9Y5C7	Silent	SNP	ENST00000576222.1	37	c.1662C>T	CCDS58980.1																																																																																				0.667	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		21	55	0	0	0	1	0	21	55				
CLIP2	7461	broad.mit.edu	37	7	73731941	73731941	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr7:73731941G>A	ENST00000395060.1	+	1	65	c.65G>A	c.(64-66)cGg>cAg	p.R22Q	CLIP2_ENST00000361545.5_Missense_Mutation_p.R22Q|CLIP2_ENST00000223398.6_Missense_Mutation_p.R22Q			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	22						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CCCATGGGCCGGACATCTACT	0.672																																						ENST00000223398.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(64-66)cGg>cAg		CAP-GLY domain containing linker protein 2							63.0	68.0	66.0					7																	73731941		2203	4300	6503	SO:0001583	missense	7461					microtubule associated complex		g.chr7:73731941G>A	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.65G>A	7.37:g.73731941G>A	ENSP00000378500:p.Arg22Gln					CLIP2_ENST00000395060.1_Missense_Mutation_p.R22Q|CLIP2_ENST00000361545.5_Missense_Mutation_p.R22Q	p.R22Q	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN			2	392	+			22					O14527|O43611	Missense_Mutation	SNP	ENST00000395060.1	37	c.65G>A	CCDS5569.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831725	0.71258	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	T;T;T	0.59502	0.26;0.3;0.26	4.52	4.52	0.55395	.	0.000000	0.64402	D	0.000002	T	0.62925	0.2468	L	0.27053	0.805	0.38913	D	0.957579	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.992	T	0.66630	-0.5875	10	0.52906	T	0.07	-35.507	12.629	0.56646	0.0:0.0:1.0:0.0	.	22;22	Q9UDT6-2;Q9UDT6	.;CLIP2_HUMAN	Q	22	ENSP00000223398:R22Q;ENSP00000355151:R22Q;ENSP00000378500:R22Q	ENSP00000223398:R22Q	R	+	2	0	CLIP2	73369877	1.000000	0.71417	0.991000	0.47740	0.387000	0.30353	4.642000	0.61383	2.340000	0.79590	0.561000	0.74099	CGG		0.672	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		75	100	0	0	0	1	0	75	100				
LRRN4	164312	broad.mit.edu	37	20	6022239	6022239	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr20:6022239G>A	ENST00000378858.4	-	5	1876	c.1652C>T	c.(1651-1653)cCc>cTc	p.P551L		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	551					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						GTGCTTGCAGGGATGGTAATC	0.662																																						ENST00000378858.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						c.(1651-1653)cCc>cTc		leucine rich repeat neuronal 4							103.0	112.0	109.0					20																	6022239		2203	4300	6503	SO:0001583	missense	164312					integral to membrane		g.chr20:6022239G>A	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.1652C>T	20.37:g.6022239G>A	ENSP00000368135:p.Pro551Leu						p.P551L	NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN			5	1876	-			551					A8K258|Q5JWV6|Q9H419	Missense_Mutation	SNP	ENST00000378858.4	37	c.1652C>T	CCDS13097.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900677	0.72754	.	.	ENSG00000125872	ENST00000378858	T	0.60171	0.21	5.01	5.01	0.66863	.	0.140050	0.48286	D	0.000192	T	0.66076	0.2753	M	0.79475	2.455	0.80722	D	1	P	0.49253	0.921	P	0.45406	0.479	T	0.74203	-0.3741	10	0.87932	D	0	-27.8962	18.3264	0.90255	0.0:0.0:1.0:0.0	.	551	Q8WUT4	LRRN4_HUMAN	L	551	ENSP00000368135:P551L	ENSP00000368135:P551L	P	-	2	0	LRRN4	5970239	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	4.767000	0.62286	2.319000	0.78375	0.561000	0.74099	CCC		0.662	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		46	136	0	0	0	1	0	46	136				
EPB41L3	23136	broad.mit.edu	37	18	5428407	5428407	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr18:5428407G>A	ENST00000341928.2	-	9	1310	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R324C|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R324C|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R324C|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R324C	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	324	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AGCCGGTCGCGATATATCAAC	0.413																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(970-972)Cgc>Tgc		erythrocyte membrane protein band 4.1-like 3							138.0	143.0	142.0					18																	5428407		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5428407G>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.970C>T	18.37:g.5428407G>A	ENSP00000343158:p.Arg324Cys					EPB41L3_ENST00000540638.2_Missense_Mutation_p.R324C|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R324C|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R324C|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R324C	p.R324C	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			9	1310	-			324			FERM.		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.970C>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629742	0.87660	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	5.31	5.31	0.75309	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.91479	0.7310	M	0.78344	2.41	0.80722	D	1	D;D;D;D;P	0.89917	1.0;0.968;1.0;1.0;0.949	D;B;D;D;P	0.85130	0.992;0.204;0.997;0.935;0.772	D	0.92368	0.5903	10	0.87932	D	0	.	18.973	0.92722	0.0:0.0:1.0:0.0	.	324;324;215;324;324	F5GX05;Q9Y2J2-3;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	C	324;215;324;215;324;324	ENSP00000343158:R324C;ENSP00000441174:R324C;ENSP00000341138:R324C;ENSP00000382981:R324C	ENSP00000343158:R324C	R	-	1	0	EPB41L3	5418407	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.368000	0.59505	2.455000	0.83008	0.655000	0.94253	CGC		0.413	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		38	89	0	0	0	1	0	38	89				
DSCAML1	57453	broad.mit.edu	37	11	117391968	117391968	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr11:117391968G>A	ENST00000321322.6	-	6	1271	c.1270C>T	c.(1270-1272)Cgc>Tgc	p.R424C	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R154C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	364	Ig-like C2-type 5.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTGAGCCCGCGGATGGAGATG	0.652																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(1270-1272)Cgc>Tgc		Down syndrome cell adhesion molecule like 1							120.0	101.0	107.0					11																	117391968		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117391968G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1270C>T	11.37:g.117391968G>A	ENSP00000315465:p.Arg424Cys					DSCAML1_ENST00000527706.1_Missense_Mutation_p.R154C	p.R424C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	6	1271	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	364			Ig-like C2-type 5.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.1270C>T	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	31	5.080319	0.94050	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.68479	-0.33;-0.33	4.85	4.85	0.62838	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80138	0.4568	M	0.84326	2.69	0.80722	D	1	D;D	0.57257	0.979;0.971	P;P	0.56788	0.707;0.806	T	0.80850	-0.1198	9	0.38643	T	0.18	.	18.1535	0.89684	0.0:0.0:1.0:0.0	.	154;364	G3V1B5;Q8TD84	.;DSCL1_HUMAN	C	154;424;131	ENSP00000434335:R154C;ENSP00000315465:R424C	ENSP00000315465:R424C	R	-	1	0	DSCAML1	116897178	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.067000	0.71193	2.519000	0.84933	0.609000	0.83330	CGC		0.652	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		58	108	0	0	0	1	0	58	108				
RIC8B	55188	broad.mit.edu	37	12	107236410	107236410	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr12:107236410G>C	ENST00000392839.2	+	5	986	c.880G>C	c.(880-882)Gat>Cat	p.D294H	RIC8B_ENST00000355478.2_Missense_Mutation_p.D254H|RIC8B_ENST00000392837.4_Missense_Mutation_p.D294H|RIC8B_ENST00000549643.1_Intron	NM_018157.2	NP_060627.2	Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	294					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	G-protein alpha-subunit binding (GO:0001965)|guanyl-nucleotide exchange factor activity (GO:0005085)			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						CTCTTGTTTGGATGTTCTCAT	0.348																																						ENST00000392837.4																			0				kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						c.(880-882)Gat>Cat		RIC8 guanine nucleotide exchange factor B							112.0	111.0	111.0					12																	107236410		2203	4300	6503	SO:0001583	missense	55188				regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity	g.chr12:107236410G>C	AK128102	CCDS9109.2	12q23.3	2013-08-05	2013-08-05		ENSG00000111785	ENSG00000111785			25555	protein-coding gene	gene with protein product		609147	"""resistance to inhibitors of cholinesterase 8 homolog B (C. elegans)"""				Standard	XM_005268998		Approved	FLJ10620, hSyn, RIC8	uc001tlx.3	Q9NVN3	OTTHUMG00000144188	ENST00000392839.2:c.880G>C	12.37:g.107236410G>C	ENSP00000376583:p.Asp294His					RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000355478.2_Missense_Mutation_p.D254H|RIC8B_ENST00000392839.2_Missense_Mutation_p.D294H	p.D294H			Q9NVN3	RIC8B_HUMAN			5	1031	+			294					A2RTZ0|Q4G103|Q6ZRN4|Q86WD3	Missense_Mutation	SNP	ENST00000392839.2	37	c.880G>C	CCDS9109.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.241421|4.241421	0.79912|0.79912	.|.	.|.	ENSG00000111785|ENSG00000111785	ENST00000392837;ENST00000392839;ENST00000355478|ENST00000548914	.|.	.|.	.|.	5.41|5.41	5.41|5.41	0.78517|0.78517	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74951|0.74951	0.3784|0.3784	M|M	0.66297|0.66297	2.02|2.02	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;0.999;1.0|.	T|T	0.73183|0.73183	-0.4063|-0.4063	9|5	0.62326|.	D|.	0.03|.	-8.9734|-8.9734	19.1936|19.1936	0.93677|0.93677	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	254;294;294|.	Q9NVN3-3;Q9NVN3;B7WPL0|.	.;RIC8B_HUMAN;.|.	H|C	294;294;254|118	.|.	ENSP00000347662:D254H|.	D|W	+|+	1|3	0|0	RIC8B|RIC8B	105760540|105760540	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.476000|9.476000	0.97823|0.97823	2.540000|2.540000	0.85666|0.85666	0.655000|0.655000	0.94253|0.94253	GAT|TGG		0.348	RIC8B-006	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000291398.2	NM_018157		10	35	0	0	0	1	0	10	35				
LEPR	3953	broad.mit.edu	37	1	66081728	66081728	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr1:66081728G>A	ENST00000349533.6	+	15	2218	c.2033G>A	c.(2032-2034)aGa>aAa	p.R678K	LEPR_ENST00000371060.3_Missense_Mutation_p.R678K|LEPR_ENST00000371059.3_Missense_Mutation_p.R678K|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000344610.8_Missense_Mutation_p.R678K|LEPR_ENST00000371058.1_Missense_Mutation_p.R678K	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AGTGTTCAGAGATATGTGATA	0.393																																						ENST00000349533.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36						c.(2032-2034)aGa>aAa		leptin receptor							117.0	107.0	111.0					1																	66081728		2203	4300	6503	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66081728G>A	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2033G>A	1.37:g.66081728G>A	ENSP00000330393:p.Arg678Lys					LEPR_ENST00000371060.3_Missense_Mutation_p.R678K|LEPR_ENST00000344610.8_Missense_Mutation_p.R678K|LEPR_ENST00000371059.3_Missense_Mutation_p.R678K|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.R678K	p.R678K	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	15	2218	+			678			Fibronectin type-III 3.		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.2033G>A	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	5.349	0.249602	0.10130	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	5.37	3.44	0.39384	Fibronectin, type III (2);	0.287022	0.40302	N	0.001137	T	0.12475	0.0303	L	0.40543	1.245	0.53688	D	0.99997	B;B;B	0.13594	0.006;0.005;0.008	B;B;B	0.15870	0.014;0.014;0.009	T	0.15292	-1.0442	10	0.06236	T	0.91	-3.89	11.0049	0.47629	0.1564:0.0:0.8436:0.0	.	678;678;678	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	K	678	ENSP00000340884:R678K;ENSP00000330393:R678K;ENSP00000360099:R678K;ENSP00000360098:R678K;ENSP00000360097:R678K	ENSP00000340884:R678K	R	+	2	0	LEPR	65854316	0.997000	0.39634	0.456000	0.27044	0.262000	0.26303	3.170000	0.50816	0.595000	0.29777	0.655000	0.94253	AGA		0.393	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		23	44	0	0	0	1	0	23	44				
AP5M1	55745	broad.mit.edu	37	14	57736076	57736076	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr14:57736076C>A	ENST00000261558.3	+	1	450	c.44C>A	c.(43-45)aCt>aAt	p.T15N	EXOC5_ENST00000340918.7_5'Flank|EXOC5_ENST00000413566.2_5'Flank|AP5M1_ENST00000431972.2_Missense_Mutation_p.T15N	NM_018229.3	NP_060699.3	Q9H0R1	AP5M1_HUMAN	adaptor-related protein complex 5, mu 1 subunit	15					endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytosol (GO:0005829)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)											GAACCGGGAACTCCACTTTGT	0.488																																						ENST00000261558.3																			0											c.(43-45)aCt>aAt		adaptor-related protein complex 5, mu 1 subunit							126.0	118.0	121.0					14																	57736076		2203	4300	6503	SO:0001583	missense	55745				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex		g.chr14:57736076C>A	AF094583	CCDS9729.1	14q22.2	2012-03-20	2012-03-20	2012-03-20	ENSG00000053770	ENSG00000053770			20192	protein-coding gene	gene with protein product	"""Mu-2 related death-inducing gene"""	614368	"""chromosome 14 open reading frame 108"", ""MU-2/AP1M2 domain containing, death-inducing"""	C14orf108, MUDENG		18395520	Standard	NM_018229		Approved	FLJ10813, MuD, mu5	uc001xcv.3	Q9H0R1	OTTHUMG00000140318	ENST00000261558.3:c.44C>A	14.37:g.57736076C>A	ENSP00000261558:p.Thr15Asn					AP5M1_ENST00000431972.2_Missense_Mutation_p.T15N	p.T15N	NM_018229.3	NP_060699.3	Q9H0R1	MUDEN_HUMAN			1	450	+			15					O95354|Q6ZMD7|Q96DX3|Q9NVC5	Missense_Mutation	SNP	ENST00000261558.3	37	c.44C>A	CCDS9729.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.649833	0.29336	.	.	ENSG00000053770	ENST00000261558;ENST00000431972	T;T	0.31510	1.57;1.49	5.93	5.04	0.67666	.	0.316431	0.39834	N	0.001252	T	0.30230	0.0758	L	0.51422	1.61	0.24512	N	0.994202	B;B	0.11235	0.001;0.004	B;B	0.09377	0.001;0.004	T	0.12708	-1.0537	10	0.32370	T	0.25	.	15.3689	0.74548	0.0:0.8614:0.1386:0.0	.	15;15	Q9H0R1;Q9H0R1-2	MUDEN_HUMAN;.	N	15	ENSP00000261558:T15N;ENSP00000390531:T15N	ENSP00000261558:T15N	T	+	2	0	MUDENG	56805829	0.939000	0.31865	0.977000	0.42913	0.274000	0.26718	1.860000	0.39428	1.494000	0.48533	0.655000	0.94253	ACT		0.488	AP5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276922.1	NM_018229		10	73	1	0	2.80697e-09	1	2.88495e-09	10	73				
MEN1	4221	broad.mit.edu	37	11	64572230	64572230	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr11:64572230G>A	ENST00000337652.1	-	10	1927	c.1424C>T	c.(1423-1425)cCg>cTg	p.P475L	MEN1_ENST00000443283.1_Missense_Mutation_p.P475L|MAP4K2_ENST00000377350.3_5'Flank|MEN1_ENST00000377313.1_Missense_Mutation_p.P475L|MEN1_ENST00000394376.1_Missense_Mutation_p.P475L|MAP4K2_ENST00000294066.2_5'Flank|MAP4K2_ENST00000468062.1_5'Flank|MEN1_ENST00000377316.2_Missense_Mutation_p.P415L|MEN1_ENST00000315422.4_Missense_Mutation_p.P470L|MEN1_ENST00000312049.6_Missense_Mutation_p.P470L|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377321.1_Missense_Mutation_p.P435L|MEN1_ENST00000377326.3_Missense_Mutation_p.P470L|MEN1_ENST00000394374.2_Missense_Mutation_p.P475L	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	475					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CTCGCCCCACGGCTCCTCGGC	0.731			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	ENST00000337652.1			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	"""D, Mis, N, F, S"""	multiple endocrine neoplasia type 1 gene			E		"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""	"""parathyroid tumors, Pancreatic neuroendocrine tumors"""		0				NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						c.(1423-1425)cCg>cTg		multiple endocrine neoplasia I							19.0	22.0	21.0					11																	64572230		1675	3618	5293	SO:0001583	missense	0	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64572230G>A	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.1424C>T	11.37:g.64572230G>A	ENSP00000337088:p.Pro475Leu					MEN1_ENST00000443283.1_Missense_Mutation_p.P475L|MEN1_ENST00000377321.1_Missense_Mutation_p.P435L|MEN1_ENST00000377313.1_Missense_Mutation_p.P475L|MEN1_ENST00000377316.2_Missense_Mutation_p.P415L|MEN1_ENST00000394374.2_Missense_Mutation_p.P475L|MEN1_ENST00000312049.6_Missense_Mutation_p.P470L|MEN1_ENST00000394376.1_Missense_Mutation_p.P475L|MEN1_ENST00000315422.4_Missense_Mutation_p.P470L|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377326.3_Missense_Mutation_p.P470L	p.P475L	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN			10	1927	-			475					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000337652.1	37	c.1424C>T	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.635024	0.29068	.	.	ENSG00000133895	ENST00000377316;ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313	D;D;D;D;D;D;D;D;D;D	0.99292	-5.7;-5.7;-5.7;-5.7;-5.7;-5.7;-5.7;-5.7;-5.7;-5.7	4.54	2.53	0.30540	.	0.590600	0.17440	N	0.174147	D	0.95828	0.8642	N	0.14661	0.345	0.36411	D	0.863747	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.0;0.0;0.001	D	0.94235	0.7480	10	0.28530	T	0.3	-13.5933	7.26	0.26197	0.2377:0.0:0.7623:0.0	.	470;435;475	O00255-2;O00255-3;O00255	.;.;MEN1_HUMAN	L	415;435;470;470;470;475;475;475;475;475	ENSP00000366533:P415L;ENSP00000366538:P435L;ENSP00000366543:P470L;ENSP00000308975:P470L;ENSP00000323747:P470L;ENSP00000337088:P475L;ENSP00000377901:P475L;ENSP00000377899:P475L;ENSP00000396940:P475L;ENSP00000366530:P475L	ENSP00000308975:P470L	P	-	2	0	MEN1	64328806	0.960000	0.32886	0.783000	0.31826	0.542000	0.35054	1.579000	0.36536	0.985000	0.38656	0.456000	0.33151	CCG		0.731	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			20	56	0	0	0	1	0	20	56				
TMEM215	401498	broad.mit.edu	37	9	32784834	32784834	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr9:32784834A>G	ENST00000342743.5	+	2	1018	c.653A>G	c.(652-654)tAc>tGc	p.Y218C		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	218						integral component of membrane (GO:0016021)				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						TATGACAGATACTGTTGTTAT	0.478																																						ENST00000342743.5																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						c.(652-654)tAc>tGc		transmembrane protein 215							75.0	66.0	69.0					9																	32784834		2191	4276	6467	SO:0001583	missense	401498					integral to membrane		g.chr9:32784834A>G		CCDS6530.1	9p21.1	2008-08-08			ENSG00000188133	ENSG00000188133			33816	protein-coding gene	gene with protein product							Standard	NM_212558		Approved		uc003zri.4	Q68D42	OTTHUMG00000129521	ENST00000342743.5:c.653A>G	9.37:g.32784834A>G	ENSP00000345468:p.Tyr218Cys						p.Y218C	NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN			2	1018	+			218					Q6ZUU2	Missense_Mutation	SNP	ENST00000342743.5	37	c.653A>G	CCDS6530.1	.	.	.	.	.	.	.	.	.	.	A	13.20	2.167224	0.38315	.	.	ENSG00000188133	ENST00000342743	.	.	.	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000011	T	0.64746	0.2626	L	0.27053	0.805	0.52501	D	0.999955	D	0.89917	1.0	D	0.83275	0.996	T	0.68926	-0.5280	9	0.87932	D	0	-16.6866	13.6778	0.62465	1.0:0.0:0.0:0.0	.	218	Q68D42	TM215_HUMAN	C	218	.	ENSP00000345468:Y218C	Y	+	2	0	TMEM215	32774834	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.701000	0.74624	2.119000	0.64992	0.533000	0.62120	TAC		0.478	TMEM215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251701.1	NM_212558		15	55	0	0	0	1	0	15	55				
HLA-V	352962	broad.mit.edu	37	6	29760284	29760284	+	RNA	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr6:29760284C>T	ENST00000457107.1	+	0	154									major histocompatibility complex, class I, V (pseudogene)																		GCTTCCTCTCCGTGGGCGACG	0.706																																						ENST00000457107.1																			0																																																			0							g.chr6:29760284C>T	M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29760284C>T														0	154	+									RNA	SNP	ENST00000457107.1	37																																																																																						0.706	HLA-V-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000105231.1	NG_002729		4	10	0	0	0	1	0	4	10				
PCDHA3	56145	broad.mit.edu	37	5	140183011	140183011	+	Silent	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr5:140183011C>T	ENST00000522353.2	+	1	2229	c.2229C>T	c.(2227-2229)agC>agT	p.S743S	PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.S743S	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	743	6 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S743S(4)|p.S743R(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGCTCCAGCGCGGTGGGGA	0.637																																						ENST00000522353.2																			6	Substitution - coding silent(4)|Substitution - Missense(2)	p.S743S(4)|p.S743R(2)	prostate(2)|lung(2)|endometrium(2)	NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(2227-2229)agC>agT									78.0	85.0	83.0					5																	140183011		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140183011C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.2229C>T	5.37:g.140183011C>T						PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.S743S|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.S743S	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2229	+								O75286	Silent	SNP	ENST00000522353.2	37	c.2229C>T	CCDS54915.1																																																																																				0.637	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		52	106	0	0	0	1	0	52	106				
GGTLC1	92086	broad.mit.edu	37	20	23967157	23967157	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr20:23967157A>G	ENST00000335694.4	-	2	296	c.92T>C	c.(91-93)aTg>aCg	p.M31T	GGTLC1_ENST00000278765.4_Missense_Mutation_p.M31T|GGTLC1_ENST00000286890.4_Missense_Mutation_p.M31T	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	31					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)	gamma-glutamyltransferase activity (GO:0003840)	p.M31T(6)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GTCATCCGGCATGTAGAACTC	0.622																																						ENST00000335694.4																			6	Substitution - Missense(6)	p.M31T(6)	lung(4)|NS(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(91-93)aTg>aCg		gamma-glutamyltransferase light chain 1							67.0	61.0	63.0					20																	23967157		2203	4300	6503	SO:0001583	missense	92086						gamma-glutamyltransferase activity	g.chr20:23967157A>G	AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435		"""Gamma-glutamyltransferases"""	16437	protein-coding gene	gene with protein product		612338	"""gamma-glutamyltransferase-like activity 4"", ""gamma-glutamyltransferase-like activity 3"""	GGTLA4, GGTLA3		10843999, 18357469	Standard	NM_178311		Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.92T>C	20.37:g.23967157A>G	ENSP00000337587:p.Met31Thr					GGTLC1_ENST00000286890.4_Missense_Mutation_p.M31T|GGTLC1_ENST00000278765.4_Missense_Mutation_p.M31T	p.M31T	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN			2	296	-			31					D3DW43|Q08246	Missense_Mutation	SNP	ENST00000335694.4	37	c.92T>C	CCDS13163.1	.	.	.	.	.	.	.	.	.	.	a	0	-2.745202	0.00087	.	.	ENSG00000149435	ENST00000286890;ENST00000278765;ENST00000335694	T;T;T	0.05786	3.39;3.39;3.39	0.844	-1.69	0.08186	.	0.459428	0.22918	N	0.054055	T	0.01092	0.0036	N	0.00332	-1.63	0.20403	N	0.999909	B	0.02656	0.0	B	0.01281	0.0	T	0.28996	-1.0026	10	0.02654	T	1	-29.1837	4.9338	0.13930	0.5039:0.0:0.4961:0.0	.	31	Q9BX51	GGTL1_HUMAN	T	31	ENSP00000286890:M31T;ENSP00000278765:M31T;ENSP00000337587:M31T	ENSP00000278765:M31T	M	-	2	0	GGTLC1	23915157	0.993000	0.37304	0.024000	0.17045	0.024000	0.10985	1.453000	0.35167	-1.885000	0.01118	-1.888000	0.00539	ATG		0.622	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078366.2	NM_178311.2		5	102	0	0	0	1	0	5	102				
NAV3	89795	broad.mit.edu	37	12	78400511	78400511	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr12:78400511G>A	ENST00000397909.2	+	8	1366	c.1193G>A	c.(1192-1194)cGc>cAc	p.R398H	NAV3_ENST00000266692.7_Missense_Mutation_p.R398H|NAV3_ENST00000228327.6_Missense_Mutation_p.R398H|NAV3_ENST00000536525.2_Missense_Mutation_p.R398H			Q8IVL0	NAV3_HUMAN	neuron navigator 3	398						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						ACTGCTTTACGCCCCCCGCAG	0.498										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.(1192-1194)cGc>cAc		neuron navigator 3							88.0	90.0	90.0					12																	78400511		1976	4151	6127	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400511G>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1193G>A	12.37:g.78400511G>A	ENSP00000381007:p.Arg398His	HNSCC(70;0.22)				NAV3_ENST00000228327.6_Missense_Mutation_p.R398H|NAV3_ENST00000536525.2_Missense_Mutation_p.R398H|NAV3_ENST00000266692.7_Missense_Mutation_p.R398H	p.R398H			Q8IVL0	NAV3_HUMAN			8	1366	+			398					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.1193G>A		.	.	.	.	.	.	.	.	.	.	G	16.81	3.224806	0.58668	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.63096	-0.02;1.52;1.52;1.52;1.35	5.74	4.85	0.62838	.	0.000000	0.37669	U	0.001999	T	0.64702	0.2622	L	0.38175	1.15	0.80722	D	1	D;P	0.71674	0.998;0.951	P;P	0.55161	0.77;0.484	T	0.67681	-0.5608	10	0.72032	D	0.01	-13.5137	14.1814	0.65577	0.0712:0.0:0.9288:0.0	.	398;398	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	H	398	ENSP00000446628:R398H;ENSP00000446132:R398H;ENSP00000381007:R398H;ENSP00000228327:R398H;ENSP00000266692:R398H	ENSP00000228327:R398H	R	+	2	0	NAV3	76924642	1.000000	0.71417	0.956000	0.39512	0.243000	0.25628	6.491000	0.73649	2.715000	0.92844	0.655000	0.94253	CGC		0.498	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		38	59	0	0	0	1	0	38	59				
F10	2159	broad.mit.edu	37	13	113803456	113803456	+	Silent	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr13:113803456C>T	ENST00000375559.3	+	8	1130	c.1092C>T	c.(1090-1092)ttC>ttT	p.F364F	F10_ENST00000375551.3_3'UTR|F10_ENST00000409306.1_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	364	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	TGAGCGGCTTCGGGCGCACCC	0.647																																						ENST00000375559.3																			0				endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18						c.(1090-1092)ttC>ttT		coagulation factor X	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)						44.0	41.0	42.0					13																	113803456		2203	4299	6502	SO:0001819	synonymous_variant	2159				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	g.chr13:113803456C>T		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.1092C>T	13.37:g.113803456C>T						F10_ENST00000375551.3_3'UTR|F10_ENST00000409306.1_3'UTR	p.F364F	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		8	1130	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	364			Peptidase S1.		Q14340	Silent	SNP	ENST00000375559.3	37	c.1092C>T	CCDS9530.1																																																																																				0.647	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3			30	21	0	0	0	1	0	30	21				
OPHN1	4983	broad.mit.edu	37	X	67433758	67433758	+	Nonsense_Mutation	SNP	A	A	C			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chrX:67433758A>C	ENST00000355520.5	-	7	1184	c.543T>G	c.(541-543)taT>taG	p.Y181*	OPHN1_ENST00000540071.1_Nonsense_Mutation_p.Y181*	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	181					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TTTGATAAACATAATCAAGAG	0.363																																						ENST00000355520.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						c.(541-543)taT>taG		oligophrenin 1							78.0	65.0	70.0					X																	67433758		2203	4300	6503	SO:0001587	stop_gained	4983				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chrX:67433758A>C	AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"""Rho GTPase activating proteins"""	8148	protein-coding gene	gene with protein product		300127	"""mental retardation, X-linked 60"""	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.543T>G	X.37:g.67433758A>C	ENSP00000347710:p.Tyr181*					OPHN1_ENST00000540071.1_Nonsense_Mutation_p.Y181*	p.Y181*	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN			7	1184	-			181					B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Nonsense_Mutation	SNP	ENST00000355520.5	37	c.543T>G	CCDS14388.1	.	.	.	.	.	.	.	.	.	.	A	42	9.556241	0.99204	.	.	ENSG00000079482	ENST00000355520;ENST00000540071	.	.	.	4.39	3.22	0.36961	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.2622	0.26209	0.8909:0.0:0.1091:0.0	.	.	.	.	X	181	.	ENSP00000347710:Y181X	Y	-	3	2	OPHN1	67350483	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.051000	0.49885	0.652000	0.30806	0.339000	0.21740	TAT		0.363	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547		3	5	0	0	0	1	0	3	5				
LRRC4C	57689	broad.mit.edu	37	11	40137424	40137424	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr11:40137424G>A	ENST00000278198.2	-	2	2382	c.419C>T	c.(418-420)cCg>cTg	p.P140L	LRRC4C_ENST00000530763.1_Missense_Mutation_p.P140L|LRRC4C_ENST00000528697.1_Missense_Mutation_p.P140L|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P140L			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	140					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AGCTCCATTCGGGATGGTAGT	0.423																																						ENST00000278198.2																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(418-420)cCg>cTg		leucine rich repeat containing 4C							68.0	70.0	69.0					11																	40137424		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137424G>A	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.419C>T	11.37:g.40137424G>A	ENSP00000278198:p.Pro140Leu					LRRC4C_ENST00000530763.1_Missense_Mutation_p.P140L|LRRC4C_ENST00000528697.1_Missense_Mutation_p.P140L|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P140L	p.P140L			Q9HCJ2	LRC4C_HUMAN			2	2382	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	140					A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.419C>T	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663051	0.67700	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.09073	3.02;3.02;3.02;3.02	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.33933	0.0880	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01998	-1.1232	10	0.62326	D	0.03	.	19.0894	0.93221	0.0:0.0:1.0:0.0	.	140	Q9HCJ2	LRC4C_HUMAN	L	140	ENSP00000278198:P140L;ENSP00000436976:P140L;ENSP00000437132:P140L;ENSP00000434761:P140L	ENSP00000278198:P140L	P	-	2	0	LRRC4C	40094000	1.000000	0.71417	0.967000	0.41034	0.992000	0.81027	9.813000	0.99286	2.754000	0.94517	0.650000	0.86243	CCG		0.423	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		12	29	0	0	0	1	0	12	29				
SCRIB	23513	broad.mit.edu	37	8	144892705	144892705	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr8:144892705G>A	ENST00000320476.3	-	13	1480	c.1474C>T	c.(1474-1476)Cgg>Tgg	p.R492W	MIR937_ENST00000401271.1_RNA|SCRIB_ENST00000377533.3_Missense_Mutation_p.R411W|SCRIB_ENST00000356994.2_Missense_Mutation_p.R492W	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	492	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCCTCGCTCCGCCGCCCCTCG	0.682																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(1474-1476)Cgg>Tgg		scribbled planar cell polarity protein							70.0	74.0	72.0					8																	144892705		2203	4300	6503	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144892705G>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1474C>T	8.37:g.144892705G>A	ENSP00000322938:p.Arg492Trp					SCRIB_ENST00000320476.3_Missense_Mutation_p.R492W|SCRIB_ENST00000377533.3_Missense_Mutation_p.R411W	p.R492W	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		13	1480	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		492			Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.1474C>T	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187463	0.57909	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.78126	-1.15;-1.15;-1.15	4.35	3.48	0.39840	.	.	.	.	.	D	0.83547	0.5278	M	0.62266	1.93	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.82837	-0.0260	9	0.87932	D	0	.	7.096	0.25309	0.0896:0.0:0.7421:0.1683	.	492;492	Q14160;Q14160-3	SCRIB_HUMAN;.	W	492;492;411	ENSP00000349486:R492W;ENSP00000322938:R492W;ENSP00000366756:R411W	ENSP00000322938:R492W	R	-	1	2	SCRIB	144964693	0.995000	0.38212	0.247000	0.24249	0.024000	0.10985	3.022000	0.49659	0.965000	0.38133	-0.244000	0.11960	CGG		0.682	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		19	148	0	0	0	1	0	19	148				
BMP6	654	broad.mit.edu	37	6	7845380	7845380	+	Silent	SNP	C	C	T	rs375867934		TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr6:7845380C>T	ENST00000283147.6	+	2	831	c.672C>T	c.(670-672)taC>taT	p.Y224Y		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	224					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					TAGTGGAGTACGACAAGGAGT	0.478																																						ENST00000283147.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23						c.(670-672)taC>taT		bone morphogenetic protein 6		C		0,4406		0,0,2203	117.0	114.0	115.0		672	4.3	1.0	6		115	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BMP6	NM_001718.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		224/514	7845380	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	654				BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	g.chr6:7845380C>T	AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1073	protein-coding gene	gene with protein product		112266	"""vegetal related growth factor (TGFB-related)"""	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.672C>T	6.37:g.7845380C>T							p.Y224Y	NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN			2	831	+	Ovarian(93;0.0721)		224					Q5TCP3	Silent	SNP	ENST00000283147.6	37	c.672C>T	CCDS4503.1																																																																																				0.478	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718		37	52	0	0	0	1	0	37	52				
ZNF775	285971	broad.mit.edu	37	7	150094403	150094403	+	Silent	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr7:150094403G>A	ENST00000329630.5	+	3	941	c.834G>A	c.(832-834)ccG>ccA	p.P278P		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	278					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		cgggcgagccgcgccAGTTCA	0.741																																						ENST00000329630.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11						c.(832-834)ccG>ccA		zinc finger protein 775							10.0	12.0	11.0					7																	150094403		2050	4176	6226	SO:0001819	synonymous_variant	285971				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:150094403G>A	BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"""Zinc fingers, C2H2-type"""	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.834G>A	7.37:g.150094403G>A							p.P278P	NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	941	+	Ovarian(565;0.183)|Melanoma(164;0.226)		278					Q8IY24	Silent	SNP	ENST00000329630.5	37	c.834G>A	CCDS43678.1																																																																																				0.741	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350679.1	NM_173680		14	25	0	0	0	1	0	14	25				
ASXL3	80816	broad.mit.edu	37	18	31324283	31324283	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr18:31324283G>A	ENST00000269197.5	+	12	4471	c.4471G>A	c.(4471-4473)Gtt>Att	p.V1491I		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1491					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GACTGTCTCCGTTGAAAGCTC	0.557											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(4471-4473)Gtt>Att		additional sex combs like 3 (Drosophila)							44.0	47.0	46.0					18																	31324283		2202	4300	6502	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31324283G>A	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.4471G>A	18.37:g.31324283G>A	ENSP00000269197:p.Val1491Ile		OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	823		p.V1491I	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			12	4471	+			1491					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.4471G>A	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	0.317	-0.964371	0.02249	.	.	ENSG00000141431	ENST00000269197	T	0.13196	2.61	6.16	-4.93	0.03066	.	.	.	.	.	T	0.02767	0.0083	N	0.01576	-0.805	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41179	-0.9523	9	0.02654	T	1	.	3.8877	0.09105	0.4057:0.1138:0.378:0.1024	.	1491	Q9C0F0	ASXL3_HUMAN	I	1491	ENSP00000269197:V1491I	ENSP00000269197:V1491I	V	+	1	0	ASXL3	29578281	0.343000	0.24818	0.166000	0.22797	0.814000	0.46013	0.109000	0.15417	-0.603000	0.05767	-0.312000	0.09012	GTT		0.557	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			24	53	0	0	0	1	0	24	53				
FTL	2512	broad.mit.edu	37	19	49469955	49469955	+	Missense_Mutation	SNP	A	A	C	rs368634782		TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr19:49469955A>C	ENST00000331825.6	+	4	698	c.491A>C	c.(490-492)gAg>gCg	p.E164A	CTD-2639E6.9_ENST00000599784.1_lincRNA	NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	164					cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|membrane (GO:0016020)	ferric iron binding (GO:0008199)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)			cervix(1)|kidney(3)|lung(5)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	GGGCTGGGCGAGTATCTCTTC	0.552																																						ENST00000331825.6																			0				cervix(1)|kidney(3)|lung(5)	9						c.(490-492)gAg>gCg		ferritin, light polypeptide	Iron Dextran(DB00893)						70.0	75.0	73.0					19																	49469955		2203	4300	6503	SO:0001583	missense	2512				cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|identical protein binding|oxidoreductase activity	g.chr19:49469955A>C	AY207005	CCDS33070.1	19q13.33	2014-05-19			ENSG00000087086	ENSG00000087086			3999	protein-coding gene	gene with protein product	"""ferritin light polypeptide-like 3"", ""L apoferritin"", ""ferritin L subunit"", ""ferritin light chain"", ""ferritin L-chain"", ""neurodegeneration with brain iron accumulation 3"""	134790				3000916, 9526618	Standard	NM_000146		Approved	MGC71996, NBIA3	uc002plo.3	P02792		ENST00000331825.6:c.491A>C	19.37:g.49469955A>C	ENSP00000366525:p.Glu164Ala						p.E164A	NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	4	698	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	164					B2R4B9|Q6IBT7|Q7Z2W1|Q86WI9|Q8WU07|Q96AU9|Q96CU0|Q9BTZ8	Missense_Mutation	SNP	ENST00000331825.6	37	c.491A>C	CCDS33070.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.734137	0.89482	.	.	ENSG00000087086	ENST00000331825;ENST00000397259	T	0.70631	-0.5	4.46	4.46	0.54185	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);	0.000000	0.85682	D	0.000000	T	0.82139	0.4972	M	0.92412	3.305	0.41406	D	0.987702	P	0.50710	0.938	P	0.51415	0.669	D	0.86819	0.2003	10	0.87932	D	0	.	12.021	0.53344	1.0:0.0:0.0:0.0	.	164	P02792	FRIL_HUMAN	A	164	ENSP00000366525:E164A	ENSP00000366525:E164A	E	+	2	0	FTL	54161767	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.431000	0.90285	2.011000	0.59026	0.460000	0.39030	GAG		0.552	FTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466233.1	NM_000146		9	83	0	0	0	1	0	9	83				
LOC150776	150776	broad.mit.edu	37	2	132266164	132266164	+	RNA	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr2:132266164C>T	ENST00000438378.2	+	0	1217					NR_026922.1																						TCAAAAAATGCAGTCCCCTCA	0.453																																						ENST00000438378.2																			0																																																			0							g.chr2:132266164C>T																													2.37:g.132266164C>T								NR_026922.1						0	1217	+									RNA	SNP	ENST00000438378.2	37																																																																																						0.453	AC093838.4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000331819.7			19	23	0	0	0	1	0	19	23				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		899	Substitution - Missense(899)	p.E545K(881)|p.E545Q(18)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1633-1635)Gag>Aag		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			10	18	0	0	0	1	0	10	18				
PTEN	5728	broad.mit.edu	37	10	89692904	89692904	+	Missense_Mutation	SNP	C	C	G	rs121913292|rs121909224		TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr10:89692904C>G	ENST00000371953.3	+	5	1745	c.388C>G	c.(388-390)Cga>Gga	p.R130G		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CWS1 and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9635567}.|R -> Q (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9915974}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R130G(102)|p.R130*(63)|p.0?(37)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.R130R(1)|p.A121_F145del(1)|p.R130fs*4(1)|p.G129fs*51(1)|p.F56fs*2(1)|p.G129fs*50(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGGAAAGGGACGAACTGGTGT	0.403	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		224	Substitution - Missense(102)|Substitution - Nonsense(63)|Whole gene deletion(37)|Deletion - Frameshift(10)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(2)|Substitution - coding silent(1)	p.R130G(102)|p.R130*(63)|p.0?(37)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.R130R(1)|p.A121_F145del(1)|p.R130fs*4(1)|p.G129fs*51(1)|p.F56fs*2(1)|p.G129fs*50(1)|p.K128fs*47(1)	endometrium(125)|central_nervous_system(37)|prostate(21)|ovary(10)|lung(9)|skin(6)|haematopoietic_and_lymphoid_tissue(5)|breast(3)|cervix(2)|large_intestine(2)|soft_tissue(2)|thyroid(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM971273	PTEN	M	rs121909224	c.(388-390)Cga>Gga		phosphatase and tensin homolog							141.0	131.0	134.0					10																	89692904		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692904C>G	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.388C>G	10.37:g.89692904C>G	ENSP00000361021:p.Arg130Gly	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.R130G	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1745	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	130		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.388C>G	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305770	0.81247	.	.	ENSG00000171862	ENST00000371953	D	0.98362	-4.89	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99501	0.9822	H	0.99156	4.45	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97828	1.0261	9	.	.	.	-1.7685	18.7776	0.91918	0.0:1.0:0.0:0.0	.	130	P60484	PTEN_HUMAN	G	130	ENSP00000361021:R130G	.	R	+	1	2	PTEN	89682884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.527000	0.67123	2.411000	0.81874	0.655000	0.94253	CGA		0.403	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		29	36	0	0	0	1	0	29	36				
LINC00854	100874261	broad.mit.edu	37	17	41382190	41382190	+	RNA	SNP	G	G	C	rs2356314	byFrequency	TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr17:41382190G>C	ENST00000433702.2	-	0	14				LINC00854_ENST00000600764.1_RNA|LINC00854_ENST00000608223.1_RNA	NR_047479.1				long intergenic non-protein coding RNA 854																		aacaactgctgcaagaggggc	0.532																																						ENST00000433702.2																			0																																																			0							g.chr17:41382190G>C			17q21.31	2013-02-13	2013-02-13	2013-02-13	ENSG00000236383	ENSG00000236383		"""Long non-coding RNAs"""	43658	non-coding RNA	RNA, long non-coding			"""TMEM106A antisense RNA 1 (non-protein coding)"", ""TMEM106A antisense RNA 1"", ""TMEM106A antisense RNA 1 (tail to tail)"""	TMEM106A-AS1		22196729	Standard	NR_047479		Approved		uc031ras.1		OTTHUMG00000132641		17.37:g.41382190G>C								NR_047479.1						0	14	-									RNA	SNP	ENST00000433702.2	37																																																																																						0.532	LINC00854-001	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000255889.2			12	27	0	0	0	1	0	12	27				
LOC728323	728323	broad.mit.edu	37	2	243056818	243056818	+	RNA	SNP	C	C	T	rs62192206		TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr2:243056818C>T	ENST00000456398.1	+	0	339																											TGGAGAAATACTCAATAATGA	0.269																																						ENST00000456398.1																			0																																																			0							g.chr2:243056818C>T																													2.37:g.243056818C>T														0	339	+									RNA	SNP	ENST00000456398.1	37																																																																																						0.269	AC093642.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000322444.2			3	24	0	0	0	1	0	3	24				
ITIH4	3700	broad.mit.edu	37	3	52858518	52858518	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr3:52858518C>T	ENST00000266041.4	-	8	1036	c.940G>A	c.(940-942)Gtc>Atc	p.V314I	ITIH4_ENST00000467462.1_5'Flank|ITIH4_ENST00000485816.1_Missense_Mutation_p.V314I|ITIH4_ENST00000434759.3_Missense_Mutation_p.V226I|ITIH4_ENST00000346281.5_Missense_Mutation_p.V314I|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000406595.1_Missense_Mutation_p.V314I|ITIH4-AS1_ENST00000478366.1_RNA	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	314	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GTACTGAAGACGATGAGGTTG	0.572																																						ENST00000266041.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30						c.(940-942)Gtc>Atc		inter-alpha-trypsin inhibitor heavy chain family, member 4							109.0	105.0	107.0					3																	52858518		2203	4300	6503	SO:0001583	missense	3700				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52858518C>T	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.940G>A	3.37:g.52858518C>T	ENSP00000266041:p.Val314Ile					ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000406595.1_Missense_Mutation_p.V314I|ITIH4_ENST00000485816.1_Missense_Mutation_p.V314I|ITIH4_ENST00000434759.3_Missense_Mutation_p.V226I|ITIH4_ENST00000346281.5_Missense_Mutation_p.V314I	p.V314I	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	8	1036	-			314			VWFA.		B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Missense_Mutation	SNP	ENST00000266041.4	37	c.940G>A	CCDS2865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.34|12.34	1.908808|1.908808	0.33721|0.33721	.|.	.|.	ENSG00000055955|ENSG00000055955	ENST00000441637|ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421;ENST00000434759	.|D;D;D;D;D	.|0.83335	.|-1.71;-1.71;-1.71;-1.71;-1.71	5.18|5.18	-10.4|-10.4	0.00318|0.00318	.|von Willebrand factor, type A (3);	.|2.486670	.|0.01767	.|N	.|0.030958	T|T	0.60805|0.60805	0.2297|0.2297	N|N	0.16098|0.16098	0.37|0.37	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.22909	.|0.06;0.06;0.034;0.077	.|B;B;B;B	.|0.17722	.|0.011;0.019;0.019;0.018	T|T	0.53301|0.53301	-0.8458|-0.8458	5|10	.|0.18710	.|T	.|0.47	0.5434|0.5434	3.5354|3.5354	0.07792|0.07792	0.0799:0.2726:0.2396:0.4079|0.0799:0.2726:0.2396:0.4079	.|.	.|314;314;314;314	.|E9PGN5;B7ZKJ8;Q14624;Q14624-2	.|.;.;ITIH4_HUMAN;.	H|I	171|314;314;314;314;302;226	.|ENSP00000266041:V314I;ENSP00000340520:V314I;ENSP00000417824:V314I;ENSP00000384425:V314I;ENSP00000440036:V226I	.|ENSP00000266041:V314I	R|V	-|-	2|1	0|0	ITIH4|ITIH4	52833558|52833558	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-1.331000|-1.331000	0.02672|0.02672	-2.221000|-2.221000	0.00728|0.00728	-0.254000|-0.254000	0.11334|0.11334	CGT|GTC		0.572	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		14	71	0	0	0	1	0	14	71				
PRSS3P2	154754	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493																																						ENST00000603901.1																			1	Substitution - coding silent(1)	p.P203P(1)	prostate(1)																																																0							g.chr7:142482229T>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482229T>A								NR_001296.3						0	609	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.493	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		5	79	0	0	0	1	0	5	79				
KCNA4	3739	broad.mit.edu	37	11	30034018	30034018	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr11:30034018C>T	ENST00000328224.6	-	2	1441	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	70					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	GAGGTACAGGCCCCGCGTGAC	0.662																																						ENST00000328224.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(208-210)Gcc>Acc		potassium voltage-gated channel, shaker-related subfamily, member 4							39.0	41.0	40.0					11																	30034018		1963	4141	6104	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30034018C>T	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.208G>A	11.37:g.30034018C>T	ENSP00000328511:p.Ala70Thr						p.A70T	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	1441	-			70						Missense_Mutation	SNP	ENST00000328224.6	37	c.208G>A	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.529385	0.27387	.	.	ENSG00000182255	ENST00000328224	D	0.97279	-4.32	4.75	-0.486	0.12064	Potassium channel, voltage dependent, Kv1.4, tandem inactivation (2);	32.803700	0.00166	N	0.000000	D	0.91459	0.7304	N	0.14661	0.345	0.40374	D	0.979373	B	0.06786	0.001	B	0.10450	0.005	T	0.81924	-0.0710	10	0.21014	T	0.42	.	3.1496	0.06483	0.1229:0.5552:0.1197:0.2021	.	70	P22459	KCNA4_HUMAN	T	70	ENSP00000328511:A70T	ENSP00000328511:A70T	A	-	1	0	KCNA4	29990594	0.998000	0.40836	0.503000	0.27626	0.574000	0.36063	2.355000	0.44107	0.093000	0.17368	0.491000	0.48974	GCC		0.662	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		13	66	0	0	0	1	0	13	66				
ZC3H10	84872	broad.mit.edu	37	12	56515410	56515410	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr12:56515410C>T	ENST00000257940.2	+	3	1340	c.1064C>T	c.(1063-1065)cCc>cTc	p.P355L	RP11-603J24.6_ENST00000550840.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	355	Pro-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			CCACCCCCACCCCCACACTTG	0.627																																						ENST00000257940.2																			0				breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11						c.(1063-1065)cCc>cTc		zinc finger CCCH-type containing 10							78.0	67.0	71.0					12																	56515410		2203	4300	6503	SO:0001583	missense	84872						nucleic acid binding|zinc ion binding	g.chr12:56515410C>T	BC018708	CCDS8903.1	12q13.2	2012-07-05	2005-06-02	2005-06-02		ENSG00000135482		"""Zinc fingers, CCCH-type domain containing"""	25893	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 10"""	ZC3HDC10		12477932	Standard	NM_032786		Approved	FLJ14451	uc001sjp.1	Q96K80		ENST00000257940.2:c.1064C>T	12.37:g.56515410C>T	ENSP00000257940:p.Pro355Leu					RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA	p.P355L	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.12)		3	1340	+			355			Pro-rich.			Missense_Mutation	SNP	ENST00000257940.2	37	c.1064C>T	CCDS8903.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.160470	0.38119	.	.	ENSG00000135482	ENST00000257940	.	.	.	4.89	4.89	0.63831	.	0.000000	0.37261	N	0.002168	T	0.61426	0.2346	N	0.19112	0.55	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	T	0.64381	-0.6421	9	0.59425	D	0.04	-3.0131	13.7562	0.62937	0.0:1.0:0.0:0.0	.	355	Q96K80	ZC3HA_HUMAN	L	355	.	ENSP00000257940:P355L	P	+	2	0	ZC3H10	54801677	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.119000	0.57891	2.711000	0.92665	0.643000	0.83706	CCC		0.627	ZC3H10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407826.1	NM_032786		25	46	0	0	0	1	0	25	46				
SALL3	27164	broad.mit.edu	37	18	76754280	76754280	+	Silent	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr18:76754280C>T	ENST00000537592.2	+	2	2289	c.2289C>T	c.(2287-2289)ggC>ggT	p.G763G	SALL3_ENST00000536229.3_Silent_p.G630G|SALL3_ENST00000575389.2_Silent_p.G763G	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	763					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TGCACATGGGCGGCCAGATCC	0.652																																						ENST00000536229.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(1888-1890)ggC>ggT		spalt-like transcription factor 3							71.0	63.0	66.0					18																	76754280		2203	4300	6503	SO:0001819	synonymous_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76754280C>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2289C>T	18.37:g.76754280C>T						SALL3_ENST00000537592.2_Silent_p.G763G|SALL3_ENST00000575389.2_Silent_p.G763G	p.G630G			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	1	2599	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	763					Q9UGH1	Silent	SNP	ENST00000537592.2	37	c.1890C>T	CCDS12013.1																																																																																				0.652	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		24	40	0	0	0	1	0	24	40				
ESPNP	284729	broad.mit.edu	37	1	17023110	17023110	+	RNA	SNP	G	G	A	rs11260887|rs201639447	byFrequency	TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr1:17023110G>A	ENST00000492551.1	-	0	1753					NR_026567.1				espin pseudogene																		GTTGAGCAGCGGCTGAAACCC	0.687													g|||	1622	0.323882	0.1233	0.3703	5008	,	,		35506	0.4792		0.3429	False		,,,				2504	0.3824					ENST00000492551.1																			0																																																			0							g.chr1:17023110G>A	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17023110G>A								NR_026567.1						0	1753	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.687	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			5	21	0	0	0	1	0	5	21				
UGT1A6	54578	broad.mit.edu	37	2	234601884	234601884	+	Nonsense_Mutation	SNP	T	T	G			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr2:234601884T>G	ENST00000305139.6	+	1	373	c.234T>G	c.(232-234)taT>taG	p.Y78*	UGT1A6_ENST00000406651.1_5'Flank|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000373424.1_Intron|AC114812.8_ENST00000439336.1_RNA|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000344644.5_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	78					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	GAAAAATCTATCCAGTGCCGT	0.423																																						ENST00000305139.6																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22						c.(232-234)taT>taG									103.0	101.0	102.0					2																	234601884		2203	4300	6503	SO:0001587	stop_gained	0							g.chr2:234601884T>G	M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.234T>G	2.37:g.234601884T>G	ENSP00000303174:p.Tyr78*					UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000344644.5_Intron	p.Y78*	NM_001072.3	NP_001063.2				Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	1	373	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)						A6NKK6|B8K289|Q96TE7	Nonsense_Mutation	SNP	ENST00000305139.6	37	c.234T>G	CCDS2507.1	.	.	.	.	.	.	.	.	.	.	T	12.00	1.806417	0.31961	.	.	ENSG00000167165	ENST00000441351;ENST00000305139	.	.	.	5.17	-9.0	0.00747	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6644	0.51366	0.0:0.2462:0.09:0.6638	.	.	.	.	X	78	.	ENSP00000303174:Y78X	Y	+	3	2	UGT1A6	234266623	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-1.571000	0.02138	-2.279000	0.00676	-0.256000	0.11100	TAT		0.423	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862		29	49	0	0	0	1	0	29	49				
MBIP	51562	broad.mit.edu	37	14	36780847	36780847	+	Missense_Mutation	SNP	C	C	T	rs140089260	byFrequency	TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr14:36780847C>T	ENST00000416007.4	-	6	809	c.722G>A	c.(721-723)cGa>cAa	p.R241Q	MBIP_ENST00000318473.7_Missense_Mutation_p.R241Q|MBIP_ENST00000359527.7_Missense_Mutation_p.R241Q|MBIP_ENST00000603913.1_5'UTR	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	241	Interaction with MAP3K12.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|inactivation of MAPK activity involved in osmosensory signaling pathway (GO:0000173)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein kinase inhibitor activity (GO:0004860)			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		ACCACAGTCTCGAAGCATGCT	0.428																																						ENST00000416007.4																			0				breast(2)|large_intestine(1)|lung(5)	8						c.(721-723)cGa>cAa		MAP3K12 binding inhibitory protein 1		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	118.0	98.0	104.0		722,722	6.2	1.0	14	dbSNP_134	104	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	MBIP	NM_001144891.1,NM_016586.2	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	241/344,241/345	36780847	1,13005	2203	4300	6503	SO:0001583	missense	51562				histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity	g.chr14:36780847C>T	BC016821	CCDS9658.1, CCDS45096.1	14q13.2	2005-01-10			ENSG00000151332	ENSG00000151332			20427	protein-coding gene	gene with protein product		609431				10801814	Standard	NM_016586		Approved		uc001wtm.2	Q9NS73	OTTHUMG00000140222	ENST00000416007.4:c.722G>A	14.37:g.36780847C>T	ENSP00000399718:p.Arg241Gln					MBIP_ENST00000318473.7_Missense_Mutation_p.R241Q|MBIP_ENST00000359527.7_Missense_Mutation_p.R241Q|MBIP_ENST00000603913.1_5'UTR	p.R241Q	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)	6	809	-	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		241			Interaction with MAP3K12.		Q86TZ2|Q96AS5|Q9BS93|Q9NZE1	Missense_Mutation	SNP	ENST00000416007.4	37	c.722G>A	CCDS9658.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619339	0.66787	0.0	1.16E-4	ENSG00000151332	ENST00000416007;ENST00000318473;ENST00000359527;ENST00000396329;ENST00000553298	T;T;T	0.41400	1.0;1.0;1.0	6.17	6.17	0.99709	.	0.174114	0.51477	D	0.000096	T	0.53318	0.1789	M	0.67953	2.075	0.37619	D	0.921245	P;D;D;B	0.76494	0.89;0.999;0.999;0.386	B;P;P;B	0.55871	0.376;0.786;0.786;0.038	T	0.60637	-0.7224	10	0.56958	D	0.05	-3.9346	9.3033	0.37858	0.146:0.7779:0.0:0.0762	.	215;241;241;241	B4DE55;Q9NS73-5;Q9NS73-3;Q9NS73	.;.;.;MBIP1_HUMAN	Q	241;241;241;248;201	ENSP00000399718:R241Q;ENSP00000324444:R241Q;ENSP00000352517:R241Q	ENSP00000324444:R241Q	R	-	2	0	MBIP	35850598	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.046000	0.49846	2.941000	0.99782	0.655000	0.94253	CGA		0.428	MBIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276685.2	NM_016586		11	25	0	0	0	1	0	11	25				
MYH7B	57644	broad.mit.edu	37	20	33572744	33572744	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr20:33572744C>T	ENST00000262873.7	+	10	954	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	246	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TAACTCCTCCCGCTTTGTGAG	0.652																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(862-864)Cgc>Tgc		myosin, heavy chain 7B, cardiac muscle, beta							61.0	68.0	65.0					20																	33572744		2197	4296	6493	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33572744C>T	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.862C>T	20.37:g.33572744C>T	ENSP00000262873:p.Arg288Cys						p.R288C	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		10	954	+			246			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.862C>T	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980559	0.74474	.	.	ENSG00000078814	ENST00000262873	D	0.84660	-1.88	4.64	4.64	0.57946	Myosin head, motor domain (3);	0.000000	0.36444	N	0.002599	D	0.93979	0.8072	H	0.99981	5.195	0.80722	D	1	P	0.35656	0.514	B	0.37601	0.254	D	0.95814	0.8844	10	0.87932	D	0	.	18.049	0.89342	0.0:1.0:0.0:0.0	.	246	A7E2Y1	MYH7B_HUMAN	C	288	ENSP00000262873:R288C	ENSP00000262873:R288C	R	+	1	0	MYH7B	33036405	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	4.676000	0.61627	2.544000	0.85801	0.655000	0.94253	CGC		0.652	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		31	65	0	0	0	1	0	31	65				
ARHGAP9	64333	broad.mit.edu	37	12	57871401	57871401	+	Silent	SNP	G	G	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr12:57871401G>T	ENST00000356411.2	-	4	735	c.597C>A	c.(595-597)cgC>cgA	p.R199R	ARHGAP9_ENST00000393791.3_Silent_p.R199R|ARHGAP9_ENST00000550288.1_Silent_p.R278R|ARHGAP9_ENST00000424809.2_Silent_p.R199R|ARHGAP9_ENST00000393797.2_Silent_p.R270R|ARHGAP9_ENST00000430041.2_Silent_p.R15R|ARHGAP9_ENST00000550454.1_5'UTR			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	199					positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			ACCGAGGACAGCGGCGAAGGT	0.647																																						ENST00000393797.2																			0				endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30						c.(808-810)cgC>cgA		Rho GTPase activating protein 9							26.0	31.0	29.0					12																	57871401		2202	4300	6502	SO:0001819	synonymous_variant	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57871401G>T	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.597C>A	12.37:g.57871401G>T						ARHGAP9_ENST00000356411.2_Silent_p.R199R|ARHGAP9_ENST00000424809.2_Silent_p.R199R|ARHGAP9_ENST00000550454.1_5'UTR|ARHGAP9_ENST00000550288.1_Silent_p.R278R|ARHGAP9_ENST00000393791.3_Silent_p.R199R|ARHGAP9_ENST00000430041.2_Silent_p.R15R	p.R270R			Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		7	1002	-			199					B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Silent	SNP	ENST00000356411.2	37	c.810C>A																																																																																					0.647	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		23	55	1	0	3.5997e-14	1	3.8054e-14	23	55				
ILF3	3609	broad.mit.edu	37	19	10781723	10781723	+	Missense_Mutation	SNP	A	A	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr19:10781723A>T	ENST00000590261.1	+	2	77	c.77A>T	c.(76-78)gAg>gTg	p.E26V	ILF3_ENST00000449870.1_Missense_Mutation_p.E26V|ILF3_ENST00000592763.1_Missense_Mutation_p.E26V|ILF3_ENST00000420083.1_Missense_Mutation_p.E26V|ILF3_ENST00000588657.1_Missense_Mutation_p.E26V|ILF3_ENST00000407004.3_Missense_Mutation_p.E26V|ILF3_ENST00000318511.3_Missense_Mutation_p.E26V|ILF3_ENST00000250241.8_Missense_Mutation_p.E26V|ILF3_ENST00000589998.1_Missense_Mutation_p.E26V			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	26	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CCAACACAAGAGGAGCTGGAG	0.502																																						ENST00000449870.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(76-78)gAg>gTg		interleukin enhancer binding factor 3, 90kDa							63.0	58.0	60.0					19																	10781723		2203	4300	6503	SO:0001583	missense	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10781723A>T	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.77A>T	19.37:g.10781723A>T	ENSP00000468156:p.Glu26Val					ILF3_ENST00000420083.1_Missense_Mutation_p.E26V|ILF3_ENST00000318511.3_Missense_Mutation_p.E26V|ILF3_ENST00000407004.3_Missense_Mutation_p.E26V|ILF3_ENST00000592763.1_Missense_Mutation_p.E26V|ILF3_ENST00000589998.1_Missense_Mutation_p.E26V|ILF3_ENST00000250241.8_Missense_Mutation_p.E26V|ILF3_ENST00000590261.1_Missense_Mutation_p.E26V|ILF3_ENST00000588657.1_Missense_Mutation_p.E26V	p.E26V	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		3	394	+			26					A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	c.77A>T	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.535290	0.85812	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.62024	0.2394	M	0.88310	2.945	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.984;1.0;1.0	D;D;D;D;D	0.87578	0.996;0.991;0.943;0.998;0.996	T	0.69785	-0.5051	10	0.87932	D	0	.	14.7373	0.69424	1.0:0.0:0.0:0.0	rs35769828	26;26;26;26;26	G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;ILF3_HUMAN;.;.;.	V	26	ENSP00000404121:E26V;ENSP00000315205:E26V;ENSP00000405436:E26V;ENSP00000384660:E26V;ENSP00000250241:E26V	ENSP00000250241:E26V	E	+	2	0	ILF3	10642723	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.899000	0.75682	2.371000	0.80710	0.533000	0.62120	GAG		0.502	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			7	22	0	0	0	1	0	7	22				
MAML2	84441	broad.mit.edu	37	11	95718733	95718733	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr11:95718733C>T	ENST00000524717.1	-	4	3701	c.2417G>A	c.(2416-2418)aGa>aAa	p.R806K		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	806					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GCCCACATTTCTTCTTTGGTC	0.323			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																	ENST00000524717.1				Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	"""MECT1, CRTC3"""		salivary gland mucoepidermoid	CRTC3/MAML2(26)|CRTC1/MAML2(516)	0				breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43						c.(2416-2418)aGa>aAa		mastermind-like 2 (Drosophila)							182.0	155.0	163.0					11																	95718733		1833	4083	5916	SO:0001583	missense	84441				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr11:95718733C>T	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.2417G>A	11.37:g.95718733C>T	ENSP00000434552:p.Arg806Lys						p.R806K	NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN			4	3701	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	806					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	ENST00000524717.1	37	c.2417G>A	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759343	0.89932	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.51574	0.7;0.7	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000003	T	0.62563	0.2438	L	0.42245	1.32	0.32156	N	0.583626	D	0.69078	0.997	D	0.72625	0.978	T	0.64888	-0.6301	10	0.39692	T	0.17	-18.1389	19.3136	0.94202	0.0:1.0:0.0:0.0	.	806	Q8IZL2	MAML2_HUMAN	K	806	ENSP00000434552:R806K;ENSP00000412394:R806K	ENSP00000412394:R806K	R	-	2	0	MAML2	95358381	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.951000	0.63610	2.574000	0.86865	0.561000	0.74099	AGA		0.323	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			5	15	0	0	0	1	0	5	15				
HM13	81502	broad.mit.edu	37	20	30155955	30155955	+	Intron	SNP	C	C	G			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr20:30155955C>G	ENST00000340852.5	+	12	1158				HM13-AS1_ENST00000412178.1_RNA|HM13_ENST00000335574.5_Missense_Mutation_p.A370G|HM13_ENST00000492709.1_Intron|HM13_ENST00000398174.3_Missense_Mutation_p.A370G|HM13_ENST00000376127.3_Intron	NM_030789.2	NP_110416.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13						membrane protein proteolysis (GO:0033619)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			GGCTCCCCAGCCAGCCTGGCC	0.662																																						ENST00000335574.5																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(1108-1110)gCc>gGc		histocompatibility (minor) 13							28.0	27.0	27.0					20																	30155955		2201	4299	6500	SO:0001627	intron_variant	81502				membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding	g.chr20:30155955C>G	AL110115	CCDS13182.1, CCDS13183.1, CCDS42861.1	20q11.21	2012-02-21			ENSG00000101294	ENSG00000101294			16435	protein-coding gene	gene with protein product	"""signal peptide peptidase beta"", ""presenilin-like protein 3"", ""intramembrane protease"", ""signal peptide peptidase like 1"""	607106				12077416, 14704149	Standard	NM_030789		Approved	H13, dJ324O17.1, SPP, PSL3, IMP1, IMPAS, PSENL3, SPPL1	uc002wwc.3	Q8TCT9	OTTHUMG00000032175	ENST00000340852.5:c.1035-968C>G	20.37:g.30155955C>G						HM13_ENST00000398174.3_Missense_Mutation_p.A370G|HM13_ENST00000492709.1_Intron|HM13_ENST00000340852.5_Intron|HM13_ENST00000376127.3_Intron|HM13-AS1_ENST00000412178.1_RNA	p.A370G	NM_178580.1	NP_848695.1	Q8TCT9	HM13_HUMAN	all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)		12	1233	+	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		366					B2RAY5|E1P5L3|Q15K36|Q540H8|Q5JWP2|Q5JWP3|Q5JWP4|Q5JWP5|Q7Z4F2|Q86Y35|Q95H87|Q9H110|Q9H111	Missense_Mutation	SNP	ENST00000340852.5	37	c.1109C>G	CCDS13182.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.492251	0.84962	.	.	ENSG00000101294	ENST00000335574;ENST00000398174	T;T	0.25912	1.77;1.86	5.35	5.35	0.76521	.	0.060860	0.64402	D	0.000004	T	0.35128	0.0921	.	.	.	0.80722	D	1	D;B	0.63880	0.993;0.43	P;B	0.52386	0.697;0.2	T	0.01087	-1.1456	9	0.26408	T	0.33	-48.8131	15.9216	0.79580	0.0:1.0:0.0:0.0	.	370;370	Q8TCT9-4;Q8TCT9-2	.;.	G	370	ENSP00000335294:A370G;ENSP00000381237:A370G	ENSP00000335294:A370G	A	+	2	0	HM13	29619616	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.932000	0.75869	2.784000	0.95788	0.549000	0.68633	GCC		0.662	HM13-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078527.2	NM_178580		4	37	0	0	0	1	0	4	37				
GRIA3	2892	broad.mit.edu	37	X	122599593	122599593	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chrX:122599593G>A	ENST00000371251.1	+	14	2445	c.2393G>A	c.(2392-2394)tGg>tAg	p.W798*	AL356213.1_ENST00000577653.1_RNA|GRIA3_ENST00000542149.1_Nonsense_Mutation_p.W798*|GRIA3_ENST00000264357.5_Nonsense_Mutation_p.W798*|GRIA3_ENST00000371256.5_Intron			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	798					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	AAAAACAAATGGTGGTACGAC	0.458																																						ENST00000264357.5																			0				breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57						c.(2392-2394)tGg>tAg		glutamate receptor, ionotropic, AMPA 3	L-Glutamic Acid(DB00142)						91.0	79.0	83.0					X																	122599593		2203	4300	6503	SO:0001587	stop_gained	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122599593G>A	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.2393G>A	X.37:g.122599593G>A	ENSP00000360297:p.Trp798*					GRIA3_ENST00000371251.1_Nonsense_Mutation_p.W798*|GRIA3_ENST00000371256.5_Intron|GRIA3_ENST00000542149.1_Nonsense_Mutation_p.W798*	p.W798*	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN			14	2685	+			798					D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Nonsense_Mutation	SNP	ENST00000371251.1	37	c.2393G>A	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	G	40	7.958896	0.98583	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371251	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.8434	0.88721	0.0:0.0:1.0:0.0	.	.	.	.	X	798	.	ENSP00000264357:W798X	W	+	2	0	GRIA3	122427274	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.433000	0.82419	0.594000	0.82650	TGG		0.458	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		16	36	0	0	0	1	0	16	36				
LRRC37A6P	387646	broad.mit.edu	37	10	27538420	27538420	+	lincRNA	SNP	G	G	C			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr10:27538420G>C	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							ACTGTGGCTTGAGTCAGGTTT	0.498																																						ENST00000574842.1																			0																				98.0	86.0	90.0					10																	27538420		692	1591	2283			0							g.chr10:27538420G>C																													10.37:g.27538420G>C						LRRC37A6P_ENST00000284414.4_RNA								0	255	+									RNA	SNP	ENST00000574842.1	37																																																																																						0.498	RP11-85G18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436904.1			71	77	0	0	0	1	0	71	77				
SOX4	6659	broad.mit.edu	37	6	21596141	21596141	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr6:21596141C>G	ENST00000244745.1	+	1	2170	c.1376C>G	c.(1375-1377)tCg>tGg	p.S459W	SOX4_ENST00000543472.1_Missense_Mutation_p.S459W	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	459					ascending aorta morphogenesis (GO:0035910)|atrial septum primum morphogenesis (GO:0003289)|canonical Wnt signaling pathway (GO:0060070)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle formation (GO:0003211)|cellular response to glucose stimulus (GO:0071333)|DNA damage response, detection of DNA damage (GO:0042769)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endocrine pancreas development (GO:0031018)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|kidney morphogenesis (GO:0060993)|limb bud formation (GO:0060174)|mitral valve morphogenesis (GO:0003183)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|noradrenergic neuron differentiation (GO:0003357)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin secretion (GO:0032024)|positive regulation of N-terminal peptidyl-lysine acetylation (GO:2000761)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of Wnt signaling pathway (GO:0030177)|pro-B cell differentiation (GO:0002328)|protein stabilization (GO:0050821)|regulation of protein stability (GO:0031647)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spinal cord development (GO:0021510)|spinal cord motor neuron differentiation (GO:0021522)|sympathetic nervous system development (GO:0048485)|T cell differentiation (GO:0030217)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|nucleic acid binding transcription factor activity (GO:0001071)|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 transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			GAGATGATCTCGGGAGACTGG	0.622																																						ENST00000244745.1																			0				kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6						c.(1375-1377)tCg>tGg		SRY (sex determining region Y)-box 4							10.0	12.0	11.0					6																	21596141		2197	4297	6494	SO:0001583	missense	6659				canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity	g.chr6:21596141C>G	AF070669	CCDS4547.1	6p22.3	2008-02-05			ENSG00000124766	ENSG00000124766		"""SRY (sex determining region Y)-boxes"""	11200	protein-coding gene	gene with protein product		184430				8268656, 9730625	Standard	NM_003107		Approved		uc003ndi.3	Q06945	OTTHUMG00000016101	ENST00000244745.1:c.1376C>G	6.37:g.21596141C>G	ENSP00000244745:p.Ser459Trp					SOX4_ENST00000543472.1_Missense_Mutation_p.S459W	p.S459W	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	all cancers(50;0.0751)|Epithelial(50;0.155)		1	2170	+	Ovarian(93;0.163)		459						Missense_Mutation	SNP	ENST00000244745.1	37	c.1376C>G	CCDS4547.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.659758	0.67586	.	.	ENSG00000124766	ENST00000244745;ENST00000543472	D;D	0.98280	-4.84;-4.84	4.19	3.32	0.38043	.	0.000000	0.64402	U	0.000007	D	0.97848	0.9293	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	D	0.98102	1.0415	10	0.87932	D	0	.	11.7965	0.52102	0.0:0.911:0.0:0.089	.	459	Q06945	SOX4_HUMAN	W	459	ENSP00000244745:S459W;ENSP00000438412:S459W	ENSP00000244745:S459W	S	+	2	0	SOX4	21704120	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.570000	0.82390	0.874000	0.35823	0.585000	0.79938	TCG		0.622	SOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043301.1	NM_003107		4	16	0	0	0	1	0	4	16				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						ENST00000435989.2																			10	Substitution - Missense(10)	p.D404E(10)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron	p.D404E	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1446	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		3	15	1	0	0.115264	1	0.115264	3	15				
EPHB1	2047	broad.mit.edu	37	3	134670597	134670597	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr3:134670597C>T	ENST00000398015.3	+	3	878	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	170	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GCCTCTTACTCGGAATGGTTT	0.463																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(508-510)Cgg>Tgg		EPH receptor B1							240.0	233.0	235.0					3																	134670597		1936	4152	6088	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134670597C>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.508C>T	3.37:g.134670597C>T	ENSP00000381097:p.Arg170Trp					EPHB1_ENST00000488154.1_Intron	p.R170W	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			3	878	+			170					A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.508C>T	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.574836	0.65878	.	.	ENSG00000154928	ENST00000398015;ENST00000474732	T;T	0.03951	3.75;3.75	5.49	4.59	0.56863	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.061384	0.64402	D	0.000005	T	0.20373	0.0490	M	0.80183	2.485	0.80722	D	1	D	0.71674	0.998	D	0.63381	0.914	T	0.01228	-1.1412	9	.	.	.	.	15.1725	0.72884	0.1464:0.8536:0.0:0.0	.	170	P54762	EPHB1_HUMAN	W	170;148	ENSP00000381097:R170W;ENSP00000418352:R148W	.	R	+	1	2	EPHB1	136153287	0.997000	0.39634	0.980000	0.43619	0.994000	0.84299	2.507000	0.45442	1.251000	0.43983	0.655000	0.94253	CGG		0.463	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		94	117	0	0	0	1	0	94	117				
NTRK3	4916	broad.mit.edu	37	15	88679256	88679256	+	Missense_Mutation	SNP	T	T	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr15:88679256T>A	ENST00000360948.2	-	8	942	c.781A>T	c.(781-783)Acc>Tcc	p.T261S	NTRK3_ENST00000317501.3_Missense_Mutation_p.T261S|NTRK3_ENST00000540489.2_Missense_Mutation_p.T261S|NTRK3_ENST00000558676.1_Missense_Mutation_p.T261S|NTRK3_ENST00000542733.2_Missense_Mutation_p.T163S|NTRK3_ENST00000394480.2_Missense_Mutation_p.T261S|NTRK3_ENST00000557856.1_Missense_Mutation_p.T261S|NTRK3_ENST00000355254.2_Missense_Mutation_p.T261S|NTRK3_ENST00000357724.2_Missense_Mutation_p.T261S	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	261	Ig-like C2-type 1.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGAACATTGGTCCAGTTCAGA	0.458			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												ENST00000394480.1				Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		"""congenital fibrosarcoma, Secretory breast """	ETV6/NTRK3(238)	0				breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119						c.(781-783)Acc>Tcc		neurotrophic tyrosine kinase, receptor, type 3							204.0	149.0	167.0					15																	88679256		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88679256T>A	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.781A>T	15.37:g.88679256T>A	ENSP00000354207:p.Thr261Ser	TSP Lung(13;0.10)				NTRK3_ENST00000557856.1_Missense_Mutation_p.T261S|NTRK3_ENST00000542733.2_Missense_Mutation_p.T163S|NTRK3_ENST00000355254.2_Missense_Mutation_p.T261S|NTRK3_ENST00000540489.2_Missense_Mutation_p.T261S|NTRK3_ENST00000317501.3_Missense_Mutation_p.T261S|NTRK3_ENST00000357724.2_Missense_Mutation_p.T261S|NTRK3_ENST00000360948.2_Missense_Mutation_p.T261S|NTRK3_ENST00000558676.1_Missense_Mutation_p.T261S	p.T261S	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		9	1102	-			261			Ig-like C2-type 1.		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.781A>T	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	T	12.29	1.892132	0.33442	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24	5.51	5.51	0.81932	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.161054	0.56097	D	0.000036	T	0.62780	0.2456	N	0.26042	0.785	0.28639	N	0.907259	B;B;B;P;P;B	0.48911	0.285;0.425;0.027;0.917;0.763;0.061	B;B;B;P;B;B	0.51657	0.185;0.252;0.038;0.676;0.163;0.038	T	0.57545	-0.7793	10	0.20046	T	0.44	.	14.4577	0.67428	0.0:0.0:0.0:1.0	.	163;261;261;261;261;261	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	S	261;261;261;261;163;261;261	ENSP00000377990:T261S;ENSP00000354207:T261S;ENSP00000350356:T261S;ENSP00000347397:T261S;ENSP00000437773:T163S;ENSP00000444673:T261S;ENSP00000318328:T261S	ENSP00000318328:T261S	T	-	1	0	NTRK3	86480260	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.950000	0.49081	2.093000	0.63338	0.460000	0.39030	ACC		0.458	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				6	62	0	0	0	1	0	6	62				
KCNJ9	3765	broad.mit.edu	37	1	160054319	160054319	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr1:160054319C>T	ENST00000368088.3	+	2	741	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C		NM_004983.2	NP_004974.2	Q92806	KCNJ9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	167					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCCCAACAAGCGCGCAGCCAC	0.652																																						ENST00000368088.3																			0				biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16						c.(499-501)Cgc>Tgc		potassium inwardly-rectifying channel, subfamily J, member 9							32.0	31.0	31.0					1																	160054319		2203	4300	6503	SO:0001583	missense	3765				synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr1:160054319C>T	U52152	CCDS1194.1	1q23.2	2011-07-05			ENSG00000162728	ENSG00000162728		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6270	protein-coding gene	gene with protein product		600932				8575783, 16382105	Standard	NM_004983		Approved	Kir3.3, GIRK3	uc001fuy.1	Q92806	OTTHUMG00000024072	ENST00000368088.3:c.499C>T	1.37:g.160054319C>T	ENSP00000357067:p.Arg167Cys						p.R167C	NM_004983.2	NP_004974.2	Q92806	IRK9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	741	+	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		167					Q5JW75	Missense_Mutation	SNP	ENST00000368088.3	37	c.499C>T	CCDS1194.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215252	0.79352	.	.	ENSG00000162728	ENST00000368088	D	0.97041	-4.22	4.3	4.3	0.51218	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98792	0.9593	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99285	1.0897	10	0.87932	D	0	.	11.2158	0.48825	0.1838:0.8162:0.0:0.0	.	167	Q92806	IRK9_HUMAN	C	167	ENSP00000357067:R167C	ENSP00000357067:R167C	R	+	1	0	KCNJ9	158320943	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.093000	0.50217	2.103000	0.63969	0.555000	0.69702	CGC		0.652	KCNJ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060628.1	NM_004983		20	20	0	0	0	1	0	20	20				
SGK1	6446	broad.mit.edu	37	6	134491532	134491532	+	Silent	SNP	G	G	C			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr6:134491532G>C	ENST00000237305.7	-	12	1258	c.1170C>G	c.(1168-1170)acC>acG	p.T390T	SGK1_ENST00000413996.3_Silent_p.T404T|SGK1_ENST00000489458.2_5'Flank|SGK1_ENST00000528577.1_Silent_p.T418T|SGK1_ENST00000367857.5_Silent_p.T380T|SGK1_ENST00000475719.2_Silent_p.T346T|SGK1_ENST00000367858.5_Silent_p.T485T	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	390	AGC-kinase C-terminal.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		CAGGCTCTTCGGTAAACTCGG	0.557																																						ENST00000367858.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46						c.(1453-1455)acC>acG		serum/glucocorticoid regulated kinase 1							89.0	79.0	82.0					6																	134491532		2203	4300	6503	SO:0001819	synonymous_variant	6446				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:134491532G>C	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.1170C>G	6.37:g.134491532G>C						SGK1_ENST00000413996.3_Silent_p.T404T|SGK1_ENST00000367857.5_Silent_p.T380T|SGK1_ENST00000528577.1_Silent_p.T418T|SGK1_ENST00000237305.7_Silent_p.T390T|SGK1_ENST00000475719.2_Silent_p.T346T	p.T485T	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)	14	2052	-	Colorectal(23;0.221)		390					B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Silent	SNP	ENST00000237305.7	37	c.1455C>G	CCDS5170.1																																																																																				0.557	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2			36	55	0	0	0	1	0	36	55				
LOC100288069	100288069	broad.mit.edu	37	1	706330	706331	+	lincRNA	INS	-	-	G	rs556381602|rs370650309	byFrequency	TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr1:706330_706331insG	ENST00000428504.1	-	0	585					NR_033908.1																						CCACTGCCTGAGGGGGGGGAGG	0.609													|||unknown(NO_COVERAGE)	86	0.0171725	0.0015	0.0202	5008	,	,		21170	0.0		0.0467	False		,,,				2504	0.0235					ENST00000428504.1																			0																																																			0							g.chr1:706330_706331insG																													1.37:g.706338_706338dupG								NR_033908.1						0	585	-									RNA	INS	ENST00000428504.1	37																																																																																						0.609	RP11-206L10.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000006889.1			4	2						4	2	---	---	---	---
AGRN	375790	broad.mit.edu	37	1	985167	985168	+	Frame_Shift_Ins	INS	-	-	C			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr1:985167_985168insC	ENST00000379370.2	+	26	4786_4787	c.4736_4737insC	c.(4735-4740)ggccgcfs	p.R1580fs		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1580	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		TGCCCGCCCGGCCGCGTCGGTG	0.752																																						ENST00000379370.2																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(4735-4737)gcgfs		agrin																																				SO:0001589	frameshift_variant	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:985167_985168insC	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.4738dupC	1.37:g.985169_985169dupC	ENSP00000368678:p.Arg1580fs						p.A1579fs	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	26	4786_4787	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	1579			EGF-like 2.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Frame_Shift_Ins	INS	ENST00000379370.2	37	c.4736_4737insC	CCDS30551.1																																																																																				0.752	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		9	21						9	21	---	---	---	---
ESPNP	284729	broad.mit.edu	37	1	17019526	17019526	+	RNA	DEL	G	G	-	rs67654214	byFrequency	TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr1:17019526delG	ENST00000492551.1	-	0	1938					NR_026567.1				espin pseudogene																		AGCAGCTGCCGCAGCCGTTCG	0.766													g|G|-|deletion	2094	0.418131	0.4206	0.4582	5008	,	,		28871	0.3482		0.4215	False		,,,				2504	0.455					ENST00000492551.1																			0																																																			0							g.chr1:17019526delG	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17019526delG								NR_026567.1						0	1938	-									RNA	DEL	ENST00000492551.1	37																																																																																						0.766	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			4	2						4	2	---	---	---	---
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796|rs79472512	byFrequency	TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1				espin pseudogene																		CAGCAGCAGCCAGCTGAGCACC	0.718														1500	0.299521	0.1188	0.3444	5008	,	,		24180	0.4177		0.3101	False		,,,				2504	0.3793					ENST00000492551.1																			0																																																			0							g.chr1:17034125_17034126insAGCT	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17034126_17034129dupAGCT								NR_026567.1						0	477_478	-									RNA	INS	ENST00000492551.1	37																																																																																						0.718	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			10	3						10	3	---	---	---	---
HSPG2	3339	broad.mit.edu	37	1	22161368	22161368	+	Silent	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr1:22161368G>A	ENST00000374695.3	-	77	10603	c.10524C>T	c.(10522-10524)ttC>ttT	p.F3508F		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3508	Ig-like C2-type 21.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CCAGGCATTCGAACTCCACGG	0.637																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(10522-10524)ttC>ttT		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						75.0	63.0	67.0					1																	22161368		2203	4300	6503	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22161368G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.10524C>T	1.37:g.22161368G>A							p.F3508F	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	77	10603	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	3508			Ig-like C2-type 21.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.10524C>T	CCDS30625.1																																																																																				0.637	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		25	49	0	0	0	1	0	25	49				
ARID1A	8289	broad.mit.edu	37	1	27100182	27100184	+	In_Frame_Del	DEL	GCA	GCA	-	rs370696498|rs374564889		TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr1:27100182_27100184delGCA	ENST00000324856.7	+	16	4349_4351	c.3978_3980delGCA	c.(3976-3981)ccgcag>ccg	p.Q1334del	ARID1A_ENST00000457599.2_In_Frame_Del_p.Q1334del|ARID1A_ENST00000374152.2_In_Frame_Del_p.Q951del|ARID1A_ENST00000540690.1_5'UTR	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1334	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.Q1327*(1)|p.Q1334delQ(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCTACCCCCCgcagcagcagcag	0.591			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	2	Substitution - Nonsense(1)|Deletion - In frame(1)	p.Q1327*(1)|p.Q1334delQ(1)	large_intestine(1)|endometrium(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(3976-3981)ccg>cc		AT rich interactive domain 1A (SWI-like)																																				SO:0001651	inframe_deletion	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27100182_27100184delGCA	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3978_3980delGCA	1.37:g.27100191_27100193delGCA	ENSP00000320485:p.Gln1334del					ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_In_Frame_Del_p.PQ943del|ARID1A_ENST00000457599.2_In_Frame_Del_p.PQ1326del	p.PQ1326del	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	16	4349_4351	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1326					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	In_Frame_Del	DEL	ENST00000324856.7	37	c.3978_3980delGCA	CCDS285.1																																																																																				0.591	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		9	155						9	155	---	---	---	---
SEC22B	9554	broad.mit.edu	37	1	145115028	145115028	+	RNA	DEL	T	T	-			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr1:145115028delT	ENST00000453618.1	+	0	820							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											TTTACTTGCGTTTTTTTTTGT	0.284																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)																																						9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145115028delT	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145115028delT										O75396	SC22B_HUMAN			0	820	+								A8K1G0	RNA	DEL	ENST00000453618.1	37																																																																																						0.284	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		2	4						2	4	---	---	---	---
TMF1	7110	broad.mit.edu	37	3	69084233	69084237	+	Frame_Shift_Del	DEL	CTGTA	CTGTA	-			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr3:69084233_69084237delCTGTA	ENST00000398559.2	-	9	2397_2401	c.2181_2185delTACAG	c.(2179-2187)cgtacagaafs	p.TE728fs	CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|TMF1_ENST00000543976.1_Frame_Shift_Del_p.TE731fs|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	728					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		GCCGCTTGTTCTGTACGCTGCAATG	0.434																																						ENST00000543976.1																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(2188-2196)cgaafs		TATA element modulatory factor 1																																				SO:0001589	frameshift_variant	7110				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	g.chr3:69084233_69084237delCTGTA		CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.2181_2185delTACAG	3.37:g.69084233_69084237delCTGTA	ENSP00000381567:p.Thr728fs					CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|TMF1_ENST00000398559.2_Frame_Shift_Del_p.RTE727fs|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA	p.RTE730fs	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)	9	2436_2440	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	727					B7ZLJ2|Q17R87|Q59GK0	Frame_Shift_Del	DEL	ENST00000398559.2	37	c.2190_2194delTACAG	CCDS43105.1																																																																																				0.434	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114		8	132						8	132	---	---	---	---
LOC728339	728339	broad.mit.edu	37	4	190767746	190767746	+	lincRNA	DEL	C	C	-	rs377236261|rs71266508		TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr4:190767746delC	ENST00000511785.1	-	0	425																											attctccgtgccgtgtccctc	0.627																																						ENST00000511785.1																			0																																																			0							g.chr4:190767746delC																													4.37:g.190767746delC														0	425	-									RNA	DEL	ENST00000511785.1	37																																																																																						0.627	AF146191.4-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000361301.1			2	4						2	4	---	---	---	---
LOC100128340	100128340	broad.mit.edu	37	5	177388625	177388625	+	RNA	DEL	G	G	-			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr5:177388625delG	ENST00000507072.1	+	0	417				RP11-1252I4.2_ENST00000511650.1_RNA|RP11-423H2.3_ENST00000366189.3_RNA																							AGGAGGGAGCGTGGCAGAGGG	0.617																																						ENST00000507072.1																			0																																																			0							g.chr5:177388625delG																													5.37:g.177388625delG						RP11-1252I4.2_ENST00000511650.1_RNA								0	417	+									RNA	DEL	ENST00000507072.1	37																																																																																						0.617	RP11-423H2.3-003	KNOWN	basic	antisense	antisense	OTTHUMT00000373530.1			3	5						3	5	---	---	---	---
DMWD	1762	broad.mit.edu	37	19	46289096	46289098	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr19:46289096_46289098delCCA	ENST00000270223.6	-	3	1701_1703	c.1656_1658delTGG	c.(1654-1659)ggtggc>ggc	p.552_553GG>G	DMWD_ENST00000377735.3_In_Frame_Del_p.552_553GG>G|DMWD_ENST00000601370.1_5'Flank|AC011530.4_ENST00000593999.1_In_Frame_Del_p.V45del	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	552										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GCCGCCACTGCCACCCCGGCTGA	0.719																																						ENST00000270223.6																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1654-1659)ggc>gg		dystrophia myotonica, WD repeat containing																																				SO:0001651	inframe_deletion	1762				meiosis			g.chr19:46289096_46289098delCCA	L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"""WD repeat domain containing"""	2936	protein-coding gene	gene with protein product		609857	"""dystrophia myotonica-containing WD repeat motif"""			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.1656_1658delTGG	19.37:g.46289096_46289098delCCA	ENSP00000270223:p.Gly553del					AC011530.4_ENST00000593999.1_In_Frame_Del_p.VA47del|DMWD_ENST00000377735.3_In_Frame_Del_p.GG552del	p.GG552del	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)	3	1701_1703	-		Ovarian(192;0.0308)|all_neural(266;0.112)	552						In_Frame_Del	DEL	ENST00000270223.6	37	c.1656_1658delTGG	CCDS33054.1																																																																																				0.719	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402063.1	NM_004943		28	37						28	37	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11071214	11071215	+	RNA	INS	-	-	C	rs113940337|rs10154153	byFrequency	TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr21:11071214_11071215insC	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gcagaccaattagggcttcagg	0.406																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11071214_11071215insC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11071214_11071215insC												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.406	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	3						4	3	---	---	---	---
NAP1L2	4674	broad.mit.edu	37	X	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-	rs369450592		TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gaggac>gac	p.E221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.E79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424														95	0.0251656	0.0272	0.0173	3775	,	,		14422	0.0069		0.0089	False		,,,				2504	0.0317					ENST00000373517.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(661-666)gac>ga		nucleosome assembly protein 1-like 2																																				SO:0001651	inframe_deletion	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433664_72433666delTCC	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.663_665delGGA	X.37:g.72433673_72433675delTCC	ENSP00000362616:p.Glu221del					NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del	p.ED221del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN			1	1018_1020	-	Renal(35;0.156)		221			Glu-rich (acidic).		B2RE61|B4E161|Q8TAN6	In_Frame_Del	DEL	ENST00000373517.3	37	c.663_665delGGA	CCDS14423.1																																																																																				0.424	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		8	45						8	45	---	---	---	---
